DNA Methylation < DNA Mutational Analysis < DNA Primers

Facettes : AffPays.f Mesh.f AffRegion.f AffVille.f

List of bibliographic references

Number of relevant bibliographic references: 35.
[0-20] [0 - 20][0 - 35][20-34][20-40]

Ident.	Authors (with country if any)	Title
000486 (2000)	Jianming Fang ; Susan L. Dagenais ; Robert P. Erickson ; Martin F. Arlt ; Michael W. Glynn ; Jerome L. Gorski ; Laurie H. Seaver [États-Unis] ; Thomas W. Glover	Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome
000621 (2001)	R P Erickson	Lymphedema-distichiasis and FOXC2 gene mutations.
000659 (2001)	D N Finegold [États-Unis] ; M A Kimak ; E C Lawrence ; K L Levinson ; E M Cherniske ; B R Pober ; J W Dunlap ; R E Ferrell	Truncating mutations in FOXC2 cause multiple lymphedema syndromes.
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
000894 (2002)	Tsutomu Ogata [Japon] ; Koji Muroya ; Goro Sasaki ; Gen Nishimura ; Hiroshi Kitoh ; Tadashi Hattori	SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features.
000D95 (2003)	Kara L. Levinson [États-Unis] ; Eleanor Feingold ; Robert E. Ferrell ; Thomas W. Glover ; Elias I. Traboulsi ; David N. Finegold	Age of onset in hereditary lymphedema.
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.
002675 (2007)	Matthew G. Butler [États-Unis] ; Susan L. Dagenais ; Stanley G. Rockson ; Thomas W. Glover	A novel VEGFR3 mutation causes Milroy disease.
002975 (2007)	Zhengya Yu ; Jingjing Wang ; Shuling Peng ; Bing Dong ; Yang Li	Identification of a novel VEGFR-3 missense mutation in a Chinese family with hereditary lymphedema type I.
002D82 (2008)	Robert E. Ferrell [États-Unis] ; Mark A. Kimak ; Elizabeth C. Lawrence ; David N. Finegold	Candidate gene analysis in primary lymphedema.
003064 (2009)	F C Connell [Royaume-Uni] ; P. Ostergaard ; C. Carver ; G. Brice ; N. Williams ; S. Mansour ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; Steve Jeffery	Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.
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 Jeffery	Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.
003936 (2010)	Pranoot Tanpaiboon [Thaïlande] ; Piranit Kantaputra ; Karn Wejathikul ; Wirawit Piyamongkol	c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient.
003B29 (2010)	Catherine M L. Roberts [Royaume-Uni] ; Janet E. Angus ; Ian H. Leach ; Elizabeth M. Mcdermott ; David A. Walker ; Jane C. Ravenscroft	A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).
003D85 (2010)	Audrey C. Au [États-Unis] ; Paolo A. Hernandez [États-Unis] ; Ernest Lieber [États-Unis] ; Ali M. Nadroo [États-Unis] ; Yu-Ming Shen [États-Unis] ; Kevin A. Kelley [États-Unis] ; Bruce D. Gelb [États-Unis] ; George A. Diaz [États-Unis]	Protein Tyrosine Phosphatase PTPN14 Is a Regulator of Lymphatic Function and Choanal Development in Humans
003F37 (2010)	Loïc Vaillant [France] ; Valérie Tauveron	[Primary lymphedema of limbs].
004F20 (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.
005370 (2012)	Neslihan Edeer Karaca [Turquie] ; Stephanie Boisson-Dupuis [États-Unis] ; Güzide Aksu [Turquie] ; Jacinta Bustamante [France] ; Gulsen Kandiloglu [Turquie] ; Nazan Ozsan [Turquie] ; Mine Hekimgil [Turquie] ; Jean-Laurent Casanova [États-Unis] ; Necil Kutukculer [Turquie]	Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN–γ receptor–1 deficiency
005378 (2012)	M. Blein [France] ; L. Martin ; G. Lorette ; L. Vaillant ; F. Baulieu ; A. Maruani	[Primary lymphoedema in children].

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