Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of diseaseMutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertensionMutation study of Spanish patients with hereditary hemorrhagic telangiectasiaGenotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique.Endoglin in liver fibrogenesis: Bridging basic science and clinical practiceHereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia.Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathwayPulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease).SMAD4 mutations found in unselected HHT patients.Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia.Functional analysis of saxophone, the Drosophila gene encoding the BMP type I receptor ortholog of human ALK1/ACVRL1 and ACVR1/ALK2.TGF-β Family Signaling in Connective Tissue and Skeletal Diseases.Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences.Mucocutaneous Telangiectasia as a Diagnostic Clue of Hereditary Hemorrhagic Telangiectasia: An Activin Receptor-Like Kinase-1 Mutation in a Korean Patient.Prevalence of hereditary hemorrhagic telangiectasia in patients operated for cerebral abscess: a retrospective cohort analysis.Hereditary connective tissue diseases in young adult stroke: a comprehensive synthesis.Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutationsGenotype-phenotype relationship in hereditary haemorrhagic telangiectasia.National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.Liver transplantation for hereditary hemorrhagic telangiectasia: Report of the European liver transplant registry.Hereditary hemorrhagic telangiectasia in Japanese patients.Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.Tacrolimus rescues the signaling and gene expression signature of endothelial ALK1 loss-of-function and improves HHT vascular pathology.Screening for children from families with Rendu-Osler-Weber disease: from geneticist to clinician.ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension.Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.
P2860
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P2860
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh-hant
name
Molecular screening of ALK1/AC ...... agic telangiectasia in France.
@en
Molecular screening of ALK1/AC ...... agic telangiectasia in France.
@nl
type
label
Molecular screening of ALK1/AC ...... agic telangiectasia in France.
@en
Molecular screening of ALK1/AC ...... agic telangiectasia in France.
@nl
prefLabel
Molecular screening of ALK1/AC ...... agic telangiectasia in France.
@en
Molecular screening of ALK1/AC ...... agic telangiectasia in France.
@nl
P2093
P2860
P356
P1433
P1476
Molecular screening of ALK1/AC ...... agic telangiectasia in France.
@en
P2093
Alain Calender
Bruno Leheup
Cyril Goizet
Florence Coulet
Florent Soubrier
French Rendu-Osler Network
Gaëtan Lesca
Ghislaine Plessis
Henri Plauchu
Jean-François Cordier
P2860
P304
P356
10.1002/HUMU.20017
P577
2004-04-01T00:00:00Z