-
1
-
-
0030984645
-
Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion
-
Ainsworth PJ, Chakraborty PK, Weksberg R. 1997. Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion. Hum Mutat 9:452-457.
-
(1997)
Hum Mutat
, vol.9
, pp. 452-457
-
-
Ainsworth, P.J.1
Chakraborty, P.K.2
Weksberg, R.3
-
2
-
-
26144444059
-
Familial neurofibromatosis resulting from a probable germinal mutation
-
Berry SA, King RA, Whitley CB, Riccardi VM, Pierpont MEM. 1984. Familial neurofibromatosis resulting from a probable germinal mutation. Am J Hum Genet 36:44s.
-
(1984)
Am J Hum Genet
, vol.36
-
-
Berry, S.A.1
King, R.A.2
Whitley, C.B.3
Riccardi, V.M.4
Pierpont, M.E.M.5
-
3
-
-
76949130721
-
Clinical and genetic investigations into tuberous sclerosis and Recklinghausen's neurofibromatosis: Contributions to elucidation of interrelationship and eugenics of the syndromes
-
Borberg A. 1951. Clinical and genetic investigations into tuberous sclerosis and Recklinghausen's neurofibromatosis: contributions to elucidation of interrelationship and eugenics of the syndromes. Acta Psychiatr Neurol Scand 71(suppl):1-239.
-
(1951)
Acta Psychiatr Neurol Scand
, vol.71
, Issue.SUPPL.
, pp. 1-239
-
-
Borberg, A.1
-
4
-
-
0028349997
-
Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues
-
Brannan CI, Perkins AS, Vogel KS, Ratner N, Norlund ML, Reid SW, Buchberg AM, Jenkins NA, Parada LF, Copeland NG. 1994. Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Genes Dev 8: 1019-1029.
-
(1994)
Genes Dev
, vol.8
, pp. 1019-1029
-
-
Brannan, C.I.1
Perkins, A.S.2
Vogel, K.S.3
Ratner, N.4
Norlund, M.L.5
Reid, S.W.6
Buchberg, A.M.7
Jenkins, N.A.8
Parada, L.F.9
Copeland, N.G.10
-
5
-
-
0015257144
-
Van Recklinghausen's disease: A clinicopathological study
-
Brasfield RD, Das Gupta TK. 1972. Van Recklinghausen's disease: a clinicopathological study. Ann Surg 175:86-104.
-
(1972)
Ann Surg
, vol.175
, pp. 86-104
-
-
Brasfield, R.D.1
Das Gupta, T.K.2
-
6
-
-
0030699993
-
Paternal age and sporadic neurofibromatosis 1: A case-control study and consideration of methodologic issues
-
Bunin GR, Needle M, Riccardi VM. 1997. Paternal age and sporadic neurofibromatosis 1: a case-control study and consideration of methodologic issues. Genet Epidemiol 14: 507-516.
-
(1997)
Genet Epidemiol
, vol.14
, pp. 507-516
-
-
Bunin, G.R.1
Needle, M.2
Riccardi, V.M.3
-
7
-
-
0025217744
-
Somatostatin-producing duodenal carcinoid in patients with von Recklinghausen's neurofibromatosis: A predilection for black patients
-
Burke AP. Sobin LH, Shekitka KM, Federspiel BH, Helwig EB. 1990. Somatostatin-producing duodenal carcinoid in patients with von Recklinghausen's neurofibromatosis: a predilection for black patients. Cancer 65:1591-1595.
-
(1990)
Cancer
, vol.65
, pp. 1591-1595
-
-
Burke, A.P.1
Sobin, L.H.2
Shekitka, K.M.3
Federspiel, B.H.4
Helwig, E.B.5
-
8
-
-
0018604894
-
Penetrance and variability in neurofibromatosis: A genetic study of 60 families
-
Carey JC, Laub JM, Hall BD. 1979. Penetrance and variability in neurofibromatosis: a genetic study of 60 families. Birth Defects 15(5B):271-281.
