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Page 1
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.
Juven A, Nambot S, Piton A, Jean-Marçais N, Masurel A, Callier P, Marle N, Mosca-Boidron AL, Kuentz P, Philippe C, Chevarin M, Duffourd Y, Gautier E, Munnich A, Rio M, Rondeau S, El Chehadeh S, Schaefer É, Gérard B, Bouquillon S, Delorme CV, Francannet C, Laffargue F, Gouas L, Isidor B, Vincent M, Blesson S, Giuliano F, Pichon O, Le Caignec C, Journel H, Perrin-Sabourin L, Fabre-Teste J, Martin D, Vieville G, Dieterich K, Lacombe D, Denommé-Pichon AS, Thauvin-Robinet C, Faivre L. Juven A, et al. Among authors: martin d. Eur J Hum Genet. 2020 Aug;28(8):1044-1055. doi: 10.1038/s41431-020-0582-3. Epub 2020 Feb 18. Eur J Hum Genet. 2020. PMID: 32071410 Free PMC article. Review.
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau JC, Arpin S, Brischoux-Boucher E, Boute O, Burglen L, Caille C, Capri Y, Collignon P, Conrad S, Cormier-Daire V, Delplancq G, Dieterich K, Dollfus H, Fradin M, Faivre L, Fernandes H, Francannet C, Gatinois V, Gerard M, Goldenberg A, Ghoumid J, Grotto S, Guerrot AM, Guichet A, Isidor B, Jacquemont ML, Julia S, Khau Van Kien P, Legendre M, Le Quan Sang KH, Leheup B, Lyonnet S, Magry V, Manouvrier S, Martin D, Morel G, Munnich A, Naudion S, Odent S, Perrin L, Petit F, Philip N, Rio M, Robbe J, Rossi M, Sarrazin E, Toutain A, Van Gils J, Vera G, Verloes A, Weber S, Whalen S, Sanlaville D, Lacombe D, Aladjidi N, Geneviève D. Margot H, et al. Among authors: martin d. Genet Med. 2020 Jan;22(1):181-188. doi: 10.1038/s41436-019-0623-x. Epub 2019 Jul 31. Genet Med. 2020. PMID: 31363182 Free article.
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: martin d. 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.
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.
Avila M, Dyment DA, Sagen JV, St-Onge J, Moog U, Chung BHY, Mo S, Mansour S, Albanese A, Garcia S, Martin DO, Lopez AA, Claudi T, König R, White SM, Sawyer SL, Bernstein JA, Slattery L, Jobling RK, Yoon G, Curry CJ, Merrer ML, Luyer BL, Héron D, Mathieu-Dramard M, Bitoun P, Odent S, Amiel J, Kuentz P, Thevenon J, Laville M, Reznik Y, Fagour C, Nunes ML, Delesalle D, Manouvrier S, Lascols O, Huet F, Binquet C, Faivre L, Rivière JB, Vigouroux C, Njølstad PR, Innes AM, Thauvin-Robinet C. Avila M, et al. Among authors: martin do. Clin Genet. 2016 Apr;89(4):501-506. doi: 10.1111/cge.12688. Epub 2015 Nov 27. Clin Genet. 2016. PMID: 26497935 Free article.
Erratum: Author Correction: 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: martin d. NPJ Genom Med. 2019 Jul 1;4:16. doi: 10.1038/s41525-019-0090-y. eCollection 2019. NPJ Genom Med. 2019. PMID: 31285849 Free PMC article.
Molecular analysis of 53 fragile X families with the probe StB12.3.
Puissant H, Malinge MC, Larget-Piet A, Martin D, Chauveau P, Odent S, Plessis G, Parent P, Lemarec B, Larget-Piet L. Puissant H, et al. Among authors: martin d. Am J Med Genet. 1994 Dec 1;53(4):370-3. doi: 10.1002/ajmg.1320530413. Am J Med Genet. 1994. PMID: 7864047
SARS-CoV-2 Serologic Surveillance Among People Living with HIV in Nigeria, April 2022-January 2023.
Chun HM, Osawe S, Adams-Dabban S, Favaloro J, Iriemenam NC, Dirlikov E, Martin D, Milligan K, Abutu A, Okunoye O, Okoli M, Akanbi O, Akinmulero O, Okonkwo R, Oyedele O, Greby S, Abimiku A, Okoye MIJ, Shiraishi RW, Adegoke D, Bello M, Villeng F, Item II, Gabo S, Abubakar A, Thomas A, Olaleye T, Awala S, Nwatu F, Ugboaja B, Udoh I, Akayi L, Dattijo J, Adenekan T, Aminu-Alhaji A, Ezeuko I; Nigeria SARS-CoV-2 Serosurvey Among PLHIV Working Group, Nigeria SARS-CoV-2 Serosurvey Among PLHIV Working Group. Chun HM, et al. Among authors: martin d. Int J Infect Dis. 2024 Nov 21:107309. doi: 10.1016/j.ijid.2024.107309. Online ahead of print. Int J Infect Dis. 2024. PMID: 39579925 Free article.
Age-Related Changes in the Cholinergic System in Adults with Down Syndrome Assessed Using [ 18 F]-Fluoroethoxybenzovesamicol Positron Emission Tomography Imaging.
Russell JK, Conley AC, Boyd BD, Begnoche JP, Schlossberg R, Stranick A, Rosenberg AJ, Acosta LMY, Martin D, Neal Y, Kanel P, Albin RL, Rafii MS, Dumas J, Newhouse PA. Russell JK, et al. Among authors: martin d. medRxiv [Preprint]. 2024 Nov 1:2024.10.28.24316136. doi: 10.1101/2024.10.28.24316136. medRxiv. 2024. PMID: 39574852 Free PMC article. Preprint.
9,211 results