Literature DB >> 12807969

Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring.

A Moyhuddin, M E Baser, C Watson, S Purcell, R T Ramsden, A Heiberg, A J Wallace, D G R Evans.   

Abstract

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Year:  2003        PMID： 12807969      PMCID： PMC1735486          DOI： 10.1136/jmg.40.6.459

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


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  28 in total

Review 1.  Neurofibromatosis type 2.

Authors:  Ashok R Asthagiri; Dilys M Parry; John A Butman; H Jeffrey Kim; Ekaterini T Tsilou; Zhengping Zhuang; Russell R Lonser
Journal:  Lancet       Date:  2009-05-22       Impact factor: 79.321

2.  Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.

Authors:  Camille Louvrier; Eric Pasmant; Audrey Briand-Suleau; Joëlle Cohen; Patrick Nitschké; Juliette Nectoux; Lucie Orhant; Cécile Zordan; Cyril Goizet; Stéphane Goutagny; Dominique Lallemand; Michel Vidaud; Dominique Vidaud; Michel Kalamarides; Béatrice Parfait
Journal:  Neuro Oncol       Date:  2018-06-18       Impact factor: 12.300

Review 3.  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

Review 4.  News on the genetics, epidemiology, medical care and translational research of Schwannomas.

Authors:  C O Hanemann; D G Evans
Journal:  J Neurol       Date:  2006-12       Impact factor: 4.849

Review 5.  Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes.

Authors:  Fausto J Rodriguez; Constantine A Stratakis; D Gareth Evans
Journal:  Acta Neuropathol       Date:  2011-12-31       Impact factor: 17.088

6.  Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.

Authors:  Miriam J Smith; Andrew J Wallace; Naomi L Bowers; Cecilie F Rustad; C Geoff Woods; Guy D Leschziner; Rosalie E Ferner; D Gareth R Evans
Journal:  Neurogenetics       Date:  2012-03-22       Impact factor: 2.660

7.  Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome.

Authors:  Erin E Salo-Mullen; Jinru Shia; Isaac Brownell; Peter Allen; Monica Girotra; Mark E Robson; Kenneth Offit; Jose G Guillem; Arnold J Markowitz; Zsofia K Stadler
Journal:  Fam Cancer       Date:  2014-09       Impact factor: 2.375

8.  Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms.

Authors:  D G R Evans; E R Maher; M E Baser
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

9.  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 10.  Neurofibromatosis type 2 (NF2): a clinical and molecular review.

Authors:  D Gareth R Evans
Journal:  Orphanet J Rare Dis       Date:  2009-06-19       Impact factor: 4.123
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