Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Neurofibromatosis

Neurofibromatosis is a hereditary disorder characterized by neurofibromas (benign tumors of the nervous system). Symptoms include skin neurofibromas, café au lait spots, scoliosis, and hearing loss.

Symptoms

Café au lait spots
Neurofibromatosis is probaly the most common disease involving cafe-au-lait spots.

Systematic

Hereditary tumors
Capillary infantile hemangioma
Hereditary malign blood disorders
Hereditary renal tumors
Neurofibromatosis
Familial spinal neurofibromatosis
NF1
Legius syndrome
SPRED1
Neurofibromatosis 1
NF1
Neurofibromatosis-Noonan syndrome
NF1
Noonan syndrome 6
TRHR
Watson syndrome
NF1

References:

1.

Wang Q et. al. (2003) Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

[^]
2.

Bahuau M et. al. (2001) GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype.

[^]
3.

Ingram DA et. al. (2000) Genetic and biochemical evidence that haploinsufficiency of the Nf1 tumor suppressor gene modulates melanocyte and mast cell fates in vivo.

[^]
4.

Allanson JE et. al. (1985) Noonan phenotype associated with neurofibromatosis.

[^]
5.

Heim RA et. al. (1994) Screening for truncated NF1 proteins.

[^]
6.

Colley A et. al. (1996) Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis.

[^]
7.

Upadhyaya M et. al. (1997) Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.

[^]
8.

Silva AJ et. al. (1997) A mouse model for the learning and memory deficits associated with neurofibromatosis type I.

[^]
9.

Side L et. al. (1997) Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders.

[^]
10.

Gutmann DH et. al. (1997) The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

[^]
11.

Skuse GR et. al. (1997) RNA processing and clinical variability in neurofibromatosis type I (NF1).

[^]
12.

Klose A et. al. (1998) Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.

[^]
13.

Kluwe L et. al. (1999) Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas.

[^]
14.

Eisenbarth I et. al. (2000) Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1.

[^]
15.

Gutzmer R et. al. (2000) Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent in desmoplastic neurotropic melanoma.

[^]
16.

Gervasini C et. al. (2002) Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region.

[^]
17.

Upadhyaya M et. al. (2003) Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.

[^]
18.

Baralle D et. al. (2003) Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).

[^]
19.

Kluwe L et. al. (2003) NF1 mutations and clinical spectrum in patients with spinal neurofibromas.

[^]
20.

Wiest V et. al. (2003) Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers.

[^]
21.

Ferner RE et. al. (2004) Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).

[^]
22.

Ragge NK et. al. (2005) Heterozygous mutations of OTX2 cause severe ocular malformations.

[^]
23.

Bertola DR et. al. (2005) Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

[^]
24.

De Luca A et. al. (2005) NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

[^]
25.

Stevenson DA et. al. (2006) Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

[^]
26.

Kolanczyk M et. al. (2007) Multiple roles for neurofibromin in skeletal development and growth.

[^]
27.

Henderson RA et. al. (2007) Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.

[^]
28.

Thiel C et. al. (2009) Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.

[^]
29.

Nyström AM et. al. (2009) Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.

[^]
30.

Reilly KM et. al. (2000) Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects.

[^]
31.

Quattrin T et. al. (1987) Vertical transmission of the neurofibromatosis/Noonan syndrome.

[^]
32.

None (1987) Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis.

[^]
33.

Abuelo DN et. al. (1988) Neurofibromatosis with fully expressed Noonan syndrome.

[^]
34.

Opitz JM et. al. (1985) The neurofibromatosis-Noonan syndrome.

[^]
35.

Jamieson CR et. al. (1994) Mapping a gene for Noonan syndrome to the long arm of chromosome 12.

[^]
36.

Bahuau M et. al. (1996) Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association.

[^]
37.

Bahuau M et. al. (1998) Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.

[^]
38.

Klopfenstein KJ et. al. () Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases.

[^]
39.

Pearson-Webb MA et. al. (1986) Eye findings in bilateral acoustic (central) neurofibromatosis: association with presenile lens opacities and cataracts but absence of Lisch nodules.

[^]
40.

Krone W et. al. (1986) Cell culture studies on neurofibromatosis (von Recklinghausen). V. Monosomy 22 and other chromosomal anomalies in cultures from peripheral neurofibromas.

