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

Oxford University Press

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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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American Journal Of Medical Genetics Part A, Vol. 176, Iss. 2, 2018-02 ,pp. : 283-289

John Wiley & Sons Inc

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Mechanisms causing imprinting defects in familial BeckwithWiedemann syndrome with Wilms' tumour

By Sparago Angela   Russo Silvia   Cerrato Flavia   Ferraiuolo Serena   Castorina Pierangela   Selicorni Angelo   Schwienbacher Christine   Negrini Massimo   Ferrero Giovanni Battista   Silengo Margherita Cirillo   Anichini Cecilia   Larizza Lidia   Riccio Andrea  

Human Molecular Genetics, Vol. 16, Iss. 3, 2007-02 ,pp. : 254-264

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