LymphedemaV1, PascalFrancis, Corpus, bibRecord, 000639

Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema

Identifieur interne : 000639 ( PascalFrancis/Corpus ); précédent : 000638; suivant : 000640

Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema

Auteurs : A. L. Evans ; R. Bell ; G. Brice ; P. Comeglio ; C. Lipede ; S. Jeffery ; P. Mortimer ; M. Sarfarazi ; A. H. Child

Source :

Journal of medical genetics [ 0022-2593 ] ; 2003.

RBID : Pascal:04-0324461

Descripteurs français

Pascal (Inist)
- Lymphoedème, Identification, Mutation, Etude familiale, Congénital.

English descriptors

KwdEn :
- Congenital, Family study, Identification, Lymphedema, Mutation.

Abstract

* Twelve families with primary congenital lymphoedema (PCL) are described in which there is linkage to 5q35.3. * Eight novel mutations were identified in VEGFR-3, all of which occur in the tyrosine kinase domain. . We conclude that mutation occurring in the region of VEGFR-3 encoding the tyrosine kinase domain interfere with VEGFR-3 signalling resulting in the PCL phenotype.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0022-2593`
A02	`01`			`@0 JMDGAE`
A03		`1`		`@0 J. med. genet.`
A05				`@2 40`
A06				`@2 9`
A08	`01`	`1`	`ENG`	`@1 Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema`
A11	`01`	`1`		`@1 EVANS (A. L.)`
A11	`02`	`1`		`@1 BELL (R.)`
A11	`03`	`1`		`@1 BRICE (G.)`
A11	`04`	`1`		`@1 COMEGLIO (P.)`
A11	`05`	`1`		`@1 LIPEDE (C.)`
A11	`06`	`1`		`@1 JEFFERY (S.)`
A11	`07`	`1`		`@1 MORTIMER (P.)`
A11	`08`	`1`		`@1 SARFARAZI (M.)`
A11	`09`	`1`		`@1 CHILD (A. H.)`
A14	`01`			`@1 Department of Cardiological Sciences, St George's Hospital Medical School @2 London SW17 @3 GBR @Z 1 aut. @Z 3 aut. @Z 4 aut. @Z 9 aut.`
A14	`02`			`@1 Medical Genetics Unit, St George's Hospital Medical School @3 GBR @Z 2 aut. @Z 5 aut. @Z 6 aut.`
A14	`03`			`@1 Department of Medicine (Dermatology), St George's Hospital Medical School @3 GBR @Z 7 aut.`
A14	`04`			`@1 Department of Surgery, University of Connecticut Health Center @2 Farmington, Connecticut @3 USA @Z 8 aut.`
A20				`@1 697-703`
A21				`@1 2003`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 12125 @5 354000114383230100`
A44				`@0 0000 @1 © 2004 INIST-CNRS. All rights reserved.`
A45				`@0 22 ref.`
A47	`01`	`1`		`@0 04-0324461`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Journal of medical genetics`
A66	`01`			`@0 GBR`
C01	`01`		`ENG`	`@0 * Twelve families with primary congenital lymphoedema (PCL) are described in which there is linkage to 5q35.3. * Eight novel mutations were identified in VEGFR-3, all of which occur in the tyrosine kinase domain. . We conclude that mutation occurring in the region of VEGFR-3 encoding the tyrosine kinase domain interfere with VEGFR-3 signalling resulting in the PCL phenotype.`
C02	`01`	`X`		`@0 002B12B04`
C03	`01`	`X`	`FRE`	`@0 Lymphoedème @5 01`
C03	`01`	`X`	`ENG`	`@0 Lymphedema @5 01`
C03	`01`	`X`	`SPA`	`@0 Linfedema @5 01`
C03	`02`	`X`	`FRE`	`@0 Identification @5 02`
C03	`02`	`X`	`ENG`	`@0 Identification @5 02`
C03	`02`	`X`	`SPA`	`@0 Identificación @5 02`
C03	`03`	`X`	`FRE`	`@0 Mutation @5 03`
C03	`03`	`X`	`ENG`	`@0 Mutation @5 03`
C03	`03`	`X`	`SPA`	`@0 Mutación @5 03`
C03	`04`	`X`	`FRE`	`@0 Etude familiale @5 05`
C03	`04`	`X`	`ENG`	`@0 Family study @5 05`
C03	`04`	`X`	`SPA`	`@0 Estudio familiar @5 05`
C03	`05`	`X`	`FRE`	`@0 Congénital @5 06`
C03	`05`	`X`	`ENG`	`@0 Congenital @5 06`
C03	`05`	`X`	`SPA`	`@0 Congénito @5 06`
C07	`01`	`X`	`FRE`	`@0 Appareil circulatoire pathologie @5 37`
C07	`01`	`X`	`ENG`	`@0 Cardiovascular disease @5 37`
C07	`01`	`X`	`SPA`	`@0 Aparato circulatorio patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Lymphatique pathologie @5 38`
C07	`02`	`X`	`ENG`	`@0 Lymphatic vessel disease @5 38`
C07	`02`	`X`	`SPA`	`@0 Linfático patología @5 38`
N21				`@1 194`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 04-0324461 INIST
ET :	Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema
AU :	EVANS (A. L.); BELL (R.); BRICE (G.); COMEGLIO (P.); LIPEDE (C.); JEFFERY (S.); MORTIMER (P.); SARFARAZI (M.); CHILD (A. H.)
AF :	Department of Cardiological Sciences, St George's Hospital Medical School/London SW17/Royaume-Uni (1 aut., 3 aut., 4 aut., 9 aut.); Medical Genetics Unit, St George's Hospital Medical School/Royaume-Uni (2 aut., 5 aut., 6 aut.); Department of Medicine (Dermatology), St George's Hospital Medical School/Royaume-Uni (7 aut.); Department of Surgery, University of Connecticut Health Center/Farmington, Connecticut/Etats-Unis (8 aut.)
DT :	Publication en série; Niveau analytique
SO :	Journal of medical genetics; ISSN 0022-2593; Coden JMDGAE; Royaume-Uni; Da. 2003; Vol. 40; No. 9; Pp. 697-703; Bibl. 22 ref.
LA :	Anglais
EA :	* Twelve families with primary congenital lymphoedema (PCL) are described in which there is linkage to 5q35.3. * Eight novel mutations were identified in VEGFR-3, all of which occur in the tyrosine kinase domain. . We conclude that mutation occurring in the region of VEGFR-3 encoding the tyrosine kinase domain interfere with VEGFR-3 signalling resulting in the PCL phenotype.
CC :	002B12B04
FD :	Lymphoedème; Identification; Mutation; Etude familiale; Congénital
FG :	Appareil circulatoire pathologie; Lymphatique pathologie
ED :	Lymphedema; Identification; Mutation; Family study; Congenital
EG :	Cardiovascular disease; Lymphatic vessel disease
SD :	Linfedema; Identificación; Mutación; Estudio familiar; Congénito
LO :	INIST-12125.354000114383230100
ID :	04-0324461