[^]
41.

Duncan AM et. al. (1987) Neurofibromatosis in a man with a ring 22: in situ hybridization studies.

[^]
42.

Seizinger BR et. al. (1987) Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis.

[^]
43.

Martuza RL et. al. (1988) Neurofibromatosis 2 (bilateral acoustic neurofibromatosis).

[^]
44.

Wertelecki W et. al. (1988) Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred.

[^]
45.

Mrázek J et. al. (1988) Diagnosis, size, and operation results in 41 acoustic neurinomas.

[^]
46.

Lee DK et. al. (1969) Familial central nervous system neoplasia. Case report of a family with von Recklinghausen's neurofibromatosis.

[^]
47.

Young DF et. al. (1970) Bilateral acoustic neuroma in a large kindred.

[^]
48.

None (1969) Acoustic neurinomas. Pathology and differential diagnosis.

[^]
49.

None (1968) Case reports and technical note. Familial bilateral acoustic neuroma affecting 14 members from four generations. Case report.

[^]
50.

Kanter WR et. al. (1980) Central neurofibromatosis with bilateral acoustic neuroma: genetic, clinical and biochemical distinctions from peripheral neurofibromatosis.

[^]
51.

None (1981) Central neurofibromatosis with bilateral acoustic neuroma.

[^]
52.

Martuza RL et. al. (1982) Bilateral acoustic neuromas: clinical aspects, pathogenesis, and treatment.

[^]
53.

None (1995) Asbestos and mesothelioma: genetic lessons from a tragedy.

[^]
54.

Ragge NK et. al. (1995) Ocular abnormalities in neurofibromatosis 2.

[^]
55.

Parry DM et. al. (1994) Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity.

[^]
56.

Watson CJ et. al. (1993) A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus.

[^]
57.

None (1994) National Institutes of Health Consensus Development Conference Statement on Acoustic Neuroma, December 11-13, 1991. The Consensus Development Panel.

[^]
58.

Bouzas EA et. al. (1993) Lens opacities in neurofibromatosis 2: further significant correlations.

[^]
59.

Rouleau GA et. al. (1993) Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2.

[^]
60.

Ruttledge MH et. al. (1993) Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers.

[^]
61.

Bouzas EA et. al. (1993) Visual impairment in patients with neurofibromatosis 2.

[^]
62.

Parry DM et. al. (1996) Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.

[^]
63.

Ruttledge MH et. al. (1996) Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease.

[^]
64.

Kehrer-Sawatzki H et. al. (1997) Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2.

[^]
65.

Evans DG et. al. (1998) Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.

[^]
66.

Kondziolka D et. al. (1998) Long-term outcomes after radiosurgery for acoustic neuromas.

[^]
67.

Pitts LH et. al. (1998) Treatment of acoustic neuromas.

[^]
68.

Wu CL et. al. (1998) Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas.

[^]
69.

Evans DG et. al. (1999) Paediatric presentation of type 2 neurofibromatosis.

[^]
70.

Kluwe L et. al. (2000) Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors.

[^]
71.

Egan RA et. al. (2001) Monocular elevator paresis in neurofibromatosis type 2.

[^]
72.

Gijtenbeek JM et. al. (2001) Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2.

[^]
73.

Baser ME et. al. (2001) Maternal gene effect in neurofibromatosis 2: fact or artefact?

[^]
74.

Mohyuddin A et. al. (2002) Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.

[^]
75.

Baser ME et. al. (2002) Neurofibromatosis 2 and malignant mesothelioma.

[^]
76.

Baser ME et. al. (2002) Predictors of the risk of mortality in neurofibromatosis 2.

[^]
77.

Baser ME et. al. (2002) Evaluation of clinical diagnostic criteria for neurofibromatosis 2.

[^]
78.

Bovie C et. al. (2003) Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2).

[^]
79.

None (1964) ASSOCIATION OF BILATERAL 8TH NERVE TUMORS WITH MENINGIOMAS IN VON RECKLINGHAUSEN'S DISEASE.

[^]
80.

Baser ME et. al. (2003) Genotype-phenotype correlations for cataracts in neurofibromatosis 2.

[^]
81.

