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Novel Loss-of-Function Variants in

Authors : Julia, Doll; Susanne, Kolb; Linda, Schnapp

Subjects: Adult; Male; DFNB32

Source: International Journal of Molecular Sciences

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A genome-wide DNA methylation signature for SETD1B-related syndrome

Authors : Saskia M. Maas; Irene Madrigal; David A. Sweetser ...

Subjects: Male; Jumonji Domain-Containing Histone Demethylases; INTELLECTUAL DISABILITY

Source: CLINICAL EPIGENETICSr-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de DéuinstnameClinical epigenetics, 11(1). Springer VerlagClinical

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Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families

Authors : Yiping Shen; Lawrence C. Layman; Özgül M. Alper

Subjects: 0301 basic medicine; Proband; Adult

Source: Fertility and sterility. 108(1)

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Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies

Authors : Lisa G. Shaffer; Douglas M. Ruderfer; Fei Lan

Subjects: Adult; Male; Adolescent

Source: American Journal of Human Genetics, 91, 1, pp. 56-72The American Journal of Human GeneticsAmerican Journal of Human Genetics, 91, 56-72

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An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability

Authors : Kang Han Lee; Il-Keun Kong; Hyung Goo Kim

Subjects: 0301 basic medicine; Adult; Male

Source: Human genetics. 135(7)

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The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

Authors : Elizabeth M. Cappello; Samuel D. Quaynor; Lynn P. Chorich

Subjects: Adult; Male; medicine.medical_specialty

Source: Fertility and Sterility. 96:1424-1430.e6

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Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

Authors : Robert H. Podolsky; Richard J. Sherins; Jae Ho Lee

Subjects: Adult; Male; medicine.medical_specialty

Source: Fertility and Sterility. 95:1613-1620.e7

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Monoclonality and Abnormal Parathyroid Hormone Genes in Parathyroid Adenomas

Authors : Hyung Goo Kim; Randall D. Gaz; Andrew Arnold

Subjects: Adenoma; Adult; Hypoxanthine Phosphoribosyltransferase

Source: New England Journal of Medicine. 318:658-662

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