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6 in total

1. Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.

Authors: David R Goudie; Mariella D'Alessandro; Barry Merriman; Hane Lee; Ildikó Szeverényi; Stuart Avery; Brian D O'Connor; Stanley F Nelson; Stephanie E Coats; Arlene Stewart; Lesley Christie; Gabriella Pichert; Jean Friedel; Ian Hayes; Nigel Burrows; Sean Whittaker; Anne-Marie Gerdes; Sigurd Broesby-Olsen; Malcolm A Ferguson-Smith; Chandra Verma; Declan P Lunny; Bruno Reversade; E Birgitte Lane
Journal: Nat Genet Date: 2011-02-27 Impact factor: 38.330

2. Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?

Authors: Christopher P Barnett; David Chitayat; Timothy J Bradley; Yanting Wang; Aleksander Hinek
Journal: Eur J Hum Genet Date: 2011-01-26 Impact factor: 4.246

Review 6. Multiple Self-Healing Squamous Epithelioma (MSSE): A Digenic Trait Associated with Loss of Function Mutations in TGFBR1 and Variants at a Second Linked Locus on the Long Arm of Chromosome 9.

Authors: David Goudie
Journal: Genes (Basel) Date: 2020-11-26 Impact factor: 4.096

6 in total

Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype.

1. Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.

2. Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?

3. A patient with Loeys-Dietz syndrome treated with chemoradiotherapy for an oropharyngeal carcinoma.

4. Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

5. Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.

Review 6. Multiple Self-Healing Squamous Epithelioma (MSSE): A Digenic Trait Associated with Loss of Function Mutations in TGFBR1 and Variants at a Second Linked Locus on the Long Arm of Chromosome 9.