Literature DB >> 12746402

NF1 mutations and clinical spectrum in patients with spinal neurofibromas.

L Kluwe, M Tatagiba, C Fünsterer, V-F Mautner.   

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Year:  2003        PMID: 12746402      PMCID: PMC1735482          DOI: 10.1136/jmg.40.5.368

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


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  9 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.  Spinal neurofibromatosis associated with classical neurofibromatosis type 1: genetic characterisation of an atypical case.

Authors:  Kursat bora Carman; Ayten Yakut; Banu Anlar; Sukriye Ayter
Journal:  BMJ Case Rep       Date:  2013-02-14

3.  Ganglioglioma of conus medullaris in a patient of neurofibromatosis type 1: A novel association?

Authors:  Ilangovan Vijay Sundar; Manish Jaiswal; Devendra Purohit; R S Mittal
Journal:  Asian J Neurosurg       Date:  2016 Oct-Dec

Review 4.  Spinal cord tumours: advances in genetics and their implications for treatment.

Authors:  Patricia L Zadnik; Ziya L Gokaslan; Peter C Burger; Chetan Bettegowda
Journal:  Nat Rev Neurol       Date:  2013-03-26       Impact factor: 42.937

5.  Spinal cord ependymoma associated with neurofibromatosis 1 : case report and review of the literature.

Authors:  Hongwei Cheng; Ming Shan; Chunguo Feng; Xiaojie Wang
Journal:  J Korean Neurosurg Soc       Date:  2014-01-31

6.  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

7.  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

8.  Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use.

Authors:  Chetan Bettegowda; Meena Upadhayaya; D Gareth Evans; AeRang Kim; Dimitrios Mathios; Clemens O Hanemann
Journal:  Neurology       Date:  2021-07-06       Impact factor: 11.800

Review 9.  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

  9 in total

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