LymphedemaV1, PascalFrancis, Corpus, bibRecord, 000678

Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome

Identifieur interne : 000678 ( PascalFrancis/Corpus ); précédent : 000677; suivant : 000679

Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome

Auteurs : Martin Frühwirth ; 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 ; Ystein Aagenaes ; Laura Bull ; Helmut Ellemunter

Source :

The Journal of pediatrics [ 0022-3476 ] ; 2003.

RBID : Pascal:03-0416342

Descripteurs français

Pascal (Inist)
- Génétique, Hétérogénéité, Lymphoedème, Association, Cholostase, Enfant, Etude cas.

English descriptors

KwdEn :
- Association, Case study, Child, Cholostasis, Genetics, Heterogeneity, Lymphedema.

Abstract

Lymphedema-cholestasis syndrome (LCS, Aagenaes syndrome) is the only known form of hereditary lymphedema associated with cholestasis. A locus, LCS1, has recently been mapped to chromosome 15q in a Norwegian kindred. In a consanguine Serhian Romani family with a neonate who had a combination of lymphedema and cholestasis with features atypical for Norwegian LCS, haplotype and linkage analysis of markers spanning the LCS1 region argue that a second LCS locus may exist. The infant may represent an instance of a previously undeseribed lymphedema-cholestasis syndrome.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0022-3476`
A02	`01`			`@0 JOPDAB`
A03		`1`		`@0 J. pediatr.`
A05				`@2 142`
A06				`@2 4`
A08	`01`	`1`	`ENG`	`@1 Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome`
A11	`01`	`1`		`@1 FRÜHWIRTH (Martin)`
A11	`02`	`1`		`@1 JANECKE (Andreas R.)`
A11	`03`	`1`		`@1 MÜLLER (Thomas)`
A11	`04`	`1`		`@1 CARLTON (Victoria E. H.)`
A11	`05`	`1`		`@1 KRONENBERG (Florian)`
A11	`06`	`1`		`@1 OFFNER (Felix)`
A11	`07`	`1`		`@1 KNISELY (A. S.)`
A11	`08`	`1`		`@1 GELEFF (Silvana)`
A11	`09`	`1`		`@1 SONG (Eyun J.)`
A11	`10`	`1`		`@1 SIMMA (Burkhard)`
A11	`11`	`1`		`@1 KÖNIGSRAINER (Alfred)`
A11	`12`	`1`		`@1 MARGREITER (Raimund)`
A11	`13`	`1`		`@1 VAN DER HAGEN (C. B.)`
A11	`14`	`1`		`@1 EIKLID (Kristin)`
A11	`15`	`1`		`@1 AAGENAES (Øystein)`
A11	`16`	`1`		`@1 BULL (Laura)`
A11	`17`	`1`		`@1 ELLEMUNTER (Helmut)`
A14	`01`			`@1 Departments of Pediatrics and Transplantation Surgery, University Hospital Innsbruck @2 Vienna @3 AUT`
A14	`02`			`@1 Institute of Medical Biology and Human Genetics, University of Innsbruck @2 Vienna @3 AUT`
A14	`03`			`@1 Departments of Pathology and Pediatrics, Academic Teaching Hospital Feldkirch @2 Vienna @3 AUT`
A14	`04`			`@1 Department of Clinical Pathology, University of Vienna @2 Vienna @3 AUT`
A14	`05`			`@1 Liver Center Laboratory and Department of Medicine, San Francisco General Hospital, University of California @2 San Francisco @3 USA`
A14	`06`			`@1 Institute of Liver Studies, King's College Hospital @2 London @3 GBR`
