Classical and Molecular Cytogenetics of Disorders of Sex Development in Domestic Animals

No abstract is available for this paper.

• Publication year

  2009

• Venue

  Cytogenetic and Genome Research

• Publication date

  2009-12-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1159/000245911PMID 20016161
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Sex chromosomes and sex chromosome abnormalities.

  2011influential reference
• Genetic diagnosis of sex chromosome aberrations in horses based on parentage test by microsatellite DNA and analysis of X- and Y-linked markers.

  2010cited by this paper
• Nonmosaic X trisomy, detected by chromosome painting, in an infertile mare.

  2010cited by this paper
• Chromosome aberrations and their influence on the reproductive performance of domestic animals - a review

  2010cited by this paper
• X chromosome detection in an XO mare using a human X paint probe, and PCR detection of SRY and amelogenin genes in 3 XY mares.

  2010cited by this paper
• XX-XY chimerism in leucocytes of two intersexual pigs.

  2009cited by this paper
• Genetic analysis of 38XX males with genital ambiguities and true hermaphrodites in pigs.

  2009influential reference
• A case report on X-trisomy in cattle.

  2009cited by this paper
• Mixed Signals: Development of the Testis

  2009cited by this paper
• Polymorphism analysis of microsatellites associated with seven candidate genes for equine cryptorchidism.

  2009cited by this paper
• Antagonism of the testis- and ovary-determining pathways during ovotestis development in mice.

  2009cited by this paper
• Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.

  2009cited by this paper
• A critical time window of Sry action in gonadal sex determination in mice

  2009cited by this paper
• Sex chromosome chimerism and the freemartin syndrome in Rideau Arcott sheep

  2008influential reference
• New insights into SRY regulation through identification of 5' conserved sequences

  2008cited by this paper
• Recent Developments in Identifying Genetic Determinants of Premature Ovarian Failure

  2008cited by this paper
• Peritubular Myoid Cells Are Not the Migrating Population Required for Testis Cord Formation in the XY Gonad

  2008cited by this paper
• Cytogenetic screening of livestock populations in Europe: an overview

  2008influential reference
• A case of an intersex horse with 63,X/64,XX/65,XX,del(Y)(q?) karyotype

  2008cited by this paper
• Up‐regulation of SOX9 in human sex‐determining region on the Y chromosome (SRY)‐negative XX males

  2008cited by this paper
• Stabilization of beta-catenin in XY gonads causes male-to-female sex-reversal.

  2008cited by this paper
• Finding of a bull with Y;17 translocation.

  2008cited by this paper
• Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer

  2008cited by this paper
• A single base pair mutation encoding a premature stop codon in the MIS type II receptor is responsible for canine persistent Müllerian duct syndrome.

  2008cited by this paper
• Four-dimensional analysis of vascularization during primary development of an organ, the gonad

  2008cited by this paper
• Equine clinical cytogenetics: the past and future

  2008cited by this paper
• Boys, girls and shuttling of SRY and SOX9.

  2008cited by this paper
• Potential applications of equine genomics in dissecting diseases and fertility.

  2008cited by this paper
• Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer

  2008cited by this paper
• Clinical, cytogenetic and molecular evaluation in a dog with bilateral cryptorchidism and hypospadias

  2008cited by this paper
• Sex chromosome abnormalities and sterility in river buffalo

  2008influential reference
• Testicular tumor in an XXY dog.

  2008cited by this paper
• Expression Profiles of SRY and SOX9 in Rabbit Gonads: The Classical Model of Mammalian Sex Differentiation

  2008cited by this paper
• R-spondin1 plays an essential role in ovarian development through positively regulating Wnt-4 signaling.

  2008influential reference
• Sexual development of the soma in the mouse.

  2008cited by this paper
• Highly effective SNP-based association mapping and management of recessive defects in livestock

  2008cited by this paper
• Meiotic studies in an azoospermic boar carrying a Y;14 translocation

  2008cited by this paper
• Activation of beta-catenin signaling by Rspo1 controls differentiation of the mammalian ovary.

