Calvas, Patrick

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M.-P., Raynaud, M., Ronce, N., Lemonnier, E., Calvas, P., et al. (2004) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 768

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

Hanein, S., Perrault, I., Gerber, S., Tanguy, G., Barbet, F., Ducroq, D., Calvas, P., Dollfus, H., Hamel, C., Lopponen, T., et al. (2004) · Human Mutation

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 350

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.

Vincent, M. C., Biancalana, V., Ginisty, D., Mandel, J. L., & Calvas, P. (2001) · European Journal of Human Genetics

dental development and anomaliesGenetic and rare skin diseases.

Cited by 105

Mutations inEDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia

Chassaing, N., Bourthoumieu, S., Cossee, M., Calvas, P., & Vincent, M.-C. (2006) · Human Mutation

dental development and anomaliesGenetic and rare skin diseases.

Cited by 103

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia: Expanding the Clinical Spectrum of STRA6 Mutations

Chassaing, N., Golzio, C., Odent, S., Lequeux, L., Vigouroux, A., Martinovic-Bouriel, J., Tiziano, F. D., Masini, L., Piro, F., Maragliano, G., et al. (2009) · Human Mutation

Ocular Disorders and TreatmentsRetinal Development and Disorders

Cited by 100