(Q53359397)

13 May 2018

title

The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects. (English)

1 reference

13 May 2018

4

Andrew Arai

1 reference

13 May 2018

author name string

Wuyan Chen

1

1 reference

13 May 2018

Mimi S Kim

2

1 reference

13 May 2018

Sujata Shanbhag

3

1 reference

13 May 2018

Carol VanRyzin

5

1 reference

13 May 2018

Nazli B McDonnell

6

1 reference

13 May 2018

Deborah P Merke

7

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13 May 2018

language of work or name

English

0 references

publication date

1 December 2009

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13 May 2018

American Journal of Medical Genetics

published in

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13 May 2018

volume

149A

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13 May 2018

issue

12

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13 May 2018

page(s)

2803-2808

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13 May 2018

Quadricuspid aortic valve with aortic insufficiency: case report and review of the literature

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963110

Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963110

Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963110

Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963110

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963110

Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease as

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963110

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963110

Tenascin-X deficiency is associated with Ehlers-Danlos syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963110

The distribution of tenascin-X is distinct and often reciprocal to that of tenascin-C

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963110

Embryonic expression of tenascin-X suggests a role in limb, muscle, and heart development

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963110

Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locus

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963110

Incidence, description and functional assessment of isolated quadricuspid aortic valves

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963110

Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963110

Three-dimensional echocardiographic evaluation of an incidental quadricuspid aortic valve

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963110

Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions

2 November 2018

1 reference

12 December 2020

A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X

1 reference

12 December 2020

A case of Ehlers-Danlos syndrome associated with cleft lip and palate

1 reference

12 December 2020

Familial Ehlers-Danlos syndrome type II: abnormal fibrillogenesis of dermal collagen

1 reference

12 December 2020

Ehlers-Danlos syndrome and congenital heart anomalies

1 reference

12 December 2020

Neurological involvement and quadricuspid aortic valve in a patient with Ehlers-Danlos syndrome

1 reference

12 December 2020

Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome

1 reference

12 December 2020

Congenital adrenal hyperplasia

1 reference

12 December 2020

Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes

1 reference

12 December 2020

Upper-tract genitourinary malformations in girls with congenital adrenal hyperplasia

1 reference

12 December 2020

Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies

1 reference

12 December 2020

Human complement components C4A and C4B genetic diversities: complex genotypes and phenotypes

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.33092

1 reference

13 May 2018

PMC publication ID

2963110

1 reference

13 May 2018

PubMed publication ID

19921645

1 reference

13 May 2018