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Topic: Neurofibromatosis Type 1

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	GENETIC DISORDERS - Neurofibromatosis Type 1
		Neurofibromatosis type 1 is a genetic condition characterised by skin pigment changes and tumours that grow along nerves in the skin, brain, and other parts of the body.
		Mutations in the NF1 gene cause neurofibromatosis type 1.
		Neurofibromatosis type 1 is considered to have an autosomal dominant pattern of inheritance.
	www.medic8.com /genetics/neurofibromatosis-type1.htm (813 words)

	Med-Lib - Medical Online Library - English Articles - Oxford Textbook of Surgery - Neurofibromatosis
		Neurofibromatosis type 2 is less common (less than 1 in 100000 births) than neurofibromatosis type 2, but the growth of multiple intracranial and spinal tumours can cause progressive neurological dysfunction.
		The hallmark of type 2 disease is bilateral acoustic neuromas, Schwann cell tumours of the eighth cranial nerve.
		Lisch nodules are absent in patients with neurofibromatosis type 2, but presenile lens opacities occur in half of these patients and may serve as a marker for the presence of the gene in some families.
	med-lib.ru /english/oxford/neurofibromatosis.shtml (958 words)

	Neurofibromatosis
		Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder that is caused by a mutation in the NF1 gene.
		Neurofibromatosis type 1 (NF1) is a common, autosomal dominant genetic disorder with a variety of highly variable symptoms including cutaneous manifestations (such as cafe au lait spots), Lisch nodules, plexiform neurofibromas, skeletal abnormalities, an increased risk for malignancy, and the development of learning disabilities.
		Neurofibromatosis type 2 diagnosed in the absence of vestibular schwannomas.
	www.thedoctorsdoctor.com /diseases/neurofibromatosis.htm (10434 words)

	Genomics\|HuGENet\|Reviews\|NF1 Gene and Neurofibromatosis Type 1\|PubMed ID: 20088509
		Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes.
		Watson syndrome: is it a subtype of type 1 neurofibromatosis?
		Prenatal diagnosis of neurofibromatosis type 1: from flanking RFLPs to intragenic microsatellite markers.
	www.cdc.gov /genomics/hugenet/reviews/NF1gene.htm (5101 words)

	genome.gov \| General Information About Neurofibromatosis
		Neurofibromatosis (NF, or "the neurofibromatoses") is a group of diseases with some common symptoms.
		Neurofibromatosis type 1 is a genetic disease that causes changes in the growth of nerves, skin and bones.
		Neurofibromatosis type 1 is caused by an alteration (or mutation) in the DNA of the gene NF1, which makes the protein neurofibromin.
	www.genome.gov /16015147 (1464 words)

	Medical Dictionary: Neurofibromatosis type 1 - WrongDiagnosis.com
		Neurofibromatosis type 1: Type 1 (peripheral) neurofibromatosis (von Recklinghausen's disease), is the most common type of neurofibromatosis.
		Type 1 neurofibromatosis has dominant inheritance, with a gene locus on the proximal long arm of chromosome 17.
		Neurofibromatosis type 1 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
	www.wrongdiagnosis.com /medical/neurofibromatosis_type_1.htm (523 words)

	Neurofibromatosis Clinics Association - What is Neurofibromatosis (NF)? (Site not responding. Last check: 2007-09-08)
		Neurofibromatosis (NF) is one of the most common genetic conditions and can affect anyone, regardless of family history, race, gender, or ethnic background.
		In individuals with mosaic or localized manifestations of neurofibromatosis type 1 (segmental neurofibromatosis type 1), disease features are limited to the affected area, which varies from a narrow strip to one quadrant and occasionally to one half of the body.
		Patients with localized neurofibromatosis type 2 have disease-related tumors localized to one part of the nervous system; for example a unilateral vestibular schwannoma with ipsilateral meningiomas or multiple schwannomas in one part of the peripheral nervous system.
	www.nfpittsburgh.org /whats_nf.html (1078 words)

	Neurofibromatosis Type 1 (NF-1)
		Neurofibromatosis Type 1 is estimated to occur in 1 in 4,000 births.
		Neurofibromatosis Type 2 (NF-2) is a rare disorder that is genetically distinct from Neurofibromatosis Type 1 (NF-1).
		Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis).
	hw.healthdialog.com /kbase/nord/nord3.htm (3012 words)

	Neurofibromatosis
		Cause of neurofibromatosis, 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.
		Cardiovascular complications are associated with neurofibromatosis type 1, including congenital heart defects, high blood pressure (hypertension), and constricted, blocked, or damaged blood vessels (vasculopathy) being effects of neurofibromatosis.
		Neurofibromatosis disease treatments for other conditions associated with neurofibromatosis type 1 are aimed at controlling or relieving symptoms.
	www.healiohealth.com /Library/Neurofibromatosis.htm (1397 words)

