Literature DB >> 15863657

Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1.

L M Messiaen, K Wimmer.   

Abstract

Entities:  

Mesh：

Year:  2005        PMID： 15863657      PMCID： PMC1736046     

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


× No keyword cloud information.
  5 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

2.  An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

Authors:  M Upadhyaya; S M Huson; M Davies; N Thomas; N Chuzhanova; S Giovannini; D G Evans; E Howard; B Kerr; S Griffiths; C Consoli; L Side; D Adams; M Pierpont; R Hachen; A Barnicoat; H Li; P Wallace; J P Van Biervliet; D Stevenson; D Viskochil; D Baralle; E Haan; V Riccardi; P Turnpenny; C Lazaro; L Messiaen
Journal:  Am J Hum Genet       Date:  2006-12-08       Impact factor: 11.025

3.  Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Authors:  Eric Pasmant; Béatrice Parfait; Armelle Luscan; Philippe Goussard; Audrey Briand-Suleau; Ingrid Laurendeau; Corinne Fouveaut; Chrystel Leroy; Annelore Montadert; Pierre Wolkenstein; Michel Vidaud; Dominique Vidaud
Journal:  Eur J Hum Genet       Date:  2014-07-30       Impact factor: 4.246

4.  High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Authors:  Kitiwan Rojnueangnit; Jing Xie; Alicia Gomes; Angela Sharp; Tom Callens; Yunjia Chen; Ying Liu; Meagan Cochran; Mary-Alice Abbott; Joan Atkin; Dusica Babovic-Vuksanovic; Christopher P Barnett; Melissa Crenshaw; Dennis W Bartholomew; Lina Basel; Gary Bellus; Shay Ben-Shachar; Martin G Bialer; David Bick; Bruce Blumberg; Fanny Cortes; Karen L David; Anne Destree; Anna Duat-Rodriguez; Dawn Earl; Luis Escobar; Marthanda Eswara; Begona Ezquieta; Ian M Frayling; Moshe Frydman; Kathy Gardner; Karen W Gripp; Concepcion Hernández-Chico; Kurt Heyrman; Jennifer Ibrahim; Sandra Janssens; Beth A Keena; Isabel Llano-Rivas; Kathy Leppig; Marie McDonald; Vinod K Misra; Jennifer Mulbury; Vinodh Narayanan; Naama Orenstein; Patricia Galvin-Parton; Helio Pedro; Eniko K Pivnick; Cynthia M Powell; Linda Randolph; Salmo Raskin; Jordi Rosell; Karol Rubin; Margretta Seashore; Christian P Schaaf; Angela Scheuerle; Meredith Schultz; Elizabeth Schorry; Rhonda Schnur; Elizabeth Siqveland; Amanda Tkachuk; James Tonsgard; Meena Upadhyaya; Ishwar C Verma; Stephanie Wallace; Charles Williams; Elaine Zackai; Jonathan Zonana; Conxi Lazaro; Kathleen Claes; Bruce Korf; Yolanda Martin; Eric Legius; Ludwine Messiaen
Journal:  Hum Mutat       Date:  2015-08-21       Impact factor: 4.878

5.  KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth.

Authors:  Corina Anastasaki; Sonika Dahiya; David H Gutmann
Journal:  Oncotarget       Date:  2017-07-18
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.