Baser ME et. al. (2004) Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study.

[^]
82.

Tsilchorozidou T et. al. (2004) Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2.

[^]
83.

Baser ME et. al. (2005) The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.

[^]
84.

Evans DG et. al. (2007) Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification.

[^]
85.

McLaughlin ME et. al. (2007) Ocular pathologic findings of neurofibromatosis type 2.

[^]
86.

Asthagiri AR et. al. (2009) Neurofibromatosis type 2.

[^]
87.

Evans DG et. al. (2009) An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2).

[^]
88.

Feiling A et. al. (1920) A FAMILIAL FORM OF ACOUSTIC TUMOUR.

[^]
89.

Baser ME et. al. (2011) Empirical development of improved diagnostic criteria for neurofibromatosis 2.

[^]
90.

Stambolian D et. al. (1988) Gene location in neurofibromatosis.

[^]
91.

Craddock GR et. al. (1988) Neurofibromatosis and renal artery stenosis: a case of familial incidence.

[^]
92.

Fitzpatrick AP et. al. (1988) Familial neurofibromatosis and hypertrophic cardiomyopathy.

[^]
93.

Samuelsson B et. al. (1988) Relative fertility and mutation rate in neurofibromatosis.

[^]
94.

Dunn BG et. al. (1985) A genetic linkage study in 15 families of individuals with von Recklinghausen neurofibromatosis.

[^]
95.

None (1965) Deficiency of erythrocyte galactokinase in a patient with galactose diabetes.

[^]
96.

Schenkein I et. al. (1974) Increased nerve-growth-stimulating activity in disseminated neurofibromatosis.

[^]
97.

Salyer WR et. al. (1974) The vascular lesions of neurofibromatosis.

[^]
98.

Brunner H et. al. (1974) Chronic mesenteric arterial insufficiency caused by vascular neurofibromatosis. A case report.

[^]
99.

Rosenquist GC et. al. (1970) Acquired right ventricular outflow obstruction in a child with neurofibromatosis.

[^]
100.

Hochberg FH et. al. (1974) Gastrointestinal involvement in von Recklinghausen's neurofibromatosis.

[^]
101.

Knight WA et. al. (1973) Neurofibromatosis associated with malignant neurofibromas.

[^]
102.

Massaro D et. al. (1966) Fibrosing alveolitis: its occurrence, roentgenographic, and pathologic features in von Recklinghausen's neurofibromatosis.

[^]
103.

Grant WM et. al. (1968) Distinctive gonioscopic findings in glaucoma due to neurofibromatosis.

[^]
104.

Diekmann L et. al. (1967) [Unusual manifestations of neurofibromatosis (von Recklinghausen's disease) in childhood. Abdominal tumor with clitoris hypertrophy. Renal hypertension caused by renal artery stenosis. Monozygotic twins--plexiform neuroma in the head region and glaucoma].

[^]
105.

Benedict PH et. al. (1968) Melanotic macules in Albright's syndrome and in neurofibromatosis.

[^]
106.

Miles J et. al. (1969) Intrathoracic meningocele. Its development and association with neurofibromatosis.

[^]
107.

Fienman NL et. al. (1970) Neurofibromatosis in childhood.

[^]
108.

Buntin PT et. al. (1970) Gastrointestinal neurofibromatosis. A rare cause of chronic anemia.

[^]
109.

Wallis K et. al. (1970) Hypertension in a case of von Recklinghausen's neurofibromatosis.

[^]
110.

Boudin G et. al. (1970) [Multiple tumours of the nervous system in Recklinghausen's disease. An anatomo-clinical case with chromophobe adenoma of the pituitary gland].

[^]
111.

Charron JW et. al. (1970) Neurofibromatosis of bladder: case report and review of literature.

[^]
112.

Johnson BL et. al. (1970) Café au lait spot in neurofibromatosis and in normal individuals.

[^]
113.

Allan TN et. al. (1970) Neurofibromatosis of the renal artery.

[^]
114.

Fialkow PJ et. al. (1971) Multiple cell origin of hereditary neurofibromas.

[^]
115.

Newman A et. al. (1971) Bilateral neurofibroma of the intrathoracic vagus associated with von Recklinghausen's disease.

[^]
116.

