(Q57339601)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2370057%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

title

An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2370057%20AND%20SRC:MED&resulttype=core&format=json

X-linked recessive chondrodysplasia punctata

28 September 2019

main subject

0 references

author

Christine Petit

1

1 reference

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28 September 2019

author name string

J Melki

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2370057%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

J Levilliers

3

1 reference

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28 September 2019

F Serville

4

1 reference

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28 September 2019

J Weissenbach

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2370057%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

P Maroteaux

6

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28 September 2019

publication date

1 July 1990

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28 September 2019

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28 September 2019

volume

85

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28 September 2019

issue

2

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28 September 2019

page(s)

247-250

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https://scigraph.springernature.com/pub.10.1007/bf00193206

28 September 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal

1 reference

12 December 2020

X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome

1 reference

12 December 2020

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

1 reference

12 December 2020

Report of the committee on the genetic constitution of the X chromosome

1 reference

12 December 2020

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

12 December 2020

Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form

1 reference

12 December 2020

Chondrodysplasia punctata with X;Y translocation

1 reference

12 December 2020

Tooth sizes in two males with deletions of the long arm of the Y-chromosome

1 reference

12 December 2020

A DNA fragment from the human X chromosome short arm which detects a partially homologous sequence on the Y chromosomes long arm.

1 reference

12 December 2020

An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolation of sequences from Xp22.3 and deletion mapping using sex chromosome rearrangements from human X-Y interchange sex reversals

1 reference

12 December 2020

Deletion of the pseudoautosomal region and lack of sex-chromosome pairing at pachytene in two infertile men carrying an X;Y translocation

1 reference

12 December 2020

X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene

1 reference

12 December 2020

An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry

1 reference

12 December 2020

Recombination between the X and Y chromosomes: implications for the relationship between MIC2, XG and YG

1 reference

12 December 2020

An extremely polymorphic locus on the short arm of the human X chromosome with homology to the long arm of the Y chromosome

1 reference

12 December 2020

Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00193206

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2370057%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

1 reference