E. Cottereau

发表

Mutation update for the GPC3 gene involved in Simpson‐Golabi‐Behmel syndrome and review of the literature

A. Toutain, E. Colin, S. Nampoothiri, 2018, Human mutation.

Duplication of exon 2 of the GPC3 gene in a case of Simpson‐Golabi‐Behmel syndrome

A. Toutain, M. Raynaud, A. David, 2014, American journal of medical genetics. Part A.

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

A. Toutain, N. Philip, A. Verloes, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Identification of PITX3 mutations in individuals with various ocular developmental defects

P. Calvas, N. Chassaing, M. Cortón, 2018, Ophthalmic genetics.

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

L. Bouneau, P. Calvas, N. Chassaing, 2022, Clinical genetics.

Overgrowth syndromes — clinical and molecular aspects and tumour risk

A. Toutain, V. Cormier-Daire, I. Netchine, 2019, Nature Reviews Endocrinology.

High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency

K. Wimmer, J. Tinat, L. Brugières, 2022, Journal of Medical Genetics.

[Environmental and genetic risk factors for endometrial carcinoma].

D. Stoppa-Lyonnet, B. Buecher, M. Gauthier‐Villars, 2015, Bulletin du cancer.

CUGC for Simpson-Golabi-Behmel syndrome (SGBS)

A. Toutain, A. Rauch, A. Baumer, 2019, European Journal of Human Genetics.

Mutation update for the GPC3 gene involved in Simpson–Golabi–Behmel syndrome and review of the literature

A. Toutain, E. Colin, S. Nampoothiri, 2018, Human mutation.

Are all Xq26.2 duplications overlapping GPC3 on array‐CGH a cause of Simpson‐Golabi‐Behmel syndrome? When do we need transcript analysis?

A. Toutain, C. Baumann, C. Dupont, 2018, Clinical genetics.

[Environmental and genetic risk factors for endometrial carcinoma].

D. Stoppa-Lyonnet, B. Buecher, M. Gauthier‐Villars, 2015, Bulletin du cancer.