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New NOBOX Mutations Identified in a Large Cohort of Women With Primary Ovarian Insufficiency Decrease KIT-L Expression
Justine Bouilly et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)
Five New Cases of 46, XX Aromatase Deficiency: Clinical Follow-Up From Birth to Puberty, a Novel Mutation, and a Founder Effect
Roxana Marino et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis
Ariella Weinberg-Shukron et al.
JOURNAL OF CLINICAL INVESTIGATION (2015)
Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure
Yardena Tenenbaum-Rakover et al.
JOURNAL OF MEDICAL GENETICS (2015)
The Mutational Spectrum of WT1 in Male Infertility
Catarina M. Seabra et al.
JOURNAL OF UROLOGY (2015)
X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men
Alexander N. Yatsenko et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Spata6 is required for normal assembly of the sperm connecting piece and tight head-tail conjunction
Shuiqiao Yuan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability
Saleh AlAsiri et al.
JOURNAL OF CLINICAL INVESTIGATION (2015)
Dynamics of Sun5 Localization during Spermatogenesis in Wild Type and Dpy19l2 Knock-Out Mice Indicates That Sun5 Is Not Involved in Acrosome Attachment to the Nuclear Envelope
Sandra Yassine et al.
PLOS ONE (2015)
TLE6 mutation causes the earliest known human embryonic lethality
Anas M. Alazami et al.
GENOME BIOLOGY (2015)
An ENU-induced mutation in the mouse Rnf212 gene is associated with male meiotic failure and infertility
Yasuhiro Fujiwara et al.
REPRODUCTION (2015)
MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability
Michelle A. Wood-Trageser et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella
Mariem Ben Khelifa et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Fertility after high-dose testosterone and intracytoplasmic sperm injection in a patient with androgen insensitivity syndrome with a previously unreported androgen receptor mutation
K. M. Tordjman et al.
ANDROLOGIA (2014)
Two novel mutations in COII and tRNAHis mitochondrial genes in asthenozoospermic infertiles men
Baklouti-Gargouri Siwar et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2014)
Atg7 is required for acrosome biogenesis during spermatogenesis in mice
Hongna Wang et al.
CELL RESEARCH (2014)
STAG3-mediated stabilization of REC8 cohesin complexes promotes chromosome synapsis during meiosis
Tomoyuki Fukuda et al.
EMBO JOURNAL (2014)
The effect of 5α-reductase-2 deficiency on human fertility
Hey-Joo Kang et al.
FERTILITY AND STERILITY (2014)
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects
Alexandros Onoufriadis et al.
HUMAN MOLECULAR GENETICS (2014)
Identification of a novel m.9588G>A missense mutation in the mitochondrial COIII gene in asthenozoospermic Tunisian infertile men
Siwar Baklouti-Gargouri et al.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2014)
Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia
Ozgecan Ayhan et al.
JOURNAL OF MEDICAL GENETICS (2014)
Juno is the egg Izumo receptor and is essential for mammalian fertilization
Enrica Bianchi et al.
NATURE (2014)
Mutations in HFM1 in Recessive Primary Ovarian Insufficiency
Jian Wang et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Mutant Cohesin in Premature Ovarian Failure
Sandrine Caburet et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Mutant ZP1 in Familial Infertility
Hua-Lin Huang et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Lack of testicular seipin causes teratozoospermia syndrome in men
Min Jiang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
A heterozygous mutation of GALNTL5 affects male infertility with impairment of sperm motility
Nobuyoshi Takasaki et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
The subcortical maternal complex controls symmetric division of mouse zygotes by regulating F-actin dynamics
Xing-Jiang Yu et al.
NATURE COMMUNICATIONS (2014)
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism
Hichem Miraoui et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia
Christina Austin-Tse et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects
Esther Kott et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
Alexandros Onoufriadis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Primary Ciliary Dyskinesia Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease
Michael R. Knowles et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2013)
t-SNARE Syntaxin2 (STX2) Is Implicated in Intracellular Transport of Sulfoglycolipids During Meiotic Prophase in Mouse Spermatogenesis
Yasuhiro Fujiwara et al.