  2008influential reference
• Application of arm-specific painting probes of horse X chromosome for karyotype analysis in an infertile Hutsul mare with 64,XX/65,XX+Xp karyotype: case report.

  2007cited by this paper
• Disorders of sexual development in the dog and cat.

  2007cited by this paper
• Sex determination and gonadal development in mammals.

  2007cited by this paper
• Diagnosis of bovine freemartinism by fluorescence in situ hybridization on interphase nuclei using a bovine Y chromosome-specific DNA probe.

  2007cited by this paper
• Expression of AMH in Female Fetal Intersex Gonads in the Bovine

  2007cited by this paper
• Linkage to CFA29 detected in a genome-wide linkage screen of a canine pedigree segregating Sry-negative XX sex reversal.

  2007cited by this paper
• Use of Somatic Cell Nuclear Transfer to Study Meiosis in Female Cattle Carrying A Sex-Dependent Fertility-Impairing X-Chromosome Abnormality

  2007cited by this paper
• SRY negative 64,XX intersex phenotype in an American saddlebred horse.

  2007cited by this paper
• [Intersexuality in horses].

  2007cited by this paper
• Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome.

  2007cited by this paper
• Karyotype evaluation among young horse populations in Poland.

  2007cited by this paper
• Consensus Statement on Management of Intersex Disorders

  2006cited by this paper
• Genetics, genomics, and molecular biology of sex determination in small animals.

  2006cited by this paper
• Expression profiling of purified mouse gonadal somatic cells during the critical time window of sex determination reveals novel candidate genes for human sexual dysgenesis syndromes.

  2006cited by this paper
• Novel cytogenetic finding: an unusual X;X-translocation in Mehsana buffalo (Bubalus bubalis)

  2006cited by this paper
• R-spondin1 is essential in sex determination, skin differentiation and malignancy

  2006cited by this paper
• Consensus statement on management of intersex disorders. International Consensus Conference on Intersex.

  2006cited by this paper
• Clinical and cytogenetic studies in intersex ewes

  2006cited by this paper
• FOXL2 activates P450 aromatase gene transcription: towards a better characterization of the early steps of mammalian ovarian development.

  2006cited by this paper
• Fgf9 and Wnt4 Act as Antagonistic Signals to Regulate Mammalian Sex Determination

  2006cited by this paper
• Mouse Cristin/R-spondin Family Proteins Are Novel Ligands for the Frizzled 8 and LRP6 Receptors and Activate β-Catenin-dependent Gene Expression*

  2006cited by this paper
• Gene expression during sex determination reveals a robust female genetic program at the onset of ovarian development.

  2005cited by this paper
• Profiling Gene Expression During the Differentiation and Development of the Murine Embryonic Gonad1

  2005cited by this paper
• A splice variant of the Wilms' tumour suppressor Wt1 is required for normal development of the olfactory system

  2005cited by this paper
• Influence on spatiotemporal patterns of a male-specific Sox9 activation by ectopic Sry expression during early phases of testis differentiation in mice.

  2005cited by this paper
• The freemartin syndrome: an update.

  2005influential reference
• Delayed Sry and Sox9 expression in developing mouse gonads underlies B6-Y(DOM) sex reversal.

  2005cited by this paper
• Sertoli cell differentiation is induced both cell-autonomously and through prostaglandin signaling during mammalian sex determination.

  2005cited by this paper
• Male-specific cell migration into the developing gonad is a conserved process involving PDGF signalling.

  2005cited by this paper
• Chromosome evolution and improved cytogenetic maps of the Y chromosome in cattle, zebu, river buffalo, sheep and goat

  2005cited by this paper
• Sex reversal syndrome (64,XY; SRY-positive) in a mare demonstrating masculine behaviour.

