(Q38667753)

5 September 2017

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes (English)

1 reference

5 September 2017

1 reference

7

1 reference

5 September 2017

6

Anne De Paepe

0 references

author name string

Mine Arslan-Kirchner

1

1 reference

5 September 2017

Jörg T Epplen

2

1 reference

5 September 2017

Laurence Faivre

3

1 reference

5 September 2017

Guillaume Jondeau

4

1 reference

5 September 2017

Jörg Schmidtke

5

1 reference

5 September 2017

language of work or name

1 reference

27 April 2011

1 reference

European Journal of Human Genetics

5 September 2017

1 reference

5 September 2017

19

1 reference

5 September 2017

10

1 reference

5 September 2017

1082-1089

1 reference

Aneurysm syndromes caused by mutations in the TGF-beta receptor

5 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190257

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190257

Heterozygous TGFBR2 mutations in Marfan syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190257

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190257

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190257

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190257

Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190257

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190257

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190257

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190257

Molecular pathology of Shprintzen-Goldberg syndrome

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190257

Response to Kosaki et al. “Molecular pathology of Shprintzen-Goldberg syndrome”

31 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.68

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.68

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21522183

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21522183

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2011.68

1 reference

5 September 2017

1 reference

5 September 2017

PubMed publication ID

21522183

1 reference