Genetic Medicine

Publications | Phd and Masters theses

Advanced search is available through Serval

Publications can be managed by accessing Serval via MyUnil


895 publications

... | 2000 | 1999 | 1998 | 1997 | 1996 | 1995 | 1994 | 1993 | 1984 | 1981 | 1980 | 1979 | 1977 | 1976 | 1975 | 1974 | 1972 | 1971 | 1970 |
2000
 
The gene MAPK8IP1, encoding islet-brain-1, is a candidate for type 2 diabetes.
Waeber G., Delplanque J., Bonny C., Mooser V., Steinmann M., Widmann C., Maillard A., Miklossy J., Dina C., Hani E.H. et al., 2000. Nature genetics, 24 (3) pp. 291-5. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_82C758FFFC94]
 
Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: an epithelial origin?
Ridgway A.E., Akhtar S., Munier F.L., Schorderet D.F., Stewart H., Perveen R., Bonshek R.E., Odenthal M.T., Dixon M., Barraquer R. et al., 2000. Investigative ophthalmology & visual science, 41 (11) pp. 3286-92. Peer-reviewed.
[WoS][Pmid][serval:BIB_45096E9C88FD]
1999
 
A novel BCR-ABL transcript e2a2 in a chronic myelogenous leukaemia patient with a duplicated Ph-chromosome and monosomy 7
Leibundgut E. O., Jotterand M., Rigamonti V., Parlier V., Muhlematter D., Tobler A., Solenthaler M., 1999/09. British Journal of Haematology, 106 (4) pp. 1041-4.
[DOI][WoS][Pmid][serval:BIB_6CC147268A3C]
 
Dicentric translocation (9;12) presenting as refractory Philadelphia chromosome-positive acute B-cell lymphoblastic leukemia
Bargetzi M. J., Muhlematter D., Tichelli A., Jotterand M., Wernli M., 1999/08. Cancer Genetics and Cytogenetics, 113 (1) pp. 90-2.
[DOI][WoS][Pmid][serval:BIB_477A70DB3AF5]
 
Effect of conditioned medium, nutritive elements and mitotic synchronization on the accuracy of the cytogenetic analysis in patients with chronic myeloid leukemia at diagnosis and during alpha-interferon therapy
Castagne C., Muhlematter D., Martinet D., Jotterand M., 1999/03. Cancer Genetics and Cytogenetics, 109 (2) pp. 166-71.
[DOI][WoS][Pmid][serval:BIB_9939B9F44C8B]
 
A role for the endocrine and pro-inflammatory mediator MIF in the control of insulin secretion during stress.
Waeber G., Calandra T., Bonny C., Bucala R., 1999. Diabetes/metabolism research and reviews, 15 (1) pp. 47-54. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7652F28FE6C7]
 
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
Stone EM, Lotery AJ, Munier FL, Héon E, Piguet B, Guymer RH, Vandeburgh K, Cousin P, Nishimura D, Swiderski RE et al., 1999. Nature Genet, 22 pp. 199-202.
[serval:BIB_13031]
 
Cellular xenotransplantation.
Aebischer P., Hottinger A.F., Déglon N., 1999. Nature Medicine, 5 (8) p. 852.
[DOI][WoS][Pmid][serval:BIB_7F89061E0DC5]
 
Cloning and expression of rat pancreatic beta-cell malonyl-CoA decarboxylase.
Voilley N., Roduit R., Vicaretti R., Bonny C., Waeber G., Dyck J.R., Lopaschuk G.D., Prentki M., 1999. Biochemical journal, 340 (1) pp. 213-217. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2D74DBB3F265]
 
Congenital diaphragmatic hernia : a European population-based study of epidemiology, prenatal diagnosis and mortality
Garne E., Quataert P., de Vigan C., Mendizabal H., Igoe D., Addor M.C., Moro-Bayon C., Garcia-Minaur S., 1999. Prenatal and Neonatal Medicine, 4 (6) pp. 441-447. Peer-reviewed.
[WoS][serval:BIB_581BF62044E1]
 
Evaluation de l'enfant avec retard mental.
Zankl A, Schorderet DF, 1999. Pediatrica, 10 pp. 30-39.
[serval:BIB_13035]
 
