Kanetee Busiah

Publications | Mémoires et thèses

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48 publications

Sous presse | 2024 | 2023 | 2022 | 2021 | 2020 | 2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2011 | 2010 | 2009 | 2007 | 2006 | 2004 |
Sous presse
 
Endocrine management of transgender adolescents: Expert consensus of the french society of pediatric endocrinology and diabetology working group.
Brezin F., Busiah K., Leroy C., Fiot E., Bensignor C., Amouroux C., Caquard M., Cartault A., Castets S., Delcour C. et al. Archives de pediatrie. Peer-reviewed.
[DOI][Pmid][serval:BIB_BB3603688565]
2024
 
Mosaic RASopathies concept: different skin lesions, same systemic manifestations?
Morren M.A., Fodstad H., Brems H., Bedoni N., Guenova E., Jacot-Guillarmod M., Busiah K., Giuliano F., Gilliet M., Atallah I., 2024/04/19. Journal of medical genetics, 61 (5) pp. 411-419. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_40C612FFCAF2]
 
Prise en charge interdisciplinaire des adolescent-e-s transgenres et non binaires. L’exemple du Centre hospitalier universitaire vaudois (CHUV) [Interdisciplinary care for gender diverse adolescents. The example of the Centre hospitalier universitaire vaudois (CHUV)]
Schmitt P.A., Busiah K., Morisod Harari M., Jacot-Guillarmod M., Zufferey A., Ambresin A.E., 2024/04/17. Revue medicale suisse, 20 (870) pp. 802-806. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_B11075E4FC2B]
 
Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study.
Busiah K., Roda C., Crosnier A.S., Brassier A., Servais A., Wicker C., Dubois S., Assoun M., Belloche C., Ottolenghi C. et al., 2024/03. Molecular genetics and metabolism, 141 (3) p. 108123. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_EB1304FA1D94]
2023
 
Assessment of Puberty and Hypothalamic-Pituitary-Gonadal Axis Function After Childhood Brain Tumor Treatment.
Rosimont M., Kariyawasam D., Samara-Boustani D., Giani E., Beltrand J., Bolle S., Fresneau B., Puget S., Sainte-Rose C., Alapetite C. et al., 2023/08/18. The Journal of clinical endocrinology and metabolism, 108 (9) pp. e823-e831. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_40AB648DD25F]
 
Evaluation of catch-up growth in severe pediatric Hashimoto's hypothyroidism.
Vincent A., Bouvattier C., Teinturier C., Rodrigue D., Busiah K., Olivier-Petit I., Bony H., Barat P., Cammas B., Coutant R. et al., 2023/04. Archives de pediatrie, 30 (3) pp. 142-148. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_45D4CD126DFB]
Diabète monogénique : pionnier dans la prise en charge par la médecine de précision [Monogenic diabetes : a pioneer in precision medicine management]
Iafrate-Luterbacher F., Dirlewanger M., Hauschild M., Schwitzgebel V.M., Busiah K., 2023/02/22. Revue medicale suisse, 19 (815) pp. 362-367. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_A5446557AAD2]
Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved.
Lam J., Stoppa-Vaucher S., Antoniou M.C., Bouthors T., Ruiz I., Sekarski N., Rutz T., Fries S., Binz P.A., Bütschi F.N. et al., 2023. Frontiers in endocrinology, 14 p. 1190670. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_F5565E7EFFFF]
2022
 
High Prevalence of Early Endocrine Disorders After Childhood Brain Tumors in a Large Cohort.
González Briceño L.G., Kariyawasam D., Samara-Boustani D., Giani E., Beltrand J., Bolle S., Fresneau B., Puget S., Sainte-Rose C., Alapetite C. et al., 2022/04/19. The Journal of clinical endocrinology and metabolism, 107 (5) pp. e2156-e2166. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_52C9C838F101]
Testicular tissue cryopreservation for fertility preservation in prepubertal and adolescent boys: A 6 year experience from a Swiss multi-center network.
Moussaoui D., Surbone A., Adam C., Diesch-Furlanetto T., Girardin C., Bénard J., Vidal I., Bernard F., Busiah K., Bouthors T. et al., 2022. Frontiers in pediatrics, 10 p. 909000. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_DCF614F330C2]
2021
Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8.
Mouron-Hryciuk J., Stoppa-Vaucher S., Busiah K., Bouthors T., Antoniou M.C., Jacot E., Brusgaard K., Christesen H.T., Hussain K., Dwyer A. et al., 2021/03. Annals of pediatric endocrinology & metabolism, 26 (1) pp. 60-65. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_91DFF95FA52E]
 
Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population
El Allali Yasmine, Hermetet Coralie, Bacchetta Justine, Amouroux Cyril, Rothenbuhler Anya, Porquet-Bordes Valérie, Champigny Marie-Alexandrine, Baron Sabine, Barat Pascal, Bony-Trifunovic Hélène et al., 2021/02. European Journal of Endocrinology, 184 (2) pp. 347-355.
[DOI][Pmid][serval:BIB_A85566F23F71]
 
The 2021 European Training Requirements in Paediatric Endocrinology and Diabetes.
Busiah K., Peet A., Tornese G., Weintrob N., Schulga J., Hamza R.T., Koletzko B., Russell R.R., Felice A., Patel L., 2021. Hormone research in paediatrics, 94 (11-12) pp. 441-447. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_A1CC2E072E42]
2020
Syndrome des ovaires polykystiques chez l’adolescente diabétique ou obèse [Polycystic ovary syndrome in obese or type 1 diabetic (T1D) adolescent girls]
Bouthors T., Elowe-Gruau É., Antoniou M.C., Hryciuk J., Stoppa-Vaucher S., Ruiz Arana I.L., Diserens C., Busiah K., Hauschild M., 2020/10/14. Revue medicale suisse, 16 (710) pp. 1941-1944. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_60A93331D71E]
 
An empty hemiscrotum: Transverse testicular ectopia
Sommer Christelle, Stathopoulos Eleuthere, Antoniou Maria Christina, Busiah Kanetee, Hauschild Michael, Sanchez Oliver, 2020/08. Journal of Pediatric Surgery Case Reports, 59 p. 101532.
[DOI][serval:BIB_33B3824C222D]
 
Long-term Metabolic and Socioeducational Outcomes of Transient Neonatal Diabetes: A Longitudinal and Cross-sectional Study.
Le Bourgeois F., Beltrand J., Baz B., Julla J.B., Riveline J.P., Simon A., Flechtner I., Ait Djoudi M., Fauret-Amsellem A.L., Vial Y. et al., 2020/06. Diabetes care, 43 (6) pp. 1191-1199. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_B128E834DF4C]
Neonatal Diabetes Mellitus.
Beltrand J., Busiah K., Vaivre-Douret L., Fauret A.L., Berdugo M., Cavé H., Polak M., 2020. Frontiers in pediatrics, 8 p. 540718. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E58337A733C1]
2019
 
Improved General and Height-Specific Quality of Life in Children With Short Stature After 1 Year on Growth Hormone.
González Briceño L.G., Viaud M., Beltrand J., Flechtner I., Dassa Y., Samara-Boustani D., Thalassinos C., Pauwels C., Busiah K., Pinto G. et al., 2019/06/01. The Journal of clinical endocrinology and metabolism, 104 (6) pp. 2103-2111. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C666CE15ED46]
 
Glibenclamide oral suspension: Suitable and effective in patients with neonatal diabetes.
Beltrand J., Baptiste A., Busiah K., Bouazza N., Godot C., Boucheron A., Djerada Z., Gozalo C., Berdugo M., Tréluyer J.M. et al., 2019/05. Pediatric diabetes, 20 (3) pp. 246-254. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_A477778D7C28]
 
Tous à l’école, un outil pour améliorer la scolarisation des élèves malades
Busiah Kanetee, 2019/02/19. LA REVUE DE SANTÉ SCOLAIRE ET UNIVERSITAIRE.
[serval:BIB_0652EF274AB9]
2018
 
Successful off-label sulfonylurea treatment of neonatal diabetes mellitus due to chromosome 6 abnormalities.
Garcin L., Kariyawasam D., Busiah K., Fauret-Amsellem A.L., Le Bourgeois F., Vaivre-Douret L., Cavé H., Polak M., Beltrand J., 2018/06. Pediatric diabetes, 19 (4) pp. 663-669. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_6D291E420568]
 
A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome.
Hancili S., Bonnefond A., Philippe J., Vaillant E., De Graeve F., Sand O., Busiah K., Robert J.J., Polak M., Froguel P. et al., 2018/05. Pediatric diabetes, 19 (3) pp. 381-387. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_EC53B208F6AC]
2017
 
