Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. - Test2 - elhamkhani - TriplyDB

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

http://www.wikidata.org/entity/Q35205978

about

Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin The molecular genetics of Marfan syndrome and related disorders Absence of autoantibodies against correctly folded recombinant fibrillin-1 protein in systemic sclerosis patients Corneal stroma microfibrils Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review Marfan syndrome: An eyesight of syndrome The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis.Aplysia temptin - the 'glue' in the water-borne attractin pheromone complex.A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene Heterozygous TGFBR2 mutations in Marfan syndrome A prospective, randomized, placebo-controlled, double-blind, multicenter study of the effects of irbesartan on aortic dilatation in Marfan syndrome (AIMS trial): study protocol.Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.Human Splicing Finder: an online bioinformatics tool to predict splicing signals.The revised role of TGF-β in aortic aneurysms in Marfan syndrome Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.Preventing the aortic complications of Marfan syndrome: a case-example of translational genomic medicine C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family.Left ventricular systolic dysfunction in asymptomatic Marfan syndrome patients is related to the severity of gene mutation: insights from the novel three dimensional speckle tracking echocardiography.A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study Two novel mutations of FBN1 in Jordanian patients with Marfan syndrome Fibrillin-containing microfibrils are key signal relay stations for cell function.Development, composition, and structural arrangements of the ciliary zonule of the mouse Structure of the Elastin-Contractile Units in the Thoracic Aorta and How Genes That Cause Thoracic Aortic Aneurysms and Dissections Disrupt This Structure Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation Experimental in vivo and ex vivo models for the study of human aortic dissection: promises and challenges Like Father, Like Daughter-inherited cutis aplasia occurring in a family with Marfan syndrome: a case report.TGFβ signaling and cardiovascular diseases.

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P2860

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

http://www.wikidata.org/entity/Q35205978

description

2003 nî lūn-bûn

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2003 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

@zh-hk

2003年論文

@zh-mo

2003年論文

@zh-tw

2003年论文

@wuu

name

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

@ast

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

@en

type

label

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

@ast

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

@en

prefLabel

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

@ast

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

@en

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P1476

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

@en

P2093

Anne Child

http://www.w3.org/2001/XMLSchema#string

Beat Steinmann

http://www.w3.org/2001/XMLSchema#string

Claudine Junien

http://www.w3.org/2001/XMLSchema#string

Ilkka Kaitila

http://www.w3.org/2001/XMLSchema#string

James C Hyland

http://www.w3.org/2001/XMLSchema#string

Katerine Holman

http://www.w3.org/2001/XMLSchema#string

Leena Ala-Kokko

http://www.w3.org/2001/XMLSchema#string

Lesley Ades

http://www.w3.org/2001/XMLSchema#string

Lieve Nuytinck

http://www.w3.org/2001/XMLSchema#string

Maureen Boxer

http://www.w3.org/2001/XMLSchema#string

P2860

A recurring FBN1 gene mutation in neonatal Marfan syndrome.

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199-208

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scholarly article

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10.1002/HUMU.10249

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3

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22

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Leena Peltonen-Palotie

Catherine Boileau

Gwenaëlle Collod-Béroud

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2003-09-01T00:00:00Z

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10598628

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12938084

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P921