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Topic: NF1

	NF1 Gene and Neurofibromatosis 1, BD, NCBDDD, CDC
		NF1 Gene and Neurofibromatosis 1, BD, NCBDDD, CDC
		Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is caused by mutations of the NF1 gene, which is located at chromosome 17q11.2.
		Average life expectancy of patients with NF1 is probably reduced by at least 10 to 15 years, with malignancy as the most common cause of death.
	www.cdc.gov /ncbddd/bd/nf1sonja.htm (229 words)

	Medical Observer Weekly
		NF1 is characterised by a number of different features that commonly occur together.
		NF1 is a progressive disease; that is, it tends to get worse with age.
		Once a person is diagnosed with NF1 it is important that all their immediate (first-degree) relatives are checked for the disease.
	www.medobs.com.au /patienthandout/displayhandout.asp?ID=154 (455 words)

	eMedicine - Neurofibromatosis : Article by Alvin H Crawford, MD, FACS
		Kyphosis observed in individuals with NF1 is distinguished by acute anteroposterior angulation.
		Etiology: NF1 is one of the most common single-gene disorders known to man. Approximately 50% of all NF1 cases are due to new mutations; this is 100-fold higher than the usual mutation rate for a single locus and may reflect the huge size of the NF1 locus (estimated to be 350,000 base pairs).
		NF1 can be clearly distinguished from central neurofibromatosis or NF2, which is also an autosomal dominant disorder.
	www.emedicine.com /orthoped/topic525.htm (4128 words)

	British Columbia Neurofibromatosis Foundation - (Site not responding. Last check: 2007-10-12)
		Neurofibromatosis 1 (NF1) is the most common single gene disorder to affect the human nervous system with and incidence of 1 in 3000.
		NF1 is characterized by the presence of neurocutaneous stigmata such as café-au-lait spots, axillary freckling and cutaneous neurofibromas, and iris hamartomas (Lisch nodules).
		The incidence of Lisch nodules in NF1 increases markedly with age; by the age of five years, only 22% of patients had Lisch nodules, whereas by 20 years of age 96 to 100% of patients have the lesions on slit lamp examination.
	www.bcnf.bc.ca /nf1.html (820 words)

	Final Diagnosis -- Case 389
		A large number of systemic manifestations of NF1 are described, including: visceral involvement (neurofibromas, cardiac rhabdomyoma, carcinoid tumors, malignant nerve sheath tumors, rhabdomyosarcoma), skeletal deformities (sphenoid wing dysplasia, kyphoscoliosis), pheochromocytomas, chronic myelogenous leukemia, mental retardation, learning disabilities, macrocephaly and stenosis of the aqueduct of Sylvius with subsequent obstructive hydrocephalus.
		It is seen only in patients with NF1 and appears on the first decade as an infiltrating lesion involving all aspects of the orbit and producing deformity of the region.
		Also, NF1 patients with optic gliomas have a tendency to develop a second primary neoplasm of the CNS (6,7, 8) found in up to 52% of patients and identified on average four years after the diagnosis of the optic glioma.
	path.upmc.edu /cases/case389/dx.html (2193 words)

	Neurofibromatosis 1
		NF1 is characterized by extreme clinical variability, not only between unrelated individuals and among affected individuals within a single family but even within a single individual with NF1 at different times in life.
		NF1 mutation will almost certainly develop features of NF1, but the disease may be considerably more (or less) severe in an affected child than in his or her affected parent.
		NF1 mutations in one family and advised caution in assuming that the same mutation is present in all members of an affected family.
	www.geneclinics.org /profiles/nf1/details.html (5638 words)

	Neurofibromatosis Type 1 - Diagnosis and Treatment Options at Mayo Clinic
		Though NF1 is chronic and progressive, most people with the disorder have a normal life expectancy and symptoms can be managed with proper attention.
		Up to half of all people with NF1 do not have a parent with the disease — but they can pass it on to their own children.
		NF1 is caused by mutation in a gene (on chromosome 17) that makes a protein called neurofibromin.
	www.mayoclinic.org /neurofibromatosis-nf1 (508 words)

