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Titolo:
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31
Autore:
Vollmer, M; Jeck, N; Lemmink, HH; Vargas, R; Feldmann, D; Konrad, M; Beekmann, F; van den Heuvel, LPWJ; Deschenes, G; Guay-Woodford, LM; Antignac, C; Seyberth, HW; Hildebrandt, F; Knoers, NVAM;
Indirizzi:
Childrens Univ Hosp, Dept Pediat, Freiburg, Germany Childrens Univ Hosp Freiburg Germany sp, Dept Pediat, Freiburg, Germany Childrens Univ Hosp, Dept Pediat, Marburg, Germany Childrens Univ Hosp Marburg Germany Hosp, Dept Pediat, Marburg, Germany Univ Nijmegen Hosp, Dept Pediat & Human Genet, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp Nijmegen Netherlands NL-6500 HB Nijmegen, Netherlands Univ Paris 05, Necker Hosp, INSERM, U423, Paris, France Univ Paris 05 Paris France 05, Necker Hosp, INSERM, U423, Paris, France Armand Trousseau Hosp, Dept Biochem, Paris, France Armand Trousseau Hosp Paris France au Hosp, Dept Biochem, Paris, France Armand Trousseau Hosp, Dept Pediat Nephrol, Paris, France Armand TrousseauHosp Paris France , Dept Pediat Nephrol, Paris, France Univ Alabama, Dept Med & Pediat, Birmingham, AL USA Univ Alabama Birmingham AL USA ma, Dept Med & Pediat, Birmingham, AL USA
Titolo Testata:
NEPHROLOGY DIALYSIS TRANSPLANTATION
fascicolo: 7, volume: 15, anno: 2000,
pagine: 970 - 974
SICI:
0931-0509(200007)15:7<970:ABSWSD>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
HYPOKALEMIC ALKALOSIS; COTRANSPORTER GENE; CHANNEL GENE; MUTATIONS; HYPERCALCIURIA; LINKAGE; JERVELL; MAP;
Keywords:
antenatal Bartter syndrome; chromosome 1p31; deafness; haplotype analysis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Knoers, NVAM Univ Nijmegen, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen POB 9101 Nijmegen Netherlands NL-6500 HB lands
Citazione:
M. Vollmer et al., "Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31", NEPH DIAL T, 15(7), 2000, pp. 970-974

Abstract

Background. Recently a locus for antenatal Bartter syndrome associated with sensorineural deafness was mapped to human chromosome 1p31 in a single consanguineous Bedouin family (Brennan ef al. Am J Hum Genet 1998; 62: 355-361). Methods, By haplotype analysis we demonstrate linkage to this locus in nine consanguineous families with antenatal Bartter syndrome associated with sensorineural deafness. Results. The critical interval compatible with linkage was refined to 4.0 cM by two novel recombinational events with markers D1S2661 and D1S475. Conclusion. We thereby confirmed this gene locus and distinguished this clinical subtype from other variants of Bartter syndrome as a new disease entity.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 08/04/20 alle ore 10:55:40