BIOLOGY OF REPRODUCTION (2013)
Galnt3 deficiency disrupts acrosome formation and leads to oligoasthenoteratozoospermia
Toshihiro Miyazaki et al.
HISTOCHEMISTRY AND CELL BIOLOGY (2013)
A dominant-negative mutation of HSF2 associated with idiopathic azoospermia
Lisha Mou et al.
HUMAN GENETICS (2013)
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
Christel Thauvin-Robinet et al.
JOURNAL OF MEDICAL GENETICS (2013)
Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia
Kamila Kusz-Zamelczyk et al.
JOURNAL OF MEDICAL GENETICS (2013)
DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations
Fuxi Zhu et al.
MOLECULAR HUMAN REPRODUCTION (2013)
A Novel m. 6307A>G Mutation in the Mitochondrial COXI Gene in Asthenozoospermic Infertile Men
Siwar Baklouti-Gargouri et al.
MOLECULAR REPRODUCTION AND DEVELOPMENT (2013)
Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3
Ana Paula Abreu et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Knockdown of UCHL5IP causes abnormalities in γ-tubulin localisation, spindle organisation and chromosome alignment in mouse oocyte meiotic maturation
Ya-Peng Wang et al.
REPRODUCTION FERTILITY AND DEVELOPMENT (2013)
Gene Mutations Associated with Anomalies of Human Gonad Formation
A. Bashamboo et al.
SEXUAL DEVELOPMENT (2013)
Mouse HFM1/Mer3 Is Required for Crossover Formation and Complete Synapsis of Homologous Chromosomes during Meiosis
Michel F. Guiraldelli et al.
PLOS GENETICS (2013)
The Wilms Tumor Gene, Wt1, Is Critical for Mouse Spermatogenesis via Regulation of Sertoli Cell Polarity and Is Associated with Non-Obstructive Azoospermia in Humans
Xiao Na Wang et al.
PLOS GENETICS (2013)
Loss-of-Function Mutations in LRRC6, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia
Esther Kott et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Healthy birth after testicular extraction of sperm and ICSI from an azoospermic man with mild androgen insensitivity syndrome caused by an androgen receptor partial loss-of-function mutation
Nathalie Massin et al.
CLINICAL ENDOCRINOLOGY (2012)
Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus
Virginie Pierre et al.
DEVELOPMENT (2012)
SPACA1-deficient male mice are infertile with abnormally shaped sperm heads reminiscent of globozoospermia
Yoshitaka Fujihara et al.
DEVELOPMENT (2012)
Possible Association of a Novel Missense Mutation A6375G in the Mitochondrial Cytochrome C Oxidase I Gene with Asthenospermia in the Tunisian Population
Siwar Baklouti-Gargouri et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2012)
An ancient founder mutation in PROKR2 impairs human reproduction
Magdalena Avbelj Stefanija et al.
HUMAN MOLECULAR GENETICS (2012)
Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots
Elias ElInati et al.
HUMAN MOLECULAR GENETICS (2012)
The Androgen Receptor Gene Mutations Database: 2012 Update
Bruce Gottlieb et al.
HUMAN MUTATION (2012)
MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia
Charles Coutton et al.
HUMAN REPRODUCTION (2012)
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens
Hongjun Li et al.
JOURNAL OF CYSTIC FIBROSIS (2012)
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
Sylvain Blanchon et al.
JOURNAL OF MEDICAL GENETICS (2012)
The Small Heat Shock Protein ODF1/HSPB10 Is Essential for Tight Linkage of Sperm Head to Tail and Male Fertility in Mice
Kefei Yang et al.
MOLECULAR AND CELLULAR BIOLOGY (2012)
MCM8- and MCM9-Deficient Mice Reveal Gametogenesis Defects and Genome Instability Due to Impaired Homologous Recombination
Malik Lutzmann et al.
MOLECULAR CELL (2012)
Association of mutations in the zona pellucida binding protein 1 (ZPBP1) gene with abnormal sperm head morphology in infertile men
Alexander N. Yatsenko et al.
