DETECTION OF Y-MOSAICISM IN PATIENTS WITH TURNERS-SYNDROME

被引：20

作者：

CHU, CE

CONNOR, JM

DONALDSON, MDC

KELNAR, CJH

SMAIL, PJ

GREENE, SA

机构：

[1] ROYAL HOSP SICK CHILDREN,DEPT CHILD HLTH,GLASGOW G3 8SJ,LANARK,SCOTLAND

[2] ROYAL ABERDEEN CHILDRENS HOSP,ABERDEEN,SCOTLAND

[3] NINEWELLS HOSP,DUNDEE DD1 9SY,SCOTLAND

[4] CHILD LIFE & HLTH,EDINBURGH,MIDLOTHIAN,SCOTLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 07期

关键词：

D O I：

10.1136/jmg.32.7.578

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：578 / 580

页数：3

共 28 条

[1] ON THE NATURE AND EXTENT OF XY PAIRING AT MEIOTIC PROPHASE IN MAN [J].

CHANDLEY, AC ;

GOETZ, P ;

HARGREAVE, TB ;

JOSEPH, AM ;

SPEED, RM .

CYTOGENETICS AND CELL GENETICS, 1984, 38 (04) :241-247

[2] POSSIBLE ROLE OF IMPRINTING IN THE TURNER PHENOTYPE [J].

CHU, CE ;

DONALDSON, MDC ;

KELNAR, CJH ;

SMAIL, PJ ;

GREENE, SA ;

PATERSON, WF ;

CONNOR, JM .

JOURNAL OF MEDICAL GENETICS, 1994, 31 (11) :840-842

[3] POPULATION-STRUCTURE OF THE HUMAN PSEUDOAUTOSOMAL BOUNDARY [J].

ELLIS, N ;

TAYLOR, A ;

BENGTSSON, BO ;

KIDD, J ;

ROGERS, J ;

GOODFELLOW, P .

NATURE, 1990, 344 (6267) :663-665

[4] MUTATIONAL ANALYSIS OF SRY - NONSENSE AND MISSENSE MUTATIONS IN XY SEX REVERSAL [J].

HAWKINS, JR ;

TAYLOR, A ;

BERTA, P ;

LEVILLIERS, J ;

VANDERAUWERA, B ;

GOODFELLOW, PN .

HUMAN GENETICS, 1992, 88 (04) :471-474

[5] THE DISTRIBUTION OF CHROMOSOMAL GENOTYPES ASSOCIATED WITH TURNERS SYNDROME - LIVEBIRTH PREVALENCE RATES AND EVIDENCE FOR DIMINISHED FETAL MORTALITY AND SEVERITY IN GENOTYPES ASSOCIATED WITH STRUCTURAL-X ABNORMALITIES OR MOSAICISM [J].

HOOK, EB ;

WARBURTON, D .

HUMAN GENETICS, 1983, 64 (01) :24-27

[6]

HOOK EB, 1977, AM J HUM GENET, V29, P94

[7] A CYTOGENETIC AND MOLECULAR REAPPRAISAL OF A SERIES OF PATIENTS WITH TURNERS SYNDROME [J].

JACOBS, PA ;

BETTS, PR ;

COCKWELL, AE ;

CROLLA, JA ;

MACKENZIE, MJ ;

ROBINSON, DO ;

YOUINGS, SA .

ANNALS OF HUMAN GENETICS, 1990, 54 :209-223

[8] NUCLEOLAR TRANSCRIPTION FACTOR HUBF CONTAINS A DNA-BINDING MOTIF WITH HOMOLOGY TO HMG PROTEINS [J].

JANTZEN, HM ;

ADMON, A ;

BELL, SP ;

TJIAN, R .

NATURE, 1990, 344 (6269) :830-836

[9] DETECTION OF Y-CHROMOSOME SEQUENCES IN TURNERS-SYNDROME BY SOUTHERN BLOT ANALYSIS OF AMPLIFIED DNA [J].

KOCOVA, M ;

SIEGEL, SF ;

WENGER, SL ;

LEE, PA ;

TRUCCO, M .

LANCET, 1993, 342 (8864) :140-143

[10] AN IMPROVED METHOD FOR PRENATAL-DIAGNOSIS OF GENETIC-DISEASES BY ANALYSIS OF AMPLIFIED DNA-SEQUENCES - APPLICATION TO HEMOPHILIA-A [J].

KOGAN, SC ;

DOHERTY, M ;

GITSCHIER, J .

NEW ENGLAND JOURNAL OF MEDICINE, 1987, 317 (16) :985-990

← 1 2 3 →