Literature DB >> 12807981

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.

E Ars1, H Kruyer, M Morell, E Pros, E Serra, A Ravella, X Estivill, C Lázaro.   

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Year:  2003        PMID： 12807981      PMCID： PMC1735494          DOI： 10.1136/jmg.40.6.e82

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


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  71 in total

1.  Perioperative management of neurofibromatosis type 1.

Authors:  Charles J Fox; Samir Tomajian; Aaron J Kaye; Stephanie Russo; Jacqueline Volpi Abadie; Alan D Kaye
Journal:  Ochsner J       Date:  2012

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.  Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.

Authors:  Matthew M Hims; El Chérif Ibrahim; Maire Leyne; James Mull; Lijuan Liu; Conxi Lazaro; Ranjit S Shetty; Sandra Gill; James F Gusella; Robin Reed; Susan A Slaugenhaupt
Journal:  J Mol Med (Berl)       Date:  2007-01-06       Impact factor: 4.599

4.  U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites.

Authors:  Hideki Uchikawa; Katsunori Fujii; Yoichi Kohno; Noriyuki Katsumata; Kazuaki Nagao; Masao Yamada; Toshiyuki Miyashita
Journal:  J Hum Genet       Date:  2007-09-13       Impact factor: 3.172

5.  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

6.  An 80-year experience with optic nerve glioma cases at the Armed Forces Institute of Pathology: evolution from museum to molecular evaluation suggests possibe interventions in the cellular senescence and microglial pathways (an American Ophthalmological Society thesis).

Authors:  J Douglas Cameron; Fausto J Rodriguez; Elisabeth Rushing; Iren Horkayne-Szakaly; Charles Eberhart
Journal:  Trans Am Ophthalmol Soc       Date:  2014

Review 7.  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

8.  A comprehensive survey of human polymorphisms at conserved splice dinucleotides and its evolutionary relationship with alternative splicing.

Authors:  Makoto K Shimada; Yosuke Hayakawa; Jun-ichi Takeda; Takashi Gojobori; Tadashi Imanishi
Journal:  BMC Evol Biol       Date:  2010-04-30       Impact factor: 3.260

9.  Susceptibility to astrocytoma in mice mutant for Nf1 and Trp53 is linked to chromosome 11 and subject to epigenetic effects.

Authors:  Karlyne M Reilly; Robert G Tuskan; Emily Christy; Dagan A Loisel; Jeremy Ledger; Roderick T Bronson; C Dahlem Smith; Shirley Tsang; David J Munroe; Tyler Jacks
Journal:  Proc Natl Acad Sci U S A       Date:  2004-08-19       Impact factor: 11.205

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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