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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Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gs α deficiency in platelets

By Freson K.  

Human Molecular Genetics, Vol. 11, Iss. 22, 2002-10 ,pp. : 2741-2750

Oxford University Press

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Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB

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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

By Rosenbloom A.L.  

Human Molecular Genetics, Vol. 10, Iss. 12, 2001-06 ,pp. : 1231-1241

Oxford University Press

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Knockdown of zebrafish Lgi1a results in abnormal development, brain defects and a seizure-like behavioral phenotype

By Teng Yong   Xie Xiayang   Walker Steven   Rempala Grzegorz   Kozlowski David J.   Mumm Jeff S.   Cowell John K.  

Human Molecular Genetics, Vol. 19, Iss. 22, 2010-11 ,pp. : 4409-4420

Oxford University Press

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