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Habarou F., Hamel Y., Haack T.B., Feichtinger R.G., Lebigot E., Marquardt I., Busiah K., Laroche C., Madrange M., Grisel C. et al., 2017/08/03. American journal of human genetics, 101 (2) pp. 283-290. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_36775B632336]
 
The transition from pediatric to adult care for youth with epilepsy: Basic biological, sociological, and psychological issues.
Camfield P., Camfield C., Busiah K., Cohen D., Pack A., Nabbout R., 2017/04. Epilepsy & behavior, 69 pp. 170-176. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7599B667BF6B]
 
Diabète sucré néonatal
Beltrand Jacques, Busiah Kanetee, Vaivre-Douret Laurence, Scharfmann Raphael, Cave Hélène, Polak Michel, 2017/01. dans Bases scientifiques en néonatalogie : de la physiopathologie à la thérapeutique basée sur l’évidence .
[serval:BIB_92281902490D]
 
High Prevalence of Polycystic Ovary Syndrome in Type 1 Diabetes Mellitus Adolescents: Is There a Difference Depending on the NIH and Rotterdam Criteria?
Busiah K., Colmenares A., Bidet M., Tubiana-Rufi N., Levy-Marchal C., Delcroix C., Jacquin P., Martin D., Benadjaoud L., Jacqz-Aigrain E. et al., 2017. Hormone research in paediatrics, 87 (5) pp. 333-341. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_A23D2E3852AE]
 
Hypo- et hyperthyroïdie de l'enfant
Busiah Kanetee, Giabicani Eloise, 2017. AKOS (Traité de Médecine), 12 (3) pp. 1-9.
[serval:BIB_14FF0EEE4B73]
2016
 
Evaluation of the pharmacokinetics of glibenclamide tablet given, off label, orally to children suffering from neonatal syndromic hyperglycemia.
Bouazza N., Djerada Z., Gozalo C., Busiah K., Beltrand J., Berdugo M., Urien S., Treluyer J.M., Polak M., 2016/11. European journal of clinical pharmacology, 72 (11) pp. 1373-1379. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D7382EF83326]
2015
 
Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations.
Beltrand J., Elie C., Busiah K., Fournier E., Boddaert N., Bahi-Buisson N., Vera M., Bui-Quoc E., Ingster-Moati I., Berdugo M. et al., 2015/11. Diabetes care, 38 (11) pp. 2033-2041. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7EC2C637743B]
 
Differentiating Transient Idiopathic Hyperglycaemia and Neonatal Diabetes Mellitus in Preterm Infants.
Busiah K., Auger J., Fauret-Amsellem A.L., Dahan S., Pouvreau N., Cavé H., Polak M., Mitanchez D., 2015. Hormone research in paediatrics, 84 (1) pp. 68-72. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_DA21B539BB3C]
2014
 
RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human β cells.
Chandra V., Albagli-Curiel O., Hastoy B., Piccand J., Randriamampita C., Vaillant E., Cavé H., Busiah K., Froguel P., Vaxillaire M. et al., 2014/12/24. Cell reports, 9 (6) pp. 2206-2218. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_8A12862936B2]
 
Human pancreas endocrine cell populations and activating ABCC8 mutations.
Busiah K., Verkarre V., Cavé H., Scharfmann R., Polak M., 2014. Hormone research in paediatrics, 82 (1) pp. 59-64. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9B091D8C7991]
2013
 
Diabètes sucrés du très jeune enfant [Early onset diabetes mellitus]
Busiah K., Vaivre-Douret L., Yachi C., Cavé H., Polak M., 2013/12. Archives de pediatrie, 20 Suppl 4 pp. S117-26. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9F6BAEF15C96]
 
Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].
Busiah K., Drunat S., Vaivre-Douret L., Bonnefond A., Simon A., Flechtner I., Gérard B., Pouvreau N., Elie C., Nimri R. et al., 2013/11. The lancet. Diabetes & endocrinology, 1 (3) pp. 199-207. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9B0900787FD9]
 
Childhood craniopharyngioma: hypothalamus-sparing surgery decreases the risk of obesity.
Elowe-Gruau E., Beltrand J., Brauner R., Pinto G., Samara-Boustani D., Thalassinos C., Busiah K., Laborde K., Boddaert N., Zerah M. et al., 2013/06. The Journal of clinical endocrinology and metabolism, 98 (6) pp. 2376-2382. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2BA6FC7057BB]
 
