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- Abeliovich D., Gelman-Kohan Z., Silverstein S., Lerer I., Chemke J., Merin S., Zlotogora J. Familial café au lait spots: a variant of neurofibromatosis type 1. J Med Genet. 1995 Dec;32(12):985–986. doi: 10.1136/jmg.32.12.985. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Ablin D. S., Sane S. M. Non-accidental injury: confusion with temporary brittle bone disease and mild osteogenesis imperfecta. Pediatr Radiol. 1997 Feb;27(2):111–113. doi: 10.1007/s002470050079. [DOI] [PubMed] [Google Scholar]
- Adebajo A. O., Crisp A. J., Nicholls A., Hazleman B. L. Localized scleroderma and hemiatrophy in association with antibodies to double-stranded DNA. Postgrad Med J. 1992 Mar;68(797):216–218. doi: 10.1136/pgmj.68.797.216. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Alexander E. L., Provost T. T., Stevens M. B., Alexander G. E. Neurologic complications of primary Sjögren's syndrome. Medicine (Baltimore) 1982 Jul;61(4):247–257. doi: 10.1097/00005792-198207000-00004. [DOI] [PubMed] [Google Scholar]
- Alexander E. Central nervous system disease in Sjögren's syndrome. New insights into immunopathogenesis. Rheum Dis Clin North Am. 1992 Aug;18(3):637–672. [PubMed] [Google Scholar]
- Amato A. A., Barohn R. J. Idiopathic inflammatory myopathies. Neurol Clin. 1997 Aug;15(3):615–648. doi: 10.1016/s0733-8619(05)70337-6. [DOI] [PubMed] [Google Scholar]
- Azizi E., Friedman J., Pavlotsky F., Iscovich J., Bornstein A., Shafir R., Trau H., Brenner H., Nass D. Familial cutaneous malignant melanoma and tumors of the nervous system. A hereditary cancer syndrome. Cancer. 1995 Nov 1;76(9):1571–1578. doi: 10.1002/1097-0142(19951101)76:9<1571::aid-cncr2820760912>3.0.co;2-6. [DOI] [PubMed] [Google Scholar]
- Billmire M. E., Myers P. A. Serious head injury in infants: accident or abuse? Pediatrics. 1985 Feb;75(2):340–342. [PubMed] [Google Scholar]
- Bird T. D., Lagunoff D. Neurological manifestations of Fabry disease in female carriers. Ann Neurol. 1978 Dec;4(6):537–540. doi: 10.1002/ana.410040610. [DOI] [PubMed] [Google Scholar]
- Bootsma D., Hoeijmakers J. H. The genetic basis of xeroderma pigmentosum. Ann Genet. 1991;34(3-4):143–150. [PubMed] [Google Scholar]
- Broadbent J. C., Edwards W. D., Gordon H., Hartzler G. O., Krawisz J. E. Fabry cardiomyopathy in the female confirmed by endomyocardial biopsy. Mayo Clin Proc. 1981 Oct;56(10):623–628. [PubMed] [Google Scholar]
- Cabana M. D., Crawford T. O., Winkelstein J. A., Christensen J. R., Lederman H. M. Consequences of the delayed diagnosis of ataxia-telangiectasia. Pediatrics. 1998 Jul;102(1 Pt 1):98–100. doi: 10.1542/peds.102.1.98. [DOI] [PubMed] [Google Scholar]
- Casey A. T., Crockard H. A., Geddes J. F., Stevens J. Vertical translocation: the enigma of the disappearing atlantodens interval in patients with myelopathy and rheumatoid arthritis. Part I. Clinical, radiological, and neuropathological features. J Neurosurg. 1997 Dec;87(6):856–862. doi: 10.3171/jns.1997.87.6.0856. [DOI] [PubMed] [Google Scholar]
- Charrow J., Listernick R., Ward K. Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: evidence of non-linkage. Am J Med Genet. 1993 Mar 1;45(5):606–608. doi: 10.1002/ajmg.1320450518. [DOI] [PubMed] [Google Scholar]
- Cheminal R., Echenne B., Bellet H., Duran M. Congenital non-progressive encephalopathy and deafness with intermittent episodes of coma and hyperkynureninuria. J Inherit Metab Dis. 1996;19(1):25–30. doi: 10.1007/BF01799345. [DOI] [PubMed] [Google Scholar]
