Muriel Houang

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

Christine Gicquel, Sylvie Rossignol, Sylvie Cabrol et al. · Nature Genetics · 2005 · 503 citations

Chromosome 11P15, Genetic Disorder, Genetics +4

11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations

Irène Netchine, Sylvie Rossignol, Marie‐Noëlle Dufourg et al. · The Journal of Clinical Endocrinology & Metabolism · 2007 · 312 citations · Full text

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

Sébastien Albert, Hélène Blons, Laurence Jonard et al. · European Journal of Human Genetics · 2006 · 240 citations · Full text

Developmental Biology, Medicine, Genetics +11

ULTRASOUND DETECTION OF BRAIN DAMAGE IN PRETERM INFANTS

KarenE. Pape, G. Cusick, R. J. Blackwell et al. · The Lancet · 1979 · 210 citations

Neonatology, Pediatrics, Brain Injury +6

Four families with loss of function mutations of the thyrotropin receptor.

Nicolás de Roux, Micheline Misrahi, Raja Brauner et al. · The Journal of Clinical Endocrinology & Metabolism · 1996 · 157 citations · Full text

Genetics, Immunology, Function Mutations +20