(Q51985004)

19 April 2018

title

Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3. (English)

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19 April 2018

main subject

Contiguous gene syndrome

1 reference

Spranger S

1

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19 April 2018

Schiller S

2

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19 April 2018

Jauch A

3

1 reference

19 April 2018

Wolff K

4

1 reference

19 April 2018

Rauterberg-Ruland I

5

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19 April 2018

Hager D

6

1 reference

19 April 2018

Tariverdian G

7

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19 April 2018

Tröger J

8

1 reference

19 April 2018

Rappold G

9

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19 April 2018

publication date

1 April 1999

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19 April 2018

American Journal of Medical Genetics Part A

published in

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19 April 2018

volume

83

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19 April 2018

issue

5

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19 April 2018

page(s)

367-371

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19 April 2018

Chondrodysplasia punctata with X;Y translocation

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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 of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome

21 January 2018

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SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

21 January 2018

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

21 January 2018

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A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval.

21 January 2018

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Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form

21 January 2018

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Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism

21 January 2018

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Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature

21 January 2018

1 reference

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

21 January 2018

1 reference

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X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.

21 January 2018

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Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and son.

21 January 2018

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Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

21 January 2018

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Specific metaphase and interphase detection of the breakpoint region in 8q24 of Burkitt lymphoma cells by triple-color fluorescence in situ hybridization

21 January 2018

1 reference

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Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Chromosome arm painting probes

21 January 2018

1 reference

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Are t(X;Y) (p22;q11) translocations in females frequently associated with Madelung deformity?

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990423%2983%3A5%3C367%3A%3AAID-AJMG5%3E3.0.CO%3B2-K

A ring X chromosome, 46,Y,r(X)(p22.33q28), as a cause of extreme short stature in a male

21 January 2018

1 reference

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Cytogenetic analysis by in situ hybridization with fluorescently labeled nucleic acid probes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990423%2983%3A5%3C367%3A%3AAID-AJMG5%3E3.0.CO%3B2-K

Short stature in a mother and daughter with terminal deletion of Xp22.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990423%2983%3A5%3C367%3A%3AAID-AJMG5%3E3.0.CO%3B2-K

10.1002/(SICI)1096-8628(19990423)83:5<367::AID-AJMG5>3.0.CO;2-K

21 January 2018

Identifiers

DOI

1 reference

19 April 2018

PubMed ID

10232745

1 reference

19 April 2018