MOLECULAR HUMAN REPRODUCTION (2012)
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
Jennifer R. Panizzi et al.
NATURE GENETICS (2012)
Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism
A. Kemal Topaloglu et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
SEPTIN12 Genetic Variants Confer Susceptibility to Teratozoospermia
Ying-Hung Lin et al.
PLOS ONE (2012)
Unexplained infertility: an update and review of practice
Arpita Ray et al.
REPRODUCTIVE BIOMEDICINE ONLINE (2012)
The Molecular Genetics of Sex Determination and Sex Reversal in Mammals
Alexander Quinn et al.
SEMINARS IN REPRODUCTIVE MEDICINE (2012)
MNS1 Is Essential for Spermiogenesis and Motile Ciliary Functions in Mice
Jian Zhou et al.
PLOS GENETICS (2012)
A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation
Radu Harbuz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
XX Ovarian Dysgenesis Is Caused by a PSMC3IP/HOP2 Mutation that Abolishes Coactivation of Estrogen-Driven Transcription
David Zangen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
DPY19L2 Deletion as a Major Cause of Globozoospermia
Isabelle Koscinski et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Deficiency in the Omega-3 Fatty Acid Pathway Results in Failure of Acrosome Biogenesis in Mice
Manuel Roqueta-Rivera et al.
BIOLOGY OF REPRODUCTION (2011)
Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene
Annik Hauri-Hohl et al.
CLINICAL ENDOCRINOLOGY (2011)
Hsp90b1 knockout targeted to male germline: a mouse model for globozoospermia
Christophe Audouard et al.
FERTILITY AND STERILITY (2011)
Three New SF-1 (NR5A1) Gene Mutations in Two Unrelated Families with Multiple Affected Members: Within-Family Variability in 46,XY Subjects and Low Ovarian Reserve in Fertile 46,XX Subjects
Diana Monica Warman et al.
HORMONE RESEARCH IN PAEDIATRICS (2011)
Novel NOBOX Loss-of-Function Mutations Account for 6.2% of Cases in a Large Primary Ovarian Insufficiency Cohort
Justine Bouilly et al.
HUMAN MUTATION (2011)
A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis
Mariem Ben Khelifa et al.
MOLECULAR HUMAN REPRODUCTION (2011)
Tudor domain containing 7 (Tdrd7) is essential for dynamic ribonucleoprotein (RNP) remodeling of chromatoid bodies during spermatogenesis
Takashi Tanaka et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism
Janne Tornberg et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Protein Tyrosine Kinase Wee1B Is Essential for Metaphase II Exit in Mouse Oocytes
Jeong Su Oh et al.
SCIENCE (2011)
WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome
Hyung-Goo Kim et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
A newly discovered mutation in PICK1 in a human with globozoospermia
Gang Liu et al.
ASIAN JOURNAL OF ANDROLOGY (2010)
A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient
Mohammad Shahid et al.
BMC MEDICAL GENETICS (2010)
Maternal control of early mouse development
Lei Li et al.
DEVELOPMENT (2010)
TMF/ARA160: A key regulator of sperm development
Tal Lerer-Goldshtein et al.
DEVELOPMENTAL BIOLOGY (2010)
The CFTR frameshift mutation 3905insT and its effect at transcript and protein level
Javier Sanz et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Idiopathic hypogonadotropic hypogonadism in a mother and her monozygotic twins born after a single embryo transfer
Eeva-Maria Laitinen et al.
FERTILITY AND STERILITY (2010)
Mutations in SOHLH1 Gene Associate with Nonobstructive Azoospermia
Youngsok Choi et al.
HUMAN MUTATION (2010)
Zmynd15 Encodes a Histone Deacetylase-dependent Transcriptional Repressor Essential for Spermiogenesis and Male Fertility
Wei Yan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Mutations of the KISS1 Gene in Disorders of Puberty
L. G. Silveira et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Aurora-C Kinase Deficiency Causes Cytokinesis Failure in Meiosis I and Production of Large Polyploid Oocytes in Mice
Kuo-Tai Yang et al.
