Thauvin-Robinet C - Search Results

1

Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis.

Sorlin A, Maruani A, Aubriot-Lorton MH, Kuentz P, Duffourd Y, Teysseire S, Carmignac V, St-Onge J, Chevarin M, Jouan T, Thauvin-Robinet C, Thevenon J, Faivre L, Rivière JB, Vabres P. Sorlin A, et al. J Invest Dermatol. 2017 Jul;137(7):1575-1578. doi: 10.1016/j.jid.2017.01.035. Epub 2017 Feb 28. J Invest Dermatol. 2017. PMID: 28257793 Free article. No abstract available.

2

Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome.

Rousseau T, Laurent N, Thauvin-Robinet C, Lionnais S, Durand C, Faivre L, Sagot P. Rousseau T, et al. Prenat Diagn. 2002 Aug;22(8):692-6. doi: 10.1002/pd.381. Prenat Diagn. 2002. PMID: 12210578

3

Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.

Faivre L, Le Merrer M, Douvier S, Laurent N, Thauvin-Robinet C, Rousseau T, Vereecke I, Sagot P, Delezoide AL, Coucke P, Mortier G. Faivre L, et al. Am J Med Genet A. 2004 Apr 30;126A(3):308-12. doi: 10.1002/ajmg.a.20597. Am J Med Genet A. 2004. PMID: 15054848

4

Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene.

Faivre L, Rousseau T, Laurent N, Gosset P, Sanlaville D, Thauvin-Robinet C, Cusin V, Lionnais S, Callier P, Khau Van Kien P, Huet F, Turleau C, Sagot P, Mugneret F. Faivre L, et al. Prenat Diagn. 2004 May;24(5):393-5. doi: 10.1002/pd.891. Prenat Diagn. 2004. PMID: 15164417

5

Should chromosome breakage studies be performed in patients with VACTERL association?

Faivre L, Portnoï MF, Pals G, Stoppa-Lyonnet D, Le Merrer M, Thauvin-Robinet C, Huet F, Mathew CG, Joenje H, Verloes A, Baumann C. Faivre L, et al. Am J Med Genet A. 2005 Aug 15;137(1):55-8. doi: 10.1002/ajmg.a.30853. Am J Med Genet A. 2005. PMID: 16015582 Review.

6

Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.

Faivre L, Williamson KA, Faber V, Laurent N, Grimaldi M, Thauvin-Robinet C, Durand C, Mugneret F, Gouyon JB, Bron A, Huet F, Hayward C, Heyningen Vv, Fitzpatrick DR. Faivre L, et al. Am J Med Genet A. 2006 Mar 15;140(6):636-9. doi: 10.1002/ajmg.a.31114. Am J Med Genet A. 2006. PMID: 16470798 No abstract available.

7

Another observation with VATER association and a complex IV respiratory chain deficiency.

Thauvin-Robinet C, Faivre L, Huet F, Journeau P, Glorion C, Rustin P, Rötig A, Munnich A, Cormier-Daire V. Thauvin-Robinet C, et al. Eur J Med Genet. 2006 Jan-Feb;49(1):71-7. doi: 10.1016/j.ejmg.2005.04.001. Eur J Med Genet. 2006. PMID: 16473312

8

Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate: a new syndrome?

Mosca AL, Laurent N, Guibaud L, Callier P, Thauvin-Robinet C, Mugneret F, Huet F, Grimaldi M, Gouyon JB, Sandre D, Faivre L. Mosca AL, et al. Eur J Med Genet. 2007 Jan-Feb;50(1):48-53. doi: 10.1016/j.ejmg.2006.08.002. Epub 2006 Sep 12. Eur J Med Genet. 2007. PMID: 17067864

9

Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.

Gay S, Dupuis D, Faivre L, Masurel-Paulet A, Labenne M, Colombani M, Soichot P, Huet F, Hainque B, Sternberg D, Fontaine B, Gouyon JB, Thauvin-Robinet C. Gay S, et al. Am J Med Genet A. 2008 Feb 1;146A(3):380-3. doi: 10.1002/ajmg.a.32141. Am J Med Genet A. 2008. PMID: 18203179

10

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.

Masurel-Paulet A, Callier P, Thauvin-Robinet C, Chouchane M, Mejean N, Marle N, Mosca AL, Ben Salem D, Giroud M, Guibaud L, Huet F, Mugneret F, Faivre L. Masurel-Paulet A, et al. Am J Med Genet A. 2009 Jul;149A(7):1504-10. doi: 10.1002/ajmg.a.32904. Am J Med Genet A. 2009. PMID: 19533778

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