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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
1997 1
1999 1
2000 3
2001 2
2002 3
2003 6
2004 1
2005 7
2006 4
2007 1
2008 2
2009 8
2010 9
2011 8
2012 4
2013 4
2014 9
2015 6
2016 3
2017 2
2018 2
2019 11
2020 12
2021 3
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94 results
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Page 1
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study, Klee EW, Lefebvre V, Clark KJ, Depienne C. Zawerton A, et al. Among authors: jaillard s. Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3. Genet Med. 2020. PMID: 31578471
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. Among authors: jaillard s. 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.
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: jaillard s. 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
[Autophagy and spermatozoa].
Buschiazzo A, Yefimova M, Bourmeyster N, Fautrel A, Burel A, Neyroud AS, Pimentel C, Jaillard S, Jégou B, Ravel C. Buschiazzo A, et al. Among authors: jaillard s. Med Sci (Paris). 2019 Nov;35(11):852-858. doi: 10.1051/medsci/2019172. Epub 2019 Dec 17. Med Sci (Paris). 2019. PMID: 31845876 Free article. Review. French.
New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing.
Jaillard S, Bell K, Akloul L, Walton K, McElreavy K, Stocker WA, Beaumont M, Harrisson C, Jääskeläinen T, Palvimo JJ, Robevska G, Launay E, Satié AP, Listyasari N, Bendavid C, Sreenivasan R, Duros S, van den Bergen J, Henry C, Domin-Bernhard M, Cornevin L, Dejucq-Rainsford N, Belaud-Rotureau MA, Odent S, Ayers KL, Ravel C, Tucker EJ, Sinclair AH. Jaillard S, et al. Maturitas. 2020 Nov;141:9-19. doi: 10.1016/j.maturitas.2020.06.004. Epub 2020 Jun 20. Maturitas. 2020. PMID: 33036707 Free article.
Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility.
Jaillard S, Sreenivasan R, Beaumont M, Robevska G, Dubourg C, Knarston IM, Akloul L, van den Bergen J, Odent S, Croft B, Jouve G, Grover SR, Duros S, Pimentel C, Belaud-Rotureau MA, Ayers KL, Ravel C, Tucker EJ, Sinclair AH. Jaillard S, et al. Maturitas. 2020 Jan;131:78-86. doi: 10.1016/j.maturitas.2019.10.011. Epub 2019 Nov 9. Maturitas. 2020. PMID: 31787151
Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.
Dupont C, Grati FR, Choy KW, Jaillard S, Toutain J, Maurin ML, Martínez-Conejero JA, Beneteau C, Coussement A, Molina-Gomes D, Horelli-Kuitunen N, Aboura A, Tabet AC, Besseau-Ayasse J, Bessieres-Grattagliano B, Simoni G, Ayala G, Benzacken B, Vialard F. Dupont C, et al. Among authors: jaillard s. Prenat Diagn. 2015 Jan;35(1):35-43. doi: 10.1002/pd.4478. Epub 2014 Sep 16. Prenat Diagn. 2015. PMID: 25118001
[Neo-oogenesis in the adult ovary: What do we know?].
Sun S, Pimentel C, Yefimova M, Jaillard S, Ravel C. Sun S, et al. Among authors: jaillard s. Gynecol Obstet Fertil Senol. 2019 May;47(5):478-483. doi: 10.1016/j.gofs.2019.02.011. Epub 2019 Feb 26. Gynecol Obstet Fertil Senol. 2019. PMID: 30818039 Free article. French.
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