(Q52007490)

19 April 2018

title

Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus. (English)

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19 April 2018

author

Koji Muroya

1

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19 April 2018

author name string

T Ogata

2

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19 April 2018

N Matsuo

3

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19 April 2018

T Nagai

4

1 reference

19 April 2018

B Franco

5

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19 April 2018

A Ballabio

6

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19 April 2018

G Rappold

7

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19 April 2018

N Sakura

8

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19 April 2018

Y Fukushima

9

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19 April 2018

publication date

1 September 1996

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19 April 2018

American Journal of Medical Genetics Part A

published in

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19 April 2018

volume

64

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19 April 2018

issue

4

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19 April 2018

page(s)

583-587

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19 April 2018

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

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

21 January 2018

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

21 January 2018

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Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

21 January 2018

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Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis

21 January 2018

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Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase

21 January 2018

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

21 January 2018

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A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

21 January 2018

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Development and physical analysis of YAC contigs covering 7 Mb of Xp22.3-p22.2.

21 January 2018

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Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy

21 January 2018

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The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability

21 January 2018

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X-linked ocular albinism. Characteristic pattern of affection in female carriers

21 January 2018

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Direct isolation of the functional human thymidine kinase gene with a cosmid shuttle vector

21 January 2018

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Isolation of a new gene GS2 (DXS1283E) from a CpG island between STS and KAL1 on Xp22.3.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Chromosomal localisation of a pseudoautosomal growth gene(s)

21 January 2018

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Long-range physical mapping around the human steroid sulfatase locus

21 January 2018

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A high resolution deletion map of human chromosome Xp22.

21 January 2018

1 reference

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Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region

21 January 2018

1 reference

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A gene from the Xp22.3 region shares homology with voltage-gated chloride channels

21 January 2018

1 reference

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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

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Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation

21 January 2018

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An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3–Xp21.3

21 January 2018

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Interrelation of the therapeutic effects of growth hormone and testosterone on growth in hypopituitarism

21 January 2018

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

21 January 2018

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Enzymatic diagnosis of steroid sulfatase deficiency by high performance liquid chromatography

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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10.1002/(SICI)1096-8628(19960906)64:4<583::AID-AJMG11>3.0.CO;2-D

21 January 2018

Identifiers

DOI

1 reference

19 April 2018

1 reference

19 April 2018