Improved molecular diagnostics of idiopathic short stature and allied disorders: Quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 6, 2010, Pages 3010-3018

  D'Haene, Barbara ^a   Hellemans, Jan ^a   Craen, Margarita ^a   De Schepper, Jean ^a   Devriendt, Koen ^b   Fryns, Jean Pierre ^b   Keymolen, Kathelijn ^c   Debals, Eveline ^a   De Klein, Annelies ^d   De Jong, Elisabeth M ^d   Segers, Karin ^e   De Paepe, Anne ^a   Mortier, Geert ^a   Vandesompele, Jo ^a   De Baere, Elfride ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c FREE UNIVERSITY OF BRUSSELS   (Belgium)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF LIÈGE   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DYSCHONDROSTEOSIS; GENE; GENE DELETION; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; PAR1 GENE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SHORT STATURE; SHOX GENE; BODY HEIGHT; COHORT ANALYSIS; COMPUTER SIMULATION; COPY NUMBER VARIATION; GENE AMPLIFICATION; GENETICS; GROWTH DISORDER; MUTATION; PHYSIOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; X CHROMOSOME;

DNA; HOMEODOMAIN PROTEIN; PRIMER DNA; SHOX PROTEIN, HUMAN;

BODY HEIGHT; CHROMOSOMES, HUMAN, X; COHORT STUDIES; COMPUTER SIMULATION; DNA; DNA COPY NUMBER VARIATIONS; DNA PRIMERS; GENE AMPLIFICATION; GROWTH DISORDERS; HOMEODOMAIN PROTEINS; HUMANS; MUTATION; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 77954514549     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-2218     Document Type: Article

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