-
1
-
-
0025326726
-
A major segment of neurofibramatosis type 1 gene: cDNA sequence, genomic structure and point mutations
-
Cawthon RM, Weiss R, Xu GF, Viskochil D, Culver M, Stevens J, Robertson M, Dunn D, Gesteland R, O'Connell P, White R. A major segment of neurofibramatosis type 1 gene: cDNA sequence, genomic structure and point mutations. Cell 1990;62:193-201.
-
(1990)
Cell
, vol.62
, pp. 193-201
-
-
Cawthon, R.M.1
Weiss, R.2
Xu, G.F.3
Viskochil, D.4
Culver, M.5
Stevens, J.6
Robertson, M.7
Dunn, D.8
Gesteland, R.9
O'Connell, P.10
White, R.11
-
2
-
-
0025369709
-
Deletions and translocations interrupt a cloned gene at the neurofibromatosis type 1 locus
-
Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, Culver M, Carey JC, Copeland NG, Jenkins NA, White R, O'Connell P. Deletions and translocations interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990;62:187-92.
-
(1990)
Cell
, vol.62
, pp. 187-192
-
-
Viskochil, D.1
Buchberg, A.M.2
Xu, G.3
Cawthon, R.M.4
Stevens, J.5
Wolff, R.K.6
Culver, M.7
Carey, J.C.8
Copeland, N.G.9
Jenkins, N.A.10
White, R.11
O'Connell, P.12
-
3
-
-
0025297599
-
Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients
-
Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL, Brownstein BH, Collins FS. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 1990;249:181-6.
-
(1990)
Science
, vol.249
, pp. 181-186
-
-
Wallace, M.R.1
Marchuk, D.A.2
Andersen, L.B.3
Letcher, R.4
Odeh, H.M.5
Saulino, A.M.6
Fountain, J.W.7
Brereton, A.8
Nicholson, J.9
Mitchell, A.L.10
Brownstein, B.H.11
Collins, F.S.12
-
4
-
-
0002928373
-
Neurofibromatosis 1: A clinical and genetical overview
-
Huson S, Hughes R, eds. London Chapman and Hall Medical
-
Huson S. Neurofibromatosis 1: a clinical and genetical overview. In Huson S, Hughes R, eds. The neurofibromotoses:a pathogenetic and clinical overview. London Chapman and Hall Medical, 1994:160-203.
-
(1994)
The Neurofibromotoses:A Pathogenetic and Clinical Overview
, pp. 160-203
-
-
Huson, S.1
-
5
-
-
0004042176
-
-
Friedman JM, Gutmann DH, MacCollin M, Riccardi VM, eds. Baltimore: Johns Hopkins University Press
-
Friedman JM, Gutmann DH, MacCollin M, Riccardi VM, eds. Neurofibromatosis: phenotype, natural history, and pathogenesis. Baltimore: Johns Hopkins University Press, 1999.
-
(1999)
Neurofibromatosis: Phenotype, Natural History, and Pathogenesis
-
-
-
6
-
-
0034530244
-
Growth in North American white children with neurofibromatosis 1 (NF1)
-
Szudek J, Birch P, Friedman J. Growth in North American white children with neurofibromatosis 1 (NF1). J Med Genet 2000;37:933-8.
-
(2000)
J Med Genet
, vol.37
, pp. 933-938
-
-
Szudek, J.1
Birch, P.2
Friedman, J.3
-
7
-
-
0035188789
-
Decreased bone mineral density in neurofibromatosis-1 patients with spinal deformities
-
Illes T, Halmai V, de Jonge T, Dubousset J. Decreased bone mineral density in neurofibromatosis-1 patients with spinal deformities. Osteoporosis Int 2001;12:823-7.
-
(2001)
Osteoporosis Int
, vol.12
, pp. 823-827
-
-
Illes, T.1
Halmai, V.2
De Jonge, T.3
Dubousset, J.4
-
8
-
-
17644419809
-
Generalized osteopenia in neurofibromatosis type 1 patients points to an underlying disorder or skeletal homeostasis and mineralization
-
Brunetti-Pierri N, Phan K, Carter S, Lewis RA, Plon S, Ellis KJ, O'Brian SE, Lee B. Generalized osteopenia in neurofibromatosis type 1 patients points to an underlying disorder or skeletal homeostasis and mineralization. Am J Hum Genet, 2003;73(suppl):s261.
-
(2003)
Am J Hum Genet
, vol.73
, Issue.SUPPL.