Izumi AK et. al. (1971) Von Recklinghausen's disease associated with multiple neurolemomas.

[^]
117.

Smith CJ et. al. (1970) Renal artery dysplasia as a cause of hypertension in neurofibromatosis.

[^]
118.

Bidot-Lopez P et. al. () Enhanced viral transformation of skin fibroblasts from neurofibromatosis patients.

[^]
119.

Horwich A et. al. (1983) Brief clinical report: aqueductal stenosis leading to hydrocephalus--an unusual manifestation of neurofibromatosis.

[^]
120.

Voutsinas S et. al. (1983) The infrequency of malignant disease in diaphyseal aclasis and neurofibromatosis.

[^]
121.

None () Von Recklinghausen's vasculopathy.

[^]
122.

Riccardi VM et. al. (1984) The pathophysiology of neurofibromatosis: IX. Paternal age as a factor in the origin of new mutations.

[^]
123.

Satran L et. al. (1980) Neurofibromatosis with congenital glaucoma and buphthalmos in a newborn.

[^]
124.

Pellock JM et. al. (1980) Childhood hypertensive stroke with neurofibromatosis.

[^]
125.

Erickson RP et. al. (1980) Familial occurrence of intracranial arterial occlusive disease (Moyamoya) in neurofibromatosis.

[^]
126.

Stanley JC et. al. (1981) Pediatric renal artery occlusive disease and renovascular hypertension. Etiology, diagnosis, and operative treatment.

[^]
127.

Fabricant RN et. al. (1981) Increased serum levels of nerve growth factor in von Recklinghausen's disease.

[^]
128.

None (1981) Von Recklinghausen neurofibromatosis.

[^]
129.

Kaplan J et. al. (1982) Familial T-cell lymphoblastic lymphoma: association with Von Recklinghausen neurofibromatosis and Gardner syndrome.

[^]
130.

Clark RD et. al. (1982) Familial neurofibromatosis and juvenile chronic myelogenous leukemia.

[^]
131.

Rockower S et. al. (1982) Dislocation of the spine in neurofibromatosis. A report of two cases.

[^]
132.

Kalff V et. al. (1982) The spectrum of pheochromocytoma in hypertensive patients with neurofibromatosis.

[^]
133.

Perry HD et. al. (1982) Iris nodules in von Recklinghausen's Neurofibromatosis. Electron microscopic confirmation of their melanocytic origin.

[^]
134.

Friedman JM et. al. (1982) Probable clonal origin of neurofibrosarcoma in a patient with hereditary neurofibromatosis.

[^]
135.

None (1982) Neurofibromatosis: clinical heterogeneity.

[^]
136.

Listernick R et. al. (1995) Optic pathway tumors in children: the effect of neurofibromatosis type 1 on clinical manifestations and natural history.

[^]
137.

Molloy PT et. al. (1995) Brainstem tumors in patients with neurofibromatosis type 1: a distinct clinical entity.

[^]
138.

Wolkenstein P et. al. (1995) More on the frequency of segmental neurofibromatosis.

[^]
139.

Legius E et. al. (1995) Neurofibromatosis type 1 in childhood: correlation of MRI findings with intelligence.

[^]
140.

Parazzini C et. al. (1995) Spontaneous involution of optic pathway lesions in neurofibromatosis type 1: serial contrast MR evaluation.

[^]
141.

Colman SD et. al. (1995) Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene.

[^]
142.

Eichhorn C et. al. (1995) Dural ectasia in von Recklinghausen's disease of the lumbar spine: a case report.

[^]
143.

Ingordo V et. al. (1995) Segmental neurofibromatosis: is it uncommon or underdiagnosed?

[^]
144.

Heim RA et. al. (1995) Distribution of 13 truncating mutations in the neurofibromatosis 1 gene.

[^]
145.

Sutphen R et. al. (1995) Clitoromegaly in neurofibromatosis.

[^]
146.

Garty BZ et. al. (1994) Neurofibromatosis type 1 in Israel: survey of young adults.

[^]
147.

None (1994) Intracranial fusiform aneurysms in von Recklinghausen's disease: case report and literature review.

[^]
148.

Lázaro C et. al. (1994) Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father.

[^]
149.

