ISODISOMY OF CHROMOSOME-7 IN A PATIENT WITH CYSTIC-FIBROSIS - COULD UNIPARENTAL DISOMY BE COMMON IN HUMANS

被引：0

作者：

VOSS, R

BENSIMON, E

AVITAL, A

GODFREY, S

ZLOTOGORA, J

DAGAN, J

TIKOCHINSKI, Y

HILLEL, J

机构：

[1] HEBREW UNIV JERUSALEM,HADASSAH MED CTR,DEPT PEDIAT,JERUSALEM,ISRAEL

[2] HEBREW UNIV JERUSALEM,INST LIFE SCI,DEPT GENET,JERUSALEM,ISRAEL

[3] HEBREW UNIV JERUSALEM,FAC AGR,GENET & ANIM BREEDING UNIT,IL-76100 REHOVOT,ISRAEL

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1989年 / 45卷 / 03期

关键词：

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：373 / 380

页数：8

共 40 条

[31] PLASMINOGEN-ACTIVATOR INHIBITOR TYPE-1 GENE IS LOCATED AT REGION Q21.3-Q22 OF CHROMOSOME-7 AND GENETICALLY LINKED WITH CYSTIC-FIBROSIS [J].

KLINGER, KW ;

WINQVIST, R ;

RICCIO, A ;

ANDREASEN, PA ;

SARTORIO, R ;

NIELSEN, LS ;

STUART, N ;

STANISLOVITIS, P ;

WATKINS, P ;

DOUGLAS, R ;

GRZESCHIK, KH ;

ALITALO, K ;

BLASI, F ;

DANO, K .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (23) :8548-8552

[32] GENEALOGICAL ANALYSIS OF CYSTIC-FIBROSIS FAMILIES AND CHROMOSOME 7Q RFLP HAPLOTYPES IN THE HUTTERITE BRETHREN [J].

FUJIWARA, TM ;

MORGAN, K ;

SCHWARTZ, RH ;

DOHERTY, RA ;

MILLER, SR ;

KLINGER, K ;

STANISLOVITIS, P ;

STUART, N ;

WATKINS, PC .

AMERICAN JOURNAL OF HUMAN GENETICS, 1989, 44 (03) :327-337

[33] CHROMOSOME MEDIATED GENE-TRANSFER OF 6 DNA MARKERS LINKED TO THE CYSTIC-FIBROSIS LOCUS ON HUMAN-CHROMOSOME 7 [J].

SCAMBLER, PJ ;

LAW, HY ;

WILLIAMSON, R ;

COOPER, CS .

NUCLEIC ACIDS RESEARCH, 1986, 14 (18) :7159-7174

[34] ISOLATION OF A FURTHER ANONYMOUS INFORMATIVE DNA-SEQUENCE FROM CHROMOSOME 7 CLOSELY LINKED TO CYSTIC-FIBROSIS [J].

SCAMBLER, PJ ;

WAINWRIGHT, BJ ;

WATSON, E ;

BATES, G ;

BELL, G ;

WILLIAMSON, R ;

FARRALL, M .

NUCLEIC ACIDS RESEARCH, 1986, 14 (05) :1951-1956

[35] OWL MONKEY GENE MAP - EVIDENCE FOR A HOMOLOGOUS HUMAN CHROMOSOME-7Q REGION NEAR THE CYSTIC-FIBROSIS LOCUS [J].

MA, NSF ;

HARRIS, TS ;

WATKINS, P ;

TSUI, LC .

GENOMICS, 1989, 5 (03) :389-396

[36] ISOLATION OF ADDITIONAL POLYMORPHIC CLONES FROM THE CYSTIC-FIBROSIS REGION, USING CHROMOSOME JUMPING FROM D7S8 [J].

IANNUZZI, MC ;

DEAN, M ;

DRUMM, ML ;

HIDAKA, N ;

COLE, JL ;

PERRY, A ;

STEWART, C ;

GERRARD, B ;

COLLINS, FS .

AMERICAN JOURNAL OF HUMAN GENETICS, 1989, 44 (05) :695-703

[37] A CYSTIC-FIBROSIS PATIENT WITH DELTA-F508, G542X AND A DELETION AT THE D7S8 LOCUS [J].

WAGNER, K ;

GREIL, I ;

SCHNEDITZ, P ;

POMMER, M ;

ROSENKRANZ, W .

HUMAN MUTATION, 1994, 3 (03) :327-329

[38] Detection of maternal uniparental disomy at the two imprinted genes on chromosome 7, GRB10 and PEG1/MEST, in a Silver-Russell syndrome patient using methylation-specific PCR assays [J].

Kim, Y ;

Kim, SS ;

Kim, G ;

Park, S ;

Park, IS ;

Yoo, HW .

CLINICAL GENETICS, 2005, 67 (03) :267-269

[39] IDENTIFICATION OF A NOVEL MISSENSE MUTATION (G314E) IN EXON-7 OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE IDENTIFIED IN A CF PATIENT WITH PANCREATIC SUFFICIENCY [J].

GOLLA, A ;

DEUFEL, A ;

AULEHLASCHOLZ, C ;

BOHM, I ;

HILZ, B ;

MEITINGER, T ;

DEUFEL, T .

HUMAN MUTATION, 1994, 3 (01) :67-68

[40] 2 NOVEL RARE FRAMESHIFT MUTATIONS (2423-DEL-G IN EXON-13 AND 1215-DEL-G IN EXON-7) AND ONE NOVEL RARE SEQUENCE VARIATION (3271+18-C OR 3271+18-T) IDENTIFIED IN A PATIENT WITH CYSTIC-FIBROSIS [J].

ROMEY, MC ;

DESGEORGES, M ;

LAUSSEL, M ;

DURAND, MF ;

DEMAILLE, J ;

CLAUSTRES, M .

HUMAN MOLECULAR GENETICS, 1994, 3 (06) :1003-1004

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