MOLECULAR BIOLOGY OF THE CELL (2010)
Analysis of FOXO3 mutation in 114 Chinese women with premature ovarian failure
Binbin Wang et al.
REPRODUCTIVE BIOMEDICINE ONLINE (2010)
Cdc20 Is Critical for Meiosis I and Fertility of Female Mice
Fang Jin et al.
PLOS GENETICS (2010)
Rat hd Mutation Reveals an Essential Role of Centrobin in Spermatid Head Shaping and Assembly of the Head-Tail Coupling Apparatus
Frantisek Liska et al.
BIOLOGY OF REPRODUCTION (2009)
The Glycosylphosphatidylinositol-Anchored Serine Protease PRSS21 (Testisin) Imparts Murine Epididymal Sperm Cell Maturation and Fertilizing Ability
Sarah Netzel-Arnett et al.
BIOLOGY OF REPRODUCTION (2009)
Tdrd6 Is Required for Spermiogenesis, Chromatoid Body Architecture, and Regulation of miRNA Expression
Ana Vasileva et al.
CURRENT BIOLOGY (2009)
RIM-BP3 is a manchette-associated protein essential for spermiogenesis
Jing Zhou et al.
DEVELOPMENT (2009)
The TDRD9-MIWI2 Complex Is Essential for piRNA-Mediated Retrotransposon Silencing in the Mouse Male Germline
Masanobu Shoji et al.
DEVELOPMENTAL CELL (2009)
Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility
Giovanna Vinci et al.
FERTILITY AND STERILITY (2009)
Clinical, Genetic, and Enzymatic Characterization of P450 Oxidoreductase Deficiency in Four Patients
Taninee Sahakitrungruang et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
PICK1 deficiency causes male infertility in mice by disrupting acrosome formation
Nan Xiao et al.
JOURNAL OF CLINICAL INVESTIGATION (2009)
Mutations in the protamine locus: association with spermatogenic failure?
L. Imken et al.
MOLECULAR HUMAN REPRODUCTION (2009)
The highly conserved NANOS2 protein: testis-specific expression and significance for the human male reproduction
K. M. Kusz et al.
MOLECULAR HUMAN REPRODUCTION (2009)
Mutations in NR5A1 Associated with Ovarian Insufficiency
Diana Lourenco et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Mutation of the Mouse Syce1 Gene Disrupts Synapsis and Suggests a Link between Synaptonemal Complex Structural Components and DNA Repair
Ewelina Bolcun-Filas et al.
PLOS GENETICS (2009)
OAZ-t/OAZ3 Is Essential for Rigid Connection of Sperm Tails to Heads in Mouse
Keizo Tokuhiro et al.
PLOS GENETICS (2009)
Transcription factor FIGLA is mutated in patients with Premature Ovarian Failure
Han Zhao et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Prm3, the fourth gene in the mouse protamine gene cluster, encodes a conserved acidic protein that affects sperm motility
Pawel Grzmil et al.
BIOLOGY OF REPRODUCTION (2008)
Role for PADI6 and the cytoplasmic lattices in ribosomal storage in oocytes and translational control in the early mouse embryo
Piraye Yurttas et al.
DEVELOPMENT (2008)
Genetic investigation of four meiotic genes in women with premature ovarian failure
Beatrice Mandon-Pepin et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2008)
Analysis of the SRY gene in two sex-reversed XY sisters identifies two new novel point mutations in the high mobility group box domain
Mohd Shahid et al.
FERTILITY AND STERILITY (2008)
A novel mutation in exon8 of the follicle-stimulating hormone receptor in a woman with primary amenorrhea
Yasuhiko Nakamura et al.
GYNECOLOGICAL ENDOCRINOLOGY (2008)
Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia
D. Zuccarello et al.
HUMAN REPRODUCTION (2008)
Mouse TEX15 is essential for DNA double-strand break repair and chromosomal synapsis during male meiosis
Fang Yang et al.