Genomic organization, fine-mapping, and expression of the human islet-brain 1 (IB1)/c-Jun-amino-terminal kinase interacting protein-1 (JIP-1) gene.
Mooser V., Maillard A., Bonny C., Steinmann M., Shaw P., Yarnall D.P., Burns D.K., Schorderet D.F., Nicod P., Waeber G., 1999. Genomics, 55 (2) pp. 202-8. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_36FC7B9B00A2]
 
La Société Suisse de Génétique Médicale.
Schorderet DF, 1999. Medizinische Genetik, 11 pp. 90-95.
[serval:BIB_13040]
 
Les maladies à triplets: un nouveau concept mutationnel.
Schorderet DF, 1999. Revue Médicale Suisse, 119 pp. 103-106.
[serval:BIB_13039]
 
Medical-ethical guidelines for somatic-based human gene therapy.
Hitzig WH, Weibel ER, Lindenmann J, Cruchaud A, Guillod O, Halter H, Jauch UP, Kind C, Lind-Keel G, Rehmann-Sutter C et al., 1999. Schweizerische Medizinische Wochenschrift, 129 pp. 1717-1721.
[serval:BIB_13033]
 
On the role of kerato-epithelin in the pathogenesis of 5q31-linked corneal dystrophies.
Korvatska E., Munier F.L., Chaubert P., Wang M.X., Mashima Y., Yamada M., Uffer S., Zografos L., Schorderet D.F., 1999. Investigative ophthalmology & visual science, 40 (10) pp. 2213-9. Peer-reviewed.
[WoS][Pmid][serval:BIB_AA42ABFEC4D0]
 
Progrès récents en génétique médicale: l'apport d'Internet et des bases de données en ligne.
Schorderet DF, 1999. Pediatrica, 10 pp. 10-23.
[serval:BIB_13036]
 
Stérilité masculine: les hommes présentant une azoospermie peuvent espérer concevoir par fécondation assistée précédée d'un prélèvement déférentiel, épididymaire ou testiculaire de spermatozoides: résultats du CHUV de 1994 à 1997.
Wisard M, Senn A, Thonney F, Schorderet DF, Germond M, 1999. Schweizerische Medizinische Wochenschrift, 129 pp. 425-432.
[serval:BIB_13038]
 
The gamma-crystallins and human cataracts: a puzzle made clearer.
Héon E., Priston M., Schorderet D.F., Billingsley G.D., Girard P.O., Lubsen N., Munier F.L., 1999. American journal of human genetics, 65 (5) pp. 1261-7. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_13034]
 
The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Nature Genetics 22:305-308,1999.
Fleming JC, Tartaglini E, Steinkamp MP, Schorderet DF, Cohen N, Neufeld EJ, 1999. Nature Genet, 22 pp. 305-308.
[serval:BIB_13032]
1998
 
Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene
Klintworth G. K., Sommer J. R., Obrian G., Han L., Ahmed M. N., Qumsiyeh M. B., Lin P. Y., Basti S., Reddy M. K., Kanai A. et al., 1998/12. Molecular Vision, 4 p. 31.
[Pmid][serval:BIB_BFC5FAB33833]
 
Sampling bias and logistical problems of molecular analyses in a clinical leukaemia trial. Swiss Group for Clinical Cancer Research (SAKK)
Fey M. F., Blaser M., Wernli M., Jotterand M., Maibach R., Gratwohl A., Tobler A., 1998/11. British Journal of Haematology, 103 (2) pp. 585-7.
[DOI][WoS][Pmid][serval:BIB_04240CCC7A4E]
 
Depistage mutationnel des genes de la peripherine/RDS, rhodopsine et ROM-1 dans 69 cas index de retinite pigmentaire et autres dystrophies retiniennes [Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies]
Millá E., Héon E., Piguet B., Ducrey N., Butler N., Stone E., Schorderet D.F., Munier F., 1998. Klinische Monatsblätter für Augenheilkunde, 212 (5) pp. 305-8. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E1F474859187]
 
Etude clinique et analyse de liaison au locus 3q28 de deux familles suisses avec atrophie optique dominante de Kjer (OPA1) [Clinical study and genetic 3q28 locus linkage in 2 Swiss families with Kjer dominant optic atrophy (OPA1)]
Lefèvre A., Hiroz C., Zografos L., Schorderet D.F., Munier F.L., 1998. Klinische Monatsblätter für Augenheilkunde, 212 (5) pp. 301-4. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_CAFB6D6B86CC]
 