- Dawkins M. A., Jorizzo J. L., Walker F. O., Albertson D., Sinal S. H., Hinds A. Dermatomyositis: a dermatology-based case series. J Am Acad Dermatol. 1998 Mar;38(3):397–404. doi: 10.1016/s0190-9622(98)70496-7. [DOI] [PubMed] [Google Scholar]
- Denckla M. B., Hofman K., Mazzocco M. M., Melhem E., Reiss A. L., Bryan R. N., Harris E. L., Lee J., Cox C. S., Schuerholz L. J. Relationship between T2-weighted hyperintensities (unidentified bright objects) and lower IQs in children with neurofibromatosis-1. Am J Med Genet. 1996 Feb 16;67(1):98–102. doi: 10.1002/(SICI)1096-8628(19960216)67:1<98::AID-AJMG17>3.0.CO;2-K. [DOI] [PubMed] [Google Scholar]
- DiMario F. J., Jr, Ramsby G. Magnetic resonance imaging lesion analysis in neurofibromatosis type 1. Arch Neurol. 1998 Apr;55(4):500–505. doi: 10.1001/archneur.55.4.500. [DOI] [PubMed] [Google Scholar]
- Ducla-Soares J., Alves M. M., Carvalho M., Póvoa P., Conceiço I., Sales Luis M. L. Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type. Acta Neurol Scand. 1994 Oct;90(4):266–269. doi: 10.1111/j.1600-0404.1994.tb02719.x. [DOI] [PubMed] [Google Scholar]
- Endo M., Yamada Y., Matsuura N., Niikawa N. Monozygotic twins discordant for the major signs of McCune-Albright syndrome. Am J Med Genet. 1991 Nov 1;41(2):216–220. doi: 10.1002/ajmg.1320410217. [DOI] [PubMed] [Google Scholar]
- Evans D. G., Huson S. M., Donnai D., Neary W., Blair V., Newton V., Harris R. A clinical study of type 2 neurofibromatosis. Q J Med. 1992 Aug;84(304):603–618. [PubMed] [Google Scholar]
- Evans D. G., Mason S., Huson S. M., Ponder M., Harding A. E., Strachan T. Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study. J Neurol Neurosurg Psychiatry. 1997 Apr;62(4):361–366. doi: 10.1136/jnnp.62.4.361. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Farah S., Al-Shubaili A., Montaser A., Hussein J. M., Malaviya A. N., Mukhtar M., Al-Shayeb A., Khuraibet A. J., Khan R., Trontelj J. V. Behçet's syndrome: a report of 41 patients with emphasis on neurological manifestations. J Neurol Neurosurg Psychiatry. 1998 Mar;64(3):382–384. doi: 10.1136/jnnp.64.3.382. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Feitosa M. F., Borecki I., Krieger H., Beiguelman B., Rao D. C. The genetic epidemiology of leprosy in a Brazilian population. Am J Hum Genet. 1995 May;56(5):1179–1185. [PMC free article] [PubMed] [Google Scholar]
- Ferner R. E., Chaudhuri R., Bingham J., Cox T., Hughes R. A. MRI in neurofibromatosis 1. The nature and evolution of increased intensity T2 weighted lesions and their relationship to intellectual impairment. J Neurol Neurosurg Psychiatry. 1993 May;56(5):492–495. doi: 10.1136/jnnp.56.5.492. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Ferner R. E., Hughes R. A., Weinman J. Intellectual impairment in neurofibromatosis 1. J Neurol Sci. 1996 Jun;138(1-2):125–133. doi: 10.1016/0022-510x(96)00022-6. [DOI] [PubMed] [Google Scholar]
- Franceschetti A. T., Philippart M., Franceschetti A. A study of Fabry's disease. I. Clinical examination of a family with cornea verticillata. Dermatologica. 1969;138(4):209–221. [PubMed] [Google Scholar]
- Gerber O., Roque C., Coyle P. K. Vasculitis owing to infection. Neurol Clin. 1997 Nov;15(4):903–925. doi: 10.1016/s0733-8619(05)70355-8. [DOI] [PubMed] [Google Scholar]
- Goldstein A. M., Goldin L. R., Dracopoli N. C., Clark W. H., Jr, Tucker M. A. Two-locus linkage analysis of cutaneous malignant melanoma/dysplastic nevi. Am J Hum Genet. 1996 May;58(5):1050–1056. [PMC free article] [PubMed] [Google Scholar]