-
(1979)
Birth Defects
, vol.15
, Issue.5 B
, pp. 271-281
-
-
Carey, J.C.1
Laub, J.M.2
Hall, B.D.3
-
9
-
-
0028019769
-
Parent-of-origin effects in multiple endocrine neoplasia type 2B
-
Carlson KM, Bracamontes J, Jackson CE, Clark R, Lacroix A, Wells SA, Goodfellow PJ. 1994. Parent-of-origin effects in multiple endocrine neoplasia type 2B. Am J Hum Genet 55:1076-1082.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 1076-1082
-
-
Carlson, K.M.1
Bracamontes, J.2
Jackson, C.E.3
Clark, R.4
Lacroix, A.5
Wells, S.A.6
Goodfellow, P.J.7
-
10
-
-
0025186923
-
Neurofibromatosis-1: A maximum likelihood estimation of mutation rate
-
Clementi M, Barbujani G, Turolla L, Tenconi R. 1990. Neurofibromatosis-1: a maximum likelihood estimation of mutation rate. Hum Genet 84:116-118.
-
(1990)
Hum Genet
, vol.84
, pp. 116-118
-
-
Clementi, M.1
Barbujani, G.2
Turolla, L.3
Tenconi, R.4
-
11
-
-
0031809010
-
A prospective 10 year follow up study of patients with neurofibromatosis type 1
-
Cnossen MH, de Goede-Bolder A. van den Broek KM, Waasdorp CME, Oranje AP, Stroink H, Simonsz HJ, van den Ouweland AMW, Halley DJJ, Niermeijer MF. 1998. A prospective 10 year follow up study of patients with neurofibromatosis type 1. Arch Dis Child 78:408-412.
-
(1998)
Arch Dis Child
, vol.78
, pp. 408-412
-
-
Cnossen, M.H.1
De Goede-Bolder, A.2
Van Den Broek, K.M.3
Waasdorp, C.M.E.4
Oranje, A.P.5
Stroink, H.6
Simonsz, H.J.7
Van Den Ouweland, A.M.W.8
Halley, D.J.J.9
Niermeijer, M.F.10
-
13
-
-
0025744705
-
Mechanisms of insertional mutagenesis in human genes causing genetic disease
-
Cooper DN, Krawczak M. 1991. Mechanisms of insertional mutagenesis in human genes causing genetic disease. Hum Genet 87: 409-415.
-
(1991)
Hum Genet
, vol.87
, pp. 409-415
-
-
Cooper, D.N.1
Krawczak, M.2
-
14
-
-
0018185292
-
Molecular basis of base substitution hotspots in Escherichia coli
-
Coulondre C, Miller JH, Farabaugh PJ, Gilbert W. 1978. Molecular basis of base substitution hotspots in Escherichia coli. Nature 274: 775-780.
-
(1978)
Nature
, vol.274
, pp. 775-780
-
-
Coulondre, C.1
Miller, J.H.2
Farabaugh, P.J.3
Gilbert, W.4
-
15
-
-
0003820308
-
-
Springfield, Ill: Charles C Thomas
-
Crowe FW, Schull WJ, Neel JV. 1956. A clinical, pathological, and genetic study of multiple neurofibromatosis. Springfield, Ill: Charles C Thomas.
-
(1956)
A Clinical, Pathological, and Genetic Study of Multiple Neurofibromatosis
-
-
Crowe, F.W.1
Schull, W.J.2
Neel, J.V.3
-
16
-
-
84882489429
-
Use of the NIH criteria for diagnosis of NF1 in children
-
in press
-
DeBella K, Szudek J, Friedman JM. 1999. Use of the NIH criteria for diagnosis of NF1 in children. Pediatrics (in press).
-
(1999)
Pediatrics
-
-
DeBella, K.1
Szudek, J.2
Friedman, J.M.3
-
17
-
-
0030923504
-
Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene
-
Dryja TP, Morrow JF, Rapaport JM. 1997. Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene. Hum Genet 100:446-449.
-
(1997)
Hum Genet
, vol.100
, pp. 446-449
-
-
Dryja, T.P.1
Morrow, J.F.2
Rapaport, J.M.3
-
18
-
-
0027985789
-
Neurofibromatosis type I (NFI) in Israeli families: Linkage analysis as a diagnostic tool
-
Elyakim S, Lerer I, Zlotogora J, Sagi M, Gelman-Kohan Z, Merin S, Abeliovich D. 1994. Neurofibromatosis type I (NFI) in Israeli families: linkage analysis as a diagnostic tool. Am J Med Genet 53:325-334.
-
(1994)
Am J Med Genet
, vol.53
, pp. 325-334
-
-
Elyakim, S.1
Lerer, I.2
Zlotogora, J.3
Sagi, M.4
Gelman-Kohan, Z.5
Merin, S.6
Abeliovich, D.7
-
19
-
-
0030966414
-
Type 1 neurofibromatosis: A descriptive analysis of the disorder in 1,728 patients
-
Friedman JM, Birch PH. 1997a. Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. Am J Med Genet 70:138-143.
