Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region (Q33594192)

28 July 2017

title

Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region (English)

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28 July 2017

Ogata T

1

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28 July 2017

Goodfellow P

2

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28 July 2017

Petit C

3

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28 July 2017

Aya M

4

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28 July 2017

Matsuo N

5

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28 July 2017

language of work or name

English

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publication date

1 July 1992

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

29

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28 July 2017

issue

7

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28 July 2017

page(s)

455-459

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Gonadal and statural determinants on the X chromosome and their relationship to in vitro studies showing prolonged cell cycles in 45,X; 46,X,del(X)(p11); 46,X,del(X)(q13); and 46,X,del(X)(q22) fibroblasts

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

Premature menopause due to a small deletion in the long arm of the X chromosome: a report of three cases and a review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

A synopsis of the human Y chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

The role of Yp in sex determination: new evidence from X/Y translocations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

Brief clinical report: del(X) (q26) in a phenotypically normal woman and her daughter who also has trisomy 21.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. I

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

X inactivation in man: a woman with t(Xq--;12q+)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

Cytogenetic and clinical study on 100 cases of primary amenorrhoea

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

Physical mapping of genes and sequences at the end of the human X chromosome short arm.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

Fertility with deletion Xq25: report of three cases; possible exceptions for critical region hypothesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

An RFLP detecting single copy X-chromosome fragment, dic56, from Xp22-Xpter [HGM8 assignment no. DXS 143].

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

Linkage, physical mapping, and DNA sequence analysis of pseudoautosomal loci on the human X and Y chromosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

Physical mapping of the human pseudo-autosomal region; comparison with genetic linkage map.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

Long-range restriction map of the terminal part of the short arm of the human X chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

Gonadal dysgenesis and abnormalities of the human sex chromosomes: current status of phenotypic-karyotypic correlations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

[Karyotype-phenotype correlation in a 46,Xdel(X) (p22) diagnosis (author's transl)].

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

Replication pattern of the X chromosomes in three X/autosomal translocations.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

Follow-up on a human X-autosome translocation first studied in 1963 and 1964

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

Late replication and X-autosome traslocation a case with banding patterns autoradiographic and B.U.D.R. studies (author's transl)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

The phenotypic effects of small, distal Xq deletions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

The physical growth of Japanese children from birth to 18 years of age. Cross-sectional percentile growth curve for height and weight.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016018

Balanced X;15 translocation 46,X,t(X;15)(q21;q23) associated with primary amenorrhea

30 October 2018

1 reference

12 December 2020

Characterization of a panel of highly variable minisatellites cloned from human DNA

1 reference

12 December 2020

A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes

1 reference

12 December 2020

Effect of balanced X/autosome translocations on sexual and physical development. A personal experience in 4 patients

1 reference

12 December 2020

Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding

1 reference

12 December 2020

Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations

1 reference

12 December 2020

Fertility in patients with X chromosome deletions

1 reference

12 December 2020

Clinical and cytogenetic aspects of X-chromosome deletions

1 reference

12 December 2020

Translocation X;9(q24;q34) in a girl with ovary dysfunction

1 reference

12 December 2020

A rapid banding technique for human chromosomes

1 reference

12 December 2020

Improvement of trypsin method for banding chromosomes

1 reference

12 December 2020

An inhertited X‐autosome translocation in man

1 reference

12 December 2020

The essence of inactivity

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12 December 2020

A pseudoautosomal gene in man

1 reference

12 December 2020

A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination

1 reference

12 December 2020

Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes

1 reference

12 December 2020

Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal

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12 December 2020

Identifiers

PMC publication ID

1016018

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28 July 2017

1 reference