Neurofibromatosis 1 - Genetics
Research News and Information

Monday, November 23, 2009

Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array.

29 Sep 2009 Neurofibromatosis Type I (NF1) is an autosomal dominant disorder characterized by the development of both benign and malignant tumors. The lifetime risk for developing a malignant peripheral nerve sheath tumor (MPNST) in NF1 patients is ... Read more...

Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.

6 Sep 2009 Neurofibromatosis type 1 (NF1) is a common disorder that arises secondary to mutations in the tumor suppressor gene NF1. Glomus tumors are small, benign but painful tumors that originate from the glomus body, a thermoregulatory shunt concentrated in ... Read more...

Health-related quality of life measures in genetic disorders: an outcome variable for consideration in clinical trials.

13 Aug 2009 The field of medical genetics is rapidly advancing, and therapeutic options to treat genetic syndromes are becoming increasingly available. An understanding of the pathophysiology of various genetic disorders has provided researchers the opportunity ... Read more...

Latest indexed articles for 'Neurofibromatosis 1 - Genetics'

These are the very latest articles for this heading:

• Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array. 29 Sep 2009
• Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association. 6 Sep 2009
• Health-related quality of life measures in genetic disorders: an outcome variable for consideration in clinical trials. 13 Aug 2009
• Diagnostic and management considerations posed by multiple café au lait spots. 30 Jul 2009
• Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis. 5 Jul 2009
• Cardiomyocyte-specific loss of neurofibromin promotes cardiac hypertrophy and dysfunction. 30 Jun 2009
• Malignant myoepithelioma arising in adenomyoepithelioma of the breast and coincident multiple gastrointestinal stromal tumours in a patient with neurofibromatosis type 1. 29 Jun 2009
• Neurofibromatosis type 1. 29 Jun 2009
• Segmental neurofibromatosis type 1 (NF1) associated with Cobb syndrome: case report. 28 Jun 2009
• A novel mutation of the IL12RB1 gene in a child with nocardiosis, recurrent salmonellosis and neurofibromatosis type I: first case report from Thailand. 30 May 2009
• Ras dependent paracrine secretion of osteopontin by Nf1+/- osteoblasts promote osteoclast activation in a neurofibromatosis type I murine model. 30 May 2009
• Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. 30 May 2009
• Giant plexiform neurofibroma in a patient with neurofibromatosis type I. 13 May 2009
• SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. 11 May 2009
• Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. 3 May 2009
• Optic nerve dysfunction in a mouse model of neurofibromatosis-1 optic glioma. 29 Apr 2009
• Neurofibromatosis type 1 and associated malignancies. 29 Apr 2009
• Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. 29 Apr 2009
• Genetics of the hamartomatous polyposis syndromes: a molecular review. 19 Apr 2009
• SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. 12 Apr 2009

See a longer list of these articles.

Technical information about 'Neurofibromatosis 1'

Definition: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).

Descriptor UI: D009456

Alternative terms: Neurofibromatosis 1; NF1 (Neurofibromatosis 1); Recklinghausens Disease of Nerve; Recklinghausen's Disease of Nerve; Recklinghausen Disease, Nerve; von Recklinghausen Disease; von Recklinghausen's Disease; von Recklinghausens Disease; Neurofibromatosis, Peripheral, NF 1; Peripheral Neurofibromatosis; Neurofibromatoses, Peripheral; Neurofibromatosis, Peripheral; Peripheral Neurofibromatoses; Neurofibromatosis I; Neurofibromatosis Type I; I, Neurofibromatosis Type; Type I, Neurofibromatosis; Neurofibromatosis Type 1; Type 1, Neurofibromatosis; Neurofibromatosis, Type 1; Type 1 Neurofibromatosis; Neurofibromatosis, Type I; Neurofibromatoses, Type I; Type I Neurofibromatoses; Neurofibromatosis, Peripheral, NF1; Recklinghausen Disease of Nerve; Watson Syndrome; Syndrome, Watson;

Related Mesh Headings: Noonan Syndrome; Genes, Neurofibromatosis 1; Neurofibromin 1; LEOPARD Syndrome;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; urine; veterinary; ultrasonography; virology;

Tree Number: C04.557.580.600.580.590.650; C04.700.645.650; C10.562.600.500; C10.574.500.549.400; C10.668.829.675; C16.320.400.560.400; C16.320.700.645.650;

History Note: 1992(1966); for NEUROFIBROMATOSIS, PERIPHERAL, NF1 use NEUROFIBROMATOSIS 1989-1991

Technical Notes: do not confuse with NEUROFIBROMATOSIS 2; coord IM with precoord organ/neopl term (IM) if relevant