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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 8
2022 13
2023 1
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Search Results

109 results
Results by year
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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 Free PMC article.
[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.
Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.
Mary L, Lavillaureix A, Perrot A, Loget P, Launay E, Leborgne AS, Demurger F, Fradin M, Le Bouar G, Quélin C, Dubourg C, Pasquier L, Odent S, Belaud-Rotureau MA, Jaillard S. Mary L, et al. Among authors: jaillard s. Eur J Med Genet. 2022 Feb;65(2):104422. doi: 10.1016/j.ejmg.2022.104422. Epub 2022 Jan 10. Eur J Med Genet. 2022. PMID: 35026468 Free article. Review.
[The Sertoli cell].
Ravel C, Jaillard S. Ravel C, et al. Among authors: jaillard s. Morphologie. 2011 Dec;95(311):151-8. doi: 10.1016/j.morpho.2011.07.118. Epub 2011 Nov 16. Morphologie. 2011. PMID: 22094070 Review. French.
[Cytogenetics profiles of renal carcinoma].
Dugay F, Dagher J, Verhoest G, Henry C, Jaillard S, Arlot-Bonnemains Y, Bensalah K, Vigneau C, Rioux-Leclercq N, Belaud-Rotureau MA. Dugay F, et al. Among authors: jaillard s. Morphologie. 2014 Mar;98(320):1-7. doi: 10.1016/j.morpho.2014.02.006. Epub 2014 Mar 18. Morphologie. 2014. PMID: 24656859 Free article. Review. French.
Extra-cellular vesicles of the male genital tract: new actors in male fertility?
Neyroud AS, Chiechio R, Yefimova M, Lo Faro MJ, Dejucq-Rainsford N, Jaillard S, Even-Hernandez P, Marchi V, Ravel C. Neyroud AS, et al. Among authors: jaillard s. Basic Clin Androl. 2021 Oct 14;31(1):25. doi: 10.1186/s12610-021-00141-9. Basic Clin Androl. 2021. PMID: 34645388 Free PMC article. Review.
TP63-truncating variants cause isolated premature ovarian insufficiency.
Tucker EJ, Jaillard S, Grover SR, van den Bergen J, Robevska G, Bell KM, Sadedin S, Hanna C, Dulon J, Touraine P, Sinclair AH. Tucker EJ, et al. Among authors: jaillard s. Hum Mutat. 2019 Jul;40(7):886-892. doi: 10.1002/humu.23744. Epub 2019 Mar 29. Hum Mutat. 2019. PMID: 30924587
109 results