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NEW ENGLAND JOURNAL OF MEDICINE (2013)
Impairment of BRCA1-Related DNA Double-Strand Break Repair Leads to Ovarian Aging in Mice and Humans
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SCIENCE TRANSLATIONAL MEDICINE (2013)
Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1
Alexandra M. Lopes et al.
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Genome-wide Association Study Identifies Candidate Genes for Male Fertility Traits in Humans
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AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome
Yongyong Shi et al.
NATURE GENETICS (2012)
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
Daniel G. MacArthur et al.
SCIENCE (2012)
National, Regional, and Global Trends in Infertility Prevalence Since 1990: A Systematic Analysis of 277 Health Surveys
Maya N. Mascarenhas et al.
PLOS MEDICINE (2012)
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3
Zi-Jiang Chen et al.
NATURE GENETICS (2011)
Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages
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REPRODUCTIVE BIOMEDICINE ONLINE (2011)
Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing
Callum J. Bell et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure
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CLINICAL ENDOCRINOLOGY (2010)
Genome-Wide Study of Single-Nucleotide Polymorphisms Associated With Azoospermia and Severe Oligozoospermia
Kenneth I. Aston et al.
JOURNAL OF ANDROLOGY (2009)
Transcription factor FIGLA is mutated in patients with Premature Ovarian Failure
Han Zhao et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Association of USP26 haplotypes in men in Taiwan, China with severe spermatogenic defect
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ASIAN JOURNAL OF ANDROLOGY (2008)
A subcortical maternal complex essential for preimplantation mouse embryogenesis
Lei Li et al.
DEVELOPMENTAL CELL (2008)
Expression Analysis of the NLRP Gene Family Suggests a Role in Human Preimplantation Development
Pu Zhang et al.
PLOS ONE (2008)
ZIP4H (TEX11) deficiency in the mouse impairs meiotic double strand break repair and the regulation of crossing over
Carrie A. Adelman et al.
PLOS GENETICS (2008)
Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation
G. Turner et al.
CLINICAL GENETICS (2008)
Implementation of preconceptional carrier screening for cystic fibrosis and haemoglobinopathies: A sociotechnical analysis
Roos Achterbergh et al.
HEALTH POLICY (2007)
NOBOX homeobox mutation causes premature ovarian failure
Yingying Qin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility
Klaus Dieterich et al.
NATURE GENETICS (2007)
Heritability of polycystic ovary syndrome in a Dutch twin-family study
J. M. Vink et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)
Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure
E Di Pasquale et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)
Missense mutations in the BMP15 gene are associated with ovarian failure
H Dixit et al.
HUMAN GENETICS (2006)
Mutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failure
H Dixit et al.
MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY (2005)
A genome-wide scalable SNP genotyping assay using microarray technology
KL Gunderson et al.
NATURE GENETICS (2005)
The burden of genetic disease on inpatient care in a children's hospital
SE McCandless et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Azoospermia in patients heterozygous for a mutation in SYCP3
T Miyamoto et al.
LANCET (2003)
Human gene mutation database (HGMD®):: 2003 update
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HUMAN MUTATION (2003)
Initial sequencing and analysis of the human genome
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NATURE (2001)
Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model
MM Kaback
EUROPEAN JOURNAL OF PEDIATRICS (2000)