Family Characteristics < Family Health < Family Practice

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

List of bibliographic references

Number of relevant bibliographic references: 23.
[0-20] [0 - 20][0 - 23][20-22][20-40]

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. Kitsiou	Molecular 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 Walsh	Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.
000529 (2001)	C J Holberg [États-Unis] ; R P Erickson ; M J Bernas ; M H Witte ; K E Fultz ; M. Andrade ; C L Witte	Segregation analyses and a genome-wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families.
000535 (2000)	R. Bell ; G. Brice ; A. Child ; V. Murday ; S. Mansour ; C. Sandy ; J. Collin ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; D. Callen ; K. Burnand ; S. Jeffery	Reduction of the genetic interval for lymphoedema-distichiasis to below 2 Mb
000637 (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.
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
000B81 (2002)	M. Bahuau [France] ; C. Houdayer ; M. Tredano ; V. Soupre ; R. Couderc ; M-P Vazquez	FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate.
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
001E38 (2005)	Seiji Mizuno [Japon] ; Yasukazu Yamada ; Kenichiro Yamada ; Noriko Nomura ; Nobuaki Wakamatsu	Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation.
002258 (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.
002325 (2006)	Salim Aftimos ; Malcom Battin	Familial congenital non-immune hydrops.
002380 (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.
002620 (2007)	Shoji Yabuki [Japon] ; Shin-Ichi Kikuchi ; Shiro Ikegawa	Spinal extradural arachnoid cysts associated with distichiasis and lymphedema.
002D20 (2008)	Zarife Kulo Lu [Turquie] ; Gonca Ustünda ; Ceyda Tuna Kirsaçlio Lu ; Aydan Kansu ; Meltem Bingol-Kologlu ; Rahsan Vargun ; Selcuk Hazinedaro Lu ; Selim Karayalçin ; Nurten Girgin	Successful living-related liver transplantation in a child with familial yellow nail syndrome and fulminant hepatic failure: report of a case.
002E93 (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.
003051 (2008)	Maaike Vreeburg [Pays-Bas] ; Martijn V. Heitink ; Robert J. Damstra ; Ute Moog ; Michel Van Geel ; Maurice A M. Van Steensel	Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene.
003069 (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.
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.
005222 (2013)	Kristiana Gordon [Royaume-Uni] ; Sarah L. Spiden ; Fiona C. Connell ; Glen Brice ; Sally Cottrell ; John Short ; Rohan Taylor ; Steve Jeffery ; Peter S. Mortimer ; Sahar Mansour ; Pia Ostergaard	FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.
006599 (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

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