Evidence of somatic and germinal mosaicism in pseudo-low-penetrant hereditary retinoblastoma, by constitutional and single-sperm mutation analysis.
Munier F.L., Thonney F., Girardet A., Balmer A., Claustre M., Pellestor F., Senn A., Pescia G., Schorderet D.F., 1998. American journal of human genetics, 63 (6) pp. 1903-8. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9013]
 
Gene localization for aculeiform cataract, on chromosome 2q33-35.
Héon E., Liu S., Billingsley G., Bernasconi O., Tsilfidis C., Schorderet D.F., Munier F.L., Tsifildis C., 1998. American journal of human genetics, 63 (3) pp. 921-6. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9011]
 
Génie génétique et médecine.
Schorderet DF, 1998. Bulletin de la Société Suisse de Génétique Médicale, 40 p. 6.
[serval:BIB_9018]
 
IB1, a JIP-1-related nuclear protein present in insulin-secreting cells.
Bonny C., Nicod P., Waeber G., 1998. Journal of Biological Chemistry, 273 (4) pp. 1843-1846. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5A1B2993C651]
 
Maternal smoking and deformities of the foot: results of the EUROCAT Study. European Registries of Congenital Anomalies.
Reefhuis J., de Walle H.E., Cornel M.C., EUROCAT Working group, 1998. American Journal of Public Health, 88 (10) pp. 1554-1555. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9F6283893D62]
 
Methylation status of CpG sites and methyl-CpG binding proteins are involved in the promoter regulation of the mouse Xist gene
Allaman-Pillet N., Djemai A., Bonny C., Schorderet D. F., 1998. Gene Expression, 7 (2) pp. 61-73.
[WoS][Pmid][serval:BIB_1CC62BB2F4E5]
 
Mutation hot spots in 5q31-linked corneal dystrophies.
Korvatska E., Munier F.L., Djemaï A., Wang M.X., Frueh B., Chiou A.G., Uffer S., Ballestrazzi E., Braunstein R.E., Forster R.K. et al., 1998. American journal of human genetics, 62 (2) pp. 320-4. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9006]
 
Rhodopsin C110Y mutation causes a tyxpe 2 autosomal dominant retinitis pigmentosa.
Milla E, Héon E, Grounauer PA, Piguet B, Ducrey N, Stone EM, Schorderet DF, Munier FL, 1998. Ophthalmol. Genet., 19 pp. 131-139.
[serval:BIB_9010]
 
Stérilité masculine : mise à jour de la ligne de conduite diagnostique et thérapeutique
Germond M., Senn A., Chanson A., Wisard M., Schorderet D.F., Pescia G., De Grandi P., 1998. Médecine et Hygiène, 58 (2205) pp. 816-821.
[serval:BIB_3880]
1997
 
Detection of 16 p deletions by FISH in patients with inv(16) or t(16;16) and acute myeloid leukemia (AML)
Martinet D., Muhlematter D., Leeman M., Parlier V., Hess U., Gmur J., Jotterand M., 1997/07. Leukemia, 11 (7) pp. 964-70.
[DOI][WoS][Pmid][serval:BIB_A241FF378D2E]
 
Effect of conditioned media, nutritive elements, and mitotic synchronization on the accuracy of the cytogenetic analysis in acute nonlymphocytic leukemia patients presenting with inv(16)/t(16;16) or t(15;17).
Castagné C., Mühlematter D., van Melle G., Gachoud V., Jotterand Bellomo M., 1997/04. Cancer genetics and cytogenetics, 94 (2) pp. 106-112. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2720]
 
A new case of Pfeiffer syndrome with mutation in FGFR2.
Addor M.C., Gudinchet F., Laurini R.N., Pescia G., Schorderet D.F., 1997. Genetic Counseling, 8 (4) pp. 303-309. Peer-reviewed.
[WoS][Pmid][serval:BIB_E4CAEA414AFB]
 
A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype.
Hergersberg M, Balakrishnan J, Bettecken T, Chevalier-Porst F, Bragger C, Burger R, Einschenk I, Liechti-Gallati S, Morris M, Schorderet D et al., 1997. Human Genetics, 100 pp. 220-223.
[serval:BIB_2711]
 
cAMP prevents the glucose-mediated stimulation of GLUT2 gene transcription in hepatocytes.
Rencurel F., Waeber G., Bonny C., Antoine B., Maulard P., Girard J., Leturque A., 1997. Biochemical journal, 322 (2) pp. 441-448. Peer-reviewed.
[WoS][Pmid][serval:BIB_2BC8CFB011CE]
 
