G. Bertrand

发表

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

P. Wicart, J. Argente, P. Bougnères, 2012, The Journal of clinical endocrinology and metabolism.

Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma

H. Cavé, C. Lebbé, N. Basset-Seguin, 2004, British Journal of Cancer.

Evidence for different expression profiles for c-Met, EGFR, PTEN and the mTOR pathway in low and high grade endometrial carcinomas in a cohort of consecutive women. Occurrence of PIK3CA and K-Ras mutations and microsatellite instability.

C. Genestie, E. Raymond, C. Kannengiesser, 2014, Histology and histopathology.

PTHR1 mutations associated with Ollier disease result in receptor loss of function.

M. Vikkula, B. Gérard, B. Grandchamp, 2008, Human molecular genetics.

A French CDK4-positive melanoma family with a co-inherited EDNRB mutation.

C. Lebbé, N. Basset-Seguin, P. Wolkenstein, 2007, Journal of dermatological science.

Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism.

A. Linglart, S. Hiéronimus, A. Lienhardt, 2014, The Journal of clinical endocrinology and metabolism.

Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure

C. Lebbé, N. Basset-Seguin, P. Verpillat, 2004, Journal of Medical Genetics.

Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.

B. Grandchamp, H. Jüppner, G. Weryha, 2008, The Journal of clinical endocrinology and metabolism.

Germline‐sequence variants S836S and L769L in the RE arranged during Transfection (RET) proto‐oncogene are not associated with predisposition to sporadic medullary carcinoma in the French population

J. Moisan, F. Savagner, S. Bézieau, 2004, Clinical genetics.

Association study of the g.8818A>G polymorphism of the human agouti gene with melanoma risk and pigmentary characteristics in a French population.

C. Lebbé, N. Basset-Seguin, B. Gérard, 2005, Journal of dermatological science.

Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma

F. Clerget-Darpoux, C. Lebbé, N. Basset-Seguin, 2005, European Journal of Human Genetics.

Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

A. Ronan, Stéphanie Maupetit-Méhouas, C. Reynès, 2010, Journal of Medical Genetics.

Absence of microsatellite instability in transitional cell carcinoma of the bladder.

M. Toublanc, V. Ravery, B. Grandchamp, 2000, Urology.

Association between endothelin receptor B nonsynonymous variants and melanoma risk.

C. Lebbé, N. Basset-Seguin, B. Gérard, 2005, Journal of the National Cancer Institute.

EDNRB gene variants and melanoma risk in two southern European populations

F. Cambien, K. Peris, C. Lebbé, 2011, Clinical and experimental dermatology.

PTHR1 mutations associated with Ollier disease result in receptor loss of function.

M. Vikkula, B. Gérard, B. Grandchamp, 2008, Human molecular genetics.

Association between endothelin receptor B nonsynonymous variants and melanoma risk.

C. Lebbé, N. Basset-Seguin, B. Gérard, 2005, Journal of the National Cancer Institute.