Literature DB >> 10691417

NF2 gene deletion in a family with a mild phenotype.

C López-Correa, J Zucman-Rossi, H Brems, G Thomas, E Legius.   

Abstract

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Mesh：

Year:  2000        PMID： 10691417      PMCID： PMC1734455          DOI： 10.1136/jmg.37.1.75

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  4 in total

Review 1.  The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.

Authors:  M E Baser; L Kuramoto; R Woods; H Joe; J M Friedman; A J Wallace; R T Ramsden; S Olschwang; E Bijlsma; M Kalamarides; L Papi; R Kato; J Carroll; C Lázaro; F Joncourt; D M Parry; G A Rouleau; D G R Evans
Journal:  J Med Genet       Date:  2005-07       Impact factor: 6.318

2.  Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study.

Authors:  Michael E Baser; Lisa Kuramoto; Harry Joe; J M Friedman; Andrew J Wallace; James E Gillespie; Richard T Ramsden; D Gareth R Evans
Journal:  Am J Hum Genet       Date:  2004-06-09       Impact factor: 11.025

Review 3.  Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.

Authors:  Tom B Davidson; Pedro A Sanchez-Lara; Linda M Randolph; Mark D Krieger; Shi-Qi Wu; Ashok Panigrahy; Hiroyuki Shimada; Anat Erdreich-Epstein
Journal:  BMC Med Genet       Date:  2012-03-22       Impact factor: 2.103

4.  Characterization of 22q12 Microdeletions Causing Position Effect in Rare NF2 Patients with Complex Phenotypes.

Authors:  Viviana Tritto; Marica Eoli; Rosina Paterra; Serena Redaelli; Marco Moscatelli; Francesco Rusconi; Paola Riva
Journal:  Int J Mol Sci       Date:  2022-09-02       Impact factor: 6.208
  4 in total

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