Literature DB >> 12624144

Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay.

M Baralle, D Baralle, L De Conti, C Mattocks, J Whittaker, A Knezevich, C Ffrench-Constant, F E Baralle.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 12624144      PMCID： PMC1735390          DOI： 10.1136/jmg.40.3.220

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


× No keyword cloud information.
  26 in total

1.  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

Review 2.  Splicing in action: assessing disease causing sequence changes.

Authors:  D Baralle; M Baralle
Journal:  J Med Genet       Date:  2005-10       Impact factor: 6.318

Review 3.  Missed threads. The impact of pre-mRNA splicing defects on clinical practice.

Authors:  Diana Baralle; Anneke Lucassen; Emanuele Buratti
Journal:  EMBO Rep       Date:  2009-08       Impact factor: 8.807

4.  Urinary tract effects of HPSE2 mutations.

Authors:  Helen M Stuart; Neil A Roberts; Emma N Hilton; Edward A McKenzie; Sarah B Daly; Kristen D Hadfield; Jeffery S Rahal; Natalie J Gardiner; Simon W Tanley; Malcolm A Lewis; Emily Sites; Brad Angle; Cláudia Alves; Teresa Lourenço; Márcia Rodrigues; Angelina Calado; Marta Amado; Nancy Guerreiro; Inês Serras; Christian Beetz; Rita-Eva Varga; Mesrur Selcuk Silay; John M Darlow; Mark G Dobson; David E Barton; Manuela Hunziker; Prem Puri; Sally A Feather; Judith A Goodship; Timothy H J Goodship; Heather J Lambert; Heather J Cordell; Anand Saggar; Maria Kinali; Christian Lorenz; Kristina Moeller; Franz Schaefer; Aysun K Bayazit; Stefanie Weber; William G Newman; Adrian S Woolf
Journal:  J Am Soc Nephrol       Date:  2014-08-21       Impact factor: 10.121

5.  Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.

Authors:  Letizia Straniero; Giulia Soldà; Lucy Costantino; Manuela Seia; Paola Melotti; Carla Colombo; Rosanna Asselta; Stefano Duga
Journal:  J Hum Genet       Date:  2016-08-04       Impact factor: 3.172

6.  Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease.

Authors:  Felix Claverie-Martin; Francisco J Gonzalez-Paredes; Elena Ramos-Trujillo
Journal:  RNA Biol       Date:  2015       Impact factor: 4.652

7.  Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.

Authors:  Letizia Straniero; Valeria Rimoldi; Giulia Soldà; Lucia Mauri; Emanuela Manfredini; Elena Andreucci; Sara Bargiacchi; Silvana Penco; Giovanni P Gesu; Alessandra Del Longo; Elena Piozzi; Rosanna Asselta; Paola Primignani
Journal:  J Hum Genet       Date:  2015-05-28       Impact factor: 3.172

8.  Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.

Authors:  Silvia Moncini; Paola Castronovo; Alessandra Murgia; Silvia Russo; Maria Francesca Bedeschi; Marta Lunghi; Angelo Selicorni; Maria Teresa Bonati; Paola Riva; Marco Venturin
Journal:  J Hum Genet       Date:  2015-12-10       Impact factor: 3.172

9.  Upregulation of functional Kv11.1a isoform expression by modified U1 small nuclear RNA.

Authors:  Qiuming Gong; Matthew R Stump; Zhengfeng Zhou
Journal:  Gene       Date:  2017-10-21       Impact factor: 3.688

10.  Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy: Clinical Evaluation and Identification of the Genetic Basis.

Authors:  Jorge L Alió Del Barrio; Doug D Chung; Olena Al-Shymali; Alice Barrington; Kavya Jatavallabhula; Vinay S Swamy; Pilar Yébana; Maria Angélica Henríquez-Recine; Ana Boto-de-Los-Bueis; Jorge L Alió; Anthony J Aldave
Journal:  Am J Ophthalmol       Date:  2019-11-27       Impact factor: 5.258
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.