Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B)

Bone

Volumn 79, Issue , 2015, Pages 15-20

  Takatani, Rieko ^a,b   Minagawa, Masanori ^b,c   Molinaro, Angelo ^a,d   Reyes, Monica ^a   Kinoshita, Kaori ^e   Takatani, Tomozumi ^b   Kazukawa, Itsuro ^b,c   Nagatsuma, Misako ^f   Kashimada, Kenichi ^f   Sato, Kenichi ^g   Matsushita, Kazuyuki ^b   Nomura, Fumio ^b   Shimojo, Naoki ^b   Jüppner, Harald ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b CHIBA UNIVERSITY   (Japan)

^c CHIBA CHILDREN'S HOSPITAL   (Japan)

^d UNIVERSITY OF PISA   (Italy)

^e KIMITSU CHUO HOSPITAL   (Japan)

^f TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^g INTERNATIONAL UNIVERSITY OF HEALTH AND WELFARE   (Japan)

Author keywords

Epigenetic; GNAS; Parathyroid hormone; Pseudohypoparathyroidism; Uniparental disomy

Indexed keywords

CALCIUM; PARATHYROID HORMONE; PHOSPHATE; THYROTROPIN; CHROMOGRANIN; GNAS PROTEIN, HUMAN; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ADOLESCENT; ADULT; ALBRIGHT SYNDROME; ARTICLE; CAUCASIAN; CHILD; CHROMOSOME 20Q; CLINICAL ARTICLE; EXON; FEMALE; GENE; GENE LOCUS; GNAS GENE; HOMOZYGOSITY; HUMAN; HYPERPHOSPHATEMIA; HYPOCALCEMIA; JAPANESE (PEOPLE); MALE; MICROSATELLITE MARKER; ONSET AGE; PRESCHOOL CHILD; PSEUDOHYPOPARATHYROIDISM; PSEUDOHYPOPARATHYROIDISM TYPE 1B; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY; ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOME 20; GENETICS; POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BLOTTING, SOUTHERN; CHILD; CHILD, PRESCHOOL; CHROMOGRANINS; CHROMOSOMES, HUMAN, PAIR 20; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MALE; POLYMERASE CHAIN REACTION; PSEUDOHYPOPARATHYROIDISM; UNIPARENTAL DISOMY;

EID: 84930622834     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2015.05.011     Document Type: Article

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