Santé buccodentaire < Santé de la famille < Santé des femmes

Facettes : Author.f AffPays.f AffRegion.f AffVille.f AffOrg.f KwdFr.f Mesh.f MeshFr.f

List of bibliographic references indexed by Santé de la famille

Number of relevant bibliographic references: 19.

Ident.	Authors (with country if any)	Title
002A29 (2014)	Juehua Gao [États-Unis] ; Ryan D. Gentzler [États-Unis] ; Andrew E. Timms [États-Unis] ; Marshall S. Horwitz [États-Unis] ; Olga Frankfurt [États-Unis] ; Jessica K. Altman [États-Unis] ; Loann C. Peterson [États-Unis]	Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature
003B54 (2013)	Kristiana Gordon [Royaume-Uni] ; Sarah L. Spiden [Royaume-Uni] ; Fiona C. Connell [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Sally Cottrell [Royaume-Uni] ; John Short [Royaume-Uni] ; Rohan Taylor [Royaume-Uni] ; Steve Jeffery [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni]	FLT4/VEGFR3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update
005817 (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.
006273 (2009)	Valerie L R M. Verstraeten ; Wolfgang Holnthoner ; Maurice A M. Van Steensel ; Joep C J M. Veraart ; Reno S. Bladergroen ; Caroline A. Heckman ; Salla Keskitalo ; Jorge Frank ; Kari Alitalo [Finlande] ; Michel Van Geel ; Peter M. Steijlen	Functional analysis of FLT4 mutations associated with Nonne-Milroy lymphedema.
006A01 (2008)	M T Dellinger [États-Unis] ; K. Thome ; M J Bernas ; R P Erickson ; M H Witte	Novel FOXC2 missense mutation identified in patient with lymphedema-distichiasis syndrome and review.
006D39 (2008)	Zarife Kulo Lu ; Gonca Üstünda ; Ceyda Tuna K Rsaçl O Lu ; Aydan Kansu ; Meltem Bingol-Kologlu ; Rahsan Vargun ; Selcuk Hazinedaro Lu ; Selim Karayalç N [Turquie] ; Nurten Girgin	Successful living‐related liver transplantation in a child with familial yellow nail syndrome and fulminant hepatic failure: Report of a case
006E09 (2008)	Maaike Vreeburg ; Martijn V. Heitink ; Robert J. Damstra [Allemagne] ; Ute Moog [Allemagne] ; Michel Van Geel [Allemagne] ; Maurice A. M. Van Steensel [Allemagne]	Lymphedema–distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene
007448 (2007)	Shoji Yabuki [Japon] ; Shin-Ichi Kikuchi [Japon] ; Shiro Ikegawa [Japon]	Spinal extradural arachnoid cysts associated with distichiasis and lymphedema
007794 (2006)	Ronen Spiegel [Israël] ; Arash Ghalamkarpour ; Etty Daniel-Spiegel ; Miikka Vikkula ; Stavit A. Shalev	Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.
007978 (2006)	Salim Aftimos ; Malcom Battin	Familial congenital non-immune hydrops.
008487 (2005)	Seiji Mizuno [Japon] ; Yasukazu Yamada [Japon] ; Kenichiro Yamada [Japon] ; Noriko Nomura [Japon] ; Nobuaki Wakamatsu [Japon]	Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation
009119 (2003)	A L Evans [Royaume-Uni] ; R. Bell ; G. Brice [Royaume-Uni] ; P. Comeglio [Royaume-Uni] ; C. Lipede ; S. Jeffery ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; M. Sarfarazi [États-Unis] ; A H Child [Royaume-Uni]	Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema
009A44 (2001)	M V Weerasooriya [Sri Lanka] ; T R Weerasooriya ; N K Gunawardena ; W A Samarawickrema ; E. Kimura	Epidemiology of bancroftian filariasis in three suburban areas of Matara, Sri Lanka.
00A011 (2001)	Robert P. Erickson ; Susan L. Dagenais ; Mark S. Caulder ; Catherine A. Downs ; Gail Herman ; Marilyn C. Jones ; Wilhelmina S. Kerstjens-Frederikse ; Andrew C. Lidral ; Marie Mcdonald ; Christine C. Nelson ; Marlys Witte ; Thomas W. Glover	Clinical heterogeneity in lymphoedema-distichiasis withFOXC2 truncating mutations [Original article] [Original article]
00A280 (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.
00A517 (2000)	R. Bell ; G. Brice ; A H Child ; V A Murday ; S. Mansour ; C J Sandy ; J R O. Collin ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; D F Callen ; K. Burnand ; S. Jeffery	Reduction of the genetic interval for lymphoedema-distichiasis to below 2 Mb
00AD75 (1999)	A. Tsezou ; Ch Hadjiathanasiou ; D. Gourgiotis ; A. Galla ; Em Kavazarakis ; A. Pasparaki ; M. Kapsetaki ; C. Sismani [Chypre (pays)] ; Ch Theodoridis ; Pc Patsalis [Chypre (pays)] ; N. Moschonas ; S. Kitsiou	Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy
00C317 (1995)	D W Meyrowitsch [Danemark] ; P E Simonsen ; W H Makunde	Bancroftian filariasis: analysis of infection and disease in five endemic communities of north-eastern Tanzania.
00D519 (1991)	P J Lammie [États-Unis] ; W L Hitch ; E M Walker Allen ; W. Hightower ; M L Eberhard	Maternal filarial infection as risk factor for infection in children.

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