Listernick R et. al. (1994) Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study.

[^]
150.

Kayes LM et. al. (1994) Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

[^]
151.

Hofman KJ et. al. (1994) Neurofibromatosis type 1: the cognitive phenotype.

[^]
152.

Lehrnbecher T et. al. (1994) Neurofibromatosis presenting as a severe systemic vasculopathy.

[^]
153.

Kurotaki H et. al. (1993) Multiple papillary adenomas of type II pneumocytes found in a 13-year-old boy with von Recklinghausen's disease.

[^]
154.

Shannon KM et. al. (1994) Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders.

[^]
155.

Ragge NK et. al. (1993) Images of Lisch nodules across the spectrum.

[^]
156.

Easton DF et. al. (1993) An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

[^]
157.

Friedman JM et. al. (1993) National Neurofibromatosis Foundation International Database.

[^]
158.

Legius E et. al. (1993) Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis.

[^]
159.

Stark M et. al. (1995) Single-cell PCR performed with neurofibroma Schwann cells reveals the presence of both alleles of the neurofibromatosis type 1 (NF1) gene.

[^]
160.

Upadhyaya M et. al. (1995) Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.

[^]
161.

Leppig KA et. al. (1996) The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization.

[^]
162.

Colman SD et. al. (1996) Somatic mosaicism in a patient with neurofibromatosis type 1.

[^]
163.

Sakaguchi N et. al. (1996) A case of von Recklinghausen's disease with bilateral pheochromocytoma-malignant peripheral nerve sheath tumors of the adrenal and gastrointestinal autonomic nerve tumors.

[^]
164.

Barrall JL et. al. () Ocular ischemic syndrome in a child with moyamoya disease and neurofibromatosis.

[^]
165.

Sawada S et. al. (1996) Identification of NF1 mutations in both alleles of a dermal neurofibroma.

[^]
166.

Hünerbein M et. al. (1996) Biliary obstruction caused by a multifocal duodenal neurosarcoma in a patient with von Recklinghausen's disease.

[^]
167.

Nopajaroonsri C et. al. (1996) Venous aneurysm, arterial dysplasia, and near-fatal hemorrhages in neurofibromatosis type 1.

[^]
168.

Shen MH et. al. (1996) Molecular genetics of neurofibromatosis type 1 (NF1).

[^]
169.

Abeliovich D et. al. (1995) Familial café au lait spots: a variant of neurofibromatosis type 1.

[^]
170.

Dugoff L et. al. (1996) Neurofibromatosis type 1 and pregnancy.

[^]
171.

None (1997) Precocious puberty in two children with neurofibromatosis type I in the absence of optic chiasmal glioma.

[^]
172.

Friedman JM et. al. (1997) Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients.

[^]
173.

Serra E et. al. (1997) Confirmation of a double-hit model for the NF1 gene in benign neurofibromas.

[^]
174.

Cnossen MH et. al. (1998) Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children < or = 6 years and clinically suspected of having NF1. Neurofibromatosis team of Sophia Children's Hospital.

[^]
175.

Park VM et. al. (1998) Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.

[^]
176.

Cook DL et. al. (1998) Modeling stochastic gene expression: implications for haploinsufficiency.

[^]
177.

McGaughran JM et. al. (1999) A clinical study of type 1 neurofibromatosis in north west England.

[^]
178.

Stevenson DA et. al. (1999) Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1.

[^]
179.

Chu MH et. al. (1999) Gastro-intestinal bleeding caused by leiomyoma of the small intestine in a child with neurofibromatosis.

[^]
180.

Gutmann DH et. al. (1999) Haploinsufficiency for the neurofibromatosis 1 (NF1) tumor suppressor results in increased astrocyte proliferation.

[^]
181.

Mukonoweshuro W et. al. (1999) Neurofibromatosis type 1: the role of neuroradiology.

[^]
182.

Clementi M et. al. (1999) Neurofibromatosis type 1 growth charts.

[^]
183.

Cichowski K et. al. (1999) Mouse models of tumor development in neurofibromatosis type 1.

[^]
184.

Vogel KS et. al. (1999) Mouse tumor model for neurofibromatosis type 1.

[^]
185.

John AM et. al. (2000) A search for evidence of somatic mutations in the NF1 gene.

