A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition11Edited by M. Yaniv

Novel Mutation ◽

Neurofibromatosis Type ◽

Novel Mutation C.7348C>T in NF1 Gene Identified by Whole-Exome Sequencing in Patient with Overlapping Clinical Symptoms of Neurofibromatosis Type 1 and Bannayan–Riley–Ruvalcaba Syndrome

Cytology and Genetics ◽

10.3103/s0095452720040106 ◽

2020 ◽

Vol 54 (4) ◽

pp. 353-362

Author(s):

Edris Sharif Rahmani ◽

Hasan Azarpara ◽

Mohammad Foad Abazari ◽

Mohammad Reza Mohajeri ◽

Maryam Nasimi ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Clinical Symptoms ◽

Novel Mutation ◽

Neurofibromatosis Type ◽

Whole Exome ◽

A novel mutation in NF1 gene of patient with Neurofibromatosis type 1: A case report and functional study

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.1643 ◽

2021 ◽

Author(s):

Tingting Zhang ◽

Caiwei Jia ◽

Zhiya Dong ◽

Chuanyin Li ◽

Wenli Lu

Keyword(s):

Case Report ◽

Novel Mutation ◽

Neurofibromatosis Type ◽

Functional Study ◽

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 ◽

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

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.1631 ◽

2021 ◽

Author(s):

Nahla Abdel‐Aziz ◽

Ghada El‐Kamah ◽

Rabab Khairat ◽

Hanan Mohamed ◽

Yehia Gad ◽

...

Keyword(s):

Neurofibromatosis Type ◽

Mutational Spectrum ◽

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 ◽

Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke

Journal of the Neurological Sciences ◽

10.1016/j.jns.2005.11.023 ◽

2006 ◽

Vol 243 (1-2) ◽

pp. 53-55 ◽

Cited By ~ 8

Author(s):

Sung-Chun Tang ◽

Ming-Jen Lee ◽

Jiann-Shing Jeng ◽

Ping-Keung Yip

Keyword(s):

Ischemic Stroke ◽

Novel Mutation ◽

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 ◽

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 ◽