-
(1997)
Am J Med Genet
, vol.70
, pp. 138-143
-
-
Friedman, J.M.1
Birch, P.H.2
-
20
-
-
0030786387
-
An association between optic glioma and other tumours of the central nervous system in neurofibromatosis type 1
-
Friedman JM, Birch P. 1997b. An association between optic glioma and other tumours of the central nervous system in neurofibromatosis type 1. Neuropediatrics 28:131-132.
-
(1997)
Neuropediatrics
, vol.28
, pp. 131-132
-
-
Friedman, J.M.1
Birch, P.2
-
21
-
-
0027395630
-
National neurofibromatosis foundation international database
-
Friedman JM, Green C, Birch P, and the NNFF International Database Participants. 1993. National Neurofibromatosis Foundation International Database. Am J Med Genet 45:88-91.
-
(1993)
Am J Med Genet
, vol.45
, pp. 88-91
-
-
Friedman, J.M.1
Green, C.2
Birch, P.3
-
22
-
-
0024782079
-
Prevalence of von Recklinghausen neurofibromatosis in Dunedin, New Zealand
-
Fuller LC, Cox B, Gardner RJM. 1989. Prevalence of von Recklinghausen neurofibromatosis in Dunedin, New Zealand. Neurofibromatosis 2:278-283.
-
(1989)
Neurofibromatosis
, vol.2
, pp. 278-283
-
-
Fuller, L.C.1
Cox, B.2
Gardner, R.J.M.3
-
23
-
-
0027434848
-
Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: Implications for the diagnosis and screening of genetic diseases
-
Gasparini P, Grifa A, Origone P, Coviello D, Antonacci R, Rocchi M. 1993. Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases. Mol Cell Probes 7:415-418.
-
(1993)
Mol Cell Probes
, vol.7
, pp. 415-418
-
-
Gasparini, P.1
Grifa, A.2
Origone, P.3
Coviello, D.4
Antonacci, R.5
Rocchi, M.6
-
24
-
-
0029905849
-
Neurofibromatosis type 1: An update and review for the primary pediatrician
-
Goldberg Y, Dibbern K, Klein J, Riccardi VM, Graham JM. 1996. Neurofibromatosis type 1: an update and review for the primary pediatrician. Clin Pediatr (Phila) 35:545-561.
-
(1996)
Clin Pediatr (Phila)
, vol.35
, pp. 545-561
-
-
Goldberg, Y.1
Dibbern, K.2
Klein, J.3
Riccardi, V.M.4
Graham, J.M.5
-
25
-
-
0027359989
-
Molecular analysis of new mutations for Huntington's disease: Intermediate alleles and sex of origin effects
-
Goldberg YP, Kremer B, Andrew SE, Theilmann J, Graham RK, Squitieri F, Telenius H, Adam S, Sajoo A, Starr E, Heiberg A, Wolff G, Hayden MR. 1993. Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nature Genet 5:174-179.
-
(1993)
Nature Genet
, vol.5
, pp. 174-179
-
-
Goldberg, Y.P.1
Kremer, B.2
Andrew, S.E.3
Theilmann, J.4
Graham, R.K.5
Squitieri, F.6
Telenius, H.7
Adam, S.8
Sajoo, A.9
Starr, E.10
Heiberg, A.11
Wolff, G.12
Hayden, M.R.13
-
26
-
-
0030957310
-
The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
-
Gutmann DH, Aylsworth A, Carey JC, Korf B, MarksJ, Pyeritz RE, Rubenstein A, Viskochil D. 1997. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 278:51-57.
-
(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
-
27
-
-
0002928373
-
Neurofibromatosis 1: A clinical and genetic overview
-
Huson SM, Hughes RAC, editors. London: Chapman & Hall
-
Huson SM. 1994. Neurofibromatosis 1: a clinical and genetic overview. In: Huson SM, Hughes RAC, editors. The neurofibromatoses: a pathogenic and clinical overview. London: Chapman & Hall, p 160-203.
-
(1994)
The Neurofibromatoses: A Pathogenic and Clinical Overview
, pp. 160-203
-
-
Huson, S.M.1
-
28
-
-
0024456038
-
A genetic study of von Recklinghausen neurofibromatosis in southeast Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity
-
Huson SM, Compston DAS, Clark P, Harper PS. 1989a. A genetic study of von Recklinghausen neurofibromatosis in southeast Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 26:704-711.
