Leprechaunism Donohue syndrome insulin receptor gene mutations: A syndrome delineation story from clinicopathological description to molecular understanding

被引：19

作者：

Kosztolanyi, G

机构：

[1] Division of Medical Genetics, Department of Paediatrics, University Medical School

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1997年 / 156卷 / 04期

关键词：

D O I：

10.1007/s004310050594

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

[No abstract available]

引用

页码：253 / 255

页数：3

共 17 条

[1] LEPRECHAUNISM - STUDIES OF THE RELATIONSHIP AMONG HYPERINSULINISM, INSULIN RESISTANCE, AND GROWTH-RETARDATION [J].

DERCOLE, AJ ;

UNDERWOOD, LE ;

GROELKE, J ;

PLET, A .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1979, 48 (03) :495-502

[2] CLINICOPATHOLOGIC CONFERENCE AT THE HOSPITAL-FOR-SICK-CHILDREN [J].

DONOHUE, WL ;

CLARK, DR ;

EDWARDS, HE ;

CHUTE, AL .

JOURNAL OF PEDIATRICS, 1948, 32 (06) :739-748

[3] LEPRECHAUNISM - A EUPHUISM FOR A RARE FAMILIAL DISORDER [J].

DONOHUE, WL ;

UCHIDA, I .

JOURNAL OF PEDIATRICS, 1954, 45 (05) :505-519

[4] THE HUMAN INSULIN-RECEPTOR CDNA - THE STRUCTURAL BASIS FOR HORMONE-ACTIVATED TRANSMEMBRANE SIGNALING [J].

EBINA, Y ;

ELLIS, L ;

JARNAGIN, K ;

EDERY, M ;

GRAF, L ;

CLAUSER, E ;

OU, JH ;

MASIARZ, F ;

KAN, YW ;

GOLDFINE, ID ;

ROTH, RA ;

RUTTER, WJ .

CELL, 1985, 40 (04) :747-758

[5] HOMOZYGOSITY FOR A NULL ALLELE OF THE INSULIN-RECEPTOR GENE IN A PATIENT WITH LEPRECHAUNISM [J].

HONE, J ;

ACCILI, D ;

PSIACHOU, H ;

ALGHBANDZADEH, J ;

MITTON, S ;

WERTHEIMER, E ;

SINCLAIR, L ;

TAYLOR, SI .

HUMAN MUTATION, 1995, 6 (01) :17-22

[6] 2 MUTANT ALLELES OF THE INSULIN-RECEPTOR GENE IN A PATIENT WITH EXTREME INSULIN RESISTANCE [J].

KADOWAKI, T ;

BEVINS, CL ;

CAMA, A ;

OJAMAA, K ;

MARCUSSAMUELS, B ;

KADOWAKI, H ;

BEITZ, L ;

MCKEON, C ;

TAYLOR, SI .

SCIENCE, 1988, 240 (4853) :787-790

[7] LEPRECHAUNISM ( DONOHUES SYNDROME ) [J].

KALLO, A ;

LAKATOS, I ;

SZIJARTO, L .

JOURNAL OF PEDIATRICS, 1965, 66 (02) :372-+

[8] INSULIN RESISTANCE DUE TO A DEFECT DISTAL TO INSULIN RECEPTOR - DEMONSTRATION IN A PATIENT WITH LEPRECHAUNISM [J].

KOBAYASHI, M ;

OLEFSKY, JM ;

ELDERS, J ;

MAKO, ME ;

GIVEN, BD ;

SCHEDWIE, HK ;

FISER, RH ;

HINTZ, RL ;

HORNER, JA ;

RUBENSTEIN, AH .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1978, 75 (07) :3469-3473

[9] HOMOZYGOUS NONSENSE MUTATION IN THE INSULIN-RECEPTOR GENE IN INFANT WITH LEPRECHAUNISM [J].

KROOK, A ;

BRUETON, L ;

ORAHILLY, S .

LANCET, 1993, 342 (8866) :277-278

[10] MOLECULAR SCANNING OF THE INSULIN-RECEPTOR GENE IN SYNDROMES OF INSULIN-RESISTANCE [J].

KROOK, A ;

KUMAR, S ;

LAING, I ;

BOULTON, AJM ;

WASS, JAH ;

ORAHILLY, S .

DIABETES, 1994, 43 (03) :357-368

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