Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1

Neurofibromatosis Type ◽

Mutational Spectrum ◽

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors

Human Mutation ◽

10.1002/humu.10305 ◽

2004 ◽

Vol 23 (2) ◽

pp. 134-146 ◽

Cited By ~ 67

Author(s):

Meena Upadhyaya ◽

Song Han ◽

Claudia Consoli ◽

Elisa Majounie ◽

Martin Horan ◽

...

Keyword(s):

Malignant Tumors ◽

Neurofibromatosis Type ◽

Mutational Spectrum ◽

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

Human Genetics ◽

10.1007/bf01247353 ◽

1993 ◽

Vol 92 (4) ◽

pp. 429-430 ◽

Cited By ~ 53

Author(s):

Conxi L�zaro ◽

Antonia Gaona ◽

Ganfeng Xu ◽

Robert Weiss ◽

Xavier Estivill

Keyword(s):

Neurofibromatosis Type ◽

Repeat Polymorphism ◽

A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features

Clinical Dysmorphology ◽

10.1097/01.mcd.0000077565.66911.43 ◽

2003 ◽

Vol 12 (3) ◽

pp. 199-201 ◽

Cited By ~ 1

Author(s):

Cagatay Oktenli ◽

Mutlu Saglam ◽

Seref Demirbas ◽

Peter Thompson ◽

Meena Upadhyaya ◽

...

Keyword(s):

Mental Retardation ◽

Neurofibromatosis Type ◽

Large Deletion ◽

A deletion in the 5 ′-region of the neurofibromatosis type 1 (NF1) gene

Human Genetics ◽

10.1007/bf02272852 ◽

1994 ◽

Vol 94 (1) ◽

pp. 97-100 ◽

Cited By ~ 5

Author(s):

Sven Hoffmeyer ◽

Günter Assum ◽

Dieter Kaufmann ◽

Kirsten Schwenk ◽

Winfrid Krone

Keyword(s):

Neurofibromatosis Type ◽

Molecular basis of neurofibromatosis type 1 in France: identification and characterization of mutations in the NF1 gene

Journal of the European Academy of Dermatology and Venereology ◽

10.1016/0926-9959(95)95954-y ◽

1995 ◽

Vol 5 (1) ◽

pp. S54

Author(s):

D Vidaud

Keyword(s):

Identification And Characterization

Molecular Basis ◽

Neurofibromatosis Type ◽

Nf1 Gene ◽

Error in Mutation Classification and Data in: Clinical and Mutational Spectrum of Neurofibromatosis Type 1–like Syndrome

JAMA ◽

10.1001/jama.2010.828 ◽

2010 ◽

Vol 303 (24) ◽

pp. 2477

Keyword(s):

Neurofibromatosis Type ◽

Mutational Spectrum

Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene

Human Genetics ◽

10.1007/s004390050427 ◽

1997 ◽

Vol 99 (5) ◽

pp. 674-676 ◽

Cited By ~ 16

Author(s):

Julie Maynard ◽

Michael Krawczak ◽

M. Upadhyaya

Keyword(s):

Neurofibromatosis Type ◽

Novel Mutations ◽

Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2

Human Molecular Genetics ◽

10.1093/hmg/2.4.439 ◽

1993 ◽

Vol 2 (4) ◽

pp. 439-444 ◽

Cited By ~ 23

Author(s):

David I. Rodenhiser ◽

Marion B. Coulter-Mackie ◽

Shiva M. Singh

Keyword(s):

Dna Methylation ◽

Neurofibromatosis Type ◽

Gene Region ◽

A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1

Child s Nervous System ◽

10.1007/s00381-010-1282-z ◽

2010 ◽

Vol 27 (4) ◽

pp. 635-638

Author(s):

Anna Lia Gabriele ◽

Martino Ruggieri ◽

Alessandra Patitucci ◽

Angela Magariello ◽

Francesca Luisa Conforti ◽

...

Keyword(s):

Gene Mutation ◽

Neurofibromatosis Type ◽

Italian Family ◽

Computational insights of K1444N substitution in GAP-related domain of NF1 gene associated with neurofibromatosis type 1 disease: a molecular modeling and dynamics approach

Metabolic Brain Disease ◽

10.1007/s11011-018-0251-1 ◽

2018 ◽

Vol 33 (5) ◽

pp. 1443-1457 ◽

Cited By ~ 19

Author(s):

Ashish Kumar Agrahari ◽

Meghana Muskan ◽

C. George Priya Doss ◽

R. Siva ◽

Hatem Zayed

Keyword(s):

Molecular Modeling ◽

Neurofibromatosis Type ◽