XY sex reversal and gonadal dysgenesis due to 9p24 monosomy.

No abstract is available for this paper.

• Publication year

  1997

• Venue

  American journal of medical genetics

• Publication date

  1997-12-19

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/(SICI)1096-8628(19971219)73:3<321::AID-AJMG17>3.0.CO;2-LPMID 9415692
• 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.

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  2004cited by this paper
• Sex–determining genes on mouse autosomes identified by linkage analysis of C57BL/6J–YPOS sex reversal

  1996cited by this paper
• Sex reversal in a child with the karyotype 46, XY, dup (1) (p22.3p32.3)

  1996cited by this paper
• Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.

  1994cited by this paper
• Nuclear receptor steroidogenic factor 1 regulates the müllerian inhibiting substance gene: a link to the sex determination cascade.

  1994cited by this paper
• A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

  1994cited by this paper
• Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review.

  1993cited by this paper
• Deletion 9p and sex reversal.

  1993cited by this paper
• Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal

  1992cited by this paper
• Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.

  1991cited by this paper
• A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

  1990cited by this paper
• Normal testis determination in the mouse depends on genetic interaction of a locus on chromosome 17 and the Y chromosome.

  1989cited by this paper
• An unbalanced autosomal translocation (7;9) associated with feminization

  1988cited by this paper
• Eleven new cases of del(9p) and features from 80 cases.

  1988influential reference
• Trisomy 8p by malsegregation of a t(5;8)(p15;p11)mat in a case of XY pure gonadal dysgenesis.

  1988cited by this paper
• Double autosomal chromosomal aberration (3p trisomy/9p monosomy) and sex-reversal.

  1986cited by this paper
• H-Y antigen in 46,XY pure testicular dysgenesis.

  1979cited by this paper
• A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21)

  1976cited by this paper
• Gonadoblastoma. A review of 74 cases

  1970cited by this paper

• Transcriptome Analysis Identifies Doublesex and Mab-3 Related Transcription Factor (DMRT3) in Nasal Polyp Epithelial Cells of Patients Suffering from Non-Steroidal Anti-Inflammatory Drug-Exacerbated Respiratory Disease (AERD)

  2021cites this paper
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  2021cites this paper
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  2020cites this paper
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  2019cites this paper
• Diagnosis of disorders of sex development ( DSDs ) : impact of molecular diagnostics on clinical practice

  2017cites this paper
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  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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  2015cites this paper
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  2015cites this paper
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  2015cites this paper
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  2015cites this paper
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  2014cites this paper
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  2013cites this paper
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  2013cites this paper
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  2013cites this paper
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  2012cites this paper
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  2012cites this paper
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  2012cites this paper
• Control genético del desarrollo gonadal de Talpa occidentalis

  2011cites this paper
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  2011cites this paper
• Régions de susceptibilité dans les remaniements du chromosome Y et mosaïcisme : facteurs de risque du développement sexuel anormal

  2011cites this paper
• Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization

  2011cites this paper
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  2010cites this paper
• [Chromosome 9P deletion: Gonadal dysgenesis associated with mental retardation and hypoplasia of the corpus callosum: A contiguous gene syndrome?].

  2010cites this paper
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  2010cites this paper
• Częściowa monosomia ramienia krótkiego chromosomu 9 u siedmiomiesięcznej dziewczynki – opis przypadku

  2007cites this paper
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  2007cites this paper
• [Psychosexual aspects of intersex syndromes].

  2006cites this paper
• Disgerminoma y síndrome de Swyer

  2006cites this paper
• Regulation of Sexual Dimorphism: Mutational and Chemogenetic Analysis of the Doublesex DM Domain

  2006cites this paper
• Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene.

  2006cites this paper
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  2006cites this paper
• Gonad Differentiation Genetics

  2006cites this paper
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  2005cites this paper
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  2005cites this paper
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  2004cites this paper
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  2004cites this paper
• [Molecular mechanisms in sex determination: from gene regulation to pathology].

  2004cites this paper
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  2004cites this paper
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  2003cites this paper
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  2003cites this paper
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  2002cites this paper
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  2002cites this paper
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  2002cites this paper
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  2002cites this paper
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  2000cites this paper
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  2000influential citation
• Sexual dimorphism in diverse metazoans is regulated by a novel class of intertwined zinc fingers.

  2000influential citation
• Deletion of the Dm-Domain Gene Cluster in a Fetus with Ring Chromosome 9 and Sex Reversal

  2000cites this paper
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  1999cites this paper
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  1999cites this paper
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  1999cites this paper
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  1999cites this paper
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  1999cites this paper
• Gene interactions in gonadal development.

  1999cites this paper
• Gonadoblastoma con transformación a disgerminoma ovárico. A propósito de dos casos

  1999cites this paper
• Molecular analysis of 9p deletions associated with XY sex reversal: refining the localization of a sex-determining gene to the tip of the chromosome.

  1998cites this paper
• Evidence for evolutionary conservation of sex-determining genes

  1998cites this paper
• Mammalian sex determination: from gonads to brain.

  1998cites this paper
• MINIREVIEW Mammalian Sex Determination: From Gonads to Brain

  1998cites this paper
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  1998cites this paper
• Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome.

  1998cites this paper
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  year unknowncites this paper