Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Annemieke J.M.H. Verkerk, Maura Pieretti, James S. Sutcliffe et al. · Cell · 1991 · 3.5K citations

Life Sciences, Genetics, Molecular Genetics +12

Incidence of Premature Ovarian Failure

Carolyn B. Coulam, Steven C. Adamson, John F. Annegers · Obstetrical & Gynecological Survey · 1987 · 1K citations

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Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

Kristiina Aittomäki, JoséLuis Dieguez Lucena, Pirjo Pakarinen et al. · Cell · 1995 · 980 citations · Full text

Medicine, Endocrinology, Genetics +14

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Hilde Van Esch, Marijke Bauters, Jaakko Ignatius et al. · The American Journal of Human Genetics · 2005 · 627 citations · Full text

Life Sciences, Neurology, Neuroscience +14

Hypergonadotropic Ovarian Failure Associated with an Inherited Mutation of Human Bone Morphogenetic Protein-15 (BMP15) Gene

Elisa Di Pasquale, Paolo Beck‐Peccoz, Luca Persani · The American Journal of Human Genetics · 2004 · 508 citations · Full text

Medicine, Endocrinology, Genetics +15