The Genetics of Male Infertility

The Genetics and Biology of Drosophila

1978 • 3,910 citations

Bax-Deficient Mice with Lymphoid Hyperplasia and Male Germ Cell Death

1995 • 1,500 citations

Stem cell factor is encoded at the SI locus of the mouse and is the ligand for the c-kit tyrosine kinase receptor

1990 • 1,448 citations

Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility

1997 • 1,331 citations

Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA–binding protein gene

1995 • 1,202 citations

Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human y chromosome long arm

1976 • 980 citations

Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens

1995 • 949 citations

Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma.

1996 • 851 citations

Targeted disruption of the estrogen receptor gene in male mice causes alteration of spermatogenesis and infertility.

1996 • 827 citations

Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over

1996 • 800 citations

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

1991 • 673 citations

The mouse Dazla gene encodes a cytoplasmic protein essential for gametogenesis

1997 • 636 citations

Effects of an Igf1 gene null mutation on mouse reproduction.

1996 • 615 citations

A cytogenetic survey of 14,069 newborn infants

1975 • 560 citations

NON-DISJUNCTION AS PROOF OF THE CHROMOSOME THEORY OF HEREDITY

1916 • 542 citations

Targeted gene disruption of Hsp70-2 results in failed meiosis, germ cell apoptosis, and male infertility.

1996 • 531 citations

Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome

1996 • 527 citations

Long Polyglutamine Tracts in the Androgen Receptor Are Associated with ReducedTrans-Activation, Impaired Sperm Production, and Male Infertility¹

1997 • 519 citations

A Y chromosome gene family with RNA-binding protein homology: Candidates for the azoospermia factor AZF controlling human spermatogenesis

1993 • 515 citations

Severe impairment of permatogenesis in mice lacking the CREM gene

1996 • 513 citations

A Family with Hypogonadotropic Hypogonadism and Mutations in the Gonadotropin-Releasing Hormone Receptor

1997 • 503 citations

Reversal of Left-Right Asymmetry: a Situs Inversus Mutation

1993 • 470 citations

A clinical study of Noonan syndrome.

1992 • 461 citations

The Human Y Chromosome: A 43-Interval Map Based on Naturally Occurring Deletions

1992 • 459 citations

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis

1992 • 457 citations

Epidemiology and aetiology of male infertility

1998 • 446 citations

KINETICS OF THE GERMINAL EPITHELIUM IN MAN.

1964 • 438 citations

The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned

1996 • 432 citations

A cytogenetic survey of 11,680 newborn infants

1974 • 431 citations

Effects of the steel gene product on mouse primordial germ cells in culture

1991 • 405 citations

Meiotic cell cycle requirement for a fly homologue of human Deleted in Azoospermia

1996 • 402 citations

Inactivation of the HR6B Ubiquitin-Conjugating DNA Repair Enzyme in Mice Causes Male Sterility Associated with Chromatin Modification

1996 • 402 citations

Hoxa 11 structure, extensive antisense transcription, and function in male and female fertility

1995 • 390 citations

Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia

1999 • 387 citations

Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.

1991 • 385 citations

Toward a molecular genetic analysis of spermatogenesis in Drosophila melanogaster: characterization of male-sterile mutants generated by single P element mutagenesis.

1993 • 358 citations

Testicular and Ovarian Resistance to Luteinizing Hormone Caused by Inactivating Mutations of the Luteinizing Hormone–Receptor Gene

1996 • 345 citations

A deletion map of the human Y chromosome based on DNA hybridization.

1986 • 337 citations

Apoptosis regulator Bcl-w is essential for spermatogenesis but appears otherwise redundant

1998 • 333 citations

Angiotensin-converting enzyme and male fertility

1998 • 321 citations

Abnormal spermatogenesis in RXR beta mutant mice.

1996 • 311 citations

Effects of an Igf1 gene null mutation on mouse reproduction

1996 • 302 citations

Targeted disruption of the estrogen receptor gene in male mice causes alteration of spermatogenesis and infertility

1996 • 275 citations

The gene encoding bone morphogenetic protein 8B is required for the initiation and maintenance of spermatogenesis in the mouse.

