Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure

Journal of Medical Genetics

Volumn 52, Issue 6, 2015, Pages 391-399

  Tenenbaum Rakover, Yardena ^a,b   Weinberg Shukron, Ariella ^c,d   Renbaum, Paul ^c   Lobel, Orit ^c,d   Eideh, Hasan ^e   Gulsuner, Suleyman ^f   Dahary, Dvir ^g   Abu Rayyan, Amal ^h   Kanaan, Moien ^h   Levy Lahad, Ephrat ^c,d   Bercovich, Dani ⁱ   Zangen, David ^j  

^a HAEMEK MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c SHAARE ZEDEK MEDICAL CENTER   (Israel)

^d HEBREW UNIVERSITY   (Israel)

^e Palestinian Medical Complex   (United States)

^f UNIVERSITY OF WASHINGTON   (United States)

^g Toldot Genetics Ltd   (Israel)

^h BETHLEHEM UNIVERSITY   (Palestine)

ⁱ TEL HAI COLLEGE   (Israel)

^j HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MESSENGER RNA; MINICHROMOSOME MAINTENANCE PROTEIN 8; MITOMYCIN; COMPLEMENTARY DNA; RNA SPLICING;

ADOLESCENT; ADULT; ARTICLE; AZOOSPERMIA; CHROMOSOME BREAKAGE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA MICROARRAY; EXOME; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE SEQUENCE; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOGONADISM; MALE; PRIMARY AMENORRHEA; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RANDOMIZED CONTROLLED TRIAL; SMALL TESTIS; TESTIS DISEASE; TESTIS SIZE; WILD TYPE; ALLELE; CASE REPORT; CHROMOSOMAL INSTABILITY; CHROMOSOMAL MAPPING; CONSANGUINITY; COPY NUMBER VARIATION; GENE EXPRESSION; GENETIC ASSOCIATION STUDY; GENETICS; GENOME-WIDE ASSOCIATION STUDY; GONADAL DISORDERS; HIGH THROUGHPUT SEQUENCING; METABOLISM; MUTATION; NEWBORN; OVARY; PEDIGREE; RNA SPLICING; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM;

MUS;

ADOLESCENT; ALLELES; CHROMOSOMAL INSTABILITY; CHROMOSOME BREAKAGE; CHROMOSOME MAPPING; CONSANGUINITY; DNA COPY NUMBER VARIATIONS; DNA, COMPLEMENTARY; EXOME; FEMALE; GENE EXPRESSION; GENETIC ASSOCIATION STUDIES; GENOME-WIDE ASSOCIATION STUDY; GONADAL DISORDERS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 8; MUTATION; OVARY; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICE SITES; RNA, MESSENGER; SIBLINGS;

EID: 84930674380     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102921     Document Type: Article

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