Andrea Superti-Furga

Publications | Phd and Masters theses

Advanced search is available through Serval

Publications can be managed by accessing Serval via MyUnil


457 publications

... | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000 | 1999 | 1998 | 1997 | 1996 | 1995 | 1994 | 1993 | ...
2009
 
Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiency.
Hainmann I., Oldenburg J., Pavlova A., Superti-Furga A., Zieger B., 2009/05. Hamostaseologie, 29 (2) pp. 184-186. Peer-reviewed.
[Pmid][serval:BIB_E4FD52301CF4]
 
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.
Kim O.H., Cho T.J., Song H.R., Chung C.Y., Miyagawa S., Nishimura G., Superti-Furga A., Unger S., 2009. Skeletal Radiology, 38 (8) pp. 803-811.
[DOI][WoS][Pmid][serval:BIB_6F86186DD03C]
 
An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus.
Kepron C., Blumenthal A., Chitayat D., Cutz E., Superti-Furga A., Keating S., 2009. Pediatric and Developmental Pathology, 12 (1) pp. 53-58.
[DOI][WoS][Pmid][serval:BIB_709D0DDEDC71]
 
Atelosteogenesis Type 2
Bonafé L., Mittaz Crettol L., Ballhausen D., Superti-Furga A., 2009. pp. online dans Pagon R.A., Bird T.C., Dolan C.R., Stephens K. (eds.) GeneReviews [Internet], University of Washington.
[Pmid][serval:BIB_7A6CC30DDE92]
 
Clostridium perfringens intestinal gas gangrene in a preterm newborn.
Hanke C.A., Hentschel R., Berner R., Timme S., Superti-Furga A., Rückauer K.D., von Schnakenburg C., 2009. European Journal of Pediatric Surgery, 19 (4) pp. 257-259.
[DOI][WoS][Pmid][serval:BIB_794D645444D0]
 
Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.
Kranendijk M., Salomons G.S., Gibson K.M., Aktuglu-Zeybek C., Bekri S., Christensen E., Clarke J., Hahn A., Korman S.H., Mejaski-Bosnjak V. et al., 2009. Journal of Inherited Metabolic Disease, 32 (6) pp. 713-719.
[DOI][WoS][Pmid][serval:BIB_8851BD826773]
 
Drug dosing error with drops: severe clinical course of codeine intoxication in twins.
Hermanns-Clausen M., Weinmann W., Auwärter V., Ferreirós N., Trittler R., Müller C., Pahl A., Superti-Furga A., Hentschel R., 2009. European Journal of Pediatrics, 168 (7) pp. 819-824.
[DOI][Pmid][serval:BIB_115634C23B4C]
 
Early-onset B-streptococci-sepsis and multiorgan failure: successful use of CVVH. [Early-onset B-Streptokokken-Sepsis und Multiorganversagen: erfolgreicher Einsatz einer CVVH]
von Schnakenburg C., Hufnagel M., Superti-Furga A., Rieger-Fackeldey E., Berner R., 2009. p. 110 dans 58. Jahrestagung der Süddeutschen Gesellschaft für Kinderheilkunde und Jugendmedizin gemeinsam mit der Süddeutschen Gesellschaft für Kinderchirugie, Klinische Pädiatrie. Peer-reviewed.
[DOI][WoS][serval:BIB_4E54AAFC97DD]
 
Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.
Hellemans J., Simon M., Dheedene A., Alanay Y., Mihci E., Rifai L., Sefiani A., van Bever Y., Meradji M., Superti-Furga A. et al., 2009. American Journal of Human Genetics, 85 (6) pp. 916-922.
[DOI][Pmid][serval:BIB_98D87CAAE363]
 
Identification of CANT1 mutations in Desbuquois dysplasia.
Huber C., Oulès B., Bertoli M., Chami M., Fradin M., Alanay Y., Al-Gazali L.I., Ausems M.G., Bitoun P., Cavalcanti D.P. et al., 2009. American Journal of Human Genetics, 85 (5) pp. 706-710.
[DOI][Pmid][serval:BIB_E928B4914B23]
 
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.
Furuichi T., Kayserili H., Hiraoka S., Nishimura G., Ohashi H., Alanay Y., Lerena J.C., Aslanger A.D., Koseki H., Cohn D.H. et al., 2009. Journal of Medical Genetics, 46 (8) pp. 562-568.
[DOI][WoS][Pmid][serval:BIB_B3B520174033]
 
Inspiratory stridor and dysphagia in two newborn infants caused by ectopic thymus tissue.
Felgentreff K., Schupp W., Otten J.E., Rückauer K.D., Uhl M., Jüttner E., Superti-Furga A., Pohl M., 2009. European Journal of Pediatrics, 168 (9) pp. 1141-1145.
[DOI][WoS][Pmid][serval:BIB_287D1DCD3F8D]
 
Intestinal gangrene through Clostridium perfringens in drilling preterm births
Hanke C.A., Hentschel R., Berner R., Superti-Furga A., Rueckauer K.D., Von Schnakenburg C., 2009. p. 36 dans 58. Jahrestagung der Süddeutschen Gesellschaft für Kinderheilkunde und Jugendmedizin gemeinsam mit der Süddeutschen Gesellschaft für Kinderchirugie, Klinische Pädiatrie. Peer-reviewed.
[WoS][serval:BIB_8A73555E9351]
 
Is serum procalcitonin a reliable diagnostic marker in children with acute respiratory tract infections? A retrospective analysis.
Schützle H., Forster J., Superti-Furga A., Berner R., 2009. European Journal of Pediatrics, 168 (9) pp. 1117-1124.
[DOI][WoS][Pmid][serval:BIB_9E05FC65F189]
 
Lepirudin treatment in a girl with iliac vein thrombosis, severe pulmonary embolism and suspected heparin-induced thrombocytopenia (HIT) II.
Walter K.N., Erlacher M., Uhl M., Budde U., Nowak G., Superti-Furga A., Zieger B., 2009. Klinische Pädiatrie, 221 (3) pp. 174-175.
[DOI][WoS][Pmid][serval:BIB_468E46B76781]
 
Lobbying für das kranke Kind: Erfahrungen über die Grenze
Superti-Furga Andrea, 2009/01/01. Paediatrica, 20 (2) pp. 61-63.
[serval:BIB_DE3B986DD09B]
 
Mandibuloacral dysplasia type A in childhood.
Garavelli L., D'Apice M.R., Rivieri F., Bertoli M., Wischmeijer A., Gelmini C., De Nigris V., Albertini E., Rosato S., Virdis R. et al., 2009. American Journal of Medical Genetics. Part A, 149A (10) pp. 2258-2264.
[DOI][Pmid][serval:BIB_3CD5DFEF2293]
 
Multiorganversagen bei Early-onset-B-Streptokokkensepsis: Erfolgreicher Einsatz einer kontinuierlichen venovenösen Hämofiltration (CVVH) beim Neugeborenen [Successful continuous renal replacement therapy in a neonate with early-onset group B streptococcal sepsis and multi-organ dysfunction syndrome].
von Schnakenburg C., Hufnagel M., Superti-Furga A., Rieger-Fackeldey E., Berner R., 2009. Klinische Pädiatrie, 221 (4) pp. 251-253.
[DOI][WoS][Pmid][serval:BIB_0A3794D90118]
 
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.
Lausch E., Keppler R., Hilbert K., Cormier-Daire V., Nikkel S., Nishimura G., Unger S., Spranger J., Superti-Furga A., Zabel B., 2009. American Journal of Human Genetics, 85 (2) pp. 168-178.
[DOI][WoS][Pmid][serval:BIB_F68A9DE136FD]
 
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
Campos-Xavier A.B., Martinet D., Bateman J., Belluoccio D., Rowley L., Tan T.Y., Baxová A., Gustavson K.H., Borochowitz Z.U., Innes A.M. et al., 2009. American Journal of Human Genetics, 84 (6) pp. 760-770.
[DOI][WoS][Pmid][serval:BIB_5E5E949BD2E0]
 
Novel findings in two patients with late-diagnosed afibrinogenaemia: intraosseous haemorrhage and fingertip necrosis.
Erlacher M., Heiss J., Hainmann I., Uhl M., Budde U., Oldenburg J., Ivaskevicius V., Al-Jamali J., Zajonc H., Superti-Furga A. et al., 2009. Haemophilia, 15 (4) pp. 980-982.
[DOI][WoS][Pmid][serval:BIB_01E9C7346551]
 
