Literature DB >> 82088

Possible maternal effect on severity of neurofibromatosis.

M Miller, J G Hall.   

Abstract

62 patients with neurofibromatosis (from 54 families) whose signs or symptoms began in childhood were assessed as to the severity of disease and whether the individual was a new mutation or born to an affected father or mother. The morbidity of disease was much more severe in cases born to affected mothers than in those born to affected fathers or those who were new mutations. This finding suggests that there may be a maternal effect in neurofibromatosis similar to that which has been observed in myotonic dystrophy. This effect may be humorally mediated.

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Year:  1978        PMID: 82088     DOI: 10.1016/s0140-6736(78)91804-4

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


  11 in total

Review 1.  Genomic imprinting: review and relevance to human diseases.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

2.  A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.

Authors:  S M Huson; D A Compston; P Clark; P S Harper
Journal:  J Med Genet       Date:  1989-11       Impact factor: 6.318

3.  A genetic study of neurofibromatosis 1 in south-western Ontario. I. Population, familial segregation of phenotype, and molecular linkage.

Authors:  D I Rodenhiser; M B Coulter-Mackie; J H Jung; S M Singh
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

Review 4.  Clinical and genetic patterns of neurofibromatosis 1 and 2.

Authors:  N K Ragge
Journal:  Br J Ophthalmol       Date:  1993-10       Impact factor: 4.638

5.  Familial neurofibromatosis and juvenile chronic myelogenous leukemia.

Authors:  R D Clark; J J Hutter
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

6.  Genetic aspects of hereditary motor and sensory neuropathy (types I and II).

Authors:  A E Harding; P K Thomas
Journal:  J Med Genet       Date:  1980-10       Impact factor: 6.318

7.  Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas.

Authors:  K J Johnson; M J Fisher; R L Listernick; K N North; E K Schorry; D Viskochil; M Weinstein; J B Rubin; D H Gutmann
Journal:  Fam Cancer       Date:  2012-12       Impact factor: 2.375

8.  Homozygote for Huntington disease.

Authors:  R H Myers; J Leavitt; L A Farrer; J Jagadeesh; H McFarlane; C A Mastromauro; R J Mark; J F Gusella
Journal:  Am J Hum Genet       Date:  1989-10       Impact factor: 11.025

9.  Soft tissue perineurioma and other unusual tumors in a patient with neurofibromatosis type 1.

Authors:  Inga-Marie Schaefer; Philipp Ströbel; Aung Thiha; Jan Martin Sohns; Christian Mühlfeld; Stefan Küffer; Gunther Felmerer; Adam Stepniewski; Silke Pauli; Abbas Agaimy
Journal:  Int J Clin Exp Pathol       Date:  2013-11-15

10.  Hereditary retinoblastoma: lack of maternal effect.

Authors:  E Matsunaga
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

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