Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

PubWeight™: 0.81‹?›

🔗 View Article (PMID 25966637)

Published in Eur J Hum Genet on May 13, 2015

Authors

Claudia Santoro1, Anna Maietta1, Teresa Giugliano2, Daniela Melis3, Silverio Perrotta1, Vincenzo Nigro2,4, Giulio Piluso2

Author Affiliations

1: Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Seconda Università degli Studi di Napoli, Napoli, Italy.
2: Dipartimento di Biochimica Biofisica e Patologia Generale, Seconda Università degli Studi di Napoli, Napoli, Italy.
3: Dipartimento di Pediatria, Università degli Studi di Napoli "Federico II", Napoli, Italy.
4: Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli (NA), Italy.

Articles cited by this

SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information. Nucleic Acids Res (2014) 8.86

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell (1990) 8.10

An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet (1993) 2.79

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet (2006) 2.23

Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney. Am J Med Genet A (2004) 1.67

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. Am J Hum Genet (1994) 1.56

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat (2010) 1.47

A novel bipartite phospholipid-binding module in the neurofibromatosis type 1 protein. EMBO Rep (2006) 1.33

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Hum Mol Genet (2009) 1.21

Molecular diagnosis of neurofibromatosis type 1: 2 years experience. Fam Cancer (2007) 1.07

Assessment of executive function and attention in children with neurofibromatosis type 1: relationships between cognitive measures and real-world behavior. Child Neuropsychol (2011) 1.06

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? Hum Genomics (2012) 1.02

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas. Eur J Hum Genet (2014) 1.00

Cognitive and psychosocial phenotype of young children with neurofibromatosis-1. J Int Neuropsychol Soc (2013) 0.80