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Serveur d'exploration sur le lymphœdème - Curation (Ncbi)

Index « Keywords » - entrée « Genetic Linkage »
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Genetic Heterogeneity < Genetic Linkage < Genetic Linkage (genetics)  Facettes :

List of bibliographic references

Number of relevant bibliographic references: 16.
Ident.Authors (with country if any)Title
000260 (1999) A. Tsezou [Grèce] ; C. Hadjiathanasiou ; D. Gourgiotis ; A. Galla ; E. Kavazarakis ; A. Pasparaki ; M. Kapsetaki ; C. Sismani ; C. Theodoridis ; P C Patsalis ; N. Moschonas ; S. KitsiouMolecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy.
000428 (2000) S E Hong [États-Unis] ; Y Y Shugart ; D T Huang ; S A Shahwan ; P E Grant ; J O Hourihane ; N D Martin ; C A WalshAutosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.
000569 (2001) R. Döffinger [France] ; A. Smahi ; C. Bessia ; F. Geissmann ; J. Feinberg ; A. Durandy ; C. Bodemer ; S. Kenwrick ; S. Dupuis-Girod ; S. Blanche ; P. Wood ; S H Rabia ; D J Headon ; P A Overbeek ; F. Le Deist ; S M Holland ; K. Belani ; D S Kumararatne ; A. Fischer ; R. Shapiro ; M E Conley ; E. Reimund ; H. Kalhoff ; M. Abinun ; A. Munnich ; A. Israël ; G. Courtois ; J L CasanovaX-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
000599 (2001) L R Osborne'Forkhead' gene expression balanced on a knife-edge.
000683 (2001) M J Karkkainen [Finlande] ; L. Jussila ; R E Ferrell ; D N Finegold ; Kari Alitalo [Finlande]Molecular regulation of lymphangiogenesis and targets for tissue oedema.
001D41 (2005) M. Ng ; T. Andrew ; T. Spector ; S. JefferyLinkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs
001E41 (2005) Carolyn Sholto-Douglas-Vernon [Royaume-Uni] ; Rachel Bell ; Glen Brice ; Sahar Mansour ; Mansoor Sarfarazi ; Anne H. Child ; Alberto Smith ; Russell Mellor ; Kevin Burnand ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; Steve JefferyLymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.
002B19 (2008) Sajid Malik [Allemagne] ; Karl-Heinz GrzeschikCongenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani family.
003727 (2010) Fiona Connell [Royaume-Uni] ; Kamini Kalidas ; Pia Ostergaard ; Glen Brice ; Tessa Homfray ; Lesley Roberts ; David J. Bunyan ; Sally Mitton ; Sahar Mansour ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; Steve JefferyLinkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.
004100 (2011) Pia Ostergaard [Royaume-Uni] ; Michael A. Simpson ; Glen Brice ; Sahar Mansour ; Fiona C. Connell ; Alexandros Onoufriadis ; Anne H. Child ; Jae Hwang ; Kamini Kalidas ; Peter S. Mortimer ; Richard Trembath ; Steve JefferyRapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.
004363 (2011) P. Ostergaard [Royaume-Uni] ; M A Simpson ; Steve JefferyMassively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit.
006741 (2014) Mariëlle Alders [Pays-Bas] ; Lihadh Al-Gazali ; Isabelle Cordeiro ; Bruno Dallapiccola ; Livia Garavelli ; Beyhan Tuysuz ; Faranak Salehi ; Martin A. Haagmans ; Olaf R. Mook ; Charles B. Majoie ; Marcel M. Mannens ; Raoul C. HennekamHennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
00AB65 (1983) P J Dahlberg ; W Z Borer ; K L Newcomer ; W R YutucAutosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy.
00B342 (1994) D W Severson ; A. Mori ; Y. Zhang ; B M ChristensenChromosomal mapping of two loci affecting filarial worm susceptibility in Aedes aegypti.
00BD19 (1998) R E Ferrell [États-Unis] ; K L Levinson ; J H Esman ; M A Kimak ; E C Lawrence ; M M Barmada ; D N FinegoldHereditary lymphedema: evidence for linkage and genetic heterogeneity.
00BD27 (1998) A R Zinn ; V S Tonk ; Z. Chen ; W L Flejter ; H A Gardner ; R. Guerra ; H. Kushner ; S. Schwartz ; V P Sybert ; D L Van Dyke ; J L RossEvidence for a Turner syndrome locus or loci at Xp11.2-p22.1.

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