JOURNAL OF CELL BIOLOGY (2008)
A GPR54-activating mutation in a patient with central precocious puberty
Milena Gurgel Teles et al.
NEW ENGLAND JOURNAL OF MEDICINE (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)
Polymorphism of the GRTH/DDX25 gene in normal and infertile Japanese men:: a missense mutation associated with loss of GRTH phosphorylation
Chon-Hwa Tsai-Morris et al.
MOLECULAR HUMAN REPRODUCTION (2007)
Novel mutations in tibiquitin-specific protease 26 gene might cause spermatogenesis impairment and male infertility
Jie Zhang et al.
ASIAN JOURNAL OF ANDROLOGY (2007)
Screening for FOXL2 gene mutations in women with premature ovarian failure:: an Indian experience
Supama Chatterjee
REPRODUCTIVE BIOMEDICINE ONLINE (2007)
The first bromodomain of Brdt, a testis-specific member of the BET sub-family of double-bromodomain-containing proteins, is essential for male germ cell differentiation
Enyuan Shang et al.
DEVELOPMENT (2007)
Loss of zona pellucida binding proteins in the acrosomal matrix disrupts acrosome biogenesis and sperm morphogenesis
Yi-Nan Lin et al.
MOLECULAR AND CELLULAR BIOLOGY (2007)
Mutation analysis of the X-chromosome linked, testis-specific TAF7L gene in spermatogenic failure
O. Akinloye et al.
ANDROLOGIA (2007)
Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia
Anika H. D. M. Dam et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Mouse pachytene checkpoint 2 (Trip13) is required for completing meiotic recombination but not Synapsis
Xin Li et al.
PLOS GENETICS (2007)
Sperm motility defects and infertility in male mice with a mutation in Nsun7, a member of the sun domain-containing family of putative RNA methyltransferases
Tanya Harris et al.
BIOLOGY OF REPRODUCTION (2007)
Mutations in the protamine 1 gene associated with male infertility
C. Ravel et al.
MOLECULAR HUMAN REPRODUCTION (2007)
Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility
Klaus Dieterich et al.
NATURE GENETICS (2007)
Abnormal sperm in mice lacking the Taf7l gene
Yong Cheng et al.
MOLECULAR AND CELLULAR BIOLOGY (2007)
Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men
Wei Zhang et al.
REPRODUCTION (2007)
Mutation of β-glucosidase 2 causes glycolipid storage disease and impaired male fertility
Yildiz Yildiz et al.
JOURNAL OF CLINICAL INVESTIGATION (2006)
R-spondin1 is essential in sex determination, skin differentiation and malignancy
Pietro Parma et al.
NATURE GENETICS (2006)
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes
Nelly Pitteloud et al.
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2006)
Insulin-like factor 3 gene mutations in testicular dysgenesis syndrome: clinical and functional characterization
A. Ferlin et al.
MOLECULAR HUMAN REPRODUCTION (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)
An intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pig
A Sironen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Sohlh1 is essential for spermatogonial differentiation
D. Ballow et al.
DEVELOPMENTAL BIOLOGY (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)
Wee1B is an oocyte-specific kinase involved in the control of meiotic arrest in the mouse
SJ Han et al.
CURRENT BIOLOGY (2005)
Maintenance of spermatogenesis requires TAF4b, a gonad-specific subunit of TFIID
AE Falender et al.
GENES & DEVELOPMENT (2005)
The immunoglobulin superfamily protein Izumo is required for sperm to fuse with eggs
N Inoue et al.
NATURE (2005)
Lunatic fringe null female mice are infertile due to defects in meiotic maturation
KL Hahn et al.
DEVELOPMENT (2005)
Functional analysis of Sox8 and Sox9 during sex determination in the mouse
MC Chaboissier et al.
DEVELOPMENT (2004)
Gonadotropin-regulated testicular RNA helicase (GRTH/Ddx25) is essential for spermatid development and completion of spermatogenesis
CH Tsai-Morris et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
E2F1 deficiency impairs murine spermatogenesis and augments testicular degeneration in SCP3-nullizygous mice
MR Hoja et al.