- Guillevin L., Lhote F., Gherardi R. Polyarteritis nodosa, microscopic polyangiitis, and Churg-Strauss syndrome: clinical aspects, neurologic manifestations, and treatment. Neurol Clin. 1997 Nov;15(4):865–886. doi: 10.1016/s0733-8619(05)70352-2. [DOI] [PubMed] [Google Scholar]
- Gutmann D. H., Aylsworth A., Carey J. C., Korf B., Marks J., Pyeritz R. E., Rubenstein A., Viskochil D. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997 Jul 2;278(1):51–57. [PubMed] [Google Scholar]
- Gutmann D. H., Fischbeck K. H., Sergott R. C. Hereditary retinal vasculopathy with cerebral white matter lesions. Am J Med Genet. 1989 Oct;34(2):217–220. doi: 10.1002/ajmg.1320340217. [DOI] [PubMed] [Google Scholar]
- Guzzini F., Conti A., Esposito F. Simultaneous ischemic and hemorrhagic lesions of the brain detected by CT scan in a patient with thrombotic thrombocytopenic purpura. Haematologica. 1998 Mar;83(3):280–280. [PubMed] [Google Scholar]
- Gürler A., Boyvat A., Türsen U. Clinical manifestations of Behçet's disease: an analysis of 2147 patients. Yonsei Med J. 1997 Dec;38(6):423–427. doi: 10.3349/ymj.1997.38.6.423. [DOI] [PubMed] [Google Scholar]
- Hagerman D. A., Williams G. P. Images in clinical medicine. Some features of Fanconi's anemia. N Engl J Med. 1993 Oct 14;329(16):1168–1168. doi: 10.1056/NEJM199310143291606. [DOI] [PubMed] [Google Scholar]
- Halperin J. J. Nervous system Lyme disease. J Neurol Sci. 1998 Jan 8;153(2):182–191. doi: 10.1016/s0022-510x(97)00290-6. [DOI] [PubMed] [Google Scholar]
- Hamilton S. R., Liu B., Parsons R. E., Papadopoulos N., Jen J., Powell S. M., Krush A. J., Berk T., Cohen Z., Tetu B. The molecular basis of Turcot's syndrome. N Engl J Med. 1995 Mar 30;332(13):839–847. doi: 10.1056/NEJM199503303321302. [DOI] [PubMed] [Google Scholar]
- Happle R., Traupe H., Gröbe H., Bonsmann G. The Tay syndrome (congenital ichthyosis with trichothiodystrophy). Eur J Pediatr. 1984 Jan;141(3):147–152. doi: 10.1007/BF00443212. [DOI] [PubMed] [Google Scholar]
- Hasholt L., Sørensen S. A., Wandall A., Andersen E. B., Arlien-Søborg P. A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations. J Med Genet. 1990 May;27(5):303–306. doi: 10.1136/jmg.27.5.303. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hietaharju A., Jäntti V., Korpela M., Frey H. Nervous system involvement in systemic lupus erythematosus, Sjögren syndrome and scleroderma. Acta Neurol Scand. 1993 Oct;88(4):299–308. doi: 10.1111/j.1600-0404.1993.tb04241.x. [DOI] [PubMed] [Google Scholar]
- Honda M., Arai E., Sawada S., Ohta A., Niimura M. Neurofibromatosis 2 and neurilemmomatosis gene are identical. J Invest Dermatol. 1995 Jan;104(1):74–77. doi: 10.1111/1523-1747.ep12613537. [DOI] [PubMed] [Google Scholar]
- Hook E. W., 3rd, Marra C. M. Acquired syphilis in adults. N Engl J Med. 1992 Apr 16;326(16):1060–1069. doi: 10.1056/NEJM199204163261606. [DOI] [PubMed] [Google Scholar]
- Hudson N., Busque L., Rauch J., Kassis J., Fortin P. R. Familial antiphospholipid syndrome and HLA-DRB gene associations. Arthritis Rheum. 1997 Oct;40(10):1907–1908. doi: 10.1002/art.1780401030. [DOI] [PubMed] [Google Scholar]
- Huson S. M., Compston D. A., Clark P., Harper P. S. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet. 1989 Nov;26(11):704–711. doi: 10.1136/jmg.26.11.704. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Jacoby L. B., Jones D., Davis K., Kronn D., Short M. P., Gusella J., MacCollin M. Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet. 1997 Dec;61(6):1293–1302. doi: 10.1086/301633. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Jones A. C., Daniells C. E., Snell R. G., Tachataki M., Idziaszczyk S. A., Krawczak M., Sampson J. R., Cheadle J. P. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum Mol Genet. 1997 Nov;6(12):2155–2161. doi: 10.1093/hmg/6.12.2155. [DOI] [PubMed] [Google Scholar]
