(Q33677800)

English

A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities

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scholarly article

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Europe PubMed Central

PubMed publication ID

28 July 2017

A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

congenital disorder

0 references

1 reference

based on heuristic

inferred from title

author name string

Telvi L

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Ion A

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Carel JC

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Desguerre I

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Piraud M

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Boutin AM

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Feingold J

7

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Ponsot G

8

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Fellous M

9

1 reference

Europe PubMed Central

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28 July 2017

McElreavey K

10

1 reference

Europe PubMed Central

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28 July 2017

language of work or name

0 references

publication date

1 September 1996

1 reference

Europe PubMed Central

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28 July 2017

Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

28 July 2017

33

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

767-771

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Partial disomy of Xp and the presence of SRY in a phenotypic female

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050733

21 June 2018

Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050733

21 June 2018

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050733

21 June 2018

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050733

21 June 2018

Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050733

21 June 2018

Inherited partial X chromosome duplication in a mentally retarded male

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050733

21 June 2018

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=1050733

21 June 2018

X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050733

21 June 2018

Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050733

21 June 2018

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050733

21 June 2018

Probable inverted tandem duplication of Xp in a 46,Xp+Y boy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8880579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq

1 reference

https://pubmed.ncbi.nlm.nih.gov/8880579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SRVX, a sex reversing locus in Xp21.2-->p22.11

1 reference

https://pubmed.ncbi.nlm.nih.gov/8880579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gonadal dysgenesis in del(18p) syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8880579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/8880579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked recessive ichthyosis. Enzymatic diagnosis of affected males and female carriers

1 reference

https://pubmed.ncbi.nlm.nih.gov/8880579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.33.9.767

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

0 references

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