(Q53311158)

13 May 2018

title

Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1). (English)

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13 May 2018

author

Jan M Friedman

series ordinal

3

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13 May 2018

author name string

Szudek J

series ordinal

1

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13 May 2018

Joe H

series ordinal

2

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13 May 2018

publication date

1 August 2002

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13 May 2018

published in

Genetic Epidemiology

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13 May 2018

volume

23

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13 May 2018

issue

2

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13 May 2018

page(s)

150-164

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13 May 2018

Familial café au lait spots: a variant of neurofibromatosis type 1.

cites work

1 reference

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

21 January 2018

1 reference

A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene

21 January 2018

1 reference

Molecular genetic advances in tuberous sclerosis

21 January 2018

1 reference

A prospective 10 year follow up study of patients with neurofibromatosis type 1

21 January 2018

1 reference

Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children.

21 January 2018

1 reference

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

21 January 2018

1 reference

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

21 January 2018

1 reference

National Neurofibromatosis Foundation International Database.

21 January 2018

1 reference

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

21 January 2018

1 reference

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

21 January 2018

1 reference

Measuring familial aggregation by using odds-ratio regression models

21 January 2018

1 reference

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

21 January 2018

1 reference

Possible maternal effect on severity of neurofibromatosis

21 January 2018

1 reference

Hereditary spinal neurofibromatosis: a rare form of NF1?

21 January 2018

1 reference

NF1 gene and neurofibromatosis 1

21 January 2018

1 reference

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

21 January 2018

1 reference

Growth in North American white children with neurofibromatosis 1 (NF1)

21 January 2018

1 reference

Associations of clinical features in neurofibromatosis 1 (NF1).

21 January 2018

1 reference

Do NF1 gene deletions result in a characteristic phenotype?

21 January 2018

1 reference

Multi-variate probit analysis

21 January 2018

1 reference

7 January 2021

Familial aggregation of blood pressure in a highly inbred community, Abu Ghosh, Israel

1 reference

7 January 2021

Multifactorial qualitative traits: genetic analysis and prediction of recurrence risks

1 reference

7 January 2021

Familial spinal neurofibromatosis: Clinical and DNA linkage analysis

1 reference

7 January 2021

Identifiers

DOI

10.1002/GEPI.1129

1 reference

13 May 2018

1 reference

13 May 2018