-
(1989)
J Med Genet
, vol.26
, pp. 704-711
-
-
Huson, S.M.1
Compston, D.A.S.2
Clark, P.3
Harper, P.S.4
-
29
-
-
0024453106
-
A genetic study of von Recklinghausen neurofibromatosis in southeast Wales. II. Guidelines for genetic counselling
-
Huson SM, Compston DAS, Harper PS. 1989b. A genetic study of von Recklinghausen neurofibromatosis in southeast Wales. II. Guidelines for genetic counselling. J Med Genet 26:712-721.
-
(1989)
J Med Genet
, vol.26
, pp. 712-721
-
-
Huson, S.M.1
Compston, D.A.S.2
Harper, P.S.3
-
30
-
-
0024205878
-
Von Recklinghausen neurofibromatosis: A clinical and population study in South-East Wales
-
Huson SM, Harper PS, Compston DAS. 1988. Von Recklinghausen neurofibromatosis: a clinical and population study in South-East Wales. Brain 111:1355-1381.
-
(1988)
Brain
, vol.111
, pp. 1355-1381
-
-
Huson, S.M.1
Harper, P.S.2
Compston, D.A.S.3
-
31
-
-
0028307836
-
Tumour predisposition in mice heterozygous for targeted mutation of Nf1
-
Jacks T, Shih TS, Schmitt EM, Bronson RT, Bernards A, Weinberg RA. 1994. Tumour predisposition in mice heterozygous for targeted mutation of Nf1. Nature Genet 7: 353-361.
-
(1994)
Nature Genet
, vol.7
, pp. 353-361
-
-
Jacks, T.1
Shih, T.S.2
Schmitt, E.M.3
Bronson, R.T.4
Bernards, A.5
Weinberg, R.A.6
-
32
-
-
0025097932
-
Paternal origin of new mutations in von Recklinghausen neurofibromatosis
-
Jadayel D, Fain P, Upadhyaya M, Ponder MA, Huson SM, Carey J, Fryer A, Mathew CGP, Barker DF, Ponder BAJ. 1990. Paternal origin of new mutations in von Recklinghausen neurofibromatosis. Nature 343:558-559.
-
(1990)
Nature
, vol.343
, pp. 558-559
-
-
Jadayel, D.1
Fain, P.2
Upadhyaya, M.3
Ponder, M.A.4
Huson, S.M.5
Carey, J.6
Fryer, A.7
Mathew, C.G.P.8
Barker, D.F.9
Ponder, B.A.J.10
-
33
-
-
0028333031
-
Parental origin of germ-line and somatic mutations in the retinoblastoma gene
-
Kato MV, Ishizaki K, Shimzu T, Ejima Y, Tanooka H, Takayama J, Kaneko A, Toguchida J, Sasaki MS. 1994. Parental origin of germ-line and somatic mutations in the retinoblastoma gene. Hum Genet 94:31-38.
-
(1994)
Hum Genet
, vol.94
, pp. 31-38
-
-
Kato, M.V.1
Ishizaki, K.2
Shimzu, T.3
Ejima, Y.4
Tanooka, H.5
Takayama, J.6
Kaneko, A.7
Toguchida, J.8
Sasaki, M.S.9
-
34
-
-
0026549848
-
Origin of mutation in sporadic cases of haemophilia-B
-
Kling S, Ljung R, Sjörin E, Montandon J, Green H, Giannelli F, Nilsson IM. 1992. Origin of mutation in sporadic cases of haemophilia-B. Eur J Haematol 48:142-145.
-
(1992)
Eur J Haematol
, vol.48
, pp. 142-145
-
-
Kling, S.1
Ljung, R.2
Sjörin, E.3
Montandon, J.4
Green, H.5
Giannelli, F.6
Nilsson, I.M.7
-
35
-
-
0026475254
-
Diagnostic outcome in children with multiple café au lait spots
-
Korf BR. 1992. Diagnostic outcome in children with multiple café au lait spots. Pediatrics 90:924-927.
-
(1992)
Pediatrics
, vol.90
, pp. 924-927
-
-
Korf, B.R.1
-
36
-
-
0025762012
-
Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
-
Krawczak M, Cooper DN. 1991. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86:425-444.
