Exome (genetics) < Exons < Exons (genetics)

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List of bibliographic references indexed by Exons

Number of relevant bibliographic references: 11.

Ident.	Authors (with country if any)	Title
001046 (2016)	Toshiki Takenouchi [Japon] ; Nobuhiko Okamoto [Japon] ; Shinobu Ida [Japon] ; Tomoko Uehara [Japon] ; Kenjiro Kosaki [Japon]	Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.
002C19 (2014)	Ghayda M. Mirzaa [États-Unis] ; Laura Enyedi [États-Unis] ; Gretchen Parsons [États-Unis] ; Sarah Collins [États-Unis] ; Livija Medne [États-Unis] ; Carissa Adams [États-Unis] ; Thomas Ward [États-Unis] ; Bradley Davitt [États-Unis] ; Alma Bicknese [États-Unis] ; Elaine Zackai [États-Unis] ; Helga Toriello [États-Unis] ; William B. Dobyns [États-Unis] ; Susan Christian [États-Unis]	Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature
003C43 (2013)	G. Brice [Royaume-Uni] ; P. Ostergaard ; S. Jeffery ; K. Gordon [Royaume-Uni] ; Ps Mortimer [Royaume-Uni] ; S. Mansour	A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family
004108 (2012)	Rohit Sharma [Inde] ; S L Hoti ; R L Meena ; V. Vasuki ; T. Sankari ; P. Kaliraj	Molecular and functional characterization of macrophage migration inhibitory factor (MIF) homolog of human from lymphatic filarial parasite Wuchereria bancrofti.
004443 (2012)	S. Michelini [Italie] ; D. Degiorgio ; M. Cestari ; D. Corda ; M. Ricci ; M. Cardone ; A. Mander ; L. Famoso ; E. Contini ; R. Serrani ; L. Pinelli ; S. Cecchin ; M. Bertelli	Clinical and genetic study of 46 Italian patients with primary lymphedema.
004879 (2012)	Filiz Hazan [Turquie] ; Pia Ostergaard [Royaume-Uni] ; Taylan Ozturk [Turquie] ; Esin Kantekin [Turquie] ; Fusun Atlihan [Turquie] ; Steve Jeffery [Royaume-Uni] ; Ferda Ozkinay [Turquie]	A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family
005073 (2011)	Zulkarnain Md Idris [Malaisie] ; Noorizan Miswan ; Jamail Muhi ; Tajul Ariffin Awang Mohd ; Jürgen F J. Kun ; Rahmah Noordin	Association of CTLA4 gene polymorphisms with lymphatic filariasis in an East Malaysian population.
006A97 (2008)	David N. Finegold ; Vivien Schacht ; Mark A. Kimak ; Elizabeth C. Lawrence ; Etelka Foeldi ; Jenny M. Karlsson ; Catherine J. Baty ; Robert E. Ferrell	HGF and MET Mutations in Primary and Secondary Lymphedema
006B92 (2008)	Robert E. Ferrell [États-Unis] ; Mark A. Kimak ; Elizabeth C. Lawrence ; David N. Finegold	Candidate gene analysis in primary lymphedema.
007C54 (2006)	A. Ghalamkarpour [Belgique] ; S. Morlot [Allemagne] ; A. Raas-Rothschild [Israël] ; A. Utkus [Lituanie] ; Jb Mulliken [États-Unis] ; Lm Boon [Belgique] ; M. Vikkula [Belgique]	Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations
009949 (2001)	K. Iljin [Finlande] ; M J Karkkainen ; E C Lawrence ; M A Kimak ; M. Uutela ; J. Taipale ; K. Pajusola ; L. Alhonen ; M. Halmekytö ; D N Finegold ; R E Ferrell ; Kari Alitalo [Finlande]	VEGFR3 gene structure, regulatory region, and sequence polymorphisms.

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