Transcription factor gene MNX1 is a novel cause of permanent neonatal diabetes in a consanguineous family.
Bonnefond A., Vaillant E., Philippe J., Skrobek B., Lobbens S., Yengo L., Huyvaert M., Cavé H., Busiah K., Scharfmann R. et al., 2013/05. Diabetes & metabolism, 39 (3) pp. 276-280. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_FE702D023EB7]
 
Small-molecule inhibitors of the cystic fibrosis transmembrane conductance regulator increase pancreatic endocrine cell development in rat and mouse.
Zertal-Zidani S., Busiah K., Edelman A., Polak M., Scharfmann R., 2013/02. Diabetologia, 56 (2) pp. 330-339. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_4930B7DC91BF]
2011
 
Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.
Bonnefond A., Lomberk G., Buttar N., Busiah K., Vaillant E., Lobbens S., Yengo L., Dechaume A., Mignot B., Simon A. et al., 2011/08/12. The Journal of biological chemistry, 286 (32) pp. 28414-28424. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_869782611A03]
2010
 
Echo des Congrès de l’European Society of Paediatric Endocrinology, sept 2010
Gourdy Pierre (eds.), 2010/12..
[serval:BIB_D0DC4C58BD3B]
 
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.
Bonnefond A., Durand E., Sand O., De Graeve F., Gallina S., Busiah K., Lobbens S., Simon A., Bellanné-Chantelot C., Létourneau L. et al., 2010/10/26. PloS one, 5 (10) pp. e13630. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_232E8F4A060D]
2009
 
Childhood craniopharyngioma: greater hypothalamic involvement before surgery is associated with higher homeostasis model insulin resistance index
Trivin Christine, Busiah Kanetee, Mahlaoui Nizar, Recasens Christophe, Souberbielle Jean-Claude, Zerah Michel, Sainte-Rose Christian, Brauner Raja, 2009/12. BMC Pediatrics, 9 (1).
[DOI][WoS][Pmid][serval:BIB_DD94514EF58E]
 
Anomalies génétiques de sécrétion de l’insuline et diabète sucré de la petite enfance
Busiah Kanetee, Simon Albane, Polak Michel, 2009/01. Métabolisme Hormone Diabète et Nutrition, .
[serval:BIB_95B41178BD21]
2007
 
Diagnostic des retards pubertaires [Diagnosis of delayed puberty]
Busiah K., Belien V., Dallot N., Fila M., Guilbert J., Harroche A., Leger J., 2007/09. Archives de pediatrie, 14 (9) pp. 1101-1110. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_BADCCFB6E93F]
 
New ABCC8 Mutations in Relapsing Neonatal Diabetes and Clinical Features
Vaxillaire M., Dechaume A., Busiah K., Cave H., Pereira S., Scharfmann R., de Nanclares G. P., Castano L., Froguel P., Polak M., 2007/06/01. Diabetes, 56 (6) pp. 1737-1741.
[DOI][WoS][Pmid][serval:BIB_B724C946584A]
2006
 
Activating Mutations in theABCC8Gene in Neonatal Diabetes Mellitus
Babenko Andrey P., Polak Michel, Cavé Hélène, Busiah Kanetee, Czernichow Paul, Scharfmann Raphael, Bryan Joseph, Aguilar-Bryan Lydia, Vaxillaire Martine, Froguel Philippe, 2006/08/03. New England Journal of Medicine, 355 (5) pp. 456-466.
[DOI][WoS][Pmid][serval:BIB_D0AFB006775F]
 
Diabète néonatal : maladie de l’empreinte génétique, mais pas seulement.
Polak Michel, Busiah Kanetee, Cave Hélène, 2006/01. Métabolisme Hormone Diabète et Nutrition.
[serval:BIB_2E7DA962FEB8]
 
Diabètes sucrés néonatals
Polak M., Busiah K., Metz C., Cavé H., 2006/01. EMC - Endocrinologie - Nutrition, 3 (4) pp. 1-8.
[DOI][serval:BIB_38A6BDA5B506]
2004
 
Kir6.2 Mutations Are a Common Cause of Permanent Neonatal Diabetes in a Large Cohort of French Patients
Vaxillaire M., Populaire C., Busiah K., Cave H., Gloyn A. L., Hattersley A. T., Czernichow P., Froguel P., Polak M., 2004/10/01. Diabetes, 53 (10) pp. 2719-2722.
[DOI][WoS][Pmid][serval:BIB_31947B49DD20]
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