Odent S - Search Results

1

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.

Cordeddu V, Yin JC, Gunnarsson C, Virtanen C, Drunat S, Lepri F, De Luca A, Rossi C, Ciolfi A, Pugh TJ, Bruselles A, Priest JR, Pennacchio LA, Lu Z, Danesh A, Quevedo R, Hamid A, Martinelli S, Pantaleoni F, Gnazzo M, Daniele P, Lissewski C, Bocchinfuso G, Stella L, Odent S, Philip N, Faivre L, Vlckova M, Seemanova E, Digilio C, Zenker M, Zampino G, Verloes A, Dallapiccola B, Roberts AE, Cavé H, Gelb BD, Neel BG, Tartaglia M. Cordeddu V, et al. Among authors: odent s. Hum Mutat. 2015 Nov;36(11):1080-7. doi: 10.1002/humu.22834. Epub 2015 Aug 3. Hum Mutat. 2015. PMID: 26173643 Free PMC article.

2

Opitz GBBB syndrome: chromosomal evidence of an X-linked form.

Verloes A, David A, Odent S, Toutain A, André MJ, Lucas J, Le Marec B. Verloes A, et al. Among authors: odent s. Am J Med Genet. 1995 Oct 23;59(1):123-8. doi: 10.1002/ajmg.1320590124. Am J Med Genet. 1995. PMID: 8849003

3

Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review.

Odent S, Le Marec B, Toutain A, David A, Vigneron J, Tréguier C, Jouan H, Milon J, Fryns JP, Verloes A. Odent S, et al. Am J Med Genet. 1998 Feb 3;75(4):389-94. Am J Med Genet. 1998. PMID: 9482645 Review.

4

Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.

Saugier-Veber P, Martin C, Le Meur N, Lyonnet S, Munnich A, David A, Hénocq A, Héron D, Jonveaux P, Odent S, Manouvrier S, Moncla A, Morichon N, Philip N, Satge D, Tosi M, Frébourg T. Saugier-Veber P, et al. Among authors: odent s. Hum Mutat. 1998;12(4):259-66. doi: 10.1002/(SICI)1098-1004(1998)12:4<259::AID-HUMU7>3.0.CO;2-A. Hum Mutat. 1998. PMID: 9744477

5

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.

Faivre L, Gosset P, Cormier-Daire V, Odent S, Amiel J, Giurgea I, Nassogne MC, Pasquier L, Munnich A, Romana S, Prieur M, Vekemans M, De Blois MC, Turleau C. Faivre L, et al. Among authors: odent s. Eur J Hum Genet. 2002 Nov;10(11):699-706. doi: 10.1038/sj.ejhg.5200879. Eur J Hum Genet. 2002. PMID: 12404101

6

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.

Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, Durou MR, Odent S, David V. Dubourg C, et al. Among authors: odent s. Hum Mutat. 2004 Jul;24(1):43-51. doi: 10.1002/humu.20056. Hum Mutat. 2004. PMID: 15221788

7

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

Badens C, Lacoste C, Philip N, Martini N, Courrier S, Giuliano F, Verloes A, Munnich A, Leheup B, Burglen L, Odent S, Van Esch H, Levy N. Badens C, et al. Among authors: odent s. Clin Genet. 2006 Jul;70(1):57-62. doi: 10.1111/j.1399-0004.2006.00641.x. Clin Genet. 2006. PMID: 16813605

8

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S, Fallet-Bianco C, Pasquier L, Toutain A, Tuy FP, Bienvenu T, Joriot S, Odent S, Ville D, Desguerre I, Goldenberg A, Moutard ML, Fryns JP, van Esch H, Harvey RJ, Siebold C, Flint J, Beldjord C, Chelly J. Poirier K, et al. Among authors: odent s. Hum Mutat. 2007 Nov;28(11):1055-64. doi: 10.1002/humu.20572. Hum Mutat. 2007. PMID: 17584854

9

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.

Roessler E, Lacbawan F, Dubourg C, Paulussen A, Herbergs J, Hehr U, Bendavid C, Zhou N, Ouspenskaia M, Bale S, Odent S, David V, Muenke M. Roessler E, et al. Among authors: odent s. Hum Mutat. 2009 Apr;30(4):E541-54. doi: 10.1002/humu.20982. Hum Mutat. 2009. PMID: 19177455 Free PMC article.

10

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.

Chassaing N, Golzio C, Odent S, Lequeux L, Vigouroux A, Martinovic-Bouriel J, Tiziano FD, Masini L, Piro F, Maragliano G, Delezoide AL, Attié-Bitach T, Manouvrier-Hanu S, Etchevers HC, Calvas P. Chassaing N, et al. Among authors: odent s. Hum Mutat. 2009 May;30(5):E673-81. doi: 10.1002/humu.21023. Hum Mutat. 2009. PMID: 19309693

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