Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 3, 2014, Pages

  Elli, Francesca M ^a   De Sanctis, Luisa ^b   Bollati, Valentina ^a   Tarantini, Letizia ^a   Filopanti, Marcello ^a   Barbieri, Anna Maria ^a   Peverelli, Erika ^a   Beck Peccoz, Paolo ^a   Spada, Anna ^a   Mantovani, Giovanna ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; CALCIUM; GENOMIC DNA; GONADORELIN; GONADOTROPIN; GUANINE NUCLEOTIDE BINDING PROTEIN; PARATHYROID HORMONE; PHOSPHORUS; THYROTROPIN;

ADULT; ALBRIGHT SYNDROME; ARTICLE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; EPIGENETICS; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HUMAN; MAJOR CLINICAL STUDY; MALE; METHYLATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; PYROSEQUENCING; QUANTITATIVE ANALYSIS;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA METHYLATION; EPIGENESIS, GENETIC; FEMALE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PSEUDOHYPOPARATHYROIDISM; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84895798971     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-3086     Document Type: Article

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