1996 • 274 citations

Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene

1999 • 265 citations

Germ cell defects and hematopoietic hypersensitivity to gamma- interferon in mice with a targeted disruption of the Fanconi anemia C gene

1996 • 265 citations

Testicular degeneration in Bclw-deficient mice

1998 • 263 citations

Delayed Puberty and Hypogonadism Caused by Mutations in the Follicle-Stimulating Hormone β-Subunit Gene

1997 • 256 citations

The incidence and possible relevance of Y-linked microdeletions in babies born after intracytoplasmic sperm injection and their infertile fathers

1996 • 254 citations

Laron Dwarfism and Non-Insulin-Dependent Diabetes Mellitus in the Hnf-1α Knockout Mouse

1998 • 251 citations

Male Hypogonadism Due to a Mutation in the Gene for the β-Subunit of Follicle-Stimulating Hormone

1998 • 244 citations

Developmental Roles of the Steroidogenic Acute Regulatory Protein (StAR) as Revealed by StAR Knockout Mice

2000 • 242 citations

Human leukocyte antigen matching and fetal loss: results of a 10 year prospective study

1998 • 235 citations

Germ cell defects and hematopoietic hypersensitivity to gamma- interferon in mice with a targeted disruption of the Fanconi anemia C gene

1996 • 233 citations

Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene

1992 • 229 citations

Hormonal, Histological and Chromosomal Studies in Adult Males with Testicular Disorders¹

1972 • 227 citations

Arrest of spermatogenesis and defective breast development in mice lacking A-myb

1997 • 223 citations

The c-ros tyrosine kinase receptor controls regionalization and differentiation of epithelial cells in the epididymis.

1996 • 218 citations

A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads

1996 • 217 citations

THE CHROMOSOMAL BASIS OF HUMAN INFERTILITY

1979 • 211 citations

Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome

1992 • 210 citations

Protein Secretions of Sertoli Cells

1988 • 207 citations

RNA-binding protein TIAR is essential for primordial germ cell development

1998 • 196 citations

Clinical review 64: Pathophysiology and natural history of male infertility.

1994 • 196 citations

Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy.

1996 • 194 citations

Pathogenesis and management of male infertility

1994 • 194 citations

Bone morphogenetic protein 8A plays a role in the maintenance of spermatogenesis and the integrity of the epididymis

1998 • 173 citations

Zfx mutation results in small animal size and reduced germ cell number in male and female mice

1997 • 171 citations

Stem cell factor and c-kit in the mammalian testis: lessons originating from Mother Nature's gene knockouts

1997 • 171 citations

Intragenic Deletion of theKALIG-1Gene in Kallmann's Syndrome

1992 • 171 citations

Sp4, a Member of the Sp1-Family of Zinc Finger Transcription Factors, Is Required for Normal Murine Growth, Viability, and Male Fertility

1996 • 170 citations

GENETIC ANALYSIS OF THE MALE FERTILITY FACTORS ON THE Y CHROMOSOME OF DROSOPHILA MELANOGASTER

1960 • 166 citations

Gonadal Function Abnormalities in Sickle Cell Anemia

1976 • 162 citations

Genetic Activities of The Y Chromosome in Drosophila During Spermatogenesis

1968 • 161 citations

Klinefelter's Syndrome and Its Variants: A Hormonal and Chromosomal Study,

1968 • 160 citations

The GAGA factor is required in the early Drosophila embryo not only for transcriptional regulation but also for nuclear division

1996 • 160 citations

The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human.

