Literature DB >> 25865364

Spinal neurofibromatosis and phenotypic heterogeneity in NF1.

Bruce R Korf1.   

Abstract

Entities:  

Mesh:

Year:  2015        PMID: 25865364     DOI: 10.1111/cge.12532

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


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  3 in total

1.  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

2.  Spinal neurofibromatosis with NF1 mutation in a classic neurofibromatosis type 1 family: A case report and literature review.

Authors:  Zeqian Ning; Zhiqian Yang; Gaofei Chen; Wenjiao Wu; Longshuang He; Yesheng Sun; Dongpeng Cai; Wei Zhang
Journal:  Mol Genet Genomic Med       Date:  2019-11-11       Impact factor: 2.183

3.  Case report: Bilateral spinal neurofibromatosis.

Authors:  Ali Baradaran Bagheri; Sepehr Aghajanian; Aliasghar Taghi Doulabi; Mehdi Chavoshi-Nejad; Somayeh Sorouredin Abadi
Journal:  Front Neurol       Date:  2022-08-12       Impact factor: 4.086

  3 in total

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