(Q24671779)

English

True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case

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scholarly article

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True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case (English)

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somatic point mutation

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based on heuristic

inferred from title

ovotesticular disorder of sex development

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based on heuristic

inferred from title

author name string

A Braun

1

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S Kammerer

2

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H Cleve

3

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U Löhrs

4

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H P Schwarz

5

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U Kuhnle

6

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language of work or name

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publication date

March 1993

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American Journal of Human Genetics

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52

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3

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578-85

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Analytic review: nature and origin of males with XX sex chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

7 April 2017

ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

7 April 2017

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

7 April 2017

Familial case with sequence variant in the testis-determining region associated with two sex phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

7 April 2017

Direct regional assignment of the gene for vitamin D binding protein (Gc-globulin) to human chromosome 4q11-q13 and identification of an associated DNA polymorphism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

7 April 2017

Molecular analysis of the gene for the human vitamin-D-binding protein (group-specific component): allelic differences of the common genetic GC types

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

7 April 2017

A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

7 April 2017

TRUE HERMAPHRODITES IN JAPAN. REPORT OF A CASE AND REVIEW OF THE LITERATURE

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

28 September 2017

True hermaphroditism. A review of 41 cases with observations on testicular histology and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

28 September 2017

The sex-determining region of the human Y chromosome encodes a finger protein.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

28 September 2017

Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

28 September 2017

Small deletions of the short arm of the Y chromosome in 46,XY females

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

28 September 2017

XX true hermaphroditism in southern African blacks: an enigma of primary sexual differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

28 September 2017

Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

28 September 2017

The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

28 September 2017

Optimal conditions for directly sequencing double-stranded PCR products with sequenase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

28 September 2017

A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

28 September 2017

Expression of a candidate sex-determining gene during mouse testis differentiation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

28 September 2017

Genetic evidence equating SRY and the testis-determining factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

28 September 2017

Use of probes for ZFY, SRY, and the Y pseudoautosomal boundary in XX males, XX true hermaphrodites, and an XY female

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

28 September 2017

Familial 46,XX males coexisting with familial 46,XX true hermaphrodites in same pedigree

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

28 September 2017

Is true hermaphroditism a primary germ cell disorder?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

28 September 2017

The gonads of human true hermaphrodites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

30 May 2018

Zfy gene expression patterns are not compatible with a primary role in mouse sex determination.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

30 May 2018

Male pseudohermaphroditism: a hitherto undescribed form.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

28 November 2018

Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682159

28 November 2018

PCR detection of distal Yp sequences in an XX true hermaphrodite

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial true hermaphrodism

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of true hermaphroditism

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternal Transmission of Maleness in XX Human Beings

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic evidence that ZFY is not the testis-determining factor

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A possible common origin of "Y-negative" human XX males and XX true hermaphrodites

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

What makes a man a man?

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PubMed publication ID

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