1996 • 160 citations

Coordinate developmental control of the meiotic cell cycle and spermatid differentiation in Drosophila males

1996 • 157 citations

Impaired fertility in mice deficient for the testicular germ-cell protease PC4

1997 • 157 citations

Case-control study of whether subfertility in men is familial

1994 • 155 citations

A Homozygous Mutation in the Luteinizing Hormone Receptor Causes Partial Leydig Cell Hypoplasia: Correlation between Receptor Activity and Phenotype

1998 • 152 citations

Mouse Autosomal Homolog ofDAZ,a Candidate Male Sterility Gene in Humans, Is Expressed in Male Germ Cells before and after Puberty

1996 • 144 citations

A Mouse Translocation Suppressing Sex-Linked Variegation

1964 • 142 citations

Abnormal Spermiogenesis in Quaking, a Myelin-Deficient Mutant Mouse1

1971 • 142 citations

Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of de novo deletions

2000 • 142 citations

Prader-Willi and Angelman Syndromes: Disorders of Genomic Imprinting

1998 • 141 citations

MIXED GONADAL DYSGENESIS

1973 • 140 citations

A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia

1995 • 133 citations

The mouse Y* chromosome involves a complex rearrangement, including interstitial positioning of the pseudoautosomal region

1991 • 131 citations

Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia.

1996 • 121 citations

Autosomal Translocations Causing Male Sterility and Viable Aneuploidy in the Mouse

1966 • 119 citations

CYTOGENETIC ANALYSIS OF A SEGMENT OF THE Y CHROMOSOME OF DROSOPHILA MELANOGASTER

1984 • 114 citations

The Drosophila gene fs(2)cup interacts with otu to define a cytoplasmic pathway required for the structure and function of germ-line chromosomes

1997 • 111 citations

Delayed Puberty and Hypogonadism Caused by Mutations in the Follicle-Stimulating Hormone beta-Subunit Gene

1998 • 109 citations

Y chromosome loops in Drosophila melanogaster.

1988 • 107 citations

Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males

1987 • 107 citations

Germ-cell deficient (gcd), an insertional mutation manifested as infertility in transgenic mice.

1991 • 102 citations

Chromosome Y-specific DNA in related human XX males

1985 • 100 citations

Inherited disorders of the gonadotropin hormones

2001 • 98 citations

Genetic Control of Spermatogenesis in Mice

1987 • 95 citations

Rapid screening of the Y chromosome in idiopathic sterile men, diagnostic for deletions in AZF, a genetic Y factor expressed during spermatogenesis

2009 • 93 citations

Analysis of the testes of H-Y negative XOSxrb mice suggests that the spermatogenesis gene (Spy) acts during the differentiation of the A spermatogonia

1989 • 91 citations

Gonadotropin Insufficiency in Patients with Thalassemia Major*

1979 • 88 citations

Location of the genes controlling H-Y antigen expression and testis determination on the mouse Y chromosome.

1988 • 88 citations

The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human

1996 • 87 citations

Colony-Stimulating Factor-1 Plays a Major Role in the Development of Reproductive Function in Male Mice

1997 • 86 citations

Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy

1996 • 83 citations

Untersuchungen über Aberrationen des Y-Chromosoms vonDrosophila melanogaster

1929 • 80 citations

Prader-Willi and other syndromes associated with obesity and mental retardation.

1997 • 80 citations

Drosophila Centrosomin Protein is Required for Male Meiosis and Assembly of the Flagellar Axoneme

1998 • 80 citations

ULTRASTRUCTURAL ABNORMALITIES IN DEVELOPING SPERM OF X/0 DROSOPHILA MELANOGASTER

1966 • 79 citations

Male Hypogonadism Due to a Mutation in the Gene for the beta-Subunit of Follicle-Stimulating Hormone

1999 • 79 citations

A Minute Deletion of the Y Chromosome in Men with Azoospermia

1993 • 78 citations

The Human Testis

1970 • 77 citations

Gene expression and the control of spermatid morphogenesis in Drosophila melanogaster

1977 • 76 citations

Karyotype, meiosis and spermatogenesis in a sample of men attending an infertility clinic.

1966 • 75 citations

Clinical review 64: Pathophysiology and natural history of male infertility

1994 • 74 citations

The role of luteinizing hormone-beta gene polymorphism in the onset and progression of puberty in healthy boys.

1996 • 71 citations

Brief Report

1992 • 69 citations

The gonadotropin genes: evolution of distinct mechanisms for hormonal control.

