Literature DB >> 15060124

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

C Mattocks1, D Baralle, P Tarpey, C ffrench-Constant, M Bobrow, J Whittaker.   

Abstract

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Year:  2004        PMID： 15060124      PMCID： PMC1735749          DOI： 10.1136/jmg.2003.011890

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


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  24 in total

1.  A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.

Authors:  Anna Lia Gabriele; Martino Ruggieri; Alessandra Patitucci; Angela Magariello; Francesca Luisa Conforti; Rosalucia Mazzei; Maria Muglia; Carmine Ungaro; Gemma Di Palma; Luigi Citrigno; William Sproviero; Antonio Gambardella; Aldo Quattrone
Journal:  Childs Nerv Syst       Date:  2010-10-07       Impact factor: 1.475

2.  Molecular diagnosis of neurofibromatosis type 1: 2 years experience.

Authors:  Siân Griffiths; Peter Thompson; Ian Frayling; Meena Upadhyaya
Journal:  Fam Cancer       Date:  2007       Impact factor: 2.375

3.  Reduced growth of Drosophila neurofibromatosis 1 mutants reflects a non-cell-autonomous requirement for GTPase-Activating Protein activity in larval neurons.

Authors:  James A Walker; Anna V Tchoudakova; Peter T McKenney; Suzanne Brill; Dongyun Wu; Glenn S Cowley; Iswar K Hariharan; André Bernards
Journal:  Genes Dev       Date:  2006-11-17       Impact factor: 11.361

4.  Neurofibromatosis: chronological history and current issues.

Authors:  João Roberto Antônio; Eny Maria Goloni-Bertollo; Lívia Arroyo Trídico
Journal:  An Bras Dermatol       Date:  2013 May-Jun       Impact factor: 1.896

Review 5.  Ras-Specific GTPase-Activating Proteins-Structures, Mechanisms, and Interactions.

Authors:  Klaus Scheffzek; Giridhar Shivalingaiah
Journal:  Cold Spring Harb Perspect Med       Date:  2019-03-01       Impact factor: 6.915

6.  NF1 single and multi-exons copy number variations in neurofibromatosis type 1.

Authors:  Apolline Imbard; Eric Pasmant; Audrey Sabbagh; Armelle Luscan; Magali Soares; Philippe Goussard; Hélène Blanché; Ingrid Laurendeau; Salah Ferkal; Michel Vidaud; Stéphane Pinson; Christine Bellanne-Chantelot; Dominique Vidaud; Pierre Wolkenstein; Béatrice Parfait
Journal:  J Hum Genet       Date:  2015-01-29       Impact factor: 3.172

7.  Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1.

Authors:  Wen Wang; Weibing Qin; Hongsong Ge; Xiangsheng Kong; Chao Xie; Yunge Tang; Ming Li
Journal:  Mol Biol Rep       Date:  2019-06-14       Impact factor: 2.316

8.  Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.

Authors:  Laura Thomas; Gill Spurlock; Claire Eudall; Nick S Thomas; Matthew Mort; Stephen E Hamby; Nadia Chuzhanova; Hilde Brems; Eric Legius; David N Cooper; Meena Upadhyaya
Journal:  Eur J Hum Genet       Date:  2011-11-23       Impact factor: 4.246

9.  Hypoxia-Associated Factor (HAF) Mediates Neurofibromin Ubiquitination and Degradation Leading to Ras-ERK Pathway Activation in Hypoxia.

Authors:  Yangsook Song Green; Timothy Sargis; Ethan Conrad Reichert; Eleanor Rudasi; Daniel Fuja; Eric Jonasch; Mei Yee Koh
Journal:  Mol Cancer Res       Date:  2019-01-31       Impact factor: 5.852

10.  The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

Authors:  Seon-Yong Jeong; Sang-Jin Park; Hyon J Kim
Journal:  J Korean Med Sci       Date:  2006-02       Impact factor: 2.153
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