[^]
186.

Koivunen J et. al. (2000) New function for NF1 tumor suppressor.

[^]
187.

DeBella K et. al. (2000) Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children.

[^]
188.

Yamauchi T et. al. (2000) Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25.

[^]
189.

Rutkowski JL et. al. (2000) Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1.

[^]
190.

Waggoner DJ et. al. (2000) Clinic-based study of plexiform neurofibromas in neurofibromatosis 1.

[^]
191.

None (2000) Parents' responses to their child's diagnosis of neurofibromatosis 1.

[^]
192.

Tinschert S et. al. (2000) Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene.

[^]
193.

King AA et. al. (2000) Malignant peripheral nerve sheath tumors in neurofibromatosis 1.

[^]
194.

Poyhonen M et. al. (2000) Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland.

[^]
195.

Yasunari T et. al. (2000) Frequency of choroidal abnormalities in neurofibromatosis type 1.

[^]
196.

Lin AE et. al. (2000) Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1.

[^]
197.

Szudek J et. al. (2000) Growth in North American white children with neurofibromatosis 1 (NF1).

[^]
198.

Serra E et. al. (2000) Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations.

[^]
199.

Hamilton SJ et. al. (2000) Insights into the pathogenesis of neurofibromatosis 1 vasculopathy.

[^]
200.

None (2000) The vasculopathy of NF1 and histogenesis control genes.

[^]
201.

Otsuka F et. al. (2001) Lisch nodules and skin manifestation in neurofibromatosis type 1.

[^]
202.

Costa RM et. al. (2001) Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1.

[^]
203.

Rasmussen SA et. al. (2001) Mortality in neurofibromatosis 1: an analysis using U.S. death certificates.

[^]
204.

Balcer LJ et. al. (2001) Visual loss in children with neurofibromatosis type 1 and optic pathway gliomas: relation to tumor location by magnetic resonance imaging.

[^]
205.

Parsa CF et. al. (2001) Spontaneous regression of optic gliomas: thirteen cases documented by serial neuroimaging.

[^]
206.

Hamilton SJ et. al. (2001) Cardiac findings in an individual with neurofibromatosis 1 and sudden death.

[^]
207.

Serra E et. al. (2001) Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations.

[^]
208.

Leroy K et. al. (2001) Malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1: a clinicopathologic and molecular study of 17 patients.

[^]
209.

Gutmann DH et. al. (2001) Heterozygosity for the neurofibromatosis 1 (NF1) tumor suppressor results in abnormalities in cell attachment, spreading and motility in astrocytes.

[^]
210.

Costa RM et. al. (2002) Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1.

[^]
211.

Sperfeld AD et. al. (2002) Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2.

[^]
212.

Zhu Y et. al. (2002) Neurofibromas in NF1: Schwann cell origin and role of tumor environment.

[^]
213.

Evans DG et. al. (2002) Malignant peripheral nerve sheath tumours in neurofibromatosis 1.

[^]
214.

Singhal S et. al. (2002) Neurofibromatosis type 1 and sporadic optic gliomas.

[^]
215.

Friedman JM et. al. () Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force.

[^]
216.

Kemkemer R et. al. (2002) Increased noise as an effect of haploinsufficiency of the tumor-suppressor gene neurofibromatosis type 1 in vitro.

[^]
217.

Rosser T et. al. (2002) Neurofibromas in children with neurofibromatosis 1.

[^]
218.

Gitler AD et. al. (2003) Nf1 has an essential role in endothelial cells.

[^]
219.

Khosrotehrani K et. al. (2003) Clinical risk factors for mortality in patients with neurofibromatosis 1: a cohort study of 378 patients.

[^]
220.

Szudek J et. al. (2003) Patterns of associations of clinical features in neurofibromatosis 1 (NF1).

[^]
221.

Ruggieri M et. al. (2003) From Aldrovandi's "Homuncio" (1592) to Buffon's girl (1749) and the "Wart Man" of Tilesius (1793): antique illustrations of mosaicism in neurofibromatosis?

[^]
222.

Schrimsher GW et. al. (2003) Visual-spatial performance deficits in children with neurofibromatosis type-1.

[^]
223.