Cloning and characterization of Helicobacter pylori succinyl CoA:acetoacetate CoA-transferase, a novel prokaryotic member of the CoA-transferase family.
Corthésy-Theulaz I.E., Bergonzelli G.E., Henry H., Bachmann D., Schorderet D.F., Blum A.L., Ornston L.N., 1997. The Journal of biological chemistry, 272 (41) pp. 25659-67. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_8EC557E41183]
 
Des colonoscopies à répétition ou une seule analyse génétique ? Exemple de la polypose adénomateuse familiale.
Schorderet DF, 1997. Le Fait Médical, 34 pp. 9-10.
[serval:BIB_2702]
 
Diagnostic prénatal de maladies rares: l'apport d'Internet et des bases de données en ligne.
Schorderet D.F., 1997. pp. 279-283 dans Diagnostics prénatals et Biologie moléculaire, Tec & Doc Lavoisier.
[serval:BIB_2713]
 
Diagnostics prénatals et biologie moléculaire
Forestier F, Schorderet DF, 1997., Tec & Doc Lavoisier.
[serval:BIB_2712]
 
Dystrophie myotonique de Steinert.
Schorderet D.F., Kuntzer T., 1997. pp. 149-164 dans Diagnostics prénatals et Biologie moléculaire, Tec & Doc Lavoisier.
[serval:BIB_2714]
 
Fatty acids decrease IDX-1 expression in rat pancreatic islets and reduce GLUT2, glucokinase, insulin, and somatostatin levels.
Gremlich S., Bonny C., Waeber G., Thorens B., 1997. Journal of Biological Chemistry, 272 (48) pp. 30261-30269. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_08FF223B26D1]
 
Frequency and impact of autosomal dominant polycystic kidney disease in the Seychelles (Indian Ocean).
Yersin C., Bovet P., Wauters J.P., Schorderet D.F., Pescia G., Paccaud F., 1997. Nephrology, dialysis, transplantation, 12 (10) pp. 2069-74. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_644D5D8CD0D0]
 
Génétique moléculaire sur sang foetal
Schorderet D.F., 1997. Médecine et Hygiène, 55 (2162) pp. 936-937.
[serval:BIB_2703]
 
Identification of novel PAX6 mutations in two families with bilateral aniridia.
Neuner-Jehle M, Munier F, Kobetz A, Sahly I, Uteza Y, Mermoud A, Schorderet DF, Dufier JL, Abitbol M, 1997. Human Mutation, on-line p. 167.
[serval:BIB_2710]
 
Insulin secretion is regulated by the glucose-dependent production of islet beta cell macrophage migration inhibitory factor.
Waeber G., Calandra T., Roduit R., Haefliger J.A., Bonny C., Thompson N., Thorens B., Temler E., Meinhardt A., Bacher M. et al., 1997. Proceedings of the National Academy of Sciences of the United States of America, 94 (9) pp. 4782-4787. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_00FEA018BE42]
 
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies.
Munier FL, Korvatska E, Djemai A, Le Paslier D, Zografos L, Pescia G, Schorderet DF, 1997. Nature Genet, 15 pp. 247-251.
[serval:BIB_2708]
 
Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene.
Schorderet DF, Huber M, Laurini RN, von Moos G, Gianadda B, Délèze G, Hohl D, 1997. Prenat. Diag., 17 pp. 483-486.
[serval:BIB_2704]
 
Prognostic factors associated with loss of heterozygosity at the RB1 locus in retinoblastome.
Munier FL, Thonney F, Balmer A, Uffer S, Héon E, van Melle G, Rutz HP, Pescia G, Schorderet DF, 1997. Ophthalmic Genetics, 18 pp. 7-12.
[serval:BIB_2705]
 
The loss of GLUT2 expression in the pancreatic beta-cells of diabetic db/db mice is associated with an impaired DNA-binding activity of islet-specific trans-acting factors.
Bonny C., Roduit R., Gremlich S., Nicod P., Thorens B., Waeber G., 1997. Molecular and Cellular Endocrinology, 135 (1) pp. 59-65. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5F54DCA36FB6]
1996
 
Diagnostic and prognostic significance of cytogenetics in adult primary myelodysplastic syndromes
Jotterand M., Parlier V., 1996/10. Leukemia and Lymphoma, 23 (3-4) pp. 253-66.
[DOI][WoS][Pmid][serval:BIB_ECBAB3F67FB9]
 