1996 • 68 citations

Clinical manifestations of genetic defects affecting gonadotrophins and their receptors

1996 • 68 citations

Clinical Embryology for Medical Students

1973 • 68 citations

Fertility and Infertility: Genetic Contributions from the Hypothalamic-Pituitary- Gonadal Axis

1999 • 67 citations

Normal Structure of the Gonadotropin-Releasing Hormone (GnRH) Gene in Patients with GnRH Deficiency and Idiopathic Hypogonadotropic Hypogonadism*

1989 • 65 citations

Pathologic testicular findings in Klinefelter's syndrome. 47,XXY vs 46,XY-47,XXY.

1972 • 63 citations

Endocrine function and haemoglobinopathies: Relation between the sickle cell gene and circulating plasma levels of testosterone, luteinising hormone (LH) and follicle stimulating hormone (FSH) in adult males

1980 • 63 citations

Effects of expression of human or bovine growth hormone genes on sperm production and male reproductive performance in four lines of transgenic mice

1992 • 63 citations

Reduced fertility in mice deficient for the POU protein sperm-1

1997 • 63 citations

Clinical Management of Male Infertility

2015 • 62 citations

The Transmission of Fragmented Chromosomes in Drosophila melanogaster

1998 • 61 citations

Hybrid Sterility-6: A Mouse t Complex Locus Controlling Sperm Flagellar Assembly and Movement

1993 • 61 citations

Failure of Acrosome Assembly in a Male Sterile Mouse Mutant1

1986 • 59 citations

Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia

1996 • 59 citations

XXY Mice

1961 • 59 citations

Lampbrush loop-specific protein of Drosophila hydei.

1984 • 57 citations

Hop-sterile, a mutant gene affecting sperm tail development in the mouse

1971 • 55 citations

Interferon expression in the testes of transgenic mice leads to sterility.

1988 • 54 citations

A novel functional role for apolipoprotein B in male infertility in heterozygous apolipoprotein B knockout mice.

1996 • 53 citations

The Parkes lecture. Mutations of gonadotrophin and gonadotrophin receptor genes: what do they teach us about reproductive physiology?

2000 • 52 citations

The Drosophila pipsqueak gene encodes a nuclear BTB-domain-containing protein required early in oogenesis

1996 • 52 citations

Identification of human candidate genes for male infertility by digital differential display

2001 • 50 citations

Induction of spermatogenesis in thalassaemia

1988 • 49 citations

Azoospermia Associated with a Mutation in the Ligand-Binding Domain of an Androgen Receptor Displaying Normal Ligand Binding, but DefectiveTrans-Activation¹

1998 • 48 citations

An XXY sex-chromosome constitution in a dog with testicular hypoplasia and congenital heart disease

1970 • 48 citations

Clomiphene-Responsive Hypogonadism in Sickle Cell Anemia

1983 • 47 citations

Male pachytene pairing in single and double translocation heterozygotes and spermatogenic impairment in the mouse

1986 • 47 citations

Monographs in Human Genetics, 2

1967 • 46 citations

Characterisation of male meiotic-sterile mutations in Drosophila melanogaster

1977 • 46 citations

Male Hypogonadism in Myotonic Dystrophy is Related to (Ctg)N Triplet Mutation

1994 • 43 citations

TESTICULAR HYPOPLASIA AND XXY SEX CHROMOSOME COMPLEMENT IN TWO RAMS: THE OVINE COUNTERPART OF KLINEFELTER'S SYNDROME IN MAN

1969 • 41 citations

NATURE AND CONSEQUENCES OF INDUCED CHROMOSOME DAMAGE IN MAMMALS

1974 • 41 citations

Meiotic analysis of two human reciprocal X-autosome translocations

1988 • 39 citations

Molecular structure of the lampbrush loops nooses of the Y chromosome of Drosophila hydei

1986 • 39 citations

Abnormal microtubular systems in mouse spermatids associated with a mutant gene at the T-locus

