Mutant Proteins (metabolism) < Mutation < Mutation (genetics)

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List of bibliographic references

Number of relevant bibliographic references: 80.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000337 (2000)	S C Robertson [États-Unis] ; J A Tynan ; D J Donoghue	RTK mutations and human syndromeswhen good receptors turn bad.
000413 (2000)	M N Nanjee [Royaume-Uni] ; C J Cooke ; W L Olszewski ; N E Miller	Lipid and apolipoprotein concentrations in prenodal leg lymph of fasted humans. Associations with plasma concentrations in normal subjects, lipoprotein lipase deficiency, and LCAT deficiency.
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 Walsh	Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.
000568 (2001)	S. Mansour [Royaume-Uni] ; H. Woffendin ; S. Mitton ; I. Jeffery ; T. Jakins ; S. Kenwrick ; V A Murday	Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection.
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 Casanova	X-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.
000731 (2001)	R. Bell [Royaume-Uni] ; G. Brice ; A H Child ; V A Murday ; S. Mansour ; C J Sandy ; J R Collin ; A F Brady ; D F Callen ; K. Burnand ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; S. Jeffery	Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.
000799 (2001)	R. Erickson ; S. Dagenais ; M. Caulder ; C. Downs ; G. Herman ; M. Jones ; W. Kerstjens-Frederi. ; A. Lidral ; M. Mcdonald ; C. Nelson ; M. Witte ; T. Glover	Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations
000E72 (2003)	A. Evans ; R. Bell ; G. Brice ; P. Comeglio ; C. Lipede ; S. Jeffery ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; M. Sarfarazi ; A. Child	Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema
001725 (2003)	Brian P. Brooks [États-Unis] ; Susan L. Dagenais ; Christine C. Nelson ; Michael W. Glynn ; Mark S. Caulder ; Catherine A. Downs ; Thomas W. Glover	Mutation of the FOXC2 gene in familial distichiasis.
001754 (2004)	Brett M. Hosking [Australie] ; S-C Mary Wang ; Meredith Downes ; Peter Koopman ; George E O. Muscat	The VCAM-1 gene that encodes the vascular cell adhesion molecule is a target of the Sry-related high mobility group box gene, Sox18.
001B72 (2004)	Susan L. Dagenais [États-Unis] ; Rebecca L. Hartsough ; Robert P. Erickson ; Marlys H. Witte ; Matthew G. Butler ; Thomas W. Glover	Foxc2 is expressed in developing lymphatic vessels and other tissues associated with lymphedema-distichiasis syndrome.
001C49 (2004)	Naoyuki Miura [Japon]	[Multiple roles of forkhead genes in development and metabolism].
001C77 (2004)	Gaston Pichon [France] ; Jean-Pierre Treuil	Genetic determinism of parasitic circadian periodicity and subperiodicity in human lymphatic filariasis.
001C97 (2005)	G. Brice ; A. Child ; A. Evans ; R. Bell ; S. Mansour ; K. Burnand ; M. Sarfarazi ; S. Jeffery ; Peter Mortimer (dermatologue)‎ [Royaume-Uni]	Milroy disease and the VEGFR-3 mutation phenotype
002256 (2006)	Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; J R Levick [Royaume-Uni]	Of mice and men; the translational physiology of a genetic form of lymphoedema
002354 (2007)	Amy E. Young [États-Unis] ; Leslie P. Bower ; Verena K. Affolter ; Hilde E V. De Cock ; Gregory L. Ferraro ; Danika L. Bannasch	Evaluation of FOXC2 as a candidate gene for chronic progressive lymphedema in draft horses.
002399 (2006)	A. Ghalamkarpour [Belgique] ; S. Morlot ; A. Raas-Rothschild ; A. Utkus ; J B Mulliken ; L M Boon ; M. Vikkula	Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.
002551 (2007)	C. Carver ; G. Brice ; S. Mansour ; P. Ostergaard ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; S. Jeffery	Three children with Milroy disease and de novo mutations in VEGFR3.
002B22 (2008)	Tayebeh Rezaie [États-Unis] ; Rose Ghoroghchian ; Rachel Bell ; Glen Brice ; Ali Hasan ; Kevin Burnand ; Steve Vernon ; Sahar Mansour ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; Steve Jeffery ; Anne Child ; Mansoor Sarfarazi	Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2.
002B74 (2008)	Takeshi Futatani [Japon] ; Eiji Nii ; Makoto Obata ; Fukiko Ichida ; Yoshie Okabe ; Hirokazu Kanegane ; Toshio Miyawaki	Molecular characterization of two novel VEGFR3 mutations in Japanese families with Milroy's disease.

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