	NF1 Research Laboratory Home Page
		NF1 is a common hereditary disease which predisposes affected individuals to tumors of the central and peripheral nervous systems.
		The protein encoded by the NF1 gene, neurofibromin, is a member of the class of negative growth regulatory proteins called tumor suppressors.
		Expression of the NF1 gene is complex, with at least four alternatively spliced transcripts produced in a developmentally regulated manner.
	www.skuse.com /nf1lab/lab.html (357 words)

	NF, Inc. Homepage - Ann-Marie Yest, M.D.
		Although in both NF1 and NF2, 100% of the people who have the genes are affected by the disorder, there is a much higher degree of variability in the symptoms of NF 1, because the mutations can occur in different spots on the larger gene (variable penetrance).
		Most NF1 patients with optic gliomas have a grade II astrocytoma which is a relatively benign tumor and has a 90% long term survival.
		Tumors that arise from the neural sheath are the schwannomas, neurofiromas, and the malignant nerve sheath tumors.
	www.nfinc.org /text/neuro1.html (2978 words)

	Newly-discovered role for Nf1 gene explains heart abnormalities associated with neurofibromatosis
		In both endothelial and neural crest cells, the Nf1 gene encodes neurofibromin, a protein that suppresses the ras oncogene, thereby suppressing tumors.
		Conversely, Nf1 function in the neural crest is not required for normal heart development.
		In mice bred to lack the Nf1 gene, the neurofibromin deficiency had a much stronger effect on cardiac cells than it does in humans, causing cardiac abnormalities so severe that they did not survive to birth.
	www.eurekalert.org /pub_releases/2002-12/uopm-nrf120502.php (534 words)

	eMedicine - Neurofibromatosis, Type 1 : Article by Beth A Pletcher, MD
		NF type 1 (NF1) is differentiated from central NF or NF type 2 in which patients demonstrate a relative paucity of cutaneous findings but have a high incidence of meningiomas and acoustic neuromas (which are frequently bilateral).
		Macrocephaly is common in NF1 and should not cause undo alarm if present in affected infants or young children, unless serial head circumference measurements confirm the rapid crossing of percentiles.
		Following patients with NF1 when scoliosis is first detected is advisable, so that nonsurgical approaches may be used in an attempt to obviate the need for a future spinal fusion procedure.
	www.emedicine.com /NEURO/topic248.htm (5122 words)

	Abstracts, JCMS, Vol. 1(3) (Site not responding. Last check: 2007-10-12)
		Neurofibromatosis 1 (NF1) is an autosomal dominant disorder characterized by neurofibromas, café-au-lait macules, and axillary freckling.
		Methods: A patient with both NF1 and a systematized epidermal nevus underwent physical examination, skin biopsies, ophthalmologic and neurologic examinations, laboratory analysis, chest and lumbosacral spine films, computed tomographic scan of the head, and renal sonogram.
		NF1 and epidermal nevi have been shown to have specific gene defects on different chromosomes.
	www.dermatology.org /jcms/abstracts_1_3/meyerson.html (465 words)

	Directory of open access journals (Site not responding. Last check: 2007-10-12)
		The expression of NF1 protein was noted to be highly elevated in the periderm at 8 weeks estimated gestational age (EGA) and in the basal cells at 8–14 weeks EGA.
		During this period, NF1 protein was associated with cytokeratin filaments terminating to desmosomes and hemidesmosomes.
		NF1 tumor suppressor may function in the regulation of epidermal histogenesis via controlling the organization of the keratin cytoskeleton during the assembly of desmosomes and hemidesmosomes.
	www.doaj.org /abstract?id=81376&toc=y (272 words)

	ARUP: Chromosome Analysis, FISH (Detecting Deletions of NF1 Gene) (Site not responding. Last check: 2007-10-12)
		FISH testing for NF1 deletions is indicated in individuals who have been diagnosed with NF1 by clinical criteria.
		NF1 analysis is conducted by metaphase FISH performed on cells from peripheral blood or other tissues as needed.
		This test is not a substitute for diagnostic assessment of NF1 by application of the clinical diagnostic criteria.
	www.aruplab.com /guides/clt/tests/clt_a167.jsp (518 words)