A14	`07`			`@1 Medical Genetics and Pediatrics, Ullevål University Hospital of Oslo @3 NOR`
A20				`@1 441-447`
A21				`@1 2003`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 2061 @5 354000118075270190`
A44				`@0 0000 @1 © 2003 INIST-CNRS. All rights reserved.`
A45				`@0 22 ref.`
A47	`01`	`1`		`@0 03-0416342`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 The Journal of pediatrics`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Lymphedema-cholestasis syndrome (LCS, Aagenaes syndrome) is the only known form of hereditary lymphedema associated with cholestasis. A locus, LCS1, has recently been mapped to chromosome 15q in a Norwegian kindred. In a consanguine Serhian Romani family with a neonate who had a combination of lymphedema and cholestasis with features atypical for Norwegian LCS, haplotype and linkage analysis of markers spanning the LCS1 region argue that a second LCS locus may exist. The infant may represent an instance of a previously undeseribed lymphedema-cholestasis syndrome.
C02	`01`	`X`		`@0 002B12B04`
C02	`02`	`X`		`@0 002B13C03`
C02	`03`	`X`		`@0 002B23B`
C03	`01`	`X`	`FRE`	`@0 Génétique @5 02`
C03	`01`	`X`	`ENG`	`@0 Genetics @5 02`
C03	`01`	`X`	`SPA`	`@0 Genética @5 02`
C03	`02`	`X`	`FRE`	`@0 Hétérogénéité @5 03`
C03	`02`	`X`	`ENG`	`@0 Heterogeneity @5 03`
C03	`02`	`X`	`SPA`	`@0 Heterogeneidad @5 03`
C03	`03`	`X`	`FRE`	`@0 Lymphoedème @5 04`
C03	`03`	`X`	`ENG`	`@0 Lymphedema @5 04`
C03	`03`	`X`	`SPA`	`@0 Linfedema @5 04`
C03	`04`	`X`	`FRE`	`@0 Association @5 05`
C03	`04`	`X`	`ENG`	`@0 Association @5 05`
C03	`04`	`X`	`SPA`	`@0 Asociación @5 05`
C03	`05`	`X`	`FRE`	`@0 Cholostase @5 07`
C03	`05`	`X`	`ENG`	`@0 Cholostasis @5 07`
C03	`05`	`X`	`SPA`	`@0 Colostasis @5 07`
C03	`06`	`X`	`FRE`	`@0 Enfant @5 08`
C03	`06`	`X`	`ENG`	`@0 Child @5 08`
C03	`06`	`X`	`SPA`	`@0 Niño @5 08`
C03	`07`	`X`	`FRE`	`@0 Etude cas @5 09`
C03	`07`	`X`	`ENG`	`@0 Case study @5 09`
C03	`07`	`X`	`SPA`	`@0 Estudio caso @5 09`
C07	`01`	`X`	`FRE`	`@0 Homme`
C07	`01`	`X`	`ENG`	`@0 Human`
C07	`01`	`X`	`SPA`	`@0 Hombre`
C07	`02`	`X`	`FRE`	`@0 Appareil circulatoire pathologie @5 70`
C07	`02`	`X`	`ENG`	`@0 Cardiovascular disease @5 70`
C07	`02`	`X`	`SPA`	`@0 Aparato circulatorio patología @5 70`
C07	`03`	`X`	`FRE`	`@0 Lymphatique pathologie @5 71`
C07	`03`	`X`	`ENG`	`@0 Lymphatic vessel disease @5 71`
C07	`03`	`X`	`SPA`	`@0 Linfático patología @5 71`
C07	`04`	`X`	`FRE`	`@0 Appareil digestif pathologie @5 72`
C07	`04`	`X`	`ENG`	`@0 Digestive diseases @5 72`
C07	`04`	`X`	`SPA`	`@0 Aparato digestivo patología @5 72`
C07	`05`	`X`	`FRE`	`@0 Voie biliaire pathologie @5 73`
C07	`05`	`X`	`ENG`	`@0 Biliary tract disease @5 73`
C07	`05`	`X`	`SPA`	`@0 Vía biliar patología @5 73`
N21				`@1 286`
N82				`@1 PSI`

Format Inist (serveur)

