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Year Number of Results
2012 1
2013 2
2014 3
2015 3
2016 5
2017 2
2018 3
2019 2
2020 1
2023 2
2024 1

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19 results

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Page 1
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, Missirian C, Willems M, Odent S, Lucas J, Dubourg C, Schaefer E, Scheidecker S, Lespinasse J, Goldenberg A, Guerrot AM, Joly-Helas G, Chambon P, Le Caignec C, David A, Coutton C, Satre V, Vieville G, Amblard F, Harbuz R, Sanlaville D, Till M, Vincent-Delorme C, Colson C, Andrieux J, Naudion S, Toutain J, Rooryck C, de Fréminville B, Prieur F, Daire VC, Amram D, Kleinfinger P, Schulze MB, Raabe-Meyer G, Courage C, Lemke J, Stefanou EG, Loretta T, Emmanouil M, Tzeli SK, Sodowska H, Anderson J, Nandini A, Copin H, Garçon L, Liehr T, Morin G. Jedraszak G, et al. Among authors: amblard f. Am J Med Genet A. 2024 Apr;194(4):e63476. doi: 10.1002/ajmg.a.63476. Epub 2023 Nov 16. Am J Med Genet A. 2024. PMID: 37974505
The ANTENATAL multicentre study to predict postnatal renal outcome in fetuses with posterior urethral valves: objectives and design.
Buffin-Meyer B, Klein J, van der Zanden LFM, Levtchenko E, Moulos P, Lounis N, Conte-Auriol F, Hindryckx A, Wühl E, Persico N, Oepkes D, Schreuder MF, Tkaczyk M, Ariceta G, Fossum M, Parvex P, Feitz W, Olsen H, Montini G, Decramer S, Schanstra JP; ANTENATAL Consortium. Buffin-Meyer B, et al. Clin Kidney J. 2019 Sep 26;13(3):371-379. doi: 10.1093/ckj/sfz107. eCollection 2020 Jun. Clin Kidney J. 2019. PMID: 32699617 Free PMC article.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier PA, Bardel C, Afenjar A, Amblard F, Amiel J, Blesson S, Callier P, Capri Y, Collignon P, Cordier MP, Coubes C, Demeer B, Chaussenot A, Demurger F, Devillard F, Doco-Fenzy M, Dupont C, Dupont JM, Dupuis-Girod S, Faivre L, Gilbert-Dussardier B, Guerrot AM, Houlier M, Isidor B, Jaillard S, Joly-Hélas G, Kremer V, Lacombe D, Le Caignec C, Lebbar A, Lebrun M, Lesca G, Lespinasse J, Levy J, Malan V, Mathieu-Dramard M, Masson J, Masurel-Paulet A, Mignot C, Missirian C, Morice-Picard F, Moutton S, Nadeau G, Pebrel-Richard C, Odent S, Paquis-Flucklinger V, Pasquier L, Philip N, Plutino M, Pons L, Portnoï MF, Prieur F, Puechberty J, Putoux A, Rio M, Rooryck-Thambo C, Rossi M, Sarret C, Satre V, Siffroi JP, Till M, Touraine R, Toutain A, Toutain J, Valence S, Verloes A, Whalen S, Edery P, Tabet AC, Sanlaville D. Schluth-Bolard C, et al. Among authors: amblard f. J Med Genet. 2019 Aug;56(8):526-535. doi: 10.1136/jmedgenet-2018-105778. Epub 2019 Mar 28. J Med Genet. 2019. PMID: 30923172
Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction.
Petre G, Lorès P, Sartelet H, Truffot A, Poreau B, Brandeis S, Martinez G, Satre V, Harbuz R, Ray PF, Amblard F, Devillard F, Vieville G, Berger F, Jouk PS, Vaiman D, Touré A, Coutton C, Bidart M. Petre G, et al. Among authors: amblard f. Clin Genet. 2018 Dec;94(6):575-580. doi: 10.1111/cge.13449. Epub 2018 Oct 17. Clin Genet. 2018. PMID: 30221343
Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature.
Lamotte A, Martinez G, Devillard F, Hograindleur JP, Satre V, Coutton C, Harbuz R, Amblard F, Lespinasse J, Benchaib M, Bessonnat J, Brouillet S, Hennebicq S. Lamotte A, et al. Among authors: amblard f. Basic Clin Androl. 2018 May 7;28:5. doi: 10.1186/s12610-018-0069-z. eCollection 2018. Basic Clin Androl. 2018. PMID: 29760927 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: amblard f. 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
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.
Bidart M, El Atifi M, Miladi S, Rendu J, Satre V, Ray PF, Bosson C, Devillard F, Lehalle D, Malan V, Amiel J, Mencarelli MA, Baldassarri M, Renieri A, Clayton-Smith J, Vieville G, Thevenon J, Amblard F, Berger F, Jouk PS, Coutton C. Bidart M, et al. Among authors: amblard f. Genet Med. 2017 Jun;19(6):701-710. doi: 10.1038/gim.2016.180. Epub 2016 Dec 1. Genet Med. 2017. PMID: 27906199 Free article.
Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.
Wambergue C, Zouari R, Fourati Ben Mustapha S, Martinez G, Devillard F, Hennebicq S, Satre V, Brouillet S, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Amblard F, Arnoult C, Ray PF, Coutton C. Wambergue C, et al. Among authors: amblard f. Hum Reprod. 2016 Jun;31(6):1164-72. doi: 10.1093/humrep/dew083. Epub 2016 Apr 19. Hum Reprod. 2016. PMID: 27094479
19 results