Links to Exploration step

Pascal:04-0324461

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema</title>
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<front><div type="abstract" xml:lang="en">* Twelve families with primary congenital lymphoedema (PCL) are described in which there is linkage to 5q35.3. * Eight novel mutations  were identified in VEGFR-3, all of which occur in the tyrosine kinase domain. . We conclude that mutation occurring in the region of VEGFR-3 encoding the tyrosine kinase domain interfere with VEGFR-3 signalling resulting in the PCL phenotype.</div>
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<fC01 i1="01" l="ENG"><s0>* Twelve families with primary congenital lymphoedema (PCL) are described in which there is linkage to 5q35.3. * Eight novel mutations  were identified in VEGFR-3, all of which occur in the tyrosine kinase domain. . We conclude that mutation occurring in the region of VEGFR-3 encoding the tyrosine kinase domain interfere with VEGFR-3 signalling resulting in the PCL phenotype.</s0>
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<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Lymphatique pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Lymphatic vessel disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Linfático patología</s0>
<s5>38</s5>
</fC07>
<fN21><s1>194</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
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<server><NO>PASCAL 04-0324461 INIST</NO>
<ET>Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema</ET>
<AU>EVANS (A. L.); BELL (R.); BRICE (G.); COMEGLIO (P.); LIPEDE (C.); JEFFERY (S.); MORTIMER (P.); SARFARAZI (M.); CHILD (A. H.)</AU>
<AF>Department of Cardiological Sciences, St George's Hospital Medical School/London SW17/Royaume-Uni (1 aut., 3 aut., 4 aut., 9 aut.); Medical Genetics Unit, St George's Hospital Medical School/Royaume-Uni (2 aut., 5 aut., 6 aut.); Department of Medicine (Dermatology), St George's Hospital Medical School/Royaume-Uni (7 aut.); Department of Surgery, University of Connecticut Health Center/Farmington, Connecticut/Etats-Unis (8 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Journal of medical genetics; ISSN 0022-2593; Coden JMDGAE; Royaume-Uni; Da. 2003; Vol. 40; No. 9; Pp. 697-703; Bibl. 22 ref.</SO>
<LA>Anglais</LA>
<EA>* Twelve families with primary congenital lymphoedema (PCL) are described in which there is linkage to 5q35.3. * Eight novel mutations were identified in VEGFR-3, all of which occur in the tyrosine kinase domain. . We conclude that mutation occurring in the region of VEGFR-3 encoding the tyrosine kinase domain interfere with VEGFR-3 signalling resulting in the PCL phenotype.</EA>
<CC>002B12B04</CC>
<FD>Lymphoedème; Identification; Mutation; Etude familiale; Congénital</FD>
<FG>Appareil circulatoire pathologie; Lymphatique pathologie</FG>
<ED>Lymphedema; Identification; Mutation; Family study; Congenital</ED>
<EG>Cardiovascular disease; Lymphatic vessel disease</EG>
<SD>Linfedema; Identificación; Mutación; Estudio familiar; Congénito</SD>
<LO>INIST-12125.354000114383230100</LO>
<ID>04-0324461</ID>
</server>
</inist>
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Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema

Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema

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