Application de la technique d'hybridation in situ fluorescente (FISH) au diagnostic de la translocation de Philadelphie dans la leucémie myéloïde chronique [Fluorescent in-situ hybridization technique (FISH) in the diagnosis of Philadelphia translocation in chronic myeloid leukemia]
Martinet D., Mühlematter D., Jotterand Bellomo M., 1996. Schweizerische Medizinische Wochenschrift = Journal Suisse de Médecine, 126 (20) pp. 855-863.
[WoS][Pmid][serval:BIB_6211]
 
Défauts de fermeture du tube neural
Addor M.C., Pescia G., 1996. pp. 65-66 dans Institut de médecine sociale et préventive, Service cantonal de recherche et d'information statistiques (eds.) La santé des Vaudois en 1996 : deuxième rapport pour la Commission de prévention en matière de santé publique, Institut universitaire de médecine sociale et préventive : Service cantonal de recherche et d'information statistiques.
[serval:BIB_22C77AC4A1AE]
 
Dépistage de la trisomie 21
Pescia G., Addor M.C., 1996. pp. 62-65 dans Institut de médecine sociale et préventive, Service cantonal de recherche et d'information statistiques (eds.) La santé des Vaudois en 1996 : deuxième rapport pour la Commission de prévention en matière de santé publique, Institut universitaire de médecine sociale et préventive : Service cantonal de recherche et d'information statistiques.
[serval:BIB_284CFAD693D4]
 
Frequent clonal loss of heterozygosity, but scarcity of microsatellite instability at chromosomal breakpoint cluster regions in adult leukemias.
Pabst T, Schwaller J, Jotterand Bellomo M, Oestreicher M, Mühlematter D, Tichelli A, Tobler A, Fey MF, 1996. Blood, 88 pp. 1026-1034.
[serval:BIB_6215]
 
Full characterization of a large family affected with "Zermatt Macular Dystrophy" and an Arg-172-Trp mutation in the RDS/peripherin Gene.
Piguet B, Héon E, Munier FL, Grounauer PA, Niemeyer G, Butler N, Schorderet DF, Sheffield VC, Stone EW, 1996. Ophthalmic Genet., 17 pp. 175-186.
[serval:BIB_6222]
 
Hyperekplexie familiale: la maladie du sursaut. Etude clinique, electrophysiologique et genetique d'une famille.
Bernasconi A, Regli F, Schorderet DF, Pescia G, 1996. Revue Neurologique, 152 pp. 447-450.
[serval:BIB_6219]
 
Krebscytogenetik.
Jotterand Bellomo M, Mühlematter D, 1996. Therapie Woche, 12 pp. 29-34.
[serval:BIB_6226]
 
Le cancer colorectal héréditaire non polyposique: aspects génétiques et perspectives de dépistage moléculaire.
Hutter P, Schorderet DF, 1996. Schweizerische Rundschau fuer Medizin Praxis, 85 pp. 1046-1051.
[serval:BIB_6220]
 
Le conseil génétique en oncologie.
Pescia G, Schorderet DF, 1996. Schweizerische Rundschau fuer Medizin Praxis, 85 pp. 1027-1031.
[serval:BIB_6218]
 
Le rétinoblastome: aspects cliniques et diagnostic moléculaire.
Thonney F, Munier FL, Balmer A, Pescia G, Schorderet DF, 1996. Schweizerische Rundschau fuer Medizin Praxis, 85 pp. 1058-1062.
[serval:BIB_6227]
 
Les cancers héréditaires (Editorial).
Schorderet DF, 1996. Schweizerische Rundschau fuer Medizin Praxis, 85 pp. 1017-1018.
[serval:BIB_6223]
 
Linkage of autosomal dominant radial drusen (Malattia Leventinese) to chromosome 2p16-21.
Héon E, Piguet B, Munier F, Sneed SR, Morgan CM, Forni S, Pescia G, Schorderet DF, Taylor CM, Streb LM et al., 1996. Arch. Ophthalmol., 114 pp. 193-198.
[serval:BIB_6209]
 
Nouvelles perspectives des thérapies géniques en Neurologie
Schorderet D.F., 1996. Médecine et Hygiène, 54 (2117) pp. 1000-1002.
[serval:BIB_6224]
 
Oncogènes et antioncogènes: la génétique des cancers.
Schorderet DF, Munier FL, 1996. Schweizerische Rundschau fuer Medizin Praxis, 85 pp. 1019-1022.
[serval:BIB_6225]
 