NO :	PASCAL 03-0416342 INIST
ET :	Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome
AU :	FRÜHWIRTH (Martin); JANECKE (Andreas R.); MÜLLER (Thomas); CARLTON (Victoria E. H.); KRONENBERG (Florian); OFFNER (Felix); KNISELY (A. S.); GELEFF (Silvana); SONG (Eyun J.); SIMMA (Burkhard); KÖNIGSRAINER (Alfred); MARGREITER (Raimund); VAN DER HAGEN (C. B.); EIKLID (Kristin); AAGENAES (Øystein); BULL (Laura); ELLEMUNTER (Helmut)
AF :	Departments of Pediatrics and Transplantation Surgery, University Hospital Innsbruck/Vienna/Autriche; Institute of Medical Biology and Human Genetics, University of Innsbruck/Vienna/Autriche; Departments of Pathology and Pediatrics, Academic Teaching Hospital Feldkirch/Vienna/Autriche; Department of Clinical Pathology, University of Vienna/Vienna/Autriche; Liver Center Laboratory and Department of Medicine, San Francisco General Hospital, University of California/San Francisco/Etats-Unis; Institute of Liver Studies, King's College Hospital/London/Royaume-Uni; Medical Genetics and Pediatrics, Ullevål University Hospital of Oslo/Norvège
DT :	Publication en série; Niveau analytique
SO :	The Journal of pediatrics; ISSN 0022-3476; Coden JOPDAB; Etats-Unis; Da. 2003; Vol. 142; No. 4; Pp. 441-447; Bibl. 22 ref.
LA :	Anglais
EA :	Lymphedema-cholestasis syndrome (LCS, Aagenaes syndrome) is the only known form of hereditary lymphedema associated with cholestasis. A locus, LCS1, has recently been mapped to chromosome 15q in a Norwegian kindred. In a consanguine Serhian Romani family with a neonate who had a combination of lymphedema and cholestasis with features atypical for Norwegian LCS, haplotype and linkage analysis of markers spanning the LCS1 region argue that a second LCS locus may exist. The infant may represent an instance of a previously undeseribed lymphedema-cholestasis syndrome.
CC :	002B12B04; 002B13C03; 002B23B
FD :	Génétique; Hétérogénéité; Lymphoedème; Association; Cholostase; Enfant; Etude cas
FG :	Homme; Appareil circulatoire pathologie; Lymphatique pathologie; Appareil digestif pathologie; Voie biliaire pathologie
ED :	Genetics; Heterogeneity; Lymphedema; Association; Cholostasis; Child; Case study
EG :	Human; Cardiovascular disease; Lymphatic vessel disease; Digestive diseases; Biliary tract disease
SD :	Genética; Heterogeneidad; Linfedema; Asociación; Colostasis; Niño; Estudio caso
LO :	INIST-2061.354000118075270190
ID :	03-0416342