-
(1991)
Hum Genet
, vol.86
, pp. 425-444
-
-
Krawczak, M.1
Cooper, D.N.2
-
37
-
-
0029969028
-
Sex differences in mutational rate and mutacional mechanism in the NF1 gene in neurofibromatosis type 1 patients
-
Lázaro C, Gaona A, Ainsworth P, Tenconi R, Vidaud D, Kruyer H, Ars E, Volpini V, Estivill X. 1996. Sex differences in mutational rate and mutacional mechanism in the NF1 gene in neurofibromatosis type 1 patients. Hum Genet 98:696-699.
-
(1996)
Hum Genet
, vol.98
, pp. 696-699
-
-
Lázaro, C.1
Gaona, A.2
Ainsworth, P.3
Tenconi, R.4
Vidaud, D.5
Kruyer, H.6
Ars, E.7
Volpini, V.8
Estivill, X.9
-
38
-
-
0028848110
-
Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germline mosaicism
-
Lázaro C, Gaona A, Lynch M, Kruyer H, Ravella A, Estivill X. 1995. Molecular characterization of the breakpoints of a 12-kb deletion in the MF1 gene in a family showing germline mosaicism. Am J Hum Genet 57:1044-1049.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1044-1049
-
-
Lázaro, C.1
Gaona, A.2
Lynch, M.3
Kruyer, H.4
Ravella, A.5
Estivill, X.6
-
39
-
-
0028779847
-
Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father
-
Lázaro C, Ravella A, Gaona A, Volpini V, Estivill X. 1994. Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. N Engl J Med 331:1403-1407.
-
(1994)
N Engl J Med
, vol.331
, pp. 1403-1407
-
-
Lázaro, C.1
Ravella, A.2
Gaona, A.3
Volpini, V.4
Estivill, X.5
-
40
-
-
0026641318
-
NF-1 related locus on chromosome 15
-
Legius E, Marchuk DA, Hall BK, Andersen LB, Wallace MR, Collins FS, Glover TW. 1992. NF-1 related locus on chromosome 15. Genomics 13:1316-1318.
-
(1992)
Genomics
, vol.13
, pp. 1316-1318
-
-
Legius, E.1
Marchuk, D.A.2
Hall, B.K.3
Andersen, L.B.4
Wallace, M.R.5
Collins, F.S.6
Glover, T.W.7
-
41
-
-
0025291624
-
Segregation analysis of peripheral neurofibromatosis (NF1)
-
Littler M, Morton NE. 1990. Segregation analysis of peripheral neurofibromatosis (NF1). J Med Genet 27:307-310.
-
(1990)
J Med Genet
, vol.27
, pp. 307-310
-
-
Littler, M.1
Morton, N.E.2
-
43
-
-
0029983638
-
Exclusive paternal origin of new mutations in Apert syndrome
-
Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G, Wilkie AOM. 1996. Exclusive paternal origin of new mutations in Apert syndrome. Nature Genet 13:48-53.
-
(1996)
Nature Genet
, vol.13
, pp. 48-53
-
-
Moloney, D.M.1
Slaney, S.F.2
Oldridge, M.3
Wall, S.A.4
Sahlin, P.5
Stenman, G.6
Wilkie, A.O.M.7
-
44
-
-
0023885121
-
Neurofibromatosis: Conference statement
-
National Institutes of Health Consensus Development Conference. 1988. Neurofibromatosis: Conference statement. Arch Neurol 45:575-578.
-
(1988)
Arch Neurol
, vol.45
, pp. 575-578
-
-
-
45
-
-
0025070974
-
Neurofibromatosis in Japan
-
Ishibashi Y, Hori Y, editors. Amsterdam: Elsevier
-
Niimura M. 1990. Neurofibromatosis in Japan. In: Ishibashi Y, Hori Y, editors. Tuberous sclerosis and neurofibromatosis: epidemiology, pathophysiology, biology, and management. Amsterdam: Elsevier, p 23-31.
-
(1990)
Tuberous Sclerosis and Neurofibromatosis: Epidemiology, Pathophysiology, Biology, and Management
, pp. 23-31
-
-
Niimura, M.1
-
46
-
-
0027423592
-
Neurofibromatosis type 1: Review of the first 200 patients in an Australian clinic
-
North K. 1993. Neurofibromatosis type 1: review of the first 200 patients in an Australian clinic. J Child Neurol 8:395-402.
-
(1993)
J Child Neurol
, vol.8
, pp. 395-402
-
-
North, K.1
-
47
-
-
0024362911
-
The diagnosis of neurofibromatosis-1 in the child under the age of 6 years
-
Obringer AC, Meadows AT, Zackai EH. 1989. The diagnosis of neurofibromatosis-1 in the child under the age of 6 years. Am J Dis Child 143:717-719.