Pseudoprecocious puberty in a 2 1/2-year-old boy caused by a functioning adrenocortical oncocytoma
Van Der Werf-Grohmann N., Kartal M., Kontny U., Rueckauer K.D., Superti-Furga A., Schwab K.O., 2009. p. 350 dans LWPES/ESPE 8th Joint Meeting Global Care in Pediatric Endocrinology in collaboration with APEG, APPES, JSPE and SLEP, Hormone Research. Peer-reviewed.
[WoS][serval:BIB_6DF520F5FE50]
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.
Mari F., Hermanns P., Giovannucci-Uzielli M.L., Galluzzi F., Scott D., Lee B., Renieri A., Unger S., Zabel B., Superti-Furga A., 2009. European Journal of Human Genetics, 17 (9) pp. 1141-1147.
[DOI][WoS][Pmid][serval:BIB_FE324EEF2698]
 
Risk factors of neonatal respiratory distress following vaginal delivery and caesarean section in the German population.
Heinzmann A., Brugger M., Engels C., Prömpeler H., Superti-Furga A., Strauch K., Krueger M., 2009. Acta Paediatrica, 98 (1) pp. 25-30.
[DOI][Pmid][serval:BIB_86A84F0661D2]
Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.
Gygax Marine Jequier, Roulet-Perez Eliane, Meagher-Villemure Kathleen, Jakobs Cornelis, Salomons Gajja S., Boulat Olivier, Superti-Furga Andrea, Ballhausen Diana, Bonafe Luisa, 2009. European Journal of Pediatrics, 168 (8) pp. 957-962. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E40482F93A01]
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.
Hanson D., Murray P.G., Sud A., Temtamy S.A., Aglan M., Superti-Furga A., Holder S.E., Urquhart J., Hilton E., Manson F.D. et al., 2009. American Journal of Human Genetics, 84 (6) pp. 801-806.
[DOI][WoS][Pmid][serval:BIB_D27AD59E764A]
2008
 
TRIP11 is essential for skeletal development
Smits Patrick, Bolton Andrew, Hong Minh, Lu Lei, Superti-Furga Andrea, Ikegawa Shiro, Cohn Daniel, Kirchhausen Tom, Warman Matthew, Beier Dave, 2008/12. Matrix Biology, 27 p. 25.
[DOI][serval:BIB_EB9C7074D279]
 
Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis
Hermanns Pia, Unger Sheila, Rossi Antonio, Perez-Aytes Antonio, Cortina Hector, Bonafé Luisa, Boccone Loredana, Setzu Valeria, Dutoit Michel, Sangiorgi Luca et al., 2008/08. The American Journal of Human Genetics, 83 (2) p. 293.
[DOI][WoS][serval:BIB_8EF220537B56]
 
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.
Unger S., Bonafé L., Superti-Furga A., 2008/03. Best Practice and Research. Clinical rheumatology, 22 (1) pp. 19-32. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5D81AAA67EEA]
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.
Bonafé L., Hästbacka J., de la Chapelle A., Campos-Xavier A.B., Chiesa C., Forlino A., Superti-Furga A., Rossi A., 2008. Journal of Medical Genetics, 45 (12) pp. 827-831. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A13268EEB065]
 
Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency.
Speckmann C., Pannicke U., Wiech E., Schwarz K., Fisch P., Friedrich W., Niehues T., Gilmour K., Buiting K., Schlesier M. et al., 2008. Blood, 112 (10) pp. 4090-4097.
[DOI][WoS][Pmid][serval:BIB_84A31C2F87DF]
 
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.
Nino M., Matos-Miranda C., Maeda M., Chen L., Allanson J., Armour C., Greene C., Kamaluddeen M., Rita D., Medne L. et al., 2008. American Journal of Medical Genetics. Part A, 146A (8) pp. 997-1008.
[DOI][WoS][Pmid][serval:BIB_E4FBA1CB88BA]
 
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis
Hermanns P., Unger S., Rossi A., Perez-Aytes A., Cortina H., Bonafe L., Boccone L., Setzu V., Dutoit M., Sangiorgi L. et al., 2008. American Journal of Human Genetics, 82 (6) pp. 1368-1374. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D4498EE45DC0]
 
Four innovative pediatric curricula: Implementation of the German Medical Education Act 2002. [4 innovative pädiatrische Curricula: Umsetzung der Approbationsordnung 2002.]
Bosse H.M., Gaedicke G., Gross M., Forster J., Hoffmann G.F., Krüger M., Muntau A.C., Reinhardt D., Schatz U.A., Sostmann K. et al., 2008. Monatsschrift für Kinderheilkunde, 156 (5) pp. 436-445. Peer-reviewed.
[DOI][WoS][serval:BIB_35476C4F9343]
 
Holt-Oram syndrome associated with anomalies of the feet.
Garavelli L., De Brasi D., Verri R., Guareschi E., Cariola F., Melis D., Calcagno G., Salvatore F., Unger S., Sebastio G. et al., 2008. American Journal of Medical Genetics. Part A, 146A (9) pp. 1185-1189.
[DOI][Pmid][serval:BIB_F2EA6A92C170]
 
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
Unger S., Böhm D., Kaiser F.J., Kaulfuss S., Borozdin W., Buiting K., Burfeind P., Böhm J., Barrionuevo F., Craig A. et al., 2008. Nature Genetics, 40 (3) pp. 287-289.
[DOI][Pmid][serval:BIB_CAD35E59F8A6]
 
Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia.
Konstantinidou A., Karadimas C., Waterham H.R., Superti-Furga A., Kaminopetros P., Grigoriadou M., Kokotas H., Agrogiannis G., Giannoulia-Karantana A., Patsouris E. et al., 2008. Prenatal Diagnosis, 28 (4) pp. 309-312.
[DOI][WoS][Pmid][serval:BIB_67A6FA9494DE]
 
Somatic reversion in a patient with X-linked SCID: a limited cure?
Speckmann C., Pannicke U., Nikolopoulos E., Schwarz K., Fisch P., Friedrich W., Niehues T., Gilmour K., Buiting K., Schlesier M. et al., 2008. p. 40 dans 13th Meeting of the European Society for Immunology, Clinical and Experimental Immunology. Peer-reviewed.
[WoS][serval:BIB_43321C22E9BC]
 
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome.
Lausch E., Hermanns P., Farin H.F., Alanay Y., Unger S., Nikkel S., Steinwender C., Scherer G., Spranger J., Zabel B. et al., 2008. American Journal of Human Genetics, 83 (5) pp. 649-655.
[DOI][WoS][Pmid][serval:BIB_7490303FB7A8]
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.
Fukada T., Civic N., Furuichi T., Shimoda S., Mishima K., Higashiyama H., Idaira Y., Asada Y., Kitamura H., Yamasaki S. et al., 2008. PLoS ONE, 3 (11) pp. e3642. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_CAB4765ADCFE]
 
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4.
Steichen-Gersdorf E., Gassner I., Superti-Furga A., Ullmann R., Stricker S., Klopocki E., Mundlos S., 2008. Clinical Genetics, 74 (6) pp. 560-565.
[DOI][WoS][Pmid][serval:BIB_774F5E8D78AD]
2007
 
A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: comment on "A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia" by M.L. Kulkarni, K. Baskar, and P.M. Kulkarni [2006].
Renella R., Superti-Furga A., 2007/06/15. American journal of medical genetics. Part A, 143A (12) pp. 1394-1395. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_30078E4E8050]
 
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia
Zankl A., Jackson G. C., Crettol L. M., Taylor J., Elles R., Mortier G. R., Spranger J., Zabel B., Unger S., Merrer M. L. et al., 2007/02. European Journal of Human Genetics, 15 (2) pp. 150-4. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_34DE6D1A72A6]
 
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome
Zankl A., Pachman L., Poznanski A., Bonafe L., Wang F., Shusterman Y., Fishman D. A., Superti-Furga A., 2007/02. Journal of Bone and Mineral Research, 22 (2) pp. 329-33. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_920E040FAB0F]
 
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father.
Forzano F., Lituania M., Viassolo A., Superti-Furga V., Wildhardt G., Zabel B., Faravelli F., 2007. American Journal of Medical Genetics. Part A, 143A (23) pp. 2815-2820.
[DOI][WoS][Pmid][serval:BIB_1D4F9BDA1494]
 
Angeborene Entwicklungsstörungen des Skeletts
Spranger J., Superti-Furga A., 2007. pp. 1617-1645 dans Pädiatrie, Springer Berlin Heidelberg.
[DOI][serval:BIB_D2E7B17E8FE4]
 
COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.
Walter K., Tansek M., Tobias E.S., Ikegawa S., Coucke P., Hyland J., Mortier G., Iwaya T., Nishimura G., Superti-Furga A. et al., 2007. American Journal of Medical Genetics. Part A, 143 (2) pp. 161-167.
[DOI][WoS][Pmid][serval:BIB_3A0663CD6A53]
 
Duane anomaly, meningomyelocele, dextroposition of heart and localized vertebrocostal alterations with associated anomalies in a girl.
Cogulu O., Gunduz C., Karaca E., Onay H., Superti-Furga A., Ozkinay F., 2007. Genetic Counseling, 18 (1) pp. 77-83.
[WoS][Pmid][serval:BIB_652FA92BBBF2]
 
Early atherosclerosis in childhood type 1 diabetes: role of raised systolic blood pressure in the absence of dyslipidaemia.
Schwab K.O., Doerfer J., Krebs A., Krebs K., Schorb E., Hallermann K., Superti-Furga A., Zieger B., März W., Schmidt-Trucksäss A. et al., 2007. European Journal of Pediatrics, 166 (6) pp. 541-548.
[DOI][WoS][Pmid][serval:BIB_B0CA0716316B]
 
Filamin A mutation is one cause of FG syndrome.
Unger S., Mainberger A., Spitz C., Bähr A., Zeschnigk C., Zabel B., Superti-Furga A., Morris-Rosendahl D.J., 2007. American Journal of Medical Genetics. Part A, 143A (16) pp. 1876-1879.
[DOI][WoS][Pmid][serval:BIB_4DECC63BD15C]
 
Homozygous deletion of GPIb beta and SEPT5 genes: a new contiguous gene syndrome?
Hainmann I, Bartsch I, Blaeser S., Lanza F., Nurden P., Busse A., Pavlova A., Oldenburg J., Superti-Furga A., Zieger B., 2007. p. 280 dans 43rd Workshop for Paediatric Research, European Journal of Pediatrics. Peer-reviewed.
[WoS][serval:BIB_041AE8D64974]
 
Is NF1 a genetic skeletal disorder?' - A response
Unger S., Superti-Furga A., 2007. American Journal of Medical Genetics. Part A, 143A (17) p. 2084. Peer-reviewed.
[DOI][WoS][serval:BIB_156498476B2D]
 
L1CAM mutation in a boy with hydrocephalus and duplex kidneys.
Liebau M.C., Gal A., Superti-Furga A., Omran H., Pohl M., 2007. Pediatric Nephrology, 22 (7) pp. 1058-1061.
[DOI][WoS][Pmid][serval:BIB_016AD14649A9]
 
Nosology and classification of genetic skeletal disorders: 2006 revision.
Superti-Furga A., Unger S., 2007. American Journal of Medical Genetics. Part A, 143 (1) pp. 1-18.
[DOI][WoS][Pmid][serval:BIB_B9FEBCB86C12]
 
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.
Hiraoka S., Furuichi T., Nishimura G., Shibata S., Yanagishita M., Rimoin D.L., Superti-Furga A., Nikkels P.G., Ogawa M., Katsuyama K. et al., 2007. Nature Medicine, 13 (11) pp. 1363-1367.
[DOI][Pmid][serval:BIB_912BB0C4F550]
 
Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.
Chitayat D., Shannon P., Keating S., Toi A., Blaser S., Friedberg T., Superti-Furga A., Chong K., Unger S., 2007. American Journal of Medical Genetics. Part A, 143A (24) pp. 3280-3285.
[DOI][WoS][Pmid][serval:BIB_3F3178F72A89]
 
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.
Nishimura G., Nakashima E., Hirose Y., Cole T., Cox P., Cohn D.H., Rimoin D.L., Lachman R.S., Miyamoto Y., Kerr B. et al., 2007. Journal of Medical Genetics, 44 (4) pp. e73.
[DOI][WoS][Pmid][serval:BIB_85C3B1985AE0]
2006
 
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
Robertson Stephen P., Jenkins Zandra A., Morgan Timothy, Adès Lesley, Aftimos Salim, Boute Odile, Fiskerstrand Torunn, Garcia-Miñaur Sixto, Grix Arthur, Green Andrew et al., 2006/12/15. American Journal of Medical Genetics Part A, 140A (24) pp. 2840-2840.
[DOI][WoS][serval:BIB_43618C8432B6]
 
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder
Renella R., Schaefer E., LeMerrer M., Alanay Y., Kandemir N., Eich G., Costa T., Ballhausen D., Boltshauser E., Bonafe L. et al., 2006/03. American Journal of Medical Genetics. Part A, 140 (6) pp. 541-50. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2D9B0A20E958]
 
Skeletal Dysplasias: Genetics
Superti-Furga Andrea, Unger Sheila, 2006/01/27. eLS.
[DOI][serval:BIB_3C9B51617496]
 
Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review.
Garavelli L., Pedori S., Dal Zotto R., Franchi F., Marinelli M., Croci G.F., Bellato S., Ammenti A., Virdis R., Banchini G. et al., 2006. Genetic Counseling, 17 (4) pp. 449-455.
[WoS][Pmid][serval:BIB_C8A85D56E2E4]
 
Atlantoaxial subluxation in Morquio A
Gallagher R.C., Bober M., Philippart M., Superti-Furga A., Philippart M., 2006. Journal of Inherited Metabolic Disease, 29 (6) p. 771. Peer-reviewed.
[WoS][serval:BIB_2A668F8C5C5D]
 
Deletion of two contiguous genes, platelet GPIb beta (Glycoprotein Ib beta) and septin SEPT5, in a boy with Bernard-soulier syndrome and developmental delay: A possible new contiguous gene syndrome.
Bartsch I., Hainmann I., Blaser S., Pavlova A., Oldenburg J., Busse A., Lanza F., Nurden P., Superti-Furga A., Zieger B., 2006. p. 1097 dans 48th Annual Meeting of the American Society of Hematology, Blood. Peer-reviewed.
[WoS][serval:BIB_300F3CAF2B4A]
 
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
Robertson S.P., Jenkins Z.A., Morgan T., Adès L., Aftimos S., Boute O., Fiskerstrand T., Garcia-Miñaur S., Grix A., Green A. et al., 2006. American Journal of Medical Genetics. Part A, 140 (16) pp. 1726-1736.
[DOI][WoS][Pmid][serval:BIB_BB7CA0352043]
 
Genetic polymorphisms of chitotriosidase in Caucasian children with bronchial asthma.
Bierbaum S., Superti-Furga A., Heinzmann A., 2006. International Journal of Immunogenetics, 33 (3) pp. 201-204.
[DOI][WoS][Pmid][serval:BIB_8873355A0258]
 
In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation.
Pecora F., Gualeni B., Forlino A., Superti-Furga A., Tenni R., Cetta G., Rossi A., 2006. Biochemical Journal, 398 (3) pp. 509-514.
[DOI][WoS][Pmid][serval:BIB_4301E81BE975]
 
Insights from a transgenic mouse model on the role of SLC26A2 in health and disease.
Forlino A., Gualeni B., Pecora F., Della Torre S., Piazza R., Tiveron C., Tatangelo L., Superti-Furga A., Cetta G., Rossi A., 2006. Novartis Foundation symposium, 273 pp. 193-206; discussion 206-12,261-264. Peer-reviewed.
[Pmid][serval:BIB_F5D18543A0FA]
 
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.
Sass J.O., Mohr V., Olbrich H., Engelke U., Horvath J., Fliegauf M., Loges N.T., Schweitzer-Krantz S., Moebus R., Weiler P. et al., 2006. American Journal of Human Genetics, 78 (3) pp. 401-409.
[DOI][WoS][Pmid][serval:BIB_8EC385998F6A]
 
Mutations in two regions of FLNB result in atelosteogenesis I and III.
Farrington-Rock C., Firestein M.H., Bicknell L.S., Superti-Furga A., Bacino C.A., Cormier-Daire V., Le Merrer M., Baumann C., Roume J., Rump P. et al., 2006. Human Mutation, 27 (7) pp. 705-710.
[DOI][WoS][Pmid][serval:BIB_DD37ED91C6CC]
 
Spondylo-ocular syndrome: a new entity involving the eye and spine.
Alanay Y., Superti-Furga A., Karel F., Tunçbilek E., 2006. American Journal of Medical Genetics. Part A, 140 (6) pp. 652-656.
[DOI][Pmid][serval:BIB_F549B8684D09]
 
