A clinical study of patients with multiple isolated neurofibromas

被引：14

作者：

Blakley, P

Louis, DN

Short, MP

MacCollin, M

机构：

[1] Massachusetts Gen Hosp, Genet & Teratol Unit, Boston, MA 02114 USA

[2] Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA

[3] Massachusetts Gen Hosp, Dept Neurosurg, Boston, MA 02114 USA

[4] Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA

来源：

JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 07期

关键词：

D O I：

10.1136/jmg.38.7.485

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：485 / 488

页数：4

共 18 条

[1] A clinical variant of neurofibromatosis type 1:: Familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene [J].

Ars, E ;

Kruyer, H ;

Gaona, A ;

Casquero, P ;

Rosell, J ;

Volpini, V ;

Serra, E ;

Lázaro, C ;

Estivill, X .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (04) :834-841

[2]

Betti Roberto, 1997, Journal of Dermatology (Tokyo), V24, P198

[3] Neurological complications of neurofibromatosis type 1 in adulthood [J].

Créange, A ;

Zeller, J ;

Rostaing-Rigattieri, S ;

Brugières, P ;

Degos, JD ;

Revuz, J ;

Wolkenstein, P .

BRAIN, 1999, 122 :473-481

[4]

GOLDGAR DE, 1989, AM J HUM GENET, V44, P6

[5] The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2 [J].

Gutmann, DH ;

Aylsworth, A ;

Carey, JC ;

Korf, B ;

Marks, J ;

Pyeritz, RE ;

Rubenstein, A ;

Viskochil, D .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1997, 278 (01) :51-57

[6] Segmental neurofibromatosis: Case reports and review [J].

Hager, CM ;

Cohen, PR ;

Tschen, JA .

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 1997, 37 (05) :864-869

[7] BENIGN SPINAL NERVE SHEATH TUMORS - THEIR OCCURRENCE SPORADICALLY AND IN NEUROFIBROMATOSIS TYPE-1 AND TYPE-2 [J].

HALLIDAY, AL ;

SOBEL, RA ;

MARTUZA, RL .

JOURNAL OF NEUROSURGERY, 1991, 74 (02) :248-253

[8] VONRECKLINGHAUSEN NEUROFIBROMATOSIS - A CLINICAL AND POPULATION STUDY IN SOUTHEAST WALES [J].

HUSON, SM ;

HARPER, PS ;

COMPSTON, DAS .

BRAIN, 1988, 111 :1355-1381

[9] The parental origin of new mutations in neurofibromatosis 2 [J].

Kluwe, L ;

Mautner, V ;

Parry, DM ;

Jacoby, LB ;

Baser, M ;

Gusella, J ;

Davis, K ;

Stavrou, D ;

MacCollin, M .

NEUROGENETICS, 2000, 3 (01) :17-24

[10] Schwannomatosis: A clinical and pathologic study [J].

MacCollin, M ;

Woodfin, W ;

Kronn, D ;

Short, MP .

NEUROLOGY, 1996, 46 (04) :1072-1079

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