Pediatrics < Pedigree < Peer Review, Health Care

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

List of bibliographic references

Number of relevant bibliographic references: 130.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000143 (1999)	J. Mangion ; N. Rahman ; S. Mansour ; G. Brice ; J. Rosbotham ; A H Child ; V A Murday ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; R. Barfoot ; A. Sigurdsson ; S. Edkins ; M. Sarfarazi ; K. Burnand ; A L Evans ; T O Nunan ; M R Stratton ; S. Jeffery	A gene for lymphedema-distichiasis maps to 16q24.3.
000174 (1999)	C. Limwongse [États-Unis] ; R E Wyszynski ; L H Dickerman ; N H Robin	Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance.
000246 (2000)	J L Rosbotham [Royaume-Uni] ; G W Brice ; A H Child ; T O Nunan ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; K G Burnand	Distichiasis-lymphoedema: clinical features, venous function and lymphoscintigraphy.
000298 (2000)	A J Terhell [Pays-Bas] ; J J Houwing-Duistermaat ; Y. Ruiterman ; M. Haarbrink ; K. Abadi ; M. Yazdanbakhsh	Clustering of Brugia malayi infection in a community in South-Sulawesi, Indonesia.
000341 (2000)	M J Karkkainen [Finlande] ; R E Ferrell ; E C Lawrence ; M A Kimak ; K L Levinson ; M A Mctigue ; Kari Alitalo [Finlande] ; D N Finegold	Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.
000352 (2000)	Alexandre Irrthum ; Marika J. Karkkainen ; Koen Devriendt [Belgique] ; Kari Alitalo [Finlande] ; Miikka Vikkula [Belgique]	Congenital Hereditary Lymphedema Caused by a Mutation That Inactivates VEGFR3 Tyrosine Kinase
000424 (2000)	Laura N. Bull ; Erin Roche ; Eyun J. Song ; Jan Pedersen ; A. S. Knisely ; C. B. Van Der Hagen ; Kristin Eiklid ; Ystein Aagenaes [États-Unis] ; Nelson B. Freimer	Mapping of the Locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6-cM Interval on Chromosome 15q
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.
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
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
000615 (2001)	I. Casteels ; K. Devriendt ; A. Leys ; H. Van Cleynenbreuge. ; P. Demaerel ; F. De Tavernier ; J. Fryns	Autosomal dominant microcephaly—lymphoedema-chorioretinal dysplasia syndrome
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.
000803 (????)	C. Glade [Pays-Bas] ; M A Van Steensel ; P M Steijlen	Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome?
000957 (2002)	M. Usta [Turquie] ; K. Dilek ; A. Ersoy ; E. Alper ; S. Ozbek ; B. Ozdemir ; G. Filiz ; M. Yavuz ; M. Güllülü ; M. Yurtkuran	A family with IgA nephropathy and hereditary lymphoedema praecox.
000B32 (2002)	Elias I. Traboulsi [États-Unis] ; Khouloud Al-Khayer ; Masayuki Matsumoto ; Mark A. Kimak ; Susan Crowe ; Steven E. Wilson ; David N. Finegold ; Robert E. Ferrell ; David M. Meisler	Lymphedema-distichiasis syndrome and FOXC2 gene mutation.
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.
000B98 (2003)	A. Lev-Sagie [Israël] ; Y. Hamani ; A. Raas-Rothschild ; S. Yagel ; E Y Anteby	Prenatal ultrasonographic diagnosis of atypical Nonne-Milroy lymphedema.
000D38 (2003)	Martin Frühwirth [Autriche] ; Andreas R. Janecke ; Thomas Müller ; Victoria E H. Carlton ; Florian Kronenberg ; Felix Offner ; A S Knisely ; Silvana Geleff ; Eyun J. Song ; Burkhard Simma ; Alfred Königsrainer ; Raimund Margreiter ; C B Van Der Hagen ; Kristin Eiklid ; Oystein Aagenaes ; Laura Bull ; Helmut Ellemunter	Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome.
000D50 (2003)	Alexandre Irrthum [Belgique] ; Koenraad Devriendt [Belgique] ; David Chitayat [Canada] ; Gert Matthijs [Belgique] ; Conrad Glade [Pays-Bas] ; Peter M. Steijlen [Pays-Bas] ; Jean-Pierre Fryns [Belgique] ; Maurice A. Van Steensel [Pays-Bas] ; Miikka Vikkula [Belgique]	Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia
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.

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