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.
Hoornaert K.P., Dewinter C., Vereecke I., Beemer F.A., Courtens W., Fryer A., Fryssira H., Lees M., Müllner-Eidenböck A., Rimoin D.L. et al., 2006. Journal of Medical Genetics, 43 (5) pp. 406-413.
[DOI][WoS][Pmid][serval:BIB_37230]
2005
 
Diagnosis of atelosteogenesis type II after a routine echography at 12 weeks' pregnancy
Fernandez-Aguilar S., Noel J. C., Van Regemorter N., Superti-Furga A., Bonafe L., Donner C., 2005/08. Prenatal Diagnosis, 25 (8) pp. 717-8. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_537C4F76B0C9]
 
Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location
Tan T. Y., McGillivray G., Kornman L., Fink A. M., Superti-Furga A., Bonafe L., Francis D. I., Savarirayan R., 2005/06. American Journal of Medical Genetics. Part A, 135 (3) pp. 324-7. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_78DC4BCD37E8]
 
Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)
Lobrinus J. A., Schorderet D. F., Payot M., Jeanrenaud X., Bottani A., Superti-Furga A., Schlaepfer J., Fromer M., Jeannet P. Y., 2005/04. Neuromuscular Disorders, 15 (4) pp. 293-8.
[DOI][WoS][Pmid][serval:BIB_07972D894995]
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype.
Forlino A., Piazza R., Tiveron C., Della Torre S., Tatangelo L., Bonafè L., Gualeni B., Romano A., Pecora F., Superti-Furga A. et al., 2005/03. Human Molecular Genetics, 14 (6) pp. 859-871.
[URN][DOI][WoS][Pmid][serval:BIB_686F0B905551]
 
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.
Zankl A., Bonafé L., Calcaterra V., Di Rocco M., Superti-Furga A., 2005/03. Clinical Genetics, 67 (3) pp. 261-266. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_B5EDDC543658]
 
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies
Zankl A., Neumann L., Ignatius J., Nikkels P., Schrander-Stumpel C., Mortier G., Omran H., Wright M., Hilbert K., Bonafe L. et al., 2005/02. American Journal of Medical Genetics. Part A, 133 (1) pp. 61-7. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_74DCE3145009]
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
Bonafé L., Dermitzakis E.T., Unger S., Greenberg C.R., Campos-Xavier B.A., Zankl A., Ucla C., Antonarakis S.E., Superti-Furga A., Reymond A., 2005. Plos Genetics, 1 (4) pp. e47. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_CC6ABC66BB92]
 
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene.
Balmer C., Ballhausen D., Bosshard N.U., Steinmann B., Boltshauser E., Bauersfeld U., Superti-Furga A., 2005. European Journal of Pediatrics, 164 (8) pp. 509-514.
[DOI][WoS][Pmid][serval:BIB_44DD9202A428]
 
Gamma-hydroxybutyric acid.
Sass J.O., Superti-Furga A., 2005. New England Journal of Medicine, 353 (15) pp. 1632-1633.
[DOI][WoS][Pmid][serval:BIB_A2C1FCEC60FA]
 
Identification of mutations in CUL7 in 3-M syndrome.
Huber C., Dias-Santagata D., Glaser A., O'Sullivan J., Brauner R., Wu K., Xu X., Pearce K., Wang R., Uzielli M.L. et al., 2005. Nature Genetics, 37 (10) pp. 1119-1124. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_37232]
 
Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation
Bayar A., Acun C., Dursun A., Verhoeven N., Bonafe L., Keser S., Superti-Furga A., 2005/01. Clinical Dysmorphology, 14 (1) pp. 7-11. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_21D27D9D1BAF]
Mucolipidosis II presenting as severe neonatal hyperparathyroidism.
Unger S., Paul D.A., Nino M.C., McKay C.P., Miller S., Sochett E., Braverman N., Clarke J.T., Cole D.E., Superti-Furga A., 2005. European Journal of Pediatrics, 164 (4) pp. 236-243. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_33169]
 
Polymorphisms and haplotypes of acid mammalian chitinase are associated with bronchial asthma.
Bierbaum S., Nickel R., Koch A., Lau S., Deichmann K.A., Wahn U., Superti-Furga A., Heinzmann A., 2005. American Journal of Respiratory and Critical Care Medicine, 172 (12) pp. 1505-1509.
[DOI][Pmid][serval:BIB_5A4AA7992CAC]
2004
 
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
Ha-Vinh R., Alanay Y., Bank R. A., Campos-Xavier A. B., Zankl A., Superti-Furga A., Bonafe L., 2004/12. American Journal of Medical Genetics. Part A, 131 (2) pp. 115-20. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_238317094008]
 
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.
Zankl A., Zabel B., Hilbert K., Wildhardt G., Cuenot S., Xavier B., Ha-Vinh R., Bonafé L., Spranger J., Superti-Furga A., 2004/08. American Journal of Medical Genetics. Part A, 129A (2) pp. 144-148. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_1F3764ED6581]
 
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
Krakow D., Robertson S. P., King L. M., Morgan T., Sebald E. T., Bertolotto C., Wachsmann-Hogiu S., Acuna D., Shapiro S. S., Takafuta T. et al., 2004/04. Nature Genetics, 36 (4) pp. 405-10. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_42D3941EAAC8]
 
Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy
Ehl S., Uhl M., Berner R., Bonafe L., Superti-Furga A., Kirchhoff A., 2004/01. Rheumatology International, 24 (1) pp. 53-6. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_4A7A3B38A062]
 
Diastrophic Dysplasia
Bonafé L., Mittaz-Crettol L., Ballhausen D., Superti-Furga A., 2004. <?xml Vers p. 18. Peer-reviewed.
[Pmid][serval:BIB_04DC82AB4086]
 
First trimester ultrasound detection of diastrophic dysplasia associated with increased nuchal translucency.
Quercia N., Ryan G., Kingdom J., Bonafe L., Superti-Furga A., Unger S., 2004. p. 368 dans Annual Clinical Meeting of the American College of Medical Genetics, Genetics in Medicine. Peer-reviewed.
[WoS][serval:BIB_975DA70E4237]
 
Growing bone knowledge.
Superti-Furga A., 2004. Clinical Genetics, 66 (5) pp. 399-401.
[DOI][WoS][Pmid][serval:BIB_33146]
 
Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.
Zankl A., Jaeger G., Bonafé L., Boltshauser E., Superti-Furga A., 2004. American journal of medical genetics. Part A, 131 (3) pp. 299-300. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_6BDD7112100A]
 
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
Dagoneau N., Scheffer D., Huber C., Al-Gazali L.I., Di Rocco M., Godard A., Martinovic J., Raas-Rothschild A., Sigaudy S., Unger S. et al., 2004. American Journal of Human Genetics, 74 (2) pp. 298-305.
[DOI][WoS][Pmid][serval:BIB_33142]
 
Skelettdysplasien mit Mutationen im Sulfat Transporter Gen – das DTDST Spektrum.
Zankl Andreas, Bonafé Luisa, Superti-Furga Andrea, 2004. Medizinischegenetik, 16 (1) pp. 32--38.
[serval:BIB_39BB7850F927]
2003
 
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations
Jakkula E., Lohiniva J., Capone A., Bonafe L., Marti M., Schuster V., Giedion A., Eich G., Boltshauser E., Ala-Kokko L. et al., 2003/12. Journal of Medical Genetics, 40 (12) pp. 942-8. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_90B153667C04]
 
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign
Makitie O., Savarirayan R., Bonafe L., Robertson S., Susic M., Superti-Furga A., Cole W. G., 2003/10. American Journal of Medical Genetics. Part A, 122 (3) pp. 187-92. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D3F82D0A707A]
 
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village
Bonafe L., Giunta C., Gassner M., Steinmann B., Superti-Furga A., 2003/07. Clinical Genetics, 64 (1) pp. 28-35. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5982EEFE3A6E]
 
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
Robertson S.P., Twigg S.R., Sutherland-Smith A.J., Biancalana V., Gorlin R.J., Horn D., Kenwrick S.J., Kim C.A., Morava E., Newbury-Ecob R. et al., 2003/04. Nature genetics, 33 (4) pp. 487-491. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_DE58C2F88502]
An 11-month-old boy with psychomotor regression and auto-aggressive behaviour.
Chrysochoou Christina, Rutishauser Christoph, Rauber-Lüthy Christine, Neuhaus Thomas, Boltshauser Eugen, Superti-Furga Andrea, 2003. European Journal of Pediatrics, 162 (7-8) pp. 559-561. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_29675]
Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution.
Superti-Furga A., 2003. European Journal of Pediatrics, 162 (Suppl. 1) pp. 17-20. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_29685]
 