  2005cited by this paper
• Sox9 is sufficient for functional testis development producing fertile male mice in the absence of Sry.

  2005cited by this paper
• Gonadal sex reversal in mutant Dax1 XY mice: a failure to upregulate Sox9 in pre-Sertoli cells

  2005cited by this paper
• Freemartinism in river buffalo: clinical and cytogenetic observations

  2004cited by this paper
• The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance

  2004cited by this paper
• Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development.

  2004cited by this paper
• SOX9 is up-regulated by the transient expression of SRY specifically in Sertoli cell precursors.

  2004cited by this paper
• Functional analysis of Sox8 and Sox9 during sex determination in the mouse

  2004cited by this paper
• Evidence on hereditary occurrence of placental anastomoses in heterosexual twins in sheep.

  2004cited by this paper
• Molecular analysis of an XY mare with gonadal dysgenesis.

  2004cited by this paper
• Nuclear receptors and disease: androgen receptor.

  2004cited by this paper
• Reproductive disturbances and sex chromosome abnormalities in two female river buffaloes

  2004cited by this paper
• Oocyte development in XO foetuses of man and mouse: the possible role of heterologous X-chromosome pairing in germ cell survival

  2004cited by this paper
• Analysis of the gonadal sex of five intersex pigs using Y chromosomal markers.

  2004cited by this paper
• Testis determination requires insulin receptor family function in mice

  2003cited by this paper
• Dax1 is required for testis determination

  2003cited by this paper
• A sporadic case of the sex-reversed mare (64,XY; SRY-negative): molecular and cytogenetic studies of the Y chromosome.

  2003cited by this paper
• Morphological, histological and histochemical studies of the gonads of ovine freemartins

  2003cited by this paper
• Sry and Sox9 expression during canine gonadal sex determination assayed by quantitative reverse transcription‐polymerase chain reaction

  2003influential reference
• Endothelial and steroidogenic cell migration are regulated by WNT4 in the developing mammalian gonad

  2003cited by this paper
• The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9].

  2003cited by this paper
• Genetic aspects of twinning in cattle.

  2002influential reference
• Molecular characterization and chromosome assignment of the porcine gene COX7A1 coding for the muscle specific cytochrome c oxidase subunit VIIa-M

  2002influential reference
• Animal Cytogenetics and Comparative Mapping

  2002influential reference
• Ontogenesis of female‐to‐male sex‐reversal in XX polled goats

  2002influential reference
• A pericentric inversion in the cattle Y chromosome

  2002cited by this paper
• A case of intersexuality in pigs associated with a de novo paracentric inversion 9 (p1.2; p2.2).

  2002cited by this paper
• Gonadal differentiation, sex determination and normal Sry expression in mice require direct interaction between transcription partners GATA4 and FOG2.

  2002cited by this paper
• A nuclear export signal within the high mobility group domain regulates the nucleocytoplasmic translocation of SOX9 during sexual determination

  2002cited by this paper
• Familial occurrence of pig intersexes (38,XX; SRY-negative) on a commercial fattening farm.

  2002cited by this paper
• The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

  2001cited by this paper
• Synaptic pattern of sex complements and sperm head malformation in X‐autosome translocation carrier bulls

  2001cited by this paper

• Infertility in an American Quarter Horse mare with cervical duplication.

  2026cites this paper
• Irregular reproductive cyclicity in a mare with a mosaic karyotype: 64,XX/64,XY/63,XO

  2025cites this paper
• A case of impaired fertility in a Large White boar with sex chromosome chimerism

  2024cites this paper
• Hydroallantois in a mare associated with schistosomus and unilateral ovarian agenesis in the fetus.

  2024cites this paper
• Molecular cytogenetic screening of sex chromosome abnormalities in young horse populations.

  2024cites this paper
• Anti-Müllerian hormone: A novel biomarker for detecting bovine freemartinism.

