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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Ker… See abstract for full author list ➔ Jacquemont S, et al. Among authors: dieterich k. Nature. 2011 Aug 31;478(7367):97-102. doi: 10.1038/nature10406. Nature. 2011. PMID: 21881559 Free PMC article.
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
Thevenon J, Monnier N, Callier P, Dieterich K, Francoise M, Montgomery T, Kjaergaard S, Neas K, Dixon J, Dahm TL, Huet F, Ragon C, Mosca-Boidron AL, Marle N, Duplomb L, Aubriot-Lorton MH, Mugneret F, Vokes SA, Tucker HW, Lunardi J, Faivre L, Jouk PS, Thauvin-Robinet C. Thevenon J, et al. Among authors: dieterich k. Am J Med Genet A. 2014 Dec;164A(12):3027-34. doi: 10.1002/ajmg.a.36751. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25258245
13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia.
Poreau B, Lin S, Bosson C, Dieterich K, Satre V, Devillard F, Guigue V, Ronin C, Brouillet S, Barbier C, Jouk PS, Coutton C. Poreau B, et al. Among authors: dieterich k. Eur J Med Genet. 2015 Oct;58(10):526-30. doi: 10.1016/j.ejmg.2015.09.003. Epub 2015 Sep 10. Eur J Med Genet. 2015. PMID: 26365529
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium. D'Angelo D, et al. JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123. JAMA Psychiatry. 2016. PMID: 26629640 Free PMC article.
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L. El Chehadeh S, et al. Among authors: dieterich k. Clin Genet. 2017 Apr;91(4):576-588. doi: 10.1111/cge.12898. Epub 2017 Feb 16. Clin Genet. 2017. PMID: 27761913
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.
Mattioli F, Schaefer E, Magee A, Mark P, Mancini GM, Dieterich K, Von Allmen G, Alders M, Coutton C, van Slegtenhorst M, Vieville G, Engelen M, Cobben JM, Juusola J, Pujol A, Mandel JL, Piton A. Mattioli F, et al. Among authors: dieterich k. Am J Hum Genet. 2017 Jan 5;100(1):105-116. doi: 10.1016/j.ajhg.2016.11.010. Epub 2016 Dec 8. Am J Hum Genet. 2017. PMID: 27939639 Free PMC article.
PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.
Le Tanno P, Breton J, Bidart M, Satre V, Harbuz R, Ray PF, Bosson C, Dieterich K, Jaillard S, Odent S, Poke G, Beddow R, Digilio MC, Novelli A, Bernardini L, Pisanti MA, Mackenroth L, Hackmann K, Vogel I, Christensen R, Fokstuen S, Béna F, Amblard F, Devillard F, Vieville G, Apostolou A, Jouk PS, Guebre-Egziabher F, Sartelet H, Coutton C. Le Tanno P, et al. Among authors: dieterich k. J Med Genet. 2017 Jul;54(7):502-510. doi: 10.1136/jmedgenet-2016-104435. Epub 2017 Mar 7. J Med Genet. 2017. PMID: 28270404
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T. Tabet AC, et al. Among authors: dieterich k. NPJ Genom Med. 2017 Oct 23;2:32. doi: 10.1038/s41525-017-0035-2. eCollection 2017. NPJ Genom Med. 2017. PMID: 29263841 Free PMC article.
88 results