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Page 1
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, Keren B, K… See abstract for full author list ➔ Jacquemont S, et al. Nature. 2011 Aug 31;478(7367):97-102. doi: 10.1038/nature10406. Nature. 2011. PMID: 21881559 Free PMC article.
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Chèvre JC, Lecoeur C, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cuisset JM, Lemaitre MP, Ambresin AE, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini A, Hadjikhani N, Campion D, Guilmatre A, Goldenberg A, Calmels N, Mandel JL, Le Caignec C, David A, Isidor B, Cordier MP, Dupuis-Girod S, Labalme A, Sanlaville D, Béri-Dexheimer M, Jonveaux P, Leheup B, Ounap K, Bochukova EG, Henning E, Keogh J, Ellis RJ, Macdermot KD, van Haelst MM, Vincent-Delorme C, Plessis G, Touraine R, Philippe A, Malan V, Mathieu-Dramard M, Chiesa J, Blaumeiser B, Kooy RF, Caiazzo R, Pigeyre M, Balkau B, Sladek R, Bergmann S, Mooser V, Waterworth D, Reymond A, Vollenweider P, Waeber G, Kurg A, Palta P, Esko T, Metspalu A, Nelis M, Elliott P, Hartikainen AL, McCarthy MI, Peltonen L, Carlsson L, Jacobson P, Sjöström L, Huang N, Hurles ME, O'Rahilly S, Farooqi IS, Männik K, Jarvelin MR, Pattou F, Meyre D, Walley AJ, Coin LJ, Blakemore AI, Froguel P, Beckmann JS. Walters RG, et al. Nature. 2010 Feb 4;463(7281):671-5. doi: 10.1038/nature08727. Nature. 2010. PMID: 20130649 Free PMC article.
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.
Schiff M, Delahaye A, Andrieux J, Sanlaville D, Vincent-Delorme C, Aboura A, Benzacken B, Bouquillon S, Elmaleh-Berges M, Labalme A, Passemard S, Perrin L, Manouvrier-Hanu S, Edery P, Verloes A, Drunat S. Schiff M, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):303-8. doi: 10.1016/j.ejmg.2010.06.009. Epub 2010 Jul 3. Eur J Med Genet. 2010. PMID: 20599530
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.
Dubourg C, Sanlaville D, Doco-Fenzy M, Le Caignec C, Missirian C, Jaillard S, Schluth-Bolard C, Landais E, Boute O, Philip N, Toutain A, David A, Edery P, Moncla A, Martin-Coignard D, Vincent-Delorme C, Mortemousque I, Duban-Bedu B, Drunat S, Beri M, Mosser J, Odent S, David V, Andrieux J. Dubourg C, et al. Eur J Med Genet. 2011 Mar-Apr;54(2):144-51. doi: 10.1016/j.ejmg.2010.11.003. Epub 2010 Nov 20. Eur J Med Genet. 2011. PMID: 21094706 Free article.
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
Wentzel C, Rajcan-Separovic E, Ruivenkamp CA, Chantot-Bastaraud S, Metay C, Andrieux J, Annerén G, Gijsbers AC, Druart L, Hyon C, Portnoi MF, Stattin EL, Vincent-Delorme C, Kant SG, Steinraths M, Marlin S, Giurgea I, Thuresson AC. Wentzel C, et al. Eur J Hum Genet. 2011 Sep;19(9):959-64. doi: 10.1038/ejhg.2011.71. Epub 2011 Apr 27. Eur J Hum Genet. 2011. PMID: 21522184 Free PMC article.
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium. Zufferey F, et al. J Med Genet. 2012 Oct;49(10):660-8. doi: 10.1136/jmedgenet-2012-101203. J Med Genet. 2012. PMID: 23054248 Free PMC article.
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
Plaisancié J, Bailleul-Forestier I, Gaston V, Vaysse F, Lacombe D, Holder-Espinasse M, Abramowicz M, Coubes C, Plessis G, Faivre L, Demeer B, Vincent-Delorme C, Dollfus H, Sigaudy S, Guillén-Navarro E, Verloes A, Jonveaux P, Martin-Coignard D, Colin E, Bieth E, Calvas P, Chassaing N. Plaisancié J, et al. Am J Med Genet A. 2013 Apr;161A(4):671-8. doi: 10.1002/ajmg.a.35747. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401279
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J. Vanlerberghe C, et al. Eur J Med Genet. 2015 Mar;58(3):140-7. doi: 10.1016/j.ejmg.2015.01.002. Epub 2015 Jan 14. Eur J Med Genet. 2015. PMID: 25596525
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
El Khattabi L, Jaillard S, Andrieux J, Pasquier L, Perrin L, Capri Y, Benmansour A, Toutain A, Marcorelles P, Vincent-Delorme C, Journel H, Henry C, De Barace C, Devisme L, Dubourg C, Demurger F, Lucas J, Belaud-Rotureau MA, Amiel J, Malan V, De Blois MC, De Pontual L, Lebbar A, Le Dû N, Germain DP, Pinard JM, Pipiras E, Tabet AC, Aboura A, Verloes A. El Khattabi L, et al. Am J Med Genet A. 2015 Jun;167(6):1252-61. doi: 10.1002/ajmg.a.36932. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25847481 Free article. Review.
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