- Kaufman D. K., Kimmel D. W., Parisi J. E., Michels V. V. A familial syndrome with cutaneous malignant melanoma and cerebral astrocytoma. Neurology. 1993 Sep;43(9):1728–1731. doi: 10.1212/wnl.43.9.1728. [DOI] [PubMed] [Google Scholar]
- Khamashta M. A., Cuadrado M. J., Mujic F., Taub N. A., Hunt B. J., Hughes G. R. The management of thrombosis in the antiphospholipid-antibody syndrome. N Engl J Med. 1995 Apr 13;332(15):993–997. doi: 10.1056/NEJM199504133321504. [DOI] [PubMed] [Google Scholar]
- Kleinman P. K. Diagnostic imaging in infant abuse. AJR Am J Roentgenol. 1990 Oct;155(4):703–712. doi: 10.2214/ajr.155.4.2119097. [DOI] [PubMed] [Google Scholar]
- Lancon J. A., Haines D. E., Parent A. D. Anatomy of the shaken baby syndrome. Anat Rec. 1998 Feb;253(1):13–18. doi: 10.1002/(SICI)1097-0185(199802)253:1<13::AID-AR8>3.0.CO;2-F. [DOI] [PubMed] [Google Scholar]
- Levy H. L., Madigan P. M., Shih V. E. Massachusetts metabolic disorders screening program. I. Technics and results of urine screening. Pediatrics. 1972 Jun;49(6):825–836. [PubMed] [Google Scholar]
- Logigian E. L. Peripheral nervous system Lyme borreliosis. Semin Neurol. 1997 Mar;17(1):25–30. doi: 10.1055/s-2008-1040909. [DOI] [PubMed] [Google Scholar]
- Mantegazza R., Bernasconi P., Confalonieri P., Cornelio F. Inflammatory myopathies and systemic disorders: a review of immunopathogenetic mechanisms and clinical features. J Neurol. 1997 May;244(5):277–287. doi: 10.1007/s004150050087. [DOI] [PubMed] [Google Scholar]
- Matsui I., Tanimura M., Kobayashi N., Sawada T., Nagahara N., Akatsuka J. Neurofibromatosis type 1 and childhood cancer. Cancer. 1993 Nov 1;72(9):2746–2754. doi: 10.1002/1097-0142(19931101)72:9<2746::aid-cncr2820720936>3.0.co;2-w. [DOI] [PubMed] [Google Scholar]
- Mautner V. F., Lindenau M., Baser M. E., Hazim W., Tatagiba M., Haase W., Samii M., Wais R., Pulst S. M. The neuroimaging and clinical spectrum of neurofibromatosis 2. Neurosurgery. 1996 May;38(5):880–886. doi: 10.1097/00006123-199605000-00004. [DOI] [PubMed] [Google Scholar]
- McArthur J. C. Neurologic manifestations of AIDS. Medicine (Baltimore) 1987 Nov;66(6):407–437. doi: 10.1097/00005792-198711000-00001. [DOI] [PubMed] [Google Scholar]
- Mizuki N., Ota M., Kimura M., Ohno S., Ando H., Katsuyama Y., Yamazaki M., Watanabe K., Goto K., Nakamura S. Triplet repeat polymorphism in the transmembrane region of the MICA gene: a strong association of six GCT repetitions with Behçet disease. Proc Natl Acad Sci U S A. 1997 Feb 18;94(4):1298–1303. doi: 10.1073/pnas.94.4.1298. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Molina R., Provost T. T., Alexander E. L. Peripheral inflammatory vascular disease in Sjögren's syndrome. Association with nervous system complications. Arthritis Rheum. 1985 Dec;28(12):1341–1347. doi: 10.1002/art.1780281205. [DOI] [PubMed] [Google Scholar]
- Moore P. M., Richardson B. Neurology of the vasculitides and connective tissue diseases. J Neurol Neurosurg Psychiatry. 1998 Jul;65(1):10–22. doi: 10.1136/jnnp.65.1.10. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Mutoh T., Senda Y., Sugimura K., Koike Y., Matsuoka Y., Sobue I., Takahashi A., Naoi M. Severe orthostatic hypotension in a female carrier of Fabry's disease. Arch Neurol. 1988 Apr;45(4):468–472. doi: 10.1001/archneur.1988.00520280122030. [DOI] [PubMed] [Google Scholar]