-
-
Brunetti-Pierri, N.1
Phan, K.2
Carter, S.3
Lewis, R.A.4
Plon, S.5
Ellis, K.J.6
O'Brian, S.E.7
Lee, B.8
-
9
-
-
23744514711
-
Decreased bone mineral density and content in neurofibromatosis type 1: Lowest local values are located in the load-carrying parts of the body
-
Kuorilehto T, Poyhonen M, Bloigu R, Heikkinen J, Vaananen K, Peltonen J. Decreased bone mineral density and content in neurofibromatosis type 1: lowest local values are located in the load-carrying parts of the body. Osteoporos Int 2004;16:928-36.
-
(2004)
Osteoporos Int
, vol.16
, pp. 928-936
-
-
Kuorilehto, T.1
Poyhonen, M.2
Bloigu, R.3
Heikkinen, J.4
Vaananen, K.5
Peltonen, J.6
-
10
-
-
24044469050
-
Decreased bone mineral density in patients with neurofibromatosis 1
-
Lammert M, Kappler M, Mautner VF, Lammert K, Storkel S, Friedman JM, Atkins D. Decreased bone mineral density in patients with neurofibromatosis 1. Osteoporos Int 2005;16:1161-6.
-
(2005)
Osteoporos Int
, vol.16
, pp. 1161-1166
-
-
Lammert, M.1
Kappler, M.2
Mautner, V.F.3
Lammert, K.4
Storkel, S.5
Friedman, J.M.6
Atkins, D.7
-
11
-
-
16544381338
-
Sunlight and vitamin D for bone health and prevention of autoimmune disease, cancers and cardiovascular disease
-
Holick M. Sunlight and vitamin D for bone health and prevention of autoimmune disease, cancers and cardiovascular disease. Am J Clin Nutr 2004;80(suppl):1678-885.
-
(2004)
Am J Clin Nutr
, vol.80
, Issue.SUPPL.
, pp. 1678-1885
-
-
Holick, M.1
-
12
-
-
0025891066
-
Hypophosphatemic osteomalacia in von Recklinghausen neurofibromatosis
-
Konishi K, Nakamura M, Yamakawa H, Suzuki H, Saruta T, Honaoka H, Davatchi F. Hypophosphatemic osteomalacia in von Recklinghausen neurofibromatosis. Am J Med Sci 1991;301:322-8.
-
(1991)
Am J Med Sci
, vol.301
, pp. 322-328
-
-
Konishi, K.1
Nakamura, M.2
Yamakawa, H.3
Suzuki, H.4
Saruta, T.5
Honaoka, H.6
Davatchi, F.7
-
13
-
-
0033112944
-
Vitamin D3 analogues improve cafe au lait spots in patients with von Recklinghausen's disease: Experimental and clinical studies
-
Nakayama J, Kiryu H, Urabe K, Matsuo S, Shibata S, Koga T, Furue M. Vitamin D3 analogues improve cafe au lait spots in patients with von Recklinghausen's disease: experimental and clinical studies. Eur J Dermatol 1999;9:202-6.
-
(1999)
Eur J Dermatol
, vol.9
, pp. 202-206
-
-
Nakayama, J.1
Kiryu, H.2
Urabe, K.3
Matsuo, S.4
Shibata, S.5
Koga, T.6
Furue, M.7
-
14
-
-
0030957310
-
The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
-
Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, Rubenstein A, Viskochil D. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997;278:51-7.
-
(1997)
JAMA
, vol.278
, pp. 51-57
-
-
Gutmann, D.H.1
Aylsworth, A.2
Carey, J.C.3
Korf, B.4
Marks, J.5
Pyeritz, R.E.6
Rubenstein, A.7
Viskochil, D.8
-
15
-
-
0037709936
-
Prevalence of vitamin D insufficiency in Canada and the United States: Importance to health status and efficacy of current food fortification and dietary supplement use
-
Calvo M, Whiting S. Prevalence of vitamin D insufficiency in Canada and the United States: importance to health status and efficacy of current food fortification and dietary supplement use. Nutr Rev 2003;61:107-13.
-
(2003)
Nutr Rev
, vol.61
, pp. 107-113
-
-
Calvo, M.1
Whiting, S.2
-
16
-
-
27644454006
-
Vitamin D: Important for prevention of osteoporosis, cardiovascular heart disease, type 1 diabetes, autoimmune diseases, and some cancers
-
Holick MF. Vitamin D: important for prevention of osteoporosis, cardiovascular heart disease, type 1 diabetes, autoimmune diseases, and some cancers. South Med J 2005;98:1024-7.
-
(2005)
South Med J
, vol.98
, pp. 1024-1027
-
-
Holick, M.F.1
-
17
-
-
0036096489
-
Malignant peripheral nerve sheath tumours in neurofibromatosis 1
-
Evans DG, Baser ME, McGaughran J, Sharif S, Howard E, Moran A. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet 2002;39:311-14.
