T. Martin‐Denavit

发表

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

S. Puig, L. Thomas, S. Richard, 2011, Nature.

Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants

L. Thomas, N. Hayward, M. Tucker, 2013, Journal of Medical Genetics.

TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7.

V. Lazar, S. Romana, M. Till, 2008, European journal of medical genetics.

Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?

J. Saurin, S. Olschwang, S. Giraud, 2001, Clinical genetics.

Somatic MMR Gene Mutations as a Cause for MSI‐H Sebaceous Neoplasms in Muir–Torre Syndrome‐Like Patients

J. Saurin, C. Audoynaud, Qing Wang, 2015, Human mutation.

Influence of Age and Sex and Day-to- Day and Within-Day Biological Variation on Plasma Concentrations of Fatty Acid-binding

G. Putet, F. Bienvenu, J. Bienvenu, 1999 .

Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort

C. Lasset, A. Calender, M. Léoné, 2023, Cancers.

Identification and Characterization of an Exonic Duplication in PALB2 in a Man with Synchronous Breast and Prostate Cancer

Zine-Eddine Kherraf, A. Calender, M. Léoné, 2022, International journal of molecular sciences.

Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

S. Puig, L. Thomas, S. Richard, 2015, Nature.

Ectodermal abnormalities associated with methimazole intrauterine exposure.

D. Raudrant, P. Edery, T. Martin-Denavit, 2000, American journal of medical genetics.

Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3)

B. Devauchelle, F. Vialard, M. Portnoï, 2004, American journal of medical genetics. Part A.

First prenatal diagnosis of partial trisomy 10 and partial monosomy 15 derived from a maternal translocation (10;15)(q11;q13)

M. Till, H. Plauchu, D. Boggio, 2002, Prenatal diagnosis.

The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma

J. Limacher, M. Barrois, A. Chompret, 2008, British Journal of Cancer.