	Neurofibromatosis Type 1 (NF1) - FISH Analysis
		NF1 is an autosomal dominant disorder with a very high rate of new mutations.
		Deletions of the NF1 gene occur in approximately 5% of all patients with NF1.
		The majority of patients with NF1 have other mutations in the NF1 gene not detected with this FISH assay.
	www.bcmgeneticlabs.org /tests/cyto/nf1.html (349 words)

	[No title] (Site not responding. Last check: 2007-10-12)
		We used lateral radiographic films of lumbar vertebrae from 13 NF1 children with scoliosis and 14 non-NF1 scoliosis patients to derive a scalloping ratio, which was estimated by taking three width measurements from each vertebra: superior, inferior, and waist.
		Scalloping ratios from the NF1 patients are bimodal, with 31% exhibiting ratios greater than 1.20.
		Further studies are needed to define the natural history and pathogenesis of vertebral scalloping and to determine whether it contributes to the severity or progression of scoliosis in NF1 patients.
	www.medgen.ubc.ca /friedmanlab/vertscal/vertebral.html (286 words)

	Neurofibromatosis Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
		Symptoms of NF1, particularly those on the skin, are often evident at birth or during infancy and almost always by the time a child is about 10 years old.
		Surgery can help some NF1 bone malformations and remove painful or disfiguring tumors; however, there is a chance that the tumors may grow back and in greater numbers.
		The similarity of the NF1 protein to GAP proteins suggests that the NF1 protein may have a similar switching role in the development of neurofibromas.
	www.ninds.nih.gov /disorders/neurofibromatosis/neurofibromatosis.htm (867 words)

	Nf1 tumor suppressor in skin:
		NF1 protein (neurofibromin) contains a domain which is related to the GTPase activating protein (GAP) and accelerates the switch of active ras-GTP to inactive ras-GDP.
		In the present study, the expression of the NF1 gene was investigated during tissue repair in human skin.
		The results demonstrate that the function of NF1 is associated with the formation of cell junctions, and thus to cellular communication.
	herkules.oulu.fi /isbn9514266463/html (940 words)

	Neurofibromatosis Type 1 (NF1)
		The commonest form of NF is NF1 which affects about 1 in 3,500 people.
		The gene affected in NF1 is located on chromosome 17.
		Each person with NF1, even within the same family can be affected to a different extent.
	www.nfaa.org.au /resources/nf1.html (518 words)

	Limited contribution of interchromosomal gene conversion to NF1 gene mutation -- Luijten et al. 38 (7): 481 -- Journal ...
		that the NF1 pseudogenes on chromosomes 2, 14, and 22 have arisen
		are represented in the NF1 pseudogenes on chromosomes 2 and 14.
		The maximum length of the corresponding segments of the functional gene of the NF1 pseudogenes on chromosomes 2 and 14 is denoted by a dashed line.
	jmg.bmjjournals.com /cgi/content/full/38/7/481 (1933 words)

	Neurofibromatosis (NF1, NF2). DermNet NZ
		NF1 and NF2 occur as a result of defects in different genes.
		NF1 is caused by a mutation on a gene located on chromosome 17 and NF2 on chromosome 22.
		The severity of cutaneous involvement in NF1 is not an indicator of the extent of the disease as internal manifestations are common and are often more serious.
	www.dermnetnz.org /systemic/neurofibromatosis.html (770 words)

	Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. (Site not responding. Last check: 2007-10-12)
		Human neurofibromatosis type 1 is a dominant disease caused by the inheritance of a mutant allele of the NF1 gene.
		In order to study NF1 function, we have constructed a mouse strain carrying a germline mutation in the murine homologue.
		The wild-type Nf1 allele is lost in approximately half of the tumours from heterozygous animals.
	www.bioscience.org /knockout/ref/jacks.htm (152 words)

	Cardiac And Other Vascular Abnormalities In NF1 (Site not responding. Last check: 2007-10-12)
		Pulmonic stenosis is a well-recognized component of Watson syndrome, a variant of NF1, but the incidence of cardiovascular malformations in other patients with NF1 has not been well defined.
		Murmurs and "possible heart defects" that had not been clearly delineated were excluded from the analysis, as were 7 cases of renal artery stenosis, a peripheral vascular anomaly.
		The pathological abnormalities associated with NF1 are not restricted to cells of neural crest origin.
	www.medgen.ubc.ca /friedmanlab/cardiac.html (268 words)