Signification diagnostique et pronostique de l'analyse cytogénétique dans les leucémies aiguës et les syndromes myélodysplasiques. [Significance, diagnosis and prognosis in the cytogenetic analysis in acute leukemias and myelodysplastic syndromes].
Jotterand Bellomo M., 1996. Therapeutische Umschau. Revue Thérapeutique, 53 (2) pp. 103-110.
[Pmid][serval:BIB_6221]
 
Transcriptional activation of the GLUT2 gene by the IPF-1/STF-1/IDX-1 homeobox factor.
Waeber G., Thompson N., Nicod P., Bonny C., 1996. Molecular Endocrinology, 10 (11) pp. 1327-1334. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7FAA2FCF04F6]
1995
 
Characterization of the promoter region of the mouse Xist gene
Pillet N., Bonny C., Schorderet D. F., 1995/12. Proceedings of the National Academy of Sciences of the United States of America, 92 (26) pp. 12515-9.
[DOI][WoS][Pmid][serval:BIB_CA4F85E2C9FF]
 
Pancreatic-specific expression of the glucose transporter type 2 gene: identification of cis-elements and islet-specific trans-acting factors.
Bonny C., Thompson N., Nicod P., Waeber G., 1995/10. Molecular endocrinology, 9 (10) pp. 1413-1426. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5C41DBF3C99B]
 
"C" trigonocephaly syndrome with diaphragmnatic hernia.
Addor M.C., Stefanutti D., Farron F., Meinecke P., Lacombe D., Sarlangue J., Prescia G., Schorderet D.F., 1995. Genetic Counseling, 6 (2) pp. 113-120. Peer-reviewed.
[WoS][Pmid][serval:BIB_252AE22F6A92]
 
A 338-bp proximal fragment of the glucose transporter type 2 (GLUT2) promoter drives reporter gene expression in the pancreatic islets of transgenic mice.
Waeber G., Pedrazzini T., Bonny O., Bonny C., Steinmann M., Nicod P., Haefliger J.A., 1995. Molecular and cellular endocrinology, 114 (1-2) pp. 205-15. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_66E3B8E48F14]
1994
 
An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene.
Schorderet D.F., Pescia G., Bernasconi A., Regli F., 1994/07. Human molecular genetics, 3 (7) p. 1201. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_6CF8178585D4]
 
Aspects génétiques de l'hydrops foetal et de l'hygrome kystique [Genetic aspects of fetal hydrops and cystic hygroma]
Fokstuen S., Pescia G., Addor M.C., 1994. Revue Médicale de la Suisse Romande, 114 (12) pp. 1051-1054.
[Pmid][serval:BIB_E09634D704D2]
1993
 
Alpha-foetoprotéine et aberrations chromosomiques: quoi de plus? Résultats d'une étude prospective portant sur 15 533 grossesses [Alpha-fetoprotein and chromosome aberrations: what else? Results of a prospective study concerning 15,533 pregnancies]
Marguerat P., Weihs D., Pescia G., Gaide A.C., Addor M.C., Nguyen The H., 1993. Revue Médicale de la Suisse Romande, 113 (4) pp. 273-276.
[Pmid][serval:BIB_8650BF5F5AA6]
 
Le registre vaudois des anomalies congénitales [The Vaud register of congenital abnormalities]
Addor M.C., Pescia G., Marguerat P., 1993. Revue Médicale de la Suisse Romande, 113 (4) pp. 265-271.
[Pmid][serval:BIB_AF2883C9D6B5]
1984
 
Etude familiale du reflux vésico-urétéral [Familial study of vesico-ureteral reflux]
Addor M.C., Pescia G., Guignard J.P., Genton N., 1984. Journal de Génétique Humaine, 32 (2) pp. 91-100.
[WoS][Pmid][serval:BIB_6C9A2C2AE7D3]
1981
 
Quand l'amniocentèse génétique est faussement sécurisante: à propos d'un cas de syndrome de Jeune [When genetic amniocentesis is misleading: apropos of a case of Jeune's syndrome]
Addor M.C., Pescia G., Burgener F., Marguerat P., 1981/04. Revue Médicale de la Suisse Romande, 101 (4) pp. 319-24.
[Pmid][serval:BIB_2655CD745A88]
1980
 