None (1952) Rickets and osteomalacia from renal tubule defects.

[^]
224.

None (1953) Familial fibromatosis of small intestine.

[^]
225.

HAYES DM et. al. (1961) Von Recklinghausen's disease with massive intra-abdominal tumor and spontaneous hypoglycemia: metabolic studies before and after perfusion of abdominal cavity with nitrogen mustard.

[^]
226.

MANLEY KA et. al. (1961) Some heritable causes of gastrointestinal disease. Special reference to hemorrhage.

[^]
227.

None (1962) Encapsulated glioma of the Sylvian fissure associated with neurofibromatosis. Report of a case with histopathological comparison of surgical lesion and autopsy specimen following recurrence.

[^]
228.

D'AGOSTINO AN et. al. (1963) SARCOMAS OF THE PERIPHERAL NERVES AND SOMATIC SOFT TISSUES ASSOCIATED WITH MULTIPLE NEUROFIBROMATOSIS (VON RECKLINGHAUSEN'S DISEASE).

[^]
229.

None (1964) AXILLARY FRECKLING AS A DIAGNOSTIC AID IN NEUROFIBROMATOSIS.

[^]
230.

None (1961) [Hereditary neurofibromatosis with a wide phenotypic spectrum (the family Sn.)].

[^]
231.

Vandenbroucke I et. al. (2004) Genetic and clinical mosaicism in a patient with neurofibromatosis type 1.

[^]
232.

None (2003) It takes two to tango: mast cell and Schwann cell interactions in neurofibromas.

[^]
233.

Yang FC et. al. (2003) Neurofibromin-deficient Schwann cells secrete a potent migratory stimulus for Nf1+/- mast cells.

[^]
234.

Liu GT et. al. (2004) Optic radiation involvement in optic pathway gliomas in neurofibromatosis.

[^]
235.

Thiagalingam S et. al. (2004) Neurofibromatosis type 1 and optic pathway gliomas: follow-up of 54 patients.

[^]
236.

Lee V et. al. (2004) Orbitotemporal neurofibromatosis. Clinical features and surgical management.

[^]
237.

Coffin CM et. al. (2004) Non-neurogenic sarcomas in four children and young adults with neurofibromatosis type 1.

[^]
238.

None (1950) Sarcomatous transformation in multiple neuro-fibromatosis (von Recklinghausen's disease) report of four cases.

[^]
239.

Khosrotehrani K et. al. (2005) Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: a cohort study of 703 patients.

[^]
240.

Schievink WI et. al. (2005) Frequency of incidental intracranial aneurysms in neurofibromatosis type 1.

[^]
241.

Oguzkan S et. al. (2006) Two neurofibromatosis type 1 cases associated with rhabdomyosarcoma of bladder, one with a large deletion in the NF1 gene.

[^]
242.

Lammert M et. al. (2006) Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1.

[^]
243.

Stevenson DA et. al. (2006) Double inactivation of NF1 in tibial pseudarthrosis.

[^]
244.

Bausch B et. al. (2006) Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma.

[^]
245.

Ferner RE et. al. (2007) Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.

[^]
246.

McCaughan JA et. al. (2007) Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1.

[^]
247.

Tong JJ et. al. (2007) Life extension through neurofibromin mitochondrial regulation and antioxidant therapy for neurofibromatosis-1 in Drosophila melanogaster.

[^]
248.

Bausch B et. al. (2007) Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

[^]
249.

Maertens O et. al. (2007) Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

[^]
250.

Yan J et. al. (2008) Rac1 mediates the osteoclast gains-in-function induced by haploinsufficiency of Nf1.

[^]
251.

Williams VC et. al. (2009) Neurofibromatosis type 1 revisited.

[^]
252.

Snajderova M et. al. (2012) The importance of advanced parental age in the origin of neurofibromatosis type 1.

[^]
253.

Nguyen R et. al. (2013) Growth behavior of plexiform neurofibromas after surgery.

[^]
254.

Stewart DR et. al. (2014) Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

[^]
255.

Parrozzani R et. al. (2015) In Vivo Detection of Choroidal Abnormalities Related to NF1: Feasibility and Comparison With Standard NIH Diagnostic Criteria in Pediatric Patients.

[^]
Update: Sept. 26, 2018