(Q38492545)

3 September 2017

title

Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression (English)

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3 September 2017

Stankiewicz P

1

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3 September 2017

Thiele H

2

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3 September 2017

Giannakudis I

3

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3 September 2017

Schlicker M

4

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3 September 2017

Baldermann C

5

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3 September 2017

Krüger A

6

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3 September 2017

Dörr S

7

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3 September 2017

Starke H

8

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3 September 2017

Hansmann I

9

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3 September 2017

publication date

1 August 2001

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American Journal of Medical Genetics Part A

3 September 2017

published in

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3 September 2017

volume

102

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3 September 2017

issue

3

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3 September 2017

page(s)

286-292

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A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients

3 September 2017

cites work

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Three patients with ring (X) chromosomes and a severe phenotype

21 January 2018

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45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome

21 January 2018

1 reference

Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: ten new observations.

21 January 2018

1 reference

Molecular characterization of tiny ring X chromosomes from females with functional X chromosome disomy and lack of cis X inactivation.

21 January 2018

1 reference

45X/46X,r(X) with syndactyly and severe mental retardation.

21 January 2018

1 reference

Ectodermal abnormalities in Kabuki syndrome

21 January 2018

1 reference

Physical and genetic mapping of the human X chromosome centromere: repression of recombination

21 January 2018

1 reference

Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes

21 January 2018

1 reference

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients

21 January 2018

1 reference

Requirement for Xist in X chromosome inactivation

21 January 2018

1 reference

Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

21 January 2018

1 reference

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

21 January 2018

1 reference

Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation

21 January 2018

1 reference

Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome

21 January 2018

1 reference

Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome

21 January 2018

1 reference

Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome

21 January 2018

1 reference

XIST expression from the maternal X chromosome in human male preimplantation embryos at the blastocyst stage

21 January 2018

1 reference

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients

21 January 2018

1 reference

Dominant inheritance of Kabuki make-up syndrome

21 January 2018

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Characterization of a supernumerary small marker X chromosome in two females with similar phenotypes

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.1462

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3 September 2017

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