1974 • 37 citations

Chromosomal Causes for Fertility Reduction in Mammals

1986 • 37 citations

Male Tortoiseshell and Calico (T-C) Cats

1973 • 36 citations

Genetic function correlated with unfolding of lampbrush loops by the Y chromosome in spermatocytes of Drosophila hydei

1970 • 35 citations

PITUITARY-GONADAL FUNCTION IN MALE PATIENTS WITH MYOTONIC DYSTROPHY - SERUM LUTEINIZING HORMONE, FOLLICLE STIMULATING HORMONE AND TESTOSTERONE LEVELS AND HISTOLOGICAL DAMAGE OF THE TESTIS

1977 • 35 citations

Fertility studies of complementing genotypes at the albino locus of the mouse

1978 • 34 citations

Ullrich-Turner syndrome in the male: review of the literature and report of a case with lymphocytic (Hashimoto's) thyroiditis.

1966 • 33 citations

Mitochondrially Encoded 16S Large Ribosomal RNA Is Concentrated in the Posterior Polar Plasm of Early Drosophila Embryos but Is Not Required for Pole Cell Formation

1994 • 33 citations

Gonadotropin receptor mutations

1997 • 33 citations

Inherited disorders of the gonadotropin hormones

1996 • 31 citations

Testis structure in the sys (symplastic spermatids) mouse

1991 • 30 citations

Dominant male sterility in mice caused by insertion of a transgene.

1991 • 29 citations

The role of luteinizing hormone-beta gene polymorphism in the onset and progression of puberty in healthy boys

1996 • 28 citations

GENETIC ABNORMALITIES AND REPRODUCTIVE FAILURE

1994 • 28 citations

Dynamics of Human Spermatogenesis

1970 • 26 citations

Gonadotropin Dynamics in XX Males*

1981 • 25 citations

PITUITARY‐GONADAL FUNCTION IN XYY AND XXY MEN IDENTIFIED IN A POPULATION SURVEY

1978 • 25 citations

Genetic and developmental analysis of mutant Ketel alleles that identify the Drosophila importin-β homologue

1997 • 23 citations

GONADOTROPHINS AND TESTOSTERONE IN THE XYY SYNDROME

1970 • 23 citations

Hydrocephalic-polydactyl, a recessive pleiotropic mutant in the mouse and its location in chromosome 6.

1976 • 19 citations

Clonal heterogeneity at allelic methylation sites diagnostic for Prader–Willi and Angelman syndromes

1998 • 19 citations

Mutation analysis of the gonadotropin-releasing hormone receptor gene in idiopathic hypogonadotropic hypogonadism

1997 • 18 citations

Colony-Stimulating Factor-1 Plays a Major Role in the Development of Reproductive Function in Male Mice

1997 • 18 citations

ANIMAL MODELS THAT MIMIC HUMAN MALE REPRODUCTIVE DEFECTS

1994 • 17 citations

Anomalies in transgenic mice carrying the human interleukin-2 gene.

1990 • 17 citations

Genomic structure of a Y-specific ribonucleic acid binding motif-containing gene: a putative candidate for a subset of male infertility.

1996 • 17 citations

Luteinizing Hormone Resistance Syndromes

1997 • 13 citations

Pathologic testicular findings in Klinefelter's syndrome. 47,XXY vs 46,XY-47,XXY

1972 • 13 citations

Molecular Pathophysiology of the Pituitary-Gonadal Axis

1997 • 11 citations

Developmental genetical analysis and molecular cloning of the abnormal oocyte gene of Drosophila melanogaster.

1995 • 11 citations

Morphological profiles of cryptorchid XXY mouse testes

1981 • 10 citations

Y two X's?: An XXY genotype in Chinese hamster, C. griseus

1978 • 8 citations

The relationship between experimental embryology and molecular biology

1967 • 8 citations

Genomic structure of a Y-specific ribonucleic acid binding motif- containing gene: a putative candidate for a subset of male infertility

1996 • 7 citations

The XXY syndrome in cattle (bovine hypogonadism).

1970 • 3 citations

Deleted Work

1955 • 0 citations