	Neurofibromatosis type 1 - Genetics Home Reference
		Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body.
		Beginning in early childhood, almost all people with neurofibromatosis type 1 have multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area.
		Additional signs and symptoms of neurofibromatosis type 1 include high blood pressure (hypertension), short stature, an unusually large head (macrocephaly), and skeletal abnormalities such as an abnormal curvature of the spine (scoliosis).
	ghr.nlm.nih.gov /condition=neurofibromatosistype1 (925 words)

	Neurofibromatosis: clinical presentations and anaesthetic implications -- Hirsch et al. 86 (4): 555 -- British Journal ...
		and its prevalence in the population is 1 in 5000;
		Gastrointestinal manifestations of type 1 neurofibromatosis (von Recklinghausen’s disease).
		Genomic organisation of the neurofibromatosis 1 gene (NF1).
	bja.oxfordjournals.org /cgi/content/full/86/4/555 (4345 words)

	Malignancy in Neurofibromatosis Type 1 -- Korf 5 (6): 477 -- The Oncologist
		Malignancy in Neurofibromatosis Type 1 -- Korf 5 (6): 477 -- The Oncologist
		Prognostic significance of type 1 neurofibromatosis (von Recklinghausen Disease) in childhood optic glioma.
		Benign and malignant pathology in neurofibromatosis type 1.
	theoncologist.alphamedpress.org /cgi/content/full/5/6/477 (4481 words)

	BioMed Central \| Full text \| Zollinger-Ellison syndrome associated with neurofibromatosis type 1: a case report
		Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder with characteristic features of skin and central nervous system involvement.
		A 41-year-old female affected by neurofibromatosis type 1 presented with a history of recurrent epigastric soreness, diarrhea, and relapsing chronic duodenal ulcer.
		Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder with an estimated prevalence of 2 to 3 cases per 10,000 population [1].
	www.biomedcentral.com /1471-2407/5/85 (2441 words)

	Ophthalmological manifestations in segmental neurofibromatosis type 1 -- Ruggieri et al. 88 (11): 1429 -- British ...
		Figure 1 (A) An 18 year old girl with localised manifestations of NF1 shows a quadrant of her body including the lower back, the buttocks and the upper region of the thighs with a darker (hyperpigmented) background and within multiple café au lait spots, freckling, cutaneous neurofibromas, and a large underlying plexiform neurofibroma.
		Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene.
		Genetic and clinical mosaicism in a patient with neurofibromatosis type 1.
	bjo.bmjjournals.com /cgi/content/full/88/11/1429 (3280 words)

	Cardiff University - Neurofibromatosis Type 1
		Neurofibromatosis type 1 (NF1) is one of the most common human inherited disorders with an incidence of approximately 1 in 4,000.
		To study the molecular mechanisms underlying the rare segmental form of neurofibromatosis type 1 in order to test the hypothesis that this disease entity is caused by gonosomal mosaicism.
		Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1 (SNF1). J.
	www.cardiff.ac.uk /medicine/medical_genetics/genetics_research/nf1 (907 words)

	Mediastinal atypical carcinoid and neurofibromatosis type 1 Archives of Pathology & Laboratory Medicine - Find ... (Site not responding. Last check: 2007-09-08)
		We report a case of mediastinal atypical carcinoid in a 63-year-old woman with neurofibromatosis type 1 (NIF-1), who presented with shortness of breath and a bulky mediastinal mass.
		Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder clinically characterized by the presence of cutaneous and subcutaneous neurofibromas, caf6-au-lait spots, and Lisch nodules.
		There appears to be a particular proclivity for the duodenum clustered at or near the ampulla of Vater.2 In a review of carcinoids and neurofibromatosis, this location accounted for 27 (93%) of 29 reported cases.2 This was contrasted with the low (2%) incidence of duodenal carcinoids sporadically.
	www.findarticles.com /p/articles/mi_qa3725/is_200002/ai_n8880397 (742 words)

	Neurofibromatosis in Children - Keep Kids Healthy
		Neurofibromatosis type 1 (also called von Recklinghaus disease) is a condition that affects the skin, eyes, kidneys, and many other parts of the body.
		Neurofibromatosis I is a hereditary condition usually passed from parent to child (autosomal dominant), but in about half the people with Neurofibromatosis 1, there is no history of the disease in the family.
		Neurofibromatosis Type 2 is a rare, hereditary disorder that is similar to Neurofibromatosis I in that it involves tumors along the nerves.
	www.keepkidshealthy.com /welcome/conditions/neurofibromatosis.html (1381 words)

	Neurofibromatosis 1
		Neurofibromatosis 1 (NF1) is characterized by multiple café au lait spots, axillary and inguinal freckling, multiple discrete dermal neurofibromas, and iris Lisch nodules.
		Neurofibromatosis type 2 (bilateral vestibular schwannomas, schwannomas of other cranial and peripheral nerves, cutaneous schwannomas, meningiomas, juvenile posterial subcapsular cataract).
		Neurofibromatosis 1 (NF1) is inherited in an autosomal dominant manner.
	www.geneclinics.org /profiles/nf1/details.html (5565 words)

