Advances in the understanding of tuberous sclerosis

被引：20

作者：

O'Callaghan, FJ ^{[1
]}

Osborne, JP ^{[1
]}

机构：

[1] Royal United Hosp, Bath BA1 3NG, Avon, England

来源：

ARCHIVES OF DISEASE IN CHILDHOOD | 2000年 / 83卷 / 02期

关键词：

D O I：

10.1136/adc.83.2.140

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：140 / 142

页数：3

共 24 条

[1]

[Anonymous], [No title captured]

[2] Association of tuberous sclerosis of temporal lobes with autism and atypical autism [J].

Bolton, PF ;

Griffiths, PD .

LANCET, 1997, 349 (9049) :392-395

[3] Cortical tuber count: A biomarker indicating neurologic severity of tuberous sclerosis complex [J].

Goodman, M ;

Lamm, SH ;

Engel, A ;

Shepherd, CW ;

Houser, OW ;

Gomez, MR .

JOURNAL OF CHILD NEUROLOGY, 1997, 12 (02) :85-90

[4] THE TUBEROUS SCLEROSIS GENE ON CHROMOSOME 9Q34 ACTS AS A GROWTH SUPPRESSOR [J].

GREEN, AJ ;

JOHNSON, PH ;

YATES, JRW .

HUMAN MOLECULAR GENETICS, 1994, 3 (10) :1833-1834

[5] LOSS OF HETEROZYGOSITY ON CHROMOSOME 16P13.3 IN HAMARTOMAS FROM TUBEROUS SCLEROSIS PATIENTS [J].

GREEN, AJ ;

SMITH, M ;

YATES, JRW .

NATURE GENETICS, 1994, 6 (02) :193-196

[6] The genetics of epiloia [J].

Gunther, M ;

Penrose, LS .

JOURNAL OF GENETICS, 1935, 31 (03) :413-430

[7] Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis [J].

Jones, AC ;

Daniells, CE ;

Snell, RG ;

Tachataki, M ;

Idziaszczyk, SA ;

Krawczak, M ;

Sampson, JR ;

Cheadle, JP .

HUMAN MOLECULAR GENETICS, 1997, 6 (12) :2155-2161

[8] MUTATION AND CANCER - STATISTICAL STUDY OF RETINOBLASTOMA [J].

KNUDSON, AG .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1971, 68 (04) :820-&

[9] Transgenic rescue from embryonic lethality and renal carcinogenesis in the Eker rat model by introduction of a wild-type Tsc2 gene [J].

Kobayashi, T ;

Mitani, H ;

Takahashi, RI ;

Hirabayashi, M ;

Ueda, M ;

Tamura, H ;

Hino, O .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (08) :3990-3993

[10] Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis [J].

Kwiatkowska, J ;

Wigowska-Sowinska, J ;

Napierala, D ;

Slomski, R ;

Kwiatkowski, DJ .

NEW ENGLAND JOURNAL OF MEDICINE, 1999, 340 (09) :703-707

← 1 2 3 →