A high resolution deletion map of human chromosome Xp22. (Q41544332)

3 October 2017

title

A high resolution deletion map of human chromosome Xp22. (English)

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3 October 2017

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3 October 2017

Zoghbi HY

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3 October 2017

Schaefer L

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3 October 2017

Ferrero GB

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3 October 2017

Grillo A

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3 October 2017

Roth EJ

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3 October 2017

Wapenaar MC

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3 October 2017

van Ommen GJ

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3 October 2017

Mohandas TK

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3 October 2017

Rocchi M

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3 October 2017

Ballabio A

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3 October 2017

language of work or name

English

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publication date

1 July 1993

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3 October 2017

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3 October 2017

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3 October 2017

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3 October 2017

page(s)

272-279

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A second-generation linkage map of the human genome

3 October 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

Identification of deletion mutations and three new genes at the familial polyposis locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

Putative transcription activator with alternative isoforms encoded by human ZFX gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

A familial X/Y translocation in a boy with ichthyosis, hypogonadism and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

Contiguous gene syndromes: a component of recognizable syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Contiguous deletion syndromes.

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Genetic mapping of four DNA markers (DXS16, DXS43, DXS85, and DXS143) from the p22 region of the human X chromosome

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

The human Y chromosome: a 43-interval map based on naturally occurring deletions

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

The human Y chromosome: overlapping DNA clones spanning the euchromatic region

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Identification and isolation of transcribed human X chromosome DNA sequences

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene.

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

The X-Y homologous gene amelogenin maps to the short arms of both the X and Y chromosomes and is highly conserved in primates

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Directed isolation of human genes that escape X inactivation

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Polymorphisms in the human X-linked pyruvate dehydrogenase E1 alpha gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Physical mapping of 14 new DNA markers isolated from the human distal Xp region

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Linkage analysis in X-linked ocular albinism

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Genetic mapping of X linked ocular albinism: linkage analysis in British families

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Focal dermal hypoplasia

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Yq

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

X/Y translocations resulting from recombination between homologous sequences on Xp and Yq.

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Kallmann syndrome due to a translocation resulting in an X/Y fusion gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency.

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Sixty-five radiation hybrids for the short arm of human chromosome 6: Their value as a mapping panel and as a source for rapid isolation of new probes using repeat element-mediated PCR

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Somatic cell hybrid studies of fragile (X) expression in a carrier female and transmitting male

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Vector-Alu PCR: a rapid step in mapping cosmids and YACs

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Isolation of genomic clones homologous to transcribed sequences from human X chromosome

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Isolation and characterization of a family of sequences dispersed on the human X chromosome

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency).

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

An XX male with a single STS gene dose

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

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

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

De novo X;Y translocation associated with imperforate anus and retinal pigmentary abnormalities.

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Physical mapping of loci in the distal half of the short arm of the human X chromosome: Implications for the spreading of X-chromosome inactivation

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Assignment of cathepsin E (CTSE) to human chromosome region 1q31 by in situ hybridization and analysis of somatic cell hybrids

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Identification of new markers in Xp21 between DXS28 (C7) and DMD

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-272

7 January 2021

Identifiers

DOI

10.1038/NG0793-272

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Dimensions Publication ID

3 October 2017

1043558677

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1 reference