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.
Grafakou O., Oexle K., van den Heuvel L., Smeets R., Trijbels F., Goebel H.H., Bosshard N., Superti-Furga A., Steinmann B., Smeitink J., 2003. European Journal of Pediatrics, 162 (10) pp. 714-718. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_29678]
 
Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia.
Di Rocco M., Stella G., Bruno C., Doria Lamba L., Bado M., Superti-Furga A., 2003. American Journal of Medical Genetics. Part A, 118A (4) pp. 362-368. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_29676]
 
Mutations at the RMRP (Cartilage-hair hypoplasia) gene: Haplotyping and comparative genomics.
Bonafe L., Dermitzakis E.T., Antonarakis S.E., Superti-Furga A., Reymond A., 2003. p. 585 dans Annual Meeting of the American Society of Human Genetics, American Journal of Human Genetics. Peer-reviewed.
[WoS][serval:BIB_9E7F325B03BB]
 
Mutations in capillary morphogenesis protein 2 cause hyaline deposition disorders
Rahman N., Hanks S., Adams S., Douglas J., Pope M., Superti-Furga A., Futreal A., Rahman N., 2003. pp. S26 dans British Human Genetics Conference, Journal of Medical Genetics. Peer-reviewed.
[WoS][serval:BIB_23AF718C9209]
 
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
Rutsch F., Ruf N., Vaingankar S., Toliat M.R., Suk A., Höhne W., Schauer G., Lehmann M., Roscioli T., Schnabel D. et al., 2003. Nature Genetics, 34 (4) pp. 379-381.
[DOI][WoS][Pmid][serval:BIB_4530FBF55155]
 
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Hanks S., Adams S., Douglas J., Arbour L., Atherton D.J., Balci S., Bode H., Campbell M.E., Feingold M., Keser G. et al., 2003. American Journal of Human Genetics, 73 (4) pp. 791-800.
[DOI][WoS][Pmid][serval:BIB_0BA512EB6CD5]
 
Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation.
Bruder E., Stallmach T., Peier K., Superti-Furga A., Vezzoni P., 2003. Pediatric pathology & molecular medicine, 22 (1) pp. 3-9. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_29674]
 
Prenatal diagnosis of boomerang dysplasia.
Wessels M.W., Den Hollander N.S., De Krijger R.R., Bonafé L., Superti-Furga A., Nikkels P.G., Willems P.J., 2003. American journal of medical genetics. Part A, 122A (2) pp. 148-154. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_29682]
 
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
Ballhausen D., Bonafe L., Terhal P., Unger S. L., Bellus G., Classen M., Hamel B. C., Spranger J., Zabel B., Cohn D. H. et al., 2003/01. Journal of Medical Genetics, 40 (1) pp. 65-71. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2B32349A8D48]
2002
 
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.
Kiehntopf M., Schickel J., Gönne Bv, Koch H.G., Superti-Furga A., Steinmann B., Deufel T., Harms E., 2002/09. Human mutation, 20 (3) p. 237. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2310666F76A9]
 
DTDST mutations are not a frequent cause of idiopathic talipes equinovarus (club foot).
Bonafé L., Blanton S.H., Scott A., Broussard S., Wise C.A., Superti-Furga A., Hecht J.T., 2002/04. Journal of medical genetics, 39 (4) pp. e20. Peer-reviewed.
[DOI][Pmid][serval:BIB_F9E1B6807A67]
 
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms
Bonafe L., Schmitt K., Eich G., Giedion A., Superti-Furga A., 2002/02. Clinical Genetics, 61 (2) pp. 146-51. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_FC05916E6145]
 
Achondrogenesis Type 1B.
Bonafé L., Mittaz Crettol L., Ballhausen D., Superti-Furga A., 2002. pp. online dans Pagon R.A., Bird T.C., Dolan C.R., Stephens K. (eds.) GeneReviews [Internet], University of Washington.
[Pmid][serval:BIB_92793DE867B3]
 
Autosomal recessive spondylocostal dysostosis: Three new pathogenic alleles in DLL3 gene.
Bonafe L., Giunta C., Gassner M., Steinmann B., Superti-Furga A., 2002. p. 212 dans 52nd Annual Meeting of the American Society of Human Genetics, American Journal of Human Genetics. Peer-reviewed.
[WoS][serval:BIB_1F910F54E36F]
 
Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia.
Kölble N., Sobetzko D., Ersch J., Stallmach T., Eich G., Huch R., Huch A., Superti-Furga A., Wisser J., 2002. Ultrasound In Obstetrics and Gynecology, 19 (1) pp. 92-98.
[DOI][WoS][Pmid][serval:BIB_031A9D77F48F]
 
Hyperammonaemic encephalopathy in a 13-year-old boy.
Laube G.F., Superti-Furga A., Losa M., Büttiker V., Berger C., Neuhaus T.J., 2002. European Journal of Pediatrics, 161 (3) pp. 163-164.
[DOI][Pmid][serval:BIB_5A44BFE65DF7]
 
Preliminary characterization of a mouse model of diastrophic dysplasia.
Rossi A., Tiveron C., Piazza R., Superti-Furga A., Tatangelo L., Della Torre S., Forlino A., Cetta G., 2002. p. 427 dans 52nd Annual Meeting of the American Society of Human Genetics, American Journal of Human Genetics. Peer-reviewed.
[WoS][serval:BIB_5B3F5BF7F16F]
 
Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal.
Landolt M.A., Nuoffer J.M., Steinmann B., Superti-Furga A., 2002. Journal of Pediatrics, 140 (5) pp. 516-521. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_25385]
 
RMRP gene mutations and clinical presentation of cartilage-hair hypoplasia: Extensive allelic heterogeneity and lack of genotype-phenotype correlations indicate modifier genes.
Superti-Furga A., Atkinson A., Kirk E., Unger S., DiRocco M., Savarirayan R., Mortier G., Zabel B., Ziegler J., Roifman C. et al., 2002. p. 526 dans 52nd Annual Meeting of the American Society of Human Genetics, American Journal of Human Genetics. Peer-reviewed.
[WoS][serval:BIB_9C2A75634319]
 
Stuve-Wiedemann syndrome in long-term survivors: a neuro-myo-skeletal disorder with prominent neurovegetative features
Di Rocco M., Stella G., Bruno C., Lamba L.D., Bado M., Superti-Furga A., 2002. p. 134 dans European Society of Human Genetics European Human Genetics Conference in conjuction with European Meeting on Psychosocial Aspects of Genetics, European Journal of Human Genetics. Peer-reviewed.
[WoS][serval:BIB_9F6E1652A218]
 
The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.
Rahman N., Dunstan M., Teare M.D., Hanks S., Edkins S.J., Hughes J., Bignell G.R., Mancini G., Kleijer W., Campbell M. et al., 2002. American Journal of Human Genetics, 71 (4) pp. 975-980.
[DOI][WoS][Pmid][serval:BIB_D0DEEEC4BC16]
Vorzeitig generalisierte Polyarthrose (Stickler Syndrom) [Early-onset generalized polyarthritis (Stickler syndrome)].
Mach J., Sobetzko D., Superti-Furga A., Stoll T., 2002. Praxis, 91 (9) pp. 361-366.
[DOI][Pmid][serval:BIB_2643EA031C8D]
2001
 
The mutational spectrum of human malignant autosomal recessive osteopetrosis.
Sobacchi C., Frattini A., Orchard P., Porras O., Tezcan I., Andolina M., Babul-Hirji R., Baric I., Canham N., Chitayat D. et al., 2001/08/15. Human molecular genetics, 10 (17) pp. 1767-1773. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_FF558231CCD8]
 
Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific.
Fingerhut R., Röschinger W., Muntau A.C., Dame T., Kreischer J., Arnecke R., Superti-Furga A., Troxler H., Liebl B., Olgemöller B. et al., 2001. Clinical Chemistry, 47 (10) pp. 1763-1768.
[WoS][Pmid][serval:BIB_1C08E9C06E3A]
 
Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature.
Stucki U., Spycher M.A., Eich G., Rossi A., Sacher P., Steinmann B., Superti-Furga A., 2001. American Journal of Medical Genetics, 100 (2) pp. 122-129.
[WoS][Pmid][serval:BIB_7C663A017C27]
 
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
Gong Y., Slee R.B., Fukai N., Rawadi G., Roman-Roman S., Reginato A.M., Wang H., Cundy T., Glorieux F.H., Lev D. et al., 2001. Cell, 107 (4) pp. 513-523.
[WoS][Pmid][serval:BIB_A3D193A7D6F3]
 
Molecular-pathogenetic classification of genetic disorders of the skeleton.
Superti-Furga A., Bonafé L., Rimoin D.L., 2001. American Journal of Medical Genetics, 106 (4) pp. 282-293. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_A304C9F2A9B7]
 
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
Rossi A., Superti-Furga A., 2001. Human Mutation, 17 (3) pp. 159-171.
[DOI][Pmid][serval:BIB_BBD876319060]
 
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias.
Unger S., Le Merrer M., Meinecke P., Chitayat D., Rossi A., Superti-Furga A., 2001. Pediatric Radiology, 31 (12) pp. 893-894.
[DOI][Pmid][serval:BIB_3E260DB04F80]
 
Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.
Santer R., Kinner M., Passarge M., Superti-Furga A., Mayatepek E., Meissner T., Schneppenheim R., Schaub J., 2001. Human Genetics, 108 (1) pp. 66-71.
[WoS][Pmid][serval:BIB_5AC98D6E3A49]
 
PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification.
Rutsch F., Vaingankar S., Johnson K., Goldfine I., Maddux B., Schauerte P., Kalhoff H., Sano K., Boisvert W.A., Superti-Furga A. et al., 2001. American Journal of Pathology, 158 (2) pp. 543-554.
[DOI][Pmid][serval:BIB_EB538C35F2FE]
2000
 
A 17-month-old boy with bowed legs.
Baric I., Skrabic V., Begovic D., Sarnavka V., Superti-Furga A., 2000/11. European journal of pediatrics, 159 (11) pp. 863-865. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9794FEECD1B4]
 
A multiplicity of loci for multiple epiphyseal dysplasia.
Unger S.L., King L.M., Sobetzko D., Superti-Furga A., Cohn D.H., 2000. p. 371 dans 50th Annual Meeting of the American Society of Human Genetics, American Journal of Human Genetics. Peer-reviewed.
[WoS][serval:BIB_A7645DDA9BCD]
 
Achondroplasia with the FGFR3 1138g--&gt;a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father.
Sobetzko D., Braga S., Rüdeberg A., Superti-Furga A., 2000. Journal of Medical Genetics, 37 (12) pp. 958-959.
[WoS][Pmid][serval:BIB_11B43B1A1C0A]
 
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
Melkoniemi M., Brunner H.G., Manouvrier S., Hennekam R., Superti-Furga A., Kääriäinen H., Pauli R.M., van Essen T., Warman M.L., Bonaventure J. et al., 2000. American Journal of Human Genetics, 66 (2) pp. 368-377.
[DOI][WoS][Pmid][serval:BIB_E987AA2E69D6]
 
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.
Sobetzko D., Eich G., Kalff-Suske M., Grzeschik K.H., Superti-Furga A., 2000. American Journal of Medical Genetics, 90 (3) pp. 239-242.
[WoS][Pmid][serval:BIB_9F197C8F5F8D]
 
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
Pepin M., Schwarze U., Superti-Furga A., Byers P.H., 2000. New England Journal of Medicine, 342 (10) pp. 673-680.
[DOI][WoS][Pmid][serval:BIB_9FAA5D37AF0B]
 
Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling.
Faber J., Winterpacht A., Zabel B., Gnoinski W., Schinzel A., Steinmann B., Superti-Furga A., 2000. Journal of Medical Genetics, 37 (4) pp. 318-320.
[WoS][Pmid][serval:BIB_4C1B098123F7]
 
Otopalatodigital syndrome and frontometaphyseal dysplasia, splitters and lumpers, and paternity of ideas.
Superti-Furga A., 2000. American Journal of Medical Genetics, 95 (1) p. 86.
[WoS][Pmid][serval:BIB_689277BB8989]
 
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation twelve individuals homozygous for DTDST mutation R279W.
Superti-Furga A., Hecht J., Unger S., Cole W., Hamel B., Bellus G., Classen M., LeMerrer M., Zabel B., Langer L et al., 2000. p. 379 dans 50th Annual Meeting of the American Society of Human Genetics, American Journal of Human Genetics. Peer-reviewed.
[WoS][serval:BIB_FE153E417420]
1999
 
An inactivating truncation mutation of the inorganic pyrophosphate (PPi)-generating nucleotide pyrophosphatase (NTPPPH) B10 is associated with spontaneous diffuse matrix calcification of arteries and periarticular ligaments (idiopathic infantile arterial calcification: IIAC).
Rutsch F., Vaingankar S., Johnson K.A., Schauerte P., Kalhoff H., Superti-Furga A., Terkeltaub R., 1999. pp. S173 dans 21st Annual Meeting of the American Society for Bone and Mineral Research, Journal of Bone and Mineral Research. Peer-reviewed.
[WoS][serval:BIB_FCBFE6779B55]
 
Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation.
Nishi Y., Atley L., Eyre D.E., Edelson J.G., Superti-Furga A., Yasuda T., Desnick R.J., Gelb B.D., 1999. Journal of Bone and Mineral Research, 14 (11) pp. 1902-1908.
[DOI][WoS][Pmid][serval:BIB_F1F0D16D299C]
 
Ehlers-Danlos syndrome type VII: clinical features and molecular defects.
Giunta C., Superti-Furga A., Spranger S., Cole W.G., Steinmann B., 1999. Journal of Bone and Joint Surgery. American Volume, 81 (2) pp. 225-238.
[Pmid][serval:BIB_028B796D98AD]
 
Familial syndrome of infantile polycythemia with markedly elevated erythropoietin, pulmonary hypertension and intrapulmonary hematopoiesis - an "inappropriate" hypoxic response?
Schmugge M., Arbenz U., Wenger R.H., Gassmann M., Stallmach T., Eber S., Superti-Furga A., 1999. pp. 413A dans 41st Annual Meeting of the American Society of Hematology, Blood. Peer-reviewed.
[WoS][serval:BIB_2A66267CB371]
 
Familial syndrome of infantile polycythemia with markedly elevated erythropoietin, severe pulmonary hypertension, and intrapulmonary hematopoiesis - an "inapropriate'' hypoxic response?
Schmugge M., Arbenz U., Stallmach T., Wiesner A., Tolle S., Stocker S., Gungor T., Neuhaus T., Burger R., Schoenle E. et al., 1999. p. 917 dans Annual Meeting of the European Society for Paediatric Research, Pediatric Research. Peer-reviewed.
[WoS][serval:BIB_5BED395C4211]
 
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.
Mégarbané A., Haddad F.A., Haddad-Zebouni S., Achram M., Eich G., Le Merrer M., Superti-Furga A., 1999. Clinical Genetics, 56 (1) pp. 71-76.
[Pmid][serval:BIB_2BAA6718C884]
 
Kniest dysplasia: Clinical, pathologic, and molecular findings in a severely affected patient - And review of the literature
Faber J, Winterpacht A, Zabel B, Eich G, Spycher MA, Briner J, Giunta C, Superti-Furga A, Steinmann B, 1999. Pediatric Pathology & Molecular Medicine, 18 (3) pp. 187-206. Peer-reviewed.
[WoS][serval:BIB_8A7B6D2EEF7E]
 
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.
Hurvitz J.R., Suwairi W.M., Van Hul W., El-Shanti H., Superti-Furga A., Roudier J., Holderbaum D., Pauli R.M., Herd J.K., Van Hul E.V. et al., 1999. Nature Genetics, 23 (1) pp. 94-98.
[DOI][WoS][Pmid][serval:BIB_571192BE5763]
 
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
Kalff-Suske M., Wild A., Topp J., Wessling M., Jacobsen E.M., Bornholdt D., Engel H., Heuer H., Aalfs C.M., Ausems M.G. et al., 1999. Human Molecular Genetics, 8 (9) pp. 1769-1777.
[WoS][Pmid][serval:BIB_EB411BEFB643]
 