  2024cites this paper
• One-stage surgical case management of a two-year-old Arabian horse affected by male-pseudohermaphroditism.

  2024cites this paper
• The Use of Genomic Screening for the Detection of Chromosomal Abnormalities in the Domestic Horse: Five New Cases of 65,XXY Syndrome in the Pura Raza Español Breed

  2024cites this paper
• Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses

  2023cites this paper
• The study of a hermaphroditic sheep caused by a mutation in the promoter of SRY gene

  2023cites this paper
• Monorchidism in a phenotypic mare with a 64,XY, SRY-positive karyotype.

  2023cites this paper
• Characterisation of eight cattle with Swyer syndrome by whole-genome sequencing.

  2022cites this paper
• Chromosome Abnormalities and Fertility in Domestic Bovids: A Review

  2021cites this paper
• Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings

  2021cites this paper
• Intramural monolateral ectopic urether mininvasively treated in a 78, XX (SRY‐negative) ovotesticular defects in sexual development French Bulldog

  2021cites this paper
• Urogenital Hypoplasia and X Chromosome Monosomy in a Draft Horse Filly.

  2021cites this paper
• Sex Reversal Syndrome in an Egyptian Arabian Horse Detected Using Genomic Data - A case report.

  2021cites this paper
• FEMALE PSEUDOHERMAPHRODITISM IN A PUG DOG – DIAGNOSIS AND SURGICAL MANAGEMENT

  2021cites this paper
• FISH and Chimps: Insights into Frequency and Distribution of Sperm Aneuploidy in Chimpanzees (Pan troglodytes)

  2021cites this paper
• Two Doublesex1 mutants revealed a tunable gene network underlying intersexuality in Daphnia magna

  2020cites this paper
• A Case of Intersexuality in a Pig: Histological View

  2020cites this paper
• Late-onset vanishing testis-like syndrome in a 38,XX/38,XY agonadic pig (Sus scrofa).

  2020cites this paper
• Genetics of Equine Reproductive Diseases.

  2020cites this paper
• Identification and copy number profiling of sex chromosome specific gene fragments in crossbred pigs with numerically normal karyotype

  2020cites this paper
• Characterization of a Homozygous Deletion of Steroid Hormone Biosynthesis Genes in Horse Chromosome 29 as a Risk Factor for Disorders of Sex Development and Reproduction

  2020cites this paper
• Meiotic recombinaison analyses of individual chromosomes in male domestic pigs (sus scrofa domestica)

  2020cites this paper
• Cytogenetic Screening of Pigs

  2020cites this paper
• Breeding and Economic Aspects of Cytogenetic Screening Studies of Pigs Qualified for Reproduction

  2020cites this paper
• Cytogenetic Analyses in Ewes with Congenital Abnormalities of the Genital Apparatus

  2019cites this paper
• Mosaic Reciprocal Chromosome Translocations in Breeding Swine: Prevalence and Potential Biological Implications.

  2019influential citation
• Elevated incidence of freemartinism in pigs detected by droplet digital PCR and cytogenetic techniques

  2019cites this paper
• An Autosomal Translocation 73,XY,t(12;20)(q11;q11) in an Infertile Male Llama (Lama glama) With Teratozoospermia

  2019cites this paper
• Association between polymorphisms in the SOX9 region and canine disorder of sex development (78,XX; SRY-negative) revisited in a multibreed case-control study

  2019cites this paper
• A new molecular screening tool for the detection of chromosomal abnormalities in donkeys

  2019cites this paper
• Application of droplet digital PCR in diagnosing of X monosomy in mares.

  2019cites this paper
• Early Diagnostics of Freemartinism in Polish Holstein-Friesian Female Calves

  2019cites this paper
• Technical note: Droplet digital PCR as a new molecular method for a simple and reliable diagnosis of freemartinism in cattle.

