Thauvin-Robinet C - Search Results

1

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.

Garde A, Guibaud L, Goldenberg A, Petit F, Dard R, Roume J, Mazereeuw-Hautier J, Chassaing N, Lacombe D, Morice-Picard F, Toutain A, Arpin S, Boccara O, Touraine R, Blanchet P, Coubes C, Willems M, Pinson L, Van Kien PK, Chiaverini C, Giuliano F, Alessandri JL, Mathieu-Dramard M, Morin G, Bursztejn AC, Mignot C, Doummar D, Di Rocco F, Cornaton J, Nicolas C, Gautier E, Luu M, Bardou M, Sorlin A, Philippe C, Edery P, Rossi M, Carmignac V, Thauvin-Robinet C, Vabres P, Faivre L. Garde A, et al. Clin Genet. 2021 May;99(5):650-661. doi: 10.1111/cge.13918. Epub 2021 Jan 20. Clin Genet. 2021. PMID: 33415748

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

Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq.

Thauvin-Robinet C, Faivre L, Cusin V, Khau Van Kien P, Callier P, Parker KL, Fellous M, Borgnon J, Gounot E, Huet F, Sapin E, Mugneret F. Thauvin-Robinet C, et al. Am J Med Genet A. 2004 Apr 30;126A(3):303-7. doi: 10.1002/ajmg.a.20596. Am J Med Genet A. 2004. PMID: 15054847 Review.

4

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

5

Prenatal diagnosis of Juberg-Hayward syndrome.

Couvreur-Lionnais S, Rousseau T, Laurent N, Thauvin-Robinet C, Senet-Lacombe E, Delezoïde AL, Mugneret F, Durand C, Faivre L, Sagot P. Couvreur-Lionnais S, et al. Prenat Diagn. 2005 Feb;25(2):172-5. doi: 10.1002/pd.943. Prenat Diagn. 2005. PMID: 15712337

6

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.

7

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.

8

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

9

A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome.

Colombani M, Chouchane M, Pitelet G, Morales L, Callier P, Pinard JP, Lion-François L, Thauvin-Robinet C, Mugneret F, Huet F, Guibaud L, Faivre L. Colombani M, et al. Eur J Med Genet. 2006 Nov-Dec;49(6):466-71. doi: 10.1016/j.ejmg.2006.05.001. Epub 2006 Jun 12. Eur J Med Genet. 2006. PMID: 16807158

10

A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders.

Colombani M, Laurent N, Le Merrer M, Delezoide AL, Thauvin-Robinet C, Huet F, Sagot P, Couvreur S, Rousseau T, Robertson SP, Faivre L. Colombani M, et al. Prenat Diagn. 2006 Dec;26(12):1151-5. doi: 10.1002/pd.1576. Prenat Diagn. 2006. PMID: 17009344

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