Progressive pseudorheumatoid dysplasia (PPD) is caused by mutation in the CCN family member WISP3.
Warman M.L., Hurvitz J.R., Suwairi W.M., Van Hul W., El-Shanti H., Superti-Furga A., Roudier J., Holderbaum D., Pauli R.M., Herd J.K. et al., 1999. pp. A48 dans 49th Annual Meeting of the American Society of Human Genetics, American Journal of Human Genetics. Peer-reviewed.
[WoS][serval:BIB_D252F33DC438]
 
Prolonged survival in a case of atelosteogenesis type 2.
Siu V.M., Gordon B.A., Ouellette Y., Superti-Furga A., 1999. pp. A345 dans 49th Annual Meeting of the American Society of Human Genetics, American Journal of Human Genetics. Peer-reviewed.
[WoS][serval:BIB_47B1FCB505B1]
 
Psychological adjustment and quality of life in children and adolescents with early treated phenylketonuria
Landolt M.A., Steinmann B., Superti-Furga A., 1999. p. 910 dans Annual Meeting of the European Society for Paediatric Research, Pediatric Research. Peer-reviewed.
[WoS][serval:BIB_118BE1974337]
 
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.
Superti-Furga A., Neumann L., Riebel T., Eich G., Steinmann B., Spranger J., Kunze J., 1999. Journal of Medical Genetics, 36 (8) pp. 621-624.
[Pmid][serval:BIB_DBB51042DA95]
 
The matrix GLA protein gene: Two polymorphisms, but no pathogenic mutation, in a patient with idiopathic arterial calcification of infancy.
Knisely AS, Gannuch G.M., Rossi A., Steinmann B., Superti-Furga A., 1999. pp. A199 dans Annual Meeting United States and Canadian Academy of Pathology, Laboratory Investigation. Peer-reviewed.
[WoS][serval:BIB_91E7A1507C34]
 
The painful hip: evaluation of criteria for clinical decision-making.
Eich G.F., Superti-Furga A., Umbricht F.S., Willi U.V., 1999. European Journal of Pediatrics, 158 (11) pp. 923-928.
[Pmid][serval:BIB_258BEACC0382]
1998
 
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.
Cormier-Daire V., Superti-Furga A., Munnich A., Lyonnet S., Rustin P., Delezoide A.L., De Lonlay P., Giedion A., Maroteaux P., Le Merrer M., 1998. American Journal of Medical Genetics, 78 (2) pp. 146-149.
[WoS][Pmid][serval:BIB_330C8DC88E34]
 
Diagnosis and management of glutaric aciduria type I.
Barić I., Zschocke J., Christensen E., Duran M., Goodman S.I., Leonard J.V., Müller E., Morton D.H., Superti-Furga A., Hoffmann G.F., 1998. Journal of Inherited Metabolic Disease, 21 (4) pp. 326-340.
[WoS][Pmid][serval:BIB_CF60DC6DF05C]
 
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.
Mornet E., Taillandier A., Peyramaure S., Kaper F., Muller F., Brenner R., Bussière P., Freisinger P., Godard J., Le Merrer M. et al., 1998. European Journal of Human Genetics, 6 (4) pp. 308-314.
[DOI][Pmid][serval:BIB_593FD3E90FD2]
 
International nomenclature and classification of the osteochondrodysplasias (1997). International Working Group on Constitutional Diseases of Bone.
Rimoin DL, Francomano CA, Giedion A, Hall C, Kaitila I, Cohn D, Gorlin R, Hall J, Horton W, Krakow D et al., 1998. American Journal of Medical Genetics, 79 (5) pp. 376-382.
[WoS][Pmid][serval:BIB_B0DE533D97E2]
 
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.
Shears D.J., Vassal H.J., Goodman F.R., Palmer R.W., Reardon W., Superti-Furga A., Scambler P.J., Winter R.M., 1998. Nature Genetics, 19 (1) pp. 70-73.
[DOI][WoS][Pmid][serval:BIB_141214B52544]
 
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.
Faiyaz ul Haque M., King L.M., Krakow D., Cantor R.M., Rusiniak M.E., Swank R.T., Superti-Furga A., Haque S., Abbas H., Ahmad W. et al., 1998. Nature Genetics, 20 (2) pp. 157-162.
[DOI][Pmid][serval:BIB_6B9C4F1D4B40]
 
Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1.
Bejjani B.A., Oberg K.C., Wilkins I., Moise A., Langston C., Superti-Furga A., Lupski J.R., 1998. American Journal of Medical Genetics, 79 (5) pp. 392-395.
[WoS][Pmid][serval:BIB_E18437A5770D]
 
Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production.
Rossi A., Kaitila I., Wilcox W.R., Rimoin D.L., Steinmann B., Cetta G., Superti-Furga A., 1998. Matrix Biology, 17 (5) pp. 361-369.
[Pmid][serval:BIB_B4FB8B17F598]
 
Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".
Superti-Furga A., Tenconi R., Clementi M., Eich G., Steinmann B., Boltshauser E., Giedion A., 1998. American Journal of Medical Genetics, 78 (2) pp. 150-154.
[Pmid][serval:BIB_34A909713A97]
 
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
Schwartz M., Christensen E., Superti-Furga A., Brandt N.J., 1998. Human Genetics, 102 (4) pp. 452-458.
[WoS][Pmid][serval:BIB_882117A71BB4]
1997
 
46jährige Patientin mit Blutungsneigung und Nierenarterienaneurysmata.Ehlers-Danlos-Syndrome Typ IV [46-year-old patient with hemorrhagic diathesis and renal artery aneurysms. Type IV Ehlers-Danlos syndrome].
Laubach E., Ritter M.M., Giunta C., Geiss H.C., Hiller E., Superti-Furga A., Schwandt P., Steinmann B., 1997. Der Internist, 38 (12) pp. 1225-1230.
[WoS][Pmid][serval:BIB_E4BB1CFC375B]
 
Atelosteogenesis type I: Lack of evidence for a sulfate transport disorder.
Hastrup W., DeLozier-Blanchet C.D., Scharnhorst D., Superti-Furga A., Curry C.J., 1997. pp. A100 dans 47th Annual Meeting of the American Society of Human Genetics, American Journal of Human Genetics. Peer-reviewed.
[WoS][serval:BIB_571B1BA029C7]
 
Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR.
Kleinle S., Wiesmann U., Superti-Furga A., Krähenbühl S., Boltshauser E., Reichen J., Liechti-Gallati S., 1997. Human Genetics, 100 (5-6) pp. 643-650.
[WoS][Pmid][serval:BIB_1DF47A0C0216]
 
Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting.
Superti-Furga A., Hoffmann G.F., 1997. European Journal of Pediatrics, 156 (11) pp. 821-828.
[WoS][Pmid][serval:BIB_097472429B26]
 
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia.
Giedion A., Boltshauser E., Briner J., Eich G., Exner G., Fendel H., Kaufmann L., Steinmann B., Spranger J., Superti-Furga A., 1997. European Journal of Pediatrics, 156 (3) pp. 214-223.
[Pmid][serval:BIB_E5666683D688]
 
The effect of the N-methyl-D-aspartate receptor antagonist dextromethorphan on perioperative brain injury in children undergoing cardiac surgery with cardiopulmonary bypass: results of a pilot study.
Schmitt B., Bauersfeld U., Fanconi S., Wohlrab G., Huisman T.A., Bandtlow C., Baumann P., Superti-Furga A., Martin E., Arbenz U. et al., 1997. Neuropediatrics, 28 (4) pp. 191-7. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_08FB2941EF1C]
 
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.
Rossi A., Bonaventure J., Delezoide A.L., Superti-Furga A., Cetta G., 1997. European Journal of Biochemistry / Febs, 248 (3) pp. 741-747.
[Pmid][serval:BIB_0F9A2F449591]
1996
 
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
Superti-Furga A., Rossi A., Steinmann B., Gitzelmann R., 1996. American Journal of Medical Genetics, 63 (1) pp. 144-147.
[DOI][WoS][Pmid][serval:BIB_FEE1A80F7CA9]
 
A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans
Superti-Furga A., Hastbacka J., Rossi A., VanderHarten J.J., Wilcox W.R., Cohn D.H., Rimoin D.L., Steinmann B., Lander E.S., Gitzelmann R., 1996. pp. 195-201 dans de Crombrugghe B., Horton W.A., Olsen B.R., Ramirez F. (eds.) Conference entitled Molecular and Developmental Biology of Cartilage, Annals of the New York Academy of Sciences.
[WoS][serval:BIB_00ACCA977B21]
 