	NF1 - Genetics Home Reference (Site not responding. Last check: 2007-10-12)
		neurofibromatosis 1 - caused by mutations in the NF1 gene
		A large percentage of the mutations in the NF1 gene result in an extremely short version of neurofibromin.
		The NF1 gene is located on the long (q) arm of chromosome 17 at position 11.2.
	ghr.nlm.nih.gov /ghr/gene/nf1 (514 words)

	Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients -- Ars et al. 40 (6): 82 -- ...
		a NF1 mutation (45%) harbour a recurrent mutation.
		The NF1 mutation was characterised in nine of the 18 patients
		NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
	jmg.bmjjournals.com /cgi/content/full/40/6/e82 (4122 words)

	Growth Patterns In People With NF1 (Site not responding. Last check: 2007-10-12)
		The HC of NF1 patients is larger than the standard, in both sexes, and in every age category.
		Mean HC in NF1 patients increases gradually with age in comparison to the standard through at least the first 20 years of life.
		The shape of the height and HC distributions indicate that these difference in head growth and height affect all NF1 patients to some degree and are not restricted to a subset of NF1 patients.
	www.medgen.ubc.ca /friedmanlab/growthpatterns/growthpatterns.html (592 words)

	NF1 - Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) - Cancer GeneticsWeb
		NF1; Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
		A hetrogeneous range of NF1 mutations have been identified in NF patients and there is no clear relationship reported between specific NF1 mutations and the clinical variations of the disease.
		International NF1 Genetic Mutation Analysis Consortium The consortium was established in 1992 and is managed by Dr Bruce Korf, Harvard Medical School, USA.
	www.cancerindex.org /geneweb/NF1.htm (357 words)

	NF1 GeneCard
		NF1 shows greater affinity for Ras GAP, but lower
		in suppression of NF1 tumor and in juvenile myelomonocytic leukemia
		the gene NF1 for the pathways selected above.
	www.genecards.org /cgi-bin/carddisp.pl?gene=NF1 (584 words)

	Malignancy in Neurofibromatosis Type 1 -- Korf 5 (6): 477 -- The Oncologist
		NF1 is diagnosed on the basis of clinical criteria (Table 2
		Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders.
		Nf1 regulates hematopoietic progenitor cell growth and ras signaling in response to multiple cytokines.
	theoncologist.alphamedpress.org /cgi/content/full/5/6/477 (4342 words)

	BioMed Central \| Abstract \| Do hormonal contraceptives stimulate growth of neurofibromas? A survey on 59 NF1 patients
		Neurofibromas are benign tumors of the peripheral nerves and hallmark of neurofibromatosis type 1 (NF1), a tumor suppressor gene syndrome.
		Many female NF1 patients are thus concerned about the possibility that hormonal contraceptives may stimulate the growth of their neurofibromas.
		A survey was carried out on 59 female NF1 patients who are practicing or have practiced hormonal contraception to examine the effect of the various contraceptives on the growth of neurofibromas.
	www.biomedcentral.com /1471-2407/5/16/abstract (193 words)

	Autism autism and nf1
		Picking the leading autism and nf1 sources is an involved process.
		I'm sure that you'll be pleased with all the research we've done for you about autism and nf1 and pick out just a couple of the very best sites for you to visit.
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	www.go-seekit.com /autism/autism-and-nf1.htm (218 words)

	Understanding NF1 \| About This Site
		Often it comes as unexpected news about a child who appears to be perfectly healthy, save for the presence of some innocent-looking brown skin spots previously passed off as simple birthmarks.
		Suddenly, your child is labeled as having "neurofibromatosis," an unpronounceable word that many doctors have to look up in their textbooks to explain.
		The keystone of the site is a consultation video in which parents get information about their child, who was recently diagnosed with NF1.
	www.understandingnf1.org /thissite.html (471 words)

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