Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia

Fertility and Sterility

Volumn 104, Issue 2, 2015, Pages 286-291

  Ramasamy, Ranjith ^a   Bakircioʇlu, M Emre ^b   Cengiz, Cenk ^a   Karaca, Ender ^a   Scovell, Jason ^a   Jhangiani, Shalini N ^a   Akdemir, Zeynep C ^a   Bainbridge, Matthew ^c   Yu, Yao ^d   Huff, Chad ^d   Gibbs, Richard A ^a   Lupski, James R ^a   Lamb, Dolores J ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b PRIVATE PRACTICE   (Turkey)

^c Codified Genomics ^*  (United States)

^d UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

Author keywords

Circadian rhythm; consanguineous; genome; male infertility; spermatogenesis

Indexed keywords

FOLLITROPIN; GENOMIC DNA; TESTOSTERONE; BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; NERVE PROTEIN; NPAS2 PROTEIN, HUMAN;

ADULT; ARTICLE; AZOOSPERMIA; CASE REPORT; CHROMOSOME MICRODISSECTION; CIRCADIAN RHYTHM; CONSANGUINITY; CONTROLLED STUDY; EXOME; EXON; FOLLITROPIN BLOOD LEVEL; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEGREGATION; GENETIC VARIABILITY; GENOME; HERITABILITY; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; KARYOTYPE 46,XY; MALE; MOLECULAR DIAGNOSIS; NEURONAL PAS 2 DOMAIN GENE; OUTCOME ASSESSMENT; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPERMATOGENESIS; TESTIS SIZE; Y CHROMOSOME; GENETICS; HOMOZYGOTE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE;

ADULT; AZOOSPERMIA; BASE SEQUENCE; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; EXOME; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE;

EID: 84939582916     PISSN: 00150282     EISSN: 15565653     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2015.04.001     Document Type: Article

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