Hypotonie musculaire < Hypotrichose < Hypoxie

Facettes : Author.f AffPays.f AffRegion.f AffVille.f AffOrg.f KwdFr.f Mesh.f MeshFr.f

List of bibliographic references indexed by Hypotrichose

Number of relevant bibliographic references: 9.

Ident.	Authors (with country if any)	Title
001406 (2016)	Florian Wünnemann [Allemagne] ; Victor Kokta [Canada] ; Séverine Leclerc [Canada] ; Maryse Thibeault [Canada] ; Catherine Mccuaig [Canada] ; Afshin Hatami [Canada] ; Chantal Stheneur [Canada] ; Jean-Christophe Grenier [Canada] ; Philip Awadalla [Canada] ; Grant A. Mitchell [Canada] ; Gregor Andelfinger [Canada] ; Christoph Preuss [Canada]	Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome.
001501 (2016)	Fatma Bastaki [Émirats arabes unis] ; Madiha Mohamed [Émirats arabes unis] ; Pratibha Nair [Émirats arabes unis] ; Fatima Saif [Émirats arabes unis] ; Nafisa Tawfiq [Émirats arabes unis] ; Mahmoud Taleb Al-Ali [Émirats arabes unis] ; Oliver Brandau [Allemagne] ; Abdul Rezzak Hamzeh [Émirats arabes unis]	A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.
001C99 (2015)	S. Moalem ; P. Brouillard ; D. Kuypers ; E. Legius ; E. Harvey ; G. Taylor ; M. Francois ; M. Vikkula ; D. Chitayat	Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene.
002D38 (2014)	Joëlle Kartopawiro [Australie] ; Neil I. Bower ; Tara Karnezis ; Jan Kazenwadel ; Kelly L. Betterman ; Emmanuelle Lesieur ; Katarzyna Koltowska ; Jonathan Astin ; Philip Crosier ; Sonja Vermeren ; Marc G. Achen ; Steven A. Stacker ; Kelly A. Smith ; Natasha L. Harvey ; Mathias François ; Benjamin M. Hogan	Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular development.
006021 (2009)	Brett Hosking [Australie] ; Mathias François ; Dagmar Wilhelm ; Fabrizio Orsenigo ; Andrea Caprini ; Terje Svingen ; Desmond Tutt ; Tara Davidson ; Catherine Browne ; Elisabetta Dejana ; Peter Koopman	Sox7 and Sox17 are strain-specific modifiers of the lymphangiogenic defects caused by Sox18 dysfunction in mice.
006445 (2009)	Meredith Downes ; Mathias Franois ; Charles Ferguson [Australie] ; Robert G. Parton [Australie] ; Peter Koopman [Australie]	Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation
006934 (2008)	Mathias François [Australie] ; Andrea Caprini ; Brett Hosking ; Fabrizio Orsenigo ; Dagmar Wilhelm ; Catherine Browne ; Karri Paavonen ; Tara Karnezis ; Ramin Shayan ; Meredith Downes ; Tara Davidson ; Desmond Tutt ; Kathryn S E. Cheah ; Steven A. Stacker ; George E O. Muscat ; Marc G. Achen ; Elisabetta Dejana ; Peter Koopman	Sox18 induces development of the lymphatic vasculature in mice.
009255 (2003)	Alexandre Irrthum [États-Unis] ; Koenraad Devriendt [Belgique] ; David Chitayat [États-Unis] ; Gert Matthijs [Belgique] ; Conrad Glade [Pays-Bas] ; Peter M. Steijlen [Pays-Bas] ; Jean-Pierre Fryns [Belgique] ; Maurice A. M. Van Steensel [Pays-Bas] ; Miikka Vikkula [États-Unis]	Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia
012C95 (????)	C. Glade [Pays-Bas] ; M A Van Steensel ; P M Steijlen	Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome?

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