CELL DEATH AND DIFFERENTIATION (2004)
Targeted deletion of the epididymal receptor HE6 results in fluid dysregulation and male infertility
B Davies et al.
MOLECULAR AND CELLULAR BIOLOGY (2004)
NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression
A Rajkovic et al.
SCIENCE (2004)
A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46,XX woman
A Biason-Lauber et al.
NEW ENGLAND JOURNAL OF MEDICINE (2004)
Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function
EG Puffenberger et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation
M Shahid et al.
MOLECULAR HUMAN REPRODUCTION (2004)
Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene
E Di Pasquale et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Cohesin SMC1β is required for meiotic chromosome dynamics, sister chromatid cohesion and DNA recombination
E Revenkova et al.
NATURE CELL BIOLOGY (2004)
Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens
A Grangeia et al.
HUMAN REPRODUCTION (2004)
Azoospermia in patients heterozygous for a mutation in SYCP3
T Miyamoto et al.
LANCET (2003)
The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism
A Ferlin et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)
Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: Clinical, histological, and molecular studies
G Meduri et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)
nanos1:: a mouse nanos gene expressed in the central nervous system is dispensable for normal development
S Haraguchi et al.
MECHANISMS OF DEVELOPMENT (2003)
Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis
MA Crackower et al.
SCIENCE (2003)
Targeted disruption of the heat shock transcription factor (hsf)-2 gene results in increased embryonic lethality, neuronal defects, and reduced spermatogenesis
GH Wang et al.
GENESIS (2003)
Requirement of Cks2 for the first metaphase/anaphase transition of mammalian meiosis
CH Spruck et al.
SCIENCE (2003)
The Hop2 protein has a direct role in promoting interhomolog interactions during mouse meiosis
GV Petukhova et al.
DEVELOPMENTAL CELL (2003)
Acroplaxome, an F-actin-keratin-containing plate, anchors the acrosome to the nucleus during shaping of the spermatid head
AL Kierszenbaum et al.
MOLECULAR BIOLOGY OF THE CELL (2003)
Novel mutations affecting SRY DNA-binding activity:: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes
JG Assumpçao et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2002)
Generation and characterization of androgen receptor knockout (ARKO) mice:: An in vivo model for the study of androgen functions in selective tissues
SY Yeh et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Mutations of the GREAT gene cause cryptorchidism
IP Gorlov et al.
HUMAN MOLECULAR GENETICS (2002)
Lack of acrosome formation in mice lacking a Golgi protein, GOPC
RJ Yao et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
The Hook1 gene is non-functional in the abnormal spermatozoon head shape (azh) mutant mouse
I Mendoza-Lujambio et al.
HUMAN MOLECULAR GENETICS (2002)
Cdc25b phosphatase is required for resumption of meiosis during oocyte maturation
AJ Lincoln et al.
NATURE GENETICS (2002)
The mouse meiotic mutation mei1 disrupts chromosome synapsis with sexually dimorphic consequences for meiotic progression
BJ Libby et al.
DEVELOPMENTAL BIOLOGY (2002)
Lack of acrosome formation in Hrb-deficient mice
N Kang-Decker et al.
SCIENCE (2001)
Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency
J Neesen et al.
HUMAN MOLECULAR GENETICS (2001)
Haploinsufficiency of protamine-1 or-2 causes infertility in mice
C Cho et al.
NATURE GENETICS (2001)
Mater, a maternal effect gene required for early embryonic development in mice
ZB Tong et al.
NATURE GENETICS (2000)
Mammalian sperm acrosome: Formation, contents, and function
A Abou-Haila et al.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2000)
Normal fertilization occurs with eggs lacking the integrin α6β1 and is CD9-dependent
BJ Miller et al.
JOURNAL OF CELL BIOLOGY (2000)
The gamete fusion process is defective in eggs of Cd9-deficient mice
K Kaji et al.
NATURE GENETICS (2000)
The murine SCP3 gene is required for synaptonemal complex assembly, chromosome synapsis, and male fertility
L Yuan et al.
MOLECULAR CELL (2000)
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