Congenital pseudarthrosis of neurofibromatosis type 1: Impaired osteoblast differentiation and function and altered NF1 gene expression

Osteoblast Differentiation ◽

Neurofibromatosis Type ◽

Congenital Pseudarthrosis ◽

Nf1 Gene ◽

And Function

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 ◽

Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum

Human Genetics ◽

10.1007/s00439-021-02429-2 ◽

2022 ◽

Author(s):

Yu Zheng ◽

Guanghui Zhu ◽

Yaoxi Liu ◽

Weihua Zhao ◽

Yongjia Yang ◽

...

Keyword(s):

Case Series ◽

Neurofibromatosis Type ◽

Congenital Pseudarthrosis

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 ◽

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 ◽

Neurofibromatosis Type 1 Gene Haploinsufficiency Reduces AP-1 Gene Expression without Abrogating the Anabolic Effect of Parathyroid Hormone

Calcified Tissue International ◽

10.1007/s00223-005-0201-x ◽

2006 ◽

Vol 78 (3) ◽

pp. 162-170 ◽

Cited By ~ 8

Author(s):

X. Yu ◽

J. Milas ◽

N. Watanabe ◽

N. Rao ◽

S. Murthy ◽

...

Keyword(s):

Gene Expression ◽

Parathyroid Hormone ◽

Neurofibromatosis Type ◽

Anabolic Effect