  2019cites this paper
• Applying real-time quantitative PCR to diagnosis of freemartin in Holstein cattle by quantifying SRY gene: a comparison experiment

  2018cites this paper
• A high incidence of leukocyte chimerism (60,XX/60,XY) in single born heifers culled due to underdevelopment of internal reproductive tracts

  2018cites this paper
• Cytoscreening of Indigenous pigs for Numerical Chromosomal Abnormalities

  2018cites this paper
• Polymorphisms in the SOX9 region and testicular disorder of sex development (38,XX; SRY-negative) in pigs

  2017cites this paper
• Deep sequencing of a candidate region harboring the SOX9 gene for the canine XX disorder of sex development

  2017cites this paper
• Congenital Malformations in River Buffalo (Bubalus bubalis)

  2017cites this paper
• Sex chromosomal abnormalities associated with equine infertility: validation of a simple molecular screening tool in the Purebred Spanish Horse

  2017cites this paper
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  2017cites this paper
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  2017cites this paper
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  2016cites this paper
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  2016cites this paper
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  2016cites this paper
• Cytogenetic and Molecular Diagnostics of XX/XY Chimerism in Cattle, Sheep, and Goats – A Review

  2016cites this paper
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  2016cites this paper
• Chromosome Aberrations and Fertility Disorders in Domestic Animals.

  2016cites this paper
• Elevated testosterone levels in a racing horse due to an XY testicular disorder of sexual development.

  2015cites this paper
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  2014influential citation
• Ovarian dysgenesis in an alpaca with a minute chromosome 36.

  2014cites this paper
• Development and application of camelid molecular cytogenetic tools.

  2014cites this paper
• Cytogenetic analysis of somatic and germinal cells from 38,XX/38,XY phenotypically normal boars.

  2014cites this paper
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  2014cites this paper
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  2014cites this paper
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  2013cites this paper
• Cytogenetic investigations in sheep reared in Southern-Italy by using both chromosome banding and fish-mapping techniques.

  2013cites this paper
• Genomics of Reproduction and Fertility

  2013cites this paper
• The Y‐Chromosome

  2013cites this paper
• Theriogenology question of the month. Intersex syndrome.

  2013cites this paper
• Theriogenology Question of the Month In cooperation with

  2013cites this paper
• Advanced comparative cytogenetic analysis of X chromosomes in river buffalo, cattle, sheep, and human

  2012cites this paper
• Incompetent cervix and pneumouterus in a maiden mare

  2012cites this paper
• The Molecular Genetics of Sex Determination and Sex Reversal in Mammals

  2012cites this paper
• Disorders of Sexual Development and Abnormal Early Development in Domestic Food-Producing Mammals: The Role of Chromosome Abnormalities, Environment and Stress Factors

  2011cites this paper
• The Pseudoautosomal Region and Sex Chromosome Aneuploidies in Domestic Species

  2011cites this paper
• Disorders of Sexual Development in the Domestic Horse, Equus caballus

  2011cites this paper
• Disorders of Sexual Development in Wild and Captive Exotic Animals

  2011influential citation
• Low Levels of X-Inactive Specific Transcript in Somatic Cell Nuclear Transfer Embryos Derived from Female Bovine Freemartin Donor Cells

  2011cites this paper
• Clinical, genetic, and pathological features of male pseudohermaphroditism in dog

  2011cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011cites this paper
• Cytogenetic and Molecular Characterization of Y Isochromosome in a 63XO/64Xi(Yq) Mosaic Karyotype of an Intersex Horse

  2011cites this paper
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  2011cites this paper
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  2010cites this paper
• Numerical Sex Chromosome Aberrations and Abnormal Sex Development in Horse and Sheep

  2010cites this paper
• Molecular heterogeneity of XY sex reversal in horses.

  2010influential citation
• Meiotic Studies of a 38,XY/39,XXY Mosaic Boar

  2010cites this paper
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  2010cites this paper