Literature DB >> 12566521

Independent NF1 mutations in two large families with spinal neurofibromatosis.

L Messiaen, V Riccardi, J Peltonen, O Maertens, T Callens, S L Karvonen, E-L Leisti, J Koivunen, I Vandenbroucke, K Stephens, M Pöyhönen.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 12566521      PMCID： PMC1735368          DOI： 10.1136/jmg.40.2.122

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


× No keyword cloud information.
  5 in total

1.  Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion.

Authors:  Antonio Pizzuti; Irene Bottillo; Francesca Inzana; Valentina Lanari; Francesca Buttarelli; Isabella Torrente; Anna Teresa Giallonardo; Alessandro De Luca; Bruno Dallapiccola
Journal:  Neurogenetics       Date:  2011-03-02       Impact factor: 2.660

2.  The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.

Authors:  Meena Upadhyaya; Gill Spurlock; Lan Kluwe; Nadia Chuzhanova; Emma Bennett; Nick Thomas; Abhijit Guha; Victor Mautner
Journal:  Neurogenetics       Date:  2009-02-17       Impact factor: 2.660

3.  Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:  Magdalena Koczkowska; Tom Callens; Yunjia Chen; Alicia Gomes; Alesha D Hicks; Angela Sharp; Eric Johns; Kim Armfield Uhas; Linlea Armstrong; Katherine Armstrong Bosanko; Dusica Babovic-Vuksanovic; Laura Baker; Donald G Basel; Mario Bengala; James T Bennett; Chelsea Chambers; Lola K Clarkson; Maurizio Clementi; Fanny M Cortés; Mitch Cunningham; M Daniela D'Agostino; Martin B Delatycki; Maria C Digilio; Laura Dosa; Silvia Esposito; Stephanie Fox; Mary-Louise Freckmann; Christine Fauth; Teresa Giugliano; Sandra Giustini; Allison Goetsch; Yael Goldberg; Robert S Greenwood; Cristin Griffis; Karen W Gripp; Punita Gupta; Eric Haan; Rachel K Hachen; Tamara L Haygarth; Concepción Hernández-Chico; Katelyn Hodge; Robert J Hopkin; Louanne Hudgins; Sandra Janssens; Kory Keller; Geraldine Kelly-Mancuso; Aaina Kochhar; Bruce R Korf; Andrea M Lewis; Jan Liebelt; Angie Lichty; Robert H Listernick; Michael J Lyons; Isabelle Maystadt; Mayra Martinez Ojeda; Carey McDougall; Lesley K McGregor; Daniela Melis; Nancy Mendelsohn; Malgorzata J M Nowaczyk; June Ortenberg; Karin Panzer; John G Pappas; Mary Ella Pierpont; Giulio Piluso; Valentina Pinna; Eniko K Pivnick; Dinel A Pond; Cynthia M Powell; Caleb Rogers; Noa Ruhrman Shahar; S Lane Rutledge; Veronica Saletti; Sarah A Sandaradura; Claudia Santoro; Ulrich A Schatz; Allison Schreiber; Daryl A Scott; Elizabeth A Sellars; Ruth Sheffer; Elizabeth Siqveland; John M Slopis; Rosemarie Smith; Alberto Spalice; David W Stockton; Haley Streff; Amy Theos; Gail E Tomlinson; Grace Tran; Pamela L Trapane; Eva Trevisson; Nicole J Ullrich; Jenneke Van den Ende; Samantha A Schrier Vergano; Stephanie E Wallace; Michael F Wangler; David D Weaver; Kaleb H Yohay; Elaine Zackai; Jonathan Zonana; Vickie Zurcher; Kathleen B M Claes; Marica Eoli; Yolanda Martin; Katharina Wimmer; Alessandro De Luca; Eric Legius; Ludwine M Messiaen
Journal:  Hum Mutat       Date:  2019-10-26       Impact factor: 4.878

4.  Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

Authors:  Emma Mm Burkitt Wright; Emma Sach; Saba Sharif; Oliver Quarrell; Thomas Carroll; Richard W Whitehouse; Meena Upadhyaya; Susan M Huson; D Gareth R Evans
Journal:  J Med Genet       Date:  2013-06-28       Impact factor: 6.318

Review 5.  Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

Authors:  Heather B Radtke; Courtney D Sebold; Caroline Allison; Joy Larsen Haidle; Gretchen Schneider
Journal:  J Genet Couns       Date:  2007-07-17       Impact factor: 2.537
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.