- NEILL C. A., DINGWALL M. M. A syndrome resembling progeria: A review of two cases. Arch Dis Child. 1950 Sep;25(123):213–223. doi: 10.1136/adc.25.123.213. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Nilsen R., Mengistu G., Reddy B. B. The role of nerve biopsies in the diagnosis and management of leprosy. Lepr Rev. 1989 Mar;60(1):28–32. doi: 10.5935/0305-7518.19890004. [DOI] [PubMed] [Google Scholar]
- Noordeen S. K., Lopez Bravo L., Sundaresan T. K. Estimated number of leprosy cases in the world. Indian J Lepr. 1992 Oct-Dec;64(4):521–527. [PubMed] [Google Scholar]
- Park V. M., Pivnick E. K. Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients. J Med Genet. 1998 Oct;35(10):813–820. doi: 10.1136/jmg.35.10.813. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Parry D. M., Eldridge R., Kaiser-Kupfer M. I., Bouzas E. A., Pikus A., Patronas N. Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet. 1994 Oct 1;52(4):450–461. doi: 10.1002/ajmg.1320520411. [DOI] [PubMed] [Google Scholar]
- Patton M. A. Russell-Silver syndrome. J Med Genet. 1988 Aug;25(8):557–560. doi: 10.1136/jmg.25.8.557. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Pollack I. F., Mulvihill J. J. Neurofibromatosis 1 and 2. Brain Pathol. 1997 Apr;7(2):823–836. doi: 10.1111/j.1750-3639.1997.tb01067.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
- REED W. B., BECKER S. W., Sr, BECKER S. W., Jr, NICKEL W. R. GIANT PIGMENTED NEVI, MELANOMA, AND LEPTOMENINGEAL MELANOCYTOSIS: A CLINICAL AND HISTOPATHOLOGICAL STUDY. Arch Dermatol. 1965 Feb;91:100–119. doi: 10.1001/archderm.1965.01600080008002. [DOI] [PubMed] [Google Scholar]
- Ramos M., Mandybur T. I. Cerebral vasculitis in rheumatoid arthritis. Arch Neurol. 1975 Apr;32(4):271–275. doi: 10.1001/archneur.1975.00490460087014. [DOI] [PubMed] [Google Scholar]
- Reid M. C., Schoen R. T., Evans J., Rosenberg J. C., Horwitz R. I. The consequences of overdiagnosis and overtreatment of Lyme disease: an observational study. Ann Intern Med. 1998 Mar 1;128(5):354–362. doi: 10.7326/0003-4819-128-5-199803010-00003. [DOI] [PubMed] [Google Scholar]
- Richardus J. H., Finlay K. M., Croft R. P., Smith W. C. Nerve function impairment in leprosy at diagnosis and at completion of MDT: a retrospective cohort study of 786 patients in Bangladesh. Lepr Rev. 1996 Dec;67(4):297–305. doi: 10.5935/0305-7518.19960030. [DOI] [PubMed] [Google Scholar]
- Rund D., Schaap T., Gillis S. Intensive plasmapheresis for severe thrombotic thrombocytopenic purpura: long-term clinical outcome. J Clin Apher. 1997;12(4):194–195. doi: 10.1002/(sici)1098-1101(1997)12:4<194::aid-jca7>3.0.co;2-5. [DOI] [PubMed] [Google Scholar]
- Sack G. H., Jr, Dumars K. W., Gummerson K. S., Law A., McKusick V. A. Three forms of dominant amyloid neuropathy. Johns Hopkins Med J. 1981 Dec;149(6):239–247. [PubMed] [Google Scholar]
- Said G. Necrotizing peripheral nerve vasculitis. Neurol Clin. 1997 Nov;15(4):835–848. doi: 10.1016/s0733-8619(05)70350-9. [DOI] [PubMed] [Google Scholar]
- Schmickel R. D., Chu E. H., Trosko J. E., Chang C. C. Cockayne syndrome: a cellular sensitivity to ultraviolet light. Pediatrics. 1977 Aug;60(2):135–139. [PubMed] [Google Scholar]
- Schwabe A. D., Monroe J. B. Meningitis in familial Mediterranean fever. Am J Med. 1988 Nov;85(5):715–717. doi: 10.1016/s0002-9343(88)80248-1. [DOI] [PubMed] [Google Scholar]
