A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes

Genetics in Medicine

Volumn 19, Issue 9, 2017, Pages 998-1006

  Gershoni, Moran ^a   Hauser, Ron ^b   Yogev, Leah ^b   Lehavi, Ofer ^b   Azem, Foad ^b   Yavetz, Haim ^b   Pietrokovski, Shmuel ^a   Kleiman, Sandra E ^b  

^a WEIZMANN INSTITUTE OF SCIENCE   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

azoospermia; crossover; meiosis; rapid prophase movements; whole exome and whole genome sequencing

Indexed keywords

ARTICLE; AZOOSPERMIA; BIOINFORMATICS; COHORT ANALYSIS; CONTROLLED STUDY; DAUGHTER CELL; DNAH6 GENE; FERTILE PERIOD; GENE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; MEIOB GENE; POPULATION RESEARCH; SIBLING; TESTIS DEVELOPMENT; TEX14 GENE; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING; AMINO ACID SEQUENCE; BIOPSY; CASE CONTROL STUDY; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GENOTYPE; METABOLISM; MUTATION; PEDIGREE; SPERMATOZOON;

BIOLOGICAL MARKER; DNA BINDING PROTEIN; DYNEIN ADENOSINE TRIPHOSPHATASE; MEIOB PROTEIN, HUMAN;

AMINO ACID SEQUENCE; AZOOSPERMIA; BIOMARKERS; BIOPSY; CASE-CONTROL STUDIES; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; DYNEINS; FAMILY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MUTATION; PEDIGREE; SPERMATOZOA;

EID: 85028947511     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.225     Document Type: Article

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