Attitude pratique face a l'hypertension arterielle de l'enfant. [Practical approach to arterial hypertension in children]
Guignard J. P., Dorner F., Jotterand M., Spahr A., Gautier E., 1980/03. Revue Médicale de la Suisse Romande, 100 (3) pp. 213-9.
[Pmid][serval:BIB_A79B0E793B52]
1979
 
Fausses-couches precoces iteratives et caryotype. Etude cytogenetique de 80 couples consecutifs. [Early repeated abortions and karyotypes. A cytogenic study of 80 consecutive couples (author's transl)]
Pescia G., Jotterand M., Gaide A. C., 1979/02. Journal de Gynécologie, Obstétrique et Biologie de la Reproduction, 8 (1) pp. 35-8.
[WoS][Pmid][serval:BIB_71D4945D48BC]
1977
 
Possible evidence of X-Y interchange in an XX male
Pescia G., Jotterand M., 1977/03. Lancet, 1 (8010) p. 550.
[WoS][Pmid][serval:BIB_B769BAA0E606]
1976
 
Association d'atteintes oculaires et otologiques dans une institution pour handicapes visuels et mentaux [Association of ocular and otological damage in an institution for the visually and mentally handicapped]
Cuendet J. F., Juillard E., Catti A., Verellen C., Dutoit M. L., Jotterand M., 1976/11. Journal de Genetique Humaine, 24 Suppl pp. 215-20.
[WoS][Pmid][serval:BIB_237B6F9DB7F0]
 
A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21)
Jotterand M., Juillard E., 1976/08. Human Genetics, 33 (3) pp. 213-22.
[DOI][WoS][Pmid][serval:BIB_00752F4BACDF]
1975
 
A propos de quelques anomalies chromosomiques mineures [Several minor chromosome anomalies]
Grosset L., Jotterand M., Catti A., 1975/10. Journal de Genetique Humaine, 23 SUPPL pp. 115-7.
[WoS][Pmid][serval:BIB_E5938857C593]
 
Le manul Otocolobus manul (Pallas 1776): son caryotype et sa position dans la classification des Felides [The manul Octocolobus manul (Pallas 1776): its karyotype and position in the classification of the Felidae]
Schauenberg P., Jotterand M., 1975/07. Revue Suisse de Zoologie, 82 (2) pp. 425-9.
[Pmid][serval:BIB_D1C5057F93FB]
 
The African Mus (Pigmy-Mice): The Role of Chromosomal Polymorphism in Speciation.
Jotterand M., 1975/01. Caryologia, 28 (3) pp. 335-344.
[DOI][WoS][serval:BIB_A9672EE92FB9]
1974
 
A chromosome mutation affecting the number of nucleoli in Xenopus borealis Parker
Jotterand M., Fischberg M., 1974/09. Experientia, 30 (9) pp. 1003-5.
[WoS][Pmid][serval:BIB_A93A1D4C7EF5]
1972
 
Le polymorphisme chromosomique des Mus (Leggadas) africains. Cytogenetique, zoogeographie, evolution. [Chromosome polymorphism of Mus (Leggadas) africains. Cytogenetics, zoogeography and evolution]
Jotterand M., 1972. Revue Suisse de Zoologie, 79 (1) pp. 287-359.
[Pmid][serval:BIB_A0081AC5AC39]
1971
 
La formule chromosomique de quatre especes de Felidae. [Chromosome arrangement of 4 species of Felidae]
Jotterand M., 1971/12. Revue Suisse de Zoologie, 78 (4) pp. 1248-51.
[Pmid][serval:BIB_489D0EEB8566]
1970
 
Un nouveau système polymorphe robertsonien chez une nouvelle espece de "Leggada" (Mus goundae Petter) [A new robertsonian polymorphic system in a new species of "Leggada" (Mus goundae Petter)]
Jotterand M., 1970/12. Experientia, 26 (12) pp. 1360-1.
[WoS][Pmid][serval:BIB_75A1C5C05FDB]
 
Nouveau systeme polymorphe non-robertsonien chez des "Leggadas" (Mus sp.) de republique Centrafricaine. [New non-Robertsonian polymorphous system in the "Leggadas" (Mus sp.) of the Centrafricain Republic]
Matthey R., Jotterand M., 1970/09. Revue Suisse de Zoologie, 77 (3) pp. 630-5.
[Pmid][serval:BIB_23350DA90E3F]
Partagez:
Unicentre - CH-1015 Lausanne
Suisse
Tél. +41 21 692 11 11
Canton de Vaud
Swiss University