Links to Exploration step

Pascal:03-0416342

Le document en format XML

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<author><name sortKey="Aagenaes,  Ystein" sort="Aagenaes,  Ystein" uniqKey="Aagenaes  " first=" Ystein" last="Aagenaes"> Ystein Aagenaes</name>
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<author><name sortKey="Bull, Laura" sort="Bull, Laura" uniqKey="Bull L" first="Laura" last="Bull">Laura Bull</name>
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<author><name sortKey="Ellemunter, Helmut" sort="Ellemunter, Helmut" uniqKey="Ellemunter H" first="Helmut" last="Ellemunter">Helmut Ellemunter</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome</title>
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</affiliation>
<affiliation><inist:fA14 i1="04"><s1>Department of Clinical Pathology, University of Vienna</s1>
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<affiliation><inist:fA14 i1="05"><s1>Liver Center Laboratory and Department of Medicine, San Francisco General Hospital, University of California</s1>
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<affiliation><inist:fA14 i1="06"><s1>Institute of Liver Studies, King's College Hospital</s1>
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<author><name sortKey="Janecke, Andreas R" sort="Janecke, Andreas R" uniqKey="Janecke A" first="Andreas R." last="Janecke">Andreas R. Janecke</name>
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<author><name sortKey="Offner, Felix" sort="Offner, Felix" uniqKey="Offner F" first="Felix" last="Offner">Felix Offner</name>
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<author><name sortKey="Knisely, A S" sort="Knisely, A S" uniqKey="Knisely A" first="A. S." last="Knisely">A. S. Knisely</name>
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<author><name sortKey="Geleff, Silvana" sort="Geleff, Silvana" uniqKey="Geleff S" first="Silvana" last="Geleff">Silvana Geleff</name>
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<author><name sortKey="Song, Eyun J" sort="Song, Eyun J" uniqKey="Song E" first="Eyun J." last="Song">Eyun J. Song</name>
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<author><name sortKey="Simma, Burkhard" sort="Simma, Burkhard" uniqKey="Simma B" first="Burkhard" last="Simma">Burkhard Simma</name>
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<author><name sortKey="Konigsrainer, Alfred" sort="Konigsrainer, Alfred" uniqKey="Konigsrainer A" first="Alfred" last="Königsrainer">Alfred Königsrainer</name>
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<author><name sortKey="Margreiter, Raimund" sort="Margreiter, Raimund" uniqKey="Margreiter R" first="Raimund" last="Margreiter">Raimund Margreiter</name>
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<author><name sortKey="Van Der Hagen, C B" sort="Van Der Hagen, C B" uniqKey="Van Der Hagen C" first="C. B." last="Van Der Hagen">C. B. Van Der Hagen</name>
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<author><name sortKey="Eiklid, Kristin" sort="Eiklid, Kristin" uniqKey="Eiklid K" first="Kristin" last="Eiklid">Kristin Eiklid</name>
</author>
<author><name sortKey="Aagenaes,  Ystein" sort="Aagenaes,  Ystein" uniqKey="Aagenaes  " first=" Ystein" last="Aagenaes"> Ystein Aagenaes</name>
</author>
<author><name sortKey="Bull, Laura" sort="Bull, Laura" uniqKey="Bull L" first="Laura" last="Bull">Laura Bull</name>
</author>
<author><name sortKey="Ellemunter, Helmut" sort="Ellemunter, Helmut" uniqKey="Ellemunter H" first="Helmut" last="Ellemunter">Helmut Ellemunter</name>
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</analytic>
<series><title level="j" type="main">The Journal of pediatrics</title>
<title level="j" type="abbreviated">J. pediatr.</title>
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<seriesStmt><title level="j" type="main">The Journal of pediatrics</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Association</term>
<term>Case study</term>
<term>Child</term>
<term>Cholostasis</term>
<term>Genetics</term>
<term>Heterogeneity</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Génétique</term>
<term>Hétérogénéité</term>
<term>Lymphoedème</term>
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<front><div type="abstract" xml:lang="en">Lymphedema-cholestasis syndrome (LCS, Aagenaes syndrome) is the only known form of hereditary lymphedema associated with cholestasis. A locus, LCS1, has recently been mapped to chromosome 15q in a Norwegian kindred. In a consanguine Serhian Romani family with a neonate who had a combination of lymphedema and cholestasis with features atypical for Norwegian LCS, haplotype and linkage analysis of markers spanning the LCS1 region argue that a second LCS locus may exist. The infant may represent an instance of a previously undeseribed lymphedema-cholestasis syndrome.</div>
</front>
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<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0022-3476</s0>
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<fA02 i1="01"><s0>JOPDAB</s0>
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<fA11 i1="01" i2="1"><s1>FRÜHWIRTH (Martin)</s1>
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<fA11 i1="02" i2="1"><s1>JANECKE (Andreas R.)</s1>
