1460-2075 < 1460-2083 < 1460-2091

Facettes : Author.f AffPays.f

List of bibliographic references

Number of relevant bibliographic references: 30.
[0-20] [0 - 20][0 - 30][20-29][20-40]

Ident.	Authors (with country if any)	Title
001917 (2015)	Laura M. Mcdonell ; Kristin D. Kernohan ; Kym M. Boycott ; Sarah L. Sawyer	Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin
002D43 (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.
002D93 (2014)	Elisabetta Flex ; Mamta Jaiswal [Allemagne] ; Francesca Pantaleoni ; Simone Martinelli ; Marion Strullu [France] ; Eyad K. Fansa [Allemagne] ; Aurélie Caye [France] ; Alessandro De Luca [Italie] ; Francesca Lepri [Italie] ; Radovan Dvorsky [Allemagne] ; Luca Pannone ; Stefano Paolacci ; Si-Cai Zhang [Allemagne] ; Valentina Fodale ; Gianfranco Bocchinfuso [Italie] ; Cesare Rossi [Italie] ; Emma M. M. Burkitt-Wright [Royaume-Uni] ; Andrea Farrotti [Italie] ; Emilia Stellacci ; Serena Cecchetti [Italie] ; Rosangela Ferese [Italie] ; Lisabianca Bottero ; Silvana Castro [Italie] ; Odile Fenneteau ; Benoît Brethon [France] ; Massimo Sanchez [Italie] ; Amy E. Roberts ; Helger G. Yntema [Pays-Bas] ; Ineke Van Der Burgt [Pays-Bas] ; Paola Cianci [Italie] ; Marie-Louise Bondeson [Suède] ; Maria Cristina Digilio [Italie] ; Giuseppe Zampino [Italie] ; Bronwyn Kerr [Royaume-Uni] ; Yoko Aoki [Japon] ; Mignon L. Loh [États-Unis] ; Antonio Palleschi [Italie] ; Elia Di Schiavi [Italie] ; Alessandra Carè ; Angelo Selicorni [Italie] ; Bruno Dallapiccola [Italie] ; Ion C. Cirstea [Allemagne] ; Lorenzo Stella [Italie] ; Martin Zenker [Allemagne] ; Bruce D. Gelb [États-Unis] ; Hélène Cavé [France] ; Mohammad R. Ahmadian [Allemagne] ; Marco Tartaglia	Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
004107 (2012)	Juliane Winkelmann [Allemagne] ; Ling Lin ; Barbara Schormair [Allemagne] ; Birgitte R. Kornum [Danemark] ; Juliette Faraco ; Giuseppe Plazzi [Italie] ; Atle Melberg [Suède] ; Ferdinando Cornelio [Italie] ; Alexander E. Urban [États-Unis] ; Fabio Pizza [Italie] ; Francesca Poli [Italie] ; Fabian Grubert [États-Unis] ; Thomas Wieland [Allemagne] ; Elisabeth Graf [Allemagne] ; Joachim Hallmayer ; Tim M. Strom [Allemagne] ; Emmanuel Mignot	Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy
005B72 (2010)	Stuart A. Scott ; Ninette Cohen ; Tracy Brandt [États-Unis] ; Peter E. Warburton [États-Unis] ; Lisa Edelmann [États-Unis]	Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome
006523 (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
006524 (2009)	Aurlie Dipietromaria [France] ; Brnice A. Benayoun [France] ; Anne-Laure Todeschini [France] ; Isabelle Rivals [France] ; Claude Bazin [France] ; Reiner A. Veitia [France]	Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems
006545 (2009)	Nisha Limaye ; Laurence M. Boon [Belgique] ; Miikka Vikkula [Belgique]	From germline towards somatic mutations in the pathophysiology of vascular anomalies
006D79 (2008)	Diane Beysen ; Lara Moumn [France] ; Reiner Veitia [France] ; Hartmut Peters [Allemagne] ; Bart P. Leroy [Belgique] ; Anne De Paepe ; Elfride De Baere [Belgique]	Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation
007535 (2007)	Pascal Brouillard [Belgique] ; Miikka Vikkula [Belgique]	Genetic causes of vascular malformations
007C70 (2006)	Sonja C. Vernes [Royaume-Uni] ; Jrme Nicod [Royaume-Uni] ; Fanny M. Elahi [Royaume-Uni] ; Julie A. Coventry [Royaume-Uni] ; Niamh Kenny [Royaume-Uni] ; Anne-Marie Coupe [Royaume-Uni] ; Louise E. Bird [Royaume-Uni] ; Kay E. Davies [Royaume-Uni] ; Simon E. Fisher [Royaume-Uni]	Functional genetic analysis of mutations implicated in a human speech and language disorder
007D96 (2006)	Kathleen A. Williamson ; Ann M. Hever ; Joe Rainger ; R. Curtis Rogers ; Alex Magee ; Zdenek Fiedler ; Wee Teik Keng ; Freddie H. Sharkey ; Niolette Mcgill ; Clare J. Hill ; Adele Schneider ; Mario Messina [Italie] ; Peter D. Turnpenny [Royaume-Uni] ; Judy A. Fantes ; Veronica Van Heyningen ; David R. Fitzpatrick	Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
007E44 (2006)	Jinglan Liu ; Uta Francke [États-Unis]	Identification of cis-regulatory elements for MECP2 expression
007E53 (2006)	Fred B. Berry ; Matthew A. Lines ; J. Martin Oas [États-Unis] ; Tim Footz ; D. Alan Underhill ; Philip J. Gage [États-Unis] ; Michael A. Walter	Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld–Rieger syndrome and anterior segment dysgenesis
008326 (2005)	Fred B. Berry ; Yahya Tamimi [Canada] ; Michelle V. Carle ; Ordan J. Lehmann [Canada] ; Michael A. Walter [Canada]	The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis
008352 (2005)	Aurore Morlon [France] ; Arnold Munnich [France] ; Asma Smahi [France]	TAB2, TRAF6 and TAK1 are involved in NF-κB activation induced by the TNF-receptor, Edar and its adaptator Edaradd
008507 (2005)	Thomas W. Glover [États-Unis] ; Martin F. Arlt [États-Unis] ; Anne M. Casper [États-Unis] ; Sandra G. Durkin [États-Unis]	Mechanisms of common fragile site instability
008511 (2005)	Nadav Ahituv [États-Unis] ; Shyam Prabhakar [États-Unis] ; Francis Poulin [États-Unis] ; Edward M. Rubin [États-Unis] ; Olivier Couronne [États-Unis]	Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny
008E25 (2004)	Philip Stanier [Royaume-Uni] ; Gudrun E. Moore [Royaume-Uni]	Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts
008E43 (2004)	Nadav Ahituv [États-Unis] ; Edward M. Rubin [États-Unis] ; Marcelo A. Nobrega [États-Unis]	Exploiting human–fish genome comparisons for deciphering gene regulation
009320 (2003)	Ramsey A. Saleem ; Sharmila Banerjee-Basu [États-Unis] ; Fred B. Berry [Canada] ; Andreas D. Baxevanis [États-Unis] ; Michael A. Walter [Canada]	Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1

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