Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations

Human Reproduction

Volumn 31, Issue 12, 2016, Pages 2872-2880

  Amiri Yekta, Amir ^a,b   Coutton, Charles ^b,c   Kherraf, Zine Eddine ^b,c   Karaouzène, Thomas ^b,c   LeTanno, Pauline ^b,c   Sanati, Mohammad Hossein ^a,d   Sabbaghian, Marjan ^a   Almadani, Navid ^a   Gilani, Mohammad Ali Sadighi ^a   Hosseini, Seyedeh Hanieh ^e   Bahrami, Salahadin ^a   Daneshipour, Abbas ^a   Bini, Maurizio ^e   Arnoult, Christophe ^b   Colombo, Roberto ^e,f   Gourabi, Hamid ^a   Ray, Pierre F ^b,c  

^a ROYAN INSTITUTE FOR REPRODUCTIVE BIOMEDICINE   (Iran)

^b INSTITUTE FOR ADVANCED BIOSCIENCES   (France)

^c GRENOBLE UNIVERSITY HOSPITAL   (France)

^d NATIONAL INSTITUTE OF GENETIC ENGINEERING AND BIOTECHNOLOGY   (Iran)

^e Niguarda C Granda Hospital   (Italy)

^f CATHOLIC UNIVERSITY   (Italy)

Author keywords

DNAH1; Exome sequencing; Flagellum; Gene mutations; Genetic diagnosis; male infertility; MMAF; Teratozoospermia

Indexed keywords

AXONEMAL DYNEIN; DYNEIN AXONEMAL HEAVY CHAIN 1; RNA; UNCLASSIFIED DRUG; DNAH1 PROTEIN, HUMAN; DYNEIN ADENOSINE TRIPHOSPHATASE;

ARTICLE; ASTHENOSPERMIA; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE MUTATION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; IMMUNOCHEMISTRY; IRAN; ITALY; MALE; PHENOTYPE; RETROSPECTIVE STUDY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SANGER SEQUENCING; SIBLING; SPERM FLAGELLUM MULTIPLE MORPHOLOGICAL ABNORMALITY; SPERMATOZOON TAIL; WHOLE EXOME SEQUENCING; ABNORMALITIES; CELL SHAPE; CYTOLOGY; DNA SEQUENCE; EXOME; GENETICS; MALE INFERTILITY; MUTATION; PEDIGREE; SPERMATOZOON;

CELL SHAPE; DYNEINS; EXOME; HUMANS; INFERTILITY, MALE; MALE; MUTATION; PEDIGREE; RETROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA; SPERM TAIL; SPERMATOZOA; WHOLE EXOME SEQUENCING;

EID: 85014459227     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/dew262     Document Type: Article

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