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<fA11 i1="03" i2="1"><s1>MÜLLER (Thomas)</s1>
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<fA11 i1="04" i2="1"><s1>CARLTON (Victoria E. H.)</s1>
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<fA11 i1="05" i2="1"><s1>KRONENBERG (Florian)</s1>
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<fA11 i1="06" i2="1"><s1>OFFNER (Felix)</s1>
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<fA11 i1="07" i2="1"><s1>KNISELY (A. S.)</s1>
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<fA11 i1="08" i2="1"><s1>GELEFF (Silvana)</s1>
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<fA11 i1="09" i2="1"><s1>SONG (Eyun J.)</s1>
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<fA11 i1="10" i2="1"><s1>SIMMA (Burkhard)</s1>
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<fA11 i1="11" i2="1"><s1>KÖNIGSRAINER (Alfred)</s1>
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<fA11 i1="12" i2="1"><s1>MARGREITER (Raimund)</s1>
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<fA11 i1="13" i2="1"><s1>VAN DER HAGEN (C. B.)</s1>
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<fA11 i1="14" i2="1"><s1>EIKLID (Kristin)</s1>
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<s5>354000118075270190</s5>
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<s1>© 2003 INIST-CNRS. All rights reserved.</s1>
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<fC01 i1="01" l="ENG"><s0>Lymphedema-cholestasis syndrome (LCS, Aagenaes syndrome) is the only known form of hereditary lymphedema associated with cholestasis. A locus, LCS1, has recently been mapped to chromosome 15q in a Norwegian kindred. In a consanguine Serhian Romani family with a neonate who had a combination of lymphedema and cholestasis with features atypical for Norwegian LCS, haplotype and linkage analysis of markers spanning the LCS1 region argue that a second LCS locus may exist. The infant may represent an instance of a previously undeseribed lymphedema-cholestasis syndrome.</s0>
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</fC07>
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<s5>71</s5>
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<s5>71</s5>
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<s5>72</s5>
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<s5>72</s5>
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<s5>72</s5>
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<server><NO>PASCAL 03-0416342 INIST</NO>
<ET>Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome</ET>
<AU>FRÜHWIRTH (Martin); JANECKE (Andreas R.); MÜLLER (Thomas); CARLTON (Victoria E. H.); KRONENBERG (Florian); OFFNER (Felix); KNISELY (A. S.); GELEFF (Silvana); SONG (Eyun J.); SIMMA (Burkhard); KÖNIGSRAINER (Alfred); MARGREITER (Raimund); VAN DER HAGEN (C. B.); EIKLID (Kristin); AAGENAES (Øystein); BULL (Laura); ELLEMUNTER (Helmut)</AU>
<AF>Departments of Pediatrics and Transplantation Surgery, University Hospital Innsbruck/Vienna/Autriche; Institute of Medical Biology and Human Genetics, University of Innsbruck/Vienna/Autriche; Departments of Pathology and Pediatrics, Academic Teaching Hospital Feldkirch/Vienna/Autriche; Department of Clinical Pathology, University of Vienna/Vienna/Autriche; Liver Center Laboratory and Department of Medicine, San Francisco General Hospital, University of California/San Francisco/Etats-Unis; Institute of Liver Studies, King's College Hospital/London/Royaume-Uni; Medical Genetics and Pediatrics, Ullevål University Hospital of Oslo/Norvège</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>The Journal of pediatrics; ISSN 0022-3476; Coden JOPDAB; Etats-Unis; Da. 2003; Vol. 142; No. 4; Pp. 441-447; Bibl. 22 ref.</SO>
<LA>Anglais</LA>
<EA>Lymphedema-cholestasis syndrome (LCS, Aagenaes syndrome) is the only known form of hereditary lymphedema associated with cholestasis. A locus, LCS1, has recently been mapped to chromosome 15q in a Norwegian kindred. In a consanguine Serhian Romani family with a neonate who had a combination of lymphedema and cholestasis with features atypical for Norwegian LCS, haplotype and linkage analysis of markers spanning the LCS1 region argue that a second LCS locus may exist. The infant may represent an instance of a previously undeseribed lymphedema-cholestasis syndrome.</EA>
<CC>002B12B04; 002B13C03; 002B23B</CC>
<FD>Génétique; Hétérogénéité; Lymphoedème; Association; Cholostase; Enfant; Etude cas</FD>
<FG>Homme; Appareil circulatoire pathologie; Lymphatique pathologie; Appareil digestif pathologie; Voie biliaire pathologie</FG>
<ED>Genetics; Heterogeneity; Lymphedema; Association; Cholostasis; Child; Case study</ED>
<EG>Human; Cardiovascular disease; Lymphatic vessel disease; Digestive diseases; Biliary tract disease</EG>
<SD>Genética; Heterogeneidad; Linfedema; Asociación; Colostasis; Niño; Estudio caso</SD>
<LO>INIST-2061.354000118075270190</LO>
<ID>03-0416342</ID>
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Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome

Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome

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