Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome

Molecular and Cellular Endocrinology

Volumn 437, Issue , 2016, Pages 86-96

  Quaynor, Samuel D ^a,b   Bosley, Maggie E ^a   Duckworth, Christina G ^a   Porter, Kelsey R ^a   Kim, Soo Hyun ^c   Kim, Hyung Goo ^a   Chorich, Lynn P ^a   Sullivan, Megan E ^a   Choi, Jeong Hyeon ^a   Cameron, Richard S ^a   Layman, Lawrence C ^a  

^a MEDICAL COLLEGE OF GEORGIA   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

^c ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Delayed puberty; GnRH deficiency; Hypogonadotropic hypogonadism; Kallmann syndrome; Next generation DNA sequencing

Indexed keywords

CHEMOKINE RECEPTOR CXCR4; CHOLECYSTOKININ B RECEPTOR; CRYPTOCHROME 1; FIBROBLAST GROWTH FACTOR RECEPTOR 1; GENOMIC DNA; JAGGED1; NEURONAL NITRIC OXIDE SYNTHASE; NOTCH1 RECEPTOR; TRANSCRIPTION FACTOR GLI3;

ALTERNATIVE RNA SPLICING; AMN1 GENE; ARTICLE; CCKBR GENE; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; CONTROLLED STUDY; CRY1 GENE; CXCR4 GENE; DNA SEQUENCE; FEMALE; FGF13 GENE; FGFR1 GENE; FRAMESHIFT MUTATION; GAP43 GENE; GENE; GENE IDENTIFICATION; GENETIC VARIABILITY; GLI3 GENE; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; HYPOPHYSIS; HYPOTHALAMUS; JAG1 GENE; KALLMANN SYNDROME; MALE; MASTL GENE; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; NORMOSMIC HYPOGONADOTROPIC HYPOGONADISM; NOS1 GENE; NOTCH1 GENE; NRP2 GENE; OLFACTORY BULB; PALM2 GENE; PATHOGENESIS; PDE3A GENE; PLEKHA5 GENE; PRIORITY JOURNAL; RD3 GENE; SIGNAL TRANSDUCTION; TRAPPC9 GENE; TSPAN11 GENE; GENETIC ASSOCIATION STUDY; GENETICS; HIGH THROUGHPUT SEQUENCING; HYPOGONADISM; MUTATION; PEDIGREE; PHENOTYPE; PROCEDURES;

FEMALE; GENETIC ASSOCIATION STUDIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; HYPOGONADISM; KALLMANN SYNDROME; MALE; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84989860392     PISSN: 03037207     EISSN: 18728057     Source Type: Journal    
DOI: 10.1016/j.mce.2016.08.007     Document Type: Article

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