(Q52001442)

19 April 2018

title

Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST. (English)

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19 April 2018

author

Andrew R. Zinn

6

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19 April 2018

author name string

Guillén DR

1

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19 April 2018

Lowichik A

2

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19 April 2018

Schneider NR

3

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19 April 2018

Cohen DS

4

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19 April 2018

Garcia S

5

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19 April 2018

publication date

1 May 1997

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19 April 2018

American Journal of Medical Genetics Part A

published in

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19 April 2018

volume

70

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19 April 2018

issue

1

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19 April 2018

page(s)

32-36

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19 April 2018

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

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A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome

21 January 2018

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The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus

21 January 2018

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Localization of the X inactivation centre on the human X chromosome in Xq13.

21 January 2018

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Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46X,+mar: additional support for the loss of the X-inactivation center hypothesis

21 January 2018

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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

21 January 2018

1 reference

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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

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

21 January 2018

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Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype

21 January 2018

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Gene action in the X-chromosome of the mouse (Mus musculus L.)

21 January 2018

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

21 January 2018

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Urethral obstruction malformation complex: A cause of abdominal muscle deficiency and the “prune belly”

21 January 2018

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Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 cases

21 January 2018

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

21 January 2018

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Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq

21 January 2018

1 reference

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Prune belly syndrome in females: a triad of abdominal musculature deficiency and anomalies of the urinary and genital systems

21 January 2018

1 reference

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VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance

21 January 2018

1 reference

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10.1002/(SICI)1096-8628(19970502)70:1<32::AID-AJMG7>3.0.CO;2-T

21 January 2018

Identifiers

DOI

1 reference

19 April 2018

1 reference

19 April 2018