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.
Zabel B., Hilbert K., Stöss H., Superti-Furga A., Spranger J., Winterpacht A., 1996. American Journal of Medical Genetics, 63 (1) pp. 123-128.
[DOI][WoS][Pmid][serval:BIB_1CF40EB8ADC1]
 
Achondrogenesis type 1B.
Superti-Furga A., 1996. Journal of Medical Genetics, 33 (11) pp. 957-961.
[Pmid][serval:BIB_6975B0D7AB04]
 
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
Superti-Furga A., Hästbacka J., Wilcox W.R., Cohn D.H., van der Harten H.J., Rossi A., Blau N., Rimoin D.L., Steinmann B., Lander E.S. et al., 1996. Nature Genetics, 12 (1) pp. 100-102.
[DOI][WoS][Pmid][serval:BIB_2E0C4F78B3BB]
 
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
Hästbacka J., Superti-Furga A., Wilcox W.R., Rimoin D.L., Cohn D.H., Lander E.S., 1996. American Journal of Human Genetics, 58 (2) pp. 255-262.
[WoS][Pmid][serval:BIB_3901B9C2A5E1]
 
Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasia.
Berthet F., Siegrist C.A., Ozsahin H., Tuchschmid P., Eich G., Superti-Furga A., Seger R.A., 1996. European Journal of Pediatrics, 155 (4) pp. 286-290.
[WoS][Pmid][serval:BIB_072BA51A2FE0]
 
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.
Hoffmann G.F., Athanassopoulos S., Burlina A.B., Duran M., de Klerk J.B., Lehnert W., Leonard J.V., Monavari A.A., Müller E., Muntau A.C. et al., 1996. Neuropediatrics, 27 (3) pp. 115-123.
[DOI][Pmid][serval:BIB_0E62C9661B3C]
 
Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation.
Mackay K., Raghunath M., Superti-Furga A., Steinmann B., Dalgleish R., 1996. Clinical Genetics, 49 (6) pp. 286-295.
[WoS][Pmid][serval:BIB_915215843AC8]
 
Gaucher disease: four families with previously undescribed mutations.
Beutler E., Gelbart T., Balicki D., Demina A., Adusumalli J., Elsas L., Grinzaid K.A., Gitzelmann R., Superti-Furga A., Kattamis C. et al., 1996. Proceedings of the Association of American Physicians, 108 (3) pp. 179-184.
[WoS][Pmid][serval:BIB_17DE48F514EA]
 
Microcephaly and maternal phenylketonuria.
Superti-Furga A., Steinmann B., Duc G., Gitzelmann R., 1996. European Journal of Pediatrics, 155 (11) p. 992.
[DOI][WoS][Pmid][serval:BIB_05B54E949AAE]
 
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.
Gong Y., Vikkula M., Boon L., Liu J., Beighton P., Ramesar R., Peltonen L., Somer H., Hirose T., Dallapiccola B. et al., 1996. American Journal of Human Genetics, 59 (1) pp. 146-151.
[WoS][Pmid][serval:BIB_077A0D50054F]
 
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.
Rossi A., van der Harten H.J., Beemer F.A., Kleijer W.J., Gitzelmann R., Steinmann B., Superti-Furga A., 1996. Human Genetics, 98 (6) pp. 657-661.
[WoS][Pmid][serval:BIB_DE2864648475]
 
Prevention of disease in glutaryl-CoA dehydrogenase deficiency (GDD)
Hoffmann G., Burlina A., Duran M., De Klerk J.B.C., Leonard J.V., Muntau A., Naughten E.R., Plecko Starting F.K., Superti-Furga A., Christensen E., 1996. p. 859 dans 106th Annual Meeting of the American Pediatric Society and 65th Annual Meeting of the Society for Pediatric Research, Pediatric Research. Peer-reviewed.
[WoS][serval:BIB_32E70FA07EEB]
 
Sulfate transport in chondrodysplasia
Hastbacka J., Superti-Furga A., Wilcox W.R., Rimoin D.L., Cohn D.H., Lander E.S., 1996. pp. 131-136 dans de Crombrugghe B., Horton W.A., Olsen B.R., Ramirez F. (eds.) Conference entitled Molecular and Developmental Biology of Cartilage, Annals of the New York Academy of Sciences.
[WoS][serval:BIB_78CFE6C451D7]
 
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.
Winterpacht A., Superti-Furga A., Schwarze U., Stöss H., Steinmann B., Spranger J., Zabel B., 1996. Journal of Medical Genetics, 33 (8) pp. 649-654.
[WoS][Pmid][serval:BIB_1737CD25F40A]
 
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.
Rossi A., Bonaventure J., Delezoide A.L., Cetta G., Superti-Furga A., 1996. Journal of Biological Chemistry, 271 (31) pp. 18456-18464.
[WoS][Pmid][serval:BIB_DCFD45F9AACE]
1995
 
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
Superti-Furga A., Eich G., Bucher H.U., Wisser J., Giedion A., Gitzelmann R., Steinmann B., 1995. European Journal of Pediatrics, 154 (3) pp. 215-219.
[Pmid][serval:BIB_2B97F304D22F]
 
Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome.
Godfrey M., Raghunath M., Cisler J., Bevins C.L., DePaepe A., Di Rocco M., Gregoritch J., Imaizumi K., Kaplan P., Kuroki Y. et al., 1995. American Journal of Pathology, 146 (6) pp. 1414-1421.
[WoS][Pmid][serval:BIB_936B9898579F]
 
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate transporter gene (DTDST).
Hastbacka J., Wilcox W.R., Superti-Furga A., Rimoin D.L., Cohn D.H., Lander E.S., 1995. pp. A48 dans 45th Annual Meeting of the American Society of Human Genetics, American Journal of Human Genetics. Peer-reviewed.
[WoS][serval:BIB_18B41E58DF72]
 
Defective sulfation of proteoglycans in achondrogenesis type IB is caused by mutations in the DTDST gene - the disorder is allelic to diastrophic dysplasia
Superti-Furga A., Hastbacka J., Cohn D.H., Wilcox W., Van der Harten H.J., Rimoin D.L., Lander S., Steinmann B., Gitzelmann R., 1995. pp. A48 dans 45th Annual Meeting of the American Society of Human Genetics, American Journal of Human Genetics. Peer-reviewed.
[WoS][serval:BIB_B6D690538634]
 
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency.
Hoffmann G.F., Böhles H.J., Burlina A., Duran M., Herwig J., Lehnert W., Leonard J.V., Muntau A., Plecko-Starting F.K., Superti-Furga A. et al., 1995. Journal of Inherited Metabolic Disease, 18 (2) pp. 173-176.
[WoS][Pmid][serval:BIB_CCF8C5C656DF]
 
Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.
Kotzot D., Bernasconi F., Brecevic L., Robinson W.P., Kiss P., Kosztolanyi G., Lurie I.W., Superti-Furga A., Schinzel A., 1995. European Journal of Pediatrics, 154 (6) pp. 477-482.
[WoS][Pmid][serval:BIB_2112D5C24F8B]
1994
 
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB.
Superti-Furga A., 1994. American Journal of Human Genetics, 55 (6) pp. 1137-1145.
[WoS][Pmid][serval:BIB_46FC9856A34B]
 
Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency.
Gitzelmann R., Bosshard N.U., Superti-Furga A., Spycher M.A., Briner J., Wiesmann U., Lutz H., Litschi B., 1994. Veterinary Pathology, 31 (4) pp. 435-443.
[WoS][Pmid][serval:BIB_F595B684B511]
 
Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsies.
Raghunath M., Steinmann B., Delozier-Blanchet C., Extermann P., Superti-Furga A., 1994. Pediatric Research, 36 (4) pp. 441-448.
[WoS][Pmid][serval:BIB_D5340602F78E]
 
Somatosensory evoked potentials with high cortical amplitudes: clinical data in 31 children.
Schmitt B., Thun-Hohenstein L., Molinari L., Superti-Furga A., Boltshauser E., 1994. Neuropediatrics, 25 (2) pp. 78-84.
[DOI][WoS][Pmid][serval:BIB_B0A27D52AC74]
1993
 
An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta.
Superti-Furga A., Raghunath M., Pistone F.M., Romano C., Steinmann B., 1993. Connective Tissue Research, 29 (1) pp. 31-40.
[WoS][Pmid][serval:BIB_47B839ED385B]
Partagez:
Unicentre - CH-1015 Lausanne
Suisse
Tél. +41 21 692 11 11
Canton de Vaud
Swiss University