Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b

Genetic Testing and Molecular Biomarkers

Volumn 14, Issue 1, 2010, Pages 135-139

  Alsum, Zobaida ^a   Safieh, Leen Abu ^b   Nygren, Anders O H ^c   Al Hamed, Mohammed A ^b   Alkuraya, Fowzan S ^a,b,d  

^a KING SAUD UNIVERSITY   (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c MRC HOLLAND   (Netherlands)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CALCIUM CARBONATE; PARATHYROID HORMONE; PHOSPHATE;

ADOLESCENT; ARTICLE; BODY MASS; BONE DENSITY; BONE PAIN; CALCIUM BLOOD LEVEL; CASE REPORT; CENTROMERE; CLAVICLE; DIAGNOSTIC PROCEDURE; DISEASE COURSE; DNA METHYLATION; FEMUR; FEMUR FRACTURE; GENE AMPLIFICATION; GENE DELETION; GENE LOCUS; GENETIC ASSOCIATION; HIGH THROUGHPUT SCREENING; HUMAN; HYPOPARATHYROIDISM; MALE; OSTEOPENIA; PHOSPHATE BLOOD LEVEL; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PSEUDOHYPOPARATHYROIDISM; PSEUDOHYPOPARATHYROIDISM TYPE 1B; RECURRENT DISEASE; SCOLIOSIS; SOUTHERN BLOTTING; SWELLING; VENTRAL ROOT; VITAMIN BLOOD LEVEL;

ADOLESCENT; BONE DISEASES, METABOLIC; CHROMOSOMES, HUMAN, PAIR 20; DNA METHYLATION; FEMALE; GENOMIC IMPRINTING; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HAPLOTYPES; HUMANS; LIGASE CHAIN REACTION; MALE; MICROSATELLITE REPEATS; MOLECULAR PROBE TECHNIQUES; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PEDIGREE; PSEUDOHYPOPARATHYROIDISM; SYNTAXIN 16;

EID: 76949101194     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0092     Document Type: Article

References (12)

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