	About Neurofibromatosis, Type 1 (NF1): The Neurofibromatosis Center of New Jersey The University Hospital, Newark, NJ (Site not responding. Last check: 2007-09-08)
		Neurofibromatosis, type 1 (NF1) is characterized by tumors that grow on or below the skin and in the peripheral nerves.
		Physicians use seven criteria to evaluate a patient for NF1; a confirmed diagnosis requires at least two of the seven criteria be met.
		About 5 percent to 10 percent of the time, plexiform neurofibromas degenerate into a malignant type of tumor known as a neurofibrosarcoma.
	www.theuniversityhospital.com /nf/aboutnf1.htm (741 words)

	Neurofibromatosis Bright Objects in Children With Neurofibromatosis Type 1: A Proliferative Potential? -- Griffiths et ...
		Neurofibromatosis type 1 (NF1) has a prevalence of ~1 in 3000 to 4000 and frequently has cutaneous and optic manifestations.
		Box and whisker plot (mean, interquartile range and full range) of the number of neurofibromatosis type 1 bright objects on the index magnetic resonance examination plotted against age at the time of the index magnetic resonance.
		Box and whisker plot (mean, interquartile range and full range) of the change in the number of neurofibromatosis type 1 bright objects between consecutive magnetic resonance examinations against the mean age in between the examinations.
	pediatrics.aappublications.org /cgi/content/full/104/4/e49 (3915 words)

	Pathophysiology of Neurofibromatosis Type 1 -- Theos and Korf 144 (11): 842 -- Annals of Internal Medicine
		Brainstem tumors in patients with neurofibromatosis type 1: a distinct clinical entity.
		Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene.
		Evidence for the presence of the second allele of the neurofibromatosis type 1 gene in melanocytes derived from café au lait macules of NF1 patients.
	www.annals.org /cgi/content/full/144/11/842 (3419 words)

	Neurofibromatosis-1 - WrongDiagnosis.com
		Type 1 (peripheral) neurofibromatosis (von Recklinghausen's disease), is the most common type of neurofibromatosis.
		Pirfenidone in Children and Young Adults with Neurofibromatosis type I and Progressive Plexiform Neurofibromas - This study is currently recruiting patients (Current: 08 Jun 2006) - Pirfenidone
		Fludeoxyglucose F 18 Positron Emission Tomography and Magnetic Resonance Perfusion Imaging in Patients With Neurofibromatosis 1 and Plexiform Neurofibroma - This study is currently recruiting patients (Current: 08 Jun 2006) - fludeoxyglucose F 18,gadopentetate dimeglumine
	www.wrongdiagnosis.com /n/neurofibromatosis_1/intro.htm (803 words)

	eMedicine - Neurofibromatosis, Type 1 : Article by Beth A Pletcher, MD
		Background: Neurofibromatosis (NF) is a multisystem genetic disorder that commonly is associated with cutaneous, neurological, and orthopedic manifestations.
		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).
		Chiari type 1 malformations are seen with increased frequency in the NF1 population.
	www.emedicine.com /neuro/topic248.htm (5122 words)

	YvonneFoong.com » What is NF?
		Neurofibromatosis Type One: A Guide for Educators This 12 page booklet is written in question and answer format and provides concise and practical information and recommendations about the cognitive, behavioral and physical manifestations of the disorder.
		Living with NF Type 1: A Guide for Adults This pamphlet was written to provide information specifically for adults with Neurofibromatosis Type 1.
		The Child with Neurofibromatosis Type 1 This brochure is dedicated to the families who live with neurofibromatosis, and their friends who help provide support and encouragement.
	www.yvonnefoong.com /neurofibromatosis (953 words)

	Neurofibromatosis - Wikipedia, the free encyclopedia
		Joseph Merrick, the Elephant Man, was once considered to have been afflicted with either elephantiasis or neurofibromatosis type I. However, it is now generally believed that Merrick suffered from the very rare Proteus syndrome or perhaps a combination of the two conditions.
		Neurofibromatosis type I (was known as Von Recklinghausen disease after Friedrich Daniel von Recklinghausen).
		Neurofibromatosis type 2 is due to mutation on chromosome 22q, the gene product is Merlin, a cytoskeletal protein.
	en.wikipedia.org /wiki/Neurofibromatosis (936 words)

	Clinical Study: 05-HG-0152, Variation in Gene Expression in Neurofibromatosis Type 1 (Site not responding. Last check: 2007-09-08)
		This study may identify genes that predict the seriousness of neurofibromatosis type 1 (NF1).
		An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.
		Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disorders.Am J Med Genet.
	clinicalstudies.info.nih.gov /cgi/detail.cgi?A_05-HG-0152.html (531 words)

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