-
(2002)
J Med Genet
, vol.39
, pp. 311-314
-
-
Evans, D.G.1
Baser, M.E.2
McGaughran, J.3
Sharif, S.4
Howard, E.5
Moran, A.6
-
18
-
-
0028902601
-
Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Goteborg, Sweden
-
Zoller M, Rembeck B, Akesson HO, Angervall L. Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Goteborg, Sweden. Acta Derm Venereol 1995;75:136-40.
-
(1995)
Acta Derm Venereol
, vol.75
, pp. 136-140
-
-
Zoller, M.1
Rembeck, B.2
Akesson, H.O.3
Angervall, L.4
-
19
-
-
0035025409
-
Mortality in neurofibromatosis 1: An analysis using U.S. death certificates
-
Rasmussen S, Yang Q, Friedman J. Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet 2001;68:1110-18.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1110-1118
-
-
Rasmussen, S.1
Yang, Q.2
Friedman, J.3
-
20
-
-
0031778870
-
CT imaging in adults with neurofibromatosis-1: Frequent asymptomatic plexiform lesions
-
Tonsgard JH, Kwak SM, Short MP, Dachman AH. CT imaging in adults with neurofibromatosis-1: frequent asymptomatic plexiform lesions. Neurology 1998;50:1755-60.
-
(1998)
Neurology
, vol.50
, pp. 1755-1760
-
-
Tonsgard, J.H.1
Kwak, S.M.2
Short, M.P.3
Dachman, A.H.4
-
21
-
-
0032880697
-
Spinal tumours in neurofibromatosis type 1: An MRI study of frequency, multiplicity and variety
-
Thakkar S, Feigen U, Mautner V. Spinal tumours in neurofibromatosis type 1: an MRI study of frequency, multiplicity and variety. Neuroradiology 1999;41:625-9.
-
(1999)
Neuroradiology
, vol.41
, pp. 625-629
-
-
Thakkar, S.1
Feigen, U.2
Mautner, V.3
-
22
-
-
0035936783
-
NF1 tumor suppressor gene function: Narrowing the GAP
-
Cichowski K, Jacks T. NF1 tumor suppressor gene function: narrowing the GAP. Cell 2001;104:593-604.
-
(2001)
Cell
, vol.104
, pp. 593-604
-
-
Cichowski, K.1
Jacks, T.2
-
23
-
-
0037310530
-
Neurofibromatosis 1: Closing the GAP between mice and men
-
Dasgupta B, Gutmann D. Neurofibromatosis 1: closing the GAP between mice and men. Curr Opin Genet Dev 2003;13:20-7.
-
(2003)
Curr Opin Genet Dev
, vol.13
, pp. 20-27
-
-
Dasgupta, B.1
Gutmann, D.2
-
24
-
-
16644392408
-
NF1 tumor suppressor protein and mRNA in skeletal tissues of developing and adult normal mouse and NF1-deficient embryos
-
Kuorilehto T, Nissinen M, Koivunen J, Benson MD, Peltonen J. NF1 tumor suppressor protein and mRNA in skeletal tissues of developing and adult normal mouse and NF1-deficient embryos. J Bone Miner Res 2004;19:983-9.
-
(2004)
J Bone Miner Res
, vol.19
, pp. 983-989
-
-
Kuorilehto, T.1
Nissinen, M.2
Koivunen, J.3
Benson, M.D.4
Peltonen, J.5
-
25
-
-
20944447547
-
Neurofibromin and its inactivation of Ras are prerequisites for osteoblast functioning
-
Yu X, Chen S, Potter OL, Murthy SM, Li J, Pulcini JM, Ohashi N, Winata T, Everett ET, Ingram D, Clapp WD, Hock JM. Neurofibromin and its inactivation of Ras are prerequisites for osteoblast functioning. Bone 2005;36:793-802.
-
(2005)
Bone
, vol.36
, pp. 793-802
-
-
Yu, X.1
Chen, S.2
Potter, O.L.3
Murthy, S.M.4
Li, J.5
Pulcini, J.M.6
Ohashi, N.7
Winata, T.8
Everett, E.T.9
Ingram, D.10
Clapp, W.D.11
Hock, J.M.12
-
26
-
-
0034985665
-
Studies of the effects of 1,25-dihydroxyvitamin D on skeletal and calcium homeostasis and on inhibition of tumor cell growth
-
Goltzman D, White J, Kremer R. Studies of the effects of 1,25-dihydroxyvitamin D on skeletal and calcium homeostasis and on inhibition of tumor cell growth. J Steroid Biochem Mol Biol 2001;76:43-7.
-
(2001)
J Steroid Biochem Mol Biol
, vol.76
, pp. 43-47
-
-
Goltzman, D.1
White, J.2
Kremer, R.3
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