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Human Molecular Genetics, Vol. 14, Iss. 1, 2005-01 ,pp. : 95-102

Oxford University Press

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Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus

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A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo‐pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene

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Molecular Genetics & Genomic Medicine, Vol. 3, Iss. 2, 2015-03 ,pp. : 111-120

John Wiley & Sons Inc

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Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A

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GNAS transcripts in skeletal progenitors: evidence for random asymmetric allelic expression of Gs

By Michienzi Stefano   Cherman Natasha   Holmbeck Kenn   Funari Alessia   Collins Michael T.   Bianco Paolo   Robey Pamela Gehron   Riminucci Mara  

Human Molecular Genetics, Vol. 16, Iss. 16, 2007-08 ,pp. : 1921-1930

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