- Seppälä M. T., Sainio M. A., Haltia M. J., Kinnunen J. J., Setälä K. H., Jäskeläinen J. E. Multiple schwannomas: schwannomatosis or neurofibromatosis type 2? J Neurosurg. 1998 Jul;89(1):36–41. doi: 10.3171/jns.1998.89.1.0036. [DOI] [PubMed] [Google Scholar]
- Sharma O. P., Sharma A. M. Sarcoidosis of the nervous system. A clinical approach. Arch Intern Med. 1991 Jul;151(7):1317–1321. [PubMed] [Google Scholar]
- Sigal L. H. Pitfalls in the diagnosis and management of Lyme disease. Arthritis Rheum. 1998 Feb;41(2):195–204. doi: 10.1002/1529-0131(199802)41:2<195::AID-ART3>3.0.CO;2-Y. [DOI] [PubMed] [Google Scholar]
- Stern B. J., Krumholz A., Johns C., Scott P., Nissim J. Sarcoidosis and its neurological manifestations. Arch Neurol. 1985 Sep;42(9):909–917. doi: 10.1001/archneur.1985.04060080095022. [DOI] [PubMed] [Google Scholar]
- TISHERMAN S. E., GREGG F. J., DANOWSKI T. S. Familial pheochromocytoma. JAMA. 1962 Oct 13;182:152–156. doi: 10.1001/jama.1962.03050410048010. [DOI] [PubMed] [Google Scholar]
- Tisherman S. E., Tisherman B. G., Tisherman S. A., Dunmire S., Levey G. S., Mulvihill J. J. Three-decade investigation of familial pheochromocytoma. An allele of von Hippel-Lindau disease? Arch Intern Med. 1993 Nov 22;153(22):2550–2556. [PubMed] [Google Scholar]
- Tsao B. P., Cantor R. M., Kalunian K. C., Chen C. J., Badsha H., Singh R., Wallace D. J., Kitridou R. C., Chen S. L., Shen N. Evidence for linkage of a candidate chromosome 1 region to human systemic lupus erythematosus. J Clin Invest. 1997 Feb 15;99(4):725–731. doi: 10.1172/JCI119217. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Uitti R. J., Donat J. R., Rozdilsky B., Schneider R. J., Koeppen A. H. Familial oculoleptomeningeal amyloidosis. Report of a new family with unusual features. Arch Neurol. 1988 Oct;45(10):1118–1122. doi: 10.1001/archneur.1988.00520340072015. [DOI] [PubMed] [Google Scholar]
- Upadhyaya M., Shen M., Cherryson A., Farnham J., Maynard J., Huson S. M., Harper P. S. Analysis of mutations at the neurofibromatosis 1 (NF1) locus. Hum Mol Genet. 1992 Dec;1(9):735–740. doi: 10.1093/hmg/1.9.735. [DOI] [PubMed] [Google Scholar]
- Vogel K. S., Brannan C. I., Jenkins N. A., Copeland N. G., Parada L. F. Loss of neurofibromin results in neurotrophin-independent survival of embryonic sensory and sympathetic neurons. Cell. 1995 Sep 8;82(5):733–742. doi: 10.1016/0092-8674(95)90470-0. [DOI] [PubMed] [Google Scholar]
- Webb D. W., Clarke A., Fryer A., Osborne J. P. The cutaneous features of tuberous sclerosis: a population study. Br J Dermatol. 1996 Jul;135(1):1–5. [PubMed] [Google Scholar]
- Weemaes C. M., Hustinx T. W., Scheres J. M., van Munster P. J., Bakkeren J. A., Taalman R. D. A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr Scand. 1981 Jul;70(4):557–564. doi: 10.1111/j.1651-2227.1981.tb05740.x. [DOI] [PubMed] [Google Scholar]
- Westerhof W., Beemer F. A., Cormane R. H., Delleman J. W., Faber W. R., de Jong J. G., van der Schaar W. W. Hereditary congenital hypopigmented and hyperpigmented macules. Arch Dermatol. 1978 Jun;114(6):931–936. [PubMed] [Google Scholar]
- Whitmore S. E., Rosenshein N. B., Provost T. T. Ovarian cancer in patients with dermatomyositis. Medicine (Baltimore) 1994 May;73(3):153–160. doi: 10.1097/00005792-199405000-00004. [DOI] [PubMed] [Google Scholar]
- Yasuda T., Kumazawa K., Sobue G. [Sensory ataxic neuropathy associated with Sjögren's syndrome]. Nihon Rinsho. 1995 Oct;53(10):2568–2573. [PubMed] [Google Scholar]
- van Brakel W. H., Khawas I. B. Silent neuropathy in leprosy: an epidemiological description. Lepr Rev. 1994 Dec;65(4):350–360. doi: 10.5935/0305-7518.19940036. [DOI] [PubMed] [Google Scholar]