(Q54590326)

1 June 2018

title

TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly. (English)

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1 June 2018

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1

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1 June 2018

Pawel Stankiewicz

8

object named as

Pawel Stankiewicz

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1 June 2018

author name string

Katarzyna E Kolodziejska

2

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1 June 2018

Michael M Quach

3

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1 June 2018

Varina Louise Wolf

4

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1 June 2018

Sau Wai Cheung

5

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1 June 2018

Seema R Lalani

6

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1 June 2018

Melissa B Ramocki

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1 June 2018

language of work or name

English

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publication date

12 May 2011

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1 June 2018

American Journal of Medical Genetics

published in

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1 June 2018

volume

155A

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1 June 2018

issue

6

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1 June 2018

page(s)

1442-1447

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1 June 2018

The TGFβ type II receptor plays a critical role in the endothelial cells during cardiac development

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

TGF-beta in the pathogenesis and prevention of disease: a matter of aneurysmic proportions

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

Origins and functional impact of copy number variation in the human genome

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

Tgfbr2 is required for development of the skull vault

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

Copy number variation and mosaicism.

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

Copy-number variation in control population cohorts

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

Aneurysm syndromes caused by mutations in the TGF-beta receptor

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

Widespread correlations between dominance and homozygous effects of mutations: implications for theories of dominance

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

Heterozygous TGFBR2 mutations in Marfan syndrome

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

Mechanisms of TGF-beta signaling from cell membrane to the nucleus

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

TGF-beta receptor type II deficiency results in defects of yolk sac hematopoiesis and vasculogenesis

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS).

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646644

Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome

13 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.34015

Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?

21 January 2018

1 reference

12 December 2020

Rapid aneurysmal degeneration of a Stanford type B aortic dissection in a patient with Loeys-Dietz syndrome

1 reference

12 December 2020

Somatic mosaicism for copy number variation in differentiated human tissues

1 reference

12 December 2020

Partial serial duplication of the short arm of chromosome 3

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.34015

1 reference

1 June 2018

PMC publication ID

3646644

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1 June 2018

PubMed publication ID

21567932

1 reference

1 June 2018