-
(1989)
Am J Dis Child
, vol.143
, pp. 717-719
-
-
Obringer, A.C.1
Meadows, A.T.2
Zackai, E.H.3
-
48
-
-
0027759563
-
Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: Unequal non-sister chromatid exchange during spermatogenesis
-
Palau F, Löfgren A, De Jonghe P, Bort S, Nelis E, Sevilla T, Martin J-J, Vilchez J, Prieto F, van Broeckhoven C. 1993. Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal non-sister chromatid exchange during spermatogenesis. Hum Mol Genet 2:2031-2035.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2031-2035
-
-
Palau, F.1
Löfgren, A.2
De Jonghe, P.3
Bort, S.4
Nelis, E.5
Sevilla, T.6
Martin, J.-J.7
Vilchez, J.8
Prieto, F.9
Van Broeckhoven, C.10
-
49
-
-
0023487457
-
Genetic linkage studies on chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF-1)
-
Pericak-Vance MA, Yamaoka LH, Vance JM, Small K, Rosenwasser GOD, Gaskell PC, Hung W-Y, Alberts MJ, Haynes CS, Speer MC, Gilbert JR, Herbstreith M, Aylsworth AS, Roses AD. 1987. Genetic linkage studies on chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF-1). Genomics 1:349-352.
-
(1987)
Genomics
, vol.1
, pp. 349-352
-
-
Pericak-Vance, M.A.1
Yamaoka, L.H.2
Vance, J.M.3
Small, K.4
Rosenwasser, G.O.D.5
Gaskell, P.C.6
Hung, W.-Y.7
Alberts, M.J.8
Haynes, C.S.9
Speer, M.C.10
Gilbert, J.R.11
Herbstreith, M.12
Aylsworth, A.S.13
Roses, A.D.14
-
50
-
-
0031035338
-
Risk of malignancy and death in neurofibromatosis
-
Poyhonen M, Niemela S, Herva R. 1997. Risk of malignancy and death in neurofibromatosis. Arch Pathol Lab Med 121:139-143.
-
(1997)
Arch Pathol Lab Med
, vol.121
, pp. 139-143
-
-
Poyhonen, M.1
Niemela, S.2
Herva, R.3
-
51
-
-
0029560551
-
Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids
-
Purandare SM, Breidenbach HH, Li Y, Zhu XL, Sawada S. Neil SM, Brothman A, White R, Cawthon R, Viskochil D. 1995. Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids. Genomics 30:476-485.
-
(1995)
Genomics
, vol.30
, pp. 476-485
-
-
Purandare, S.M.1
Breidenbach, H.H.2
Li, Y.3
Zhu, X.L.4
Sawada, S.5
Neil, S.M.6
Brothman, A.7
White, R.8
Cawthon, R.9
Viskochil, D.10
-
52
-
-
0019834061
-
Von Recklinghausen neurofibromatosis
-
Riccardi VM. 1981. Von Recklinghausen neurofibromatosis. N Engl J Med 305:1617-1627.
-
(1981)
N Engl J Med
, vol.305
, pp. 1617-1627
-
-
Riccardi, V.M.1
-
54
-
-
0027427198
-
Genotype, malleotype, phenotype, and randomness: Lessons from neurofibromatosis-I (NF-I)
-
Riccardi VM, 1993. Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-I (NF-I). Am J Hum Genet 53:301-304.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 301-304
-
-
Riccardi, V.M.1
-
55
-
-
0021340542
-
The pathophysiology of neurofibromatosis: IX. Paternal age as a factor in the origin of new mutations
-
Riccardi VM, Dobson CE, Chakraborty R, Bontke C. 1984. The pathophysiology of neurofibromatosis: IX. Paternal age as a factor in the origin of new mutations. Am J Med Genet 18:169-176.
-
(1984)
Am J Med Genet
, vol.18
, pp. 169-176
-
-
Riccardi, V.M.1
Dobson, C.E.2
Chakraborty, R.3
Bontke, C.4
-
57
-
-
0023940296
-
Penetrance of von Recklinghausen neurofibromatosis: A distinction between predecessors and descendants
-
Riccardi VM, Lewis RA. 1988. Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants. Am J Hum Genet 42:284-289.
-
(1988)
Am J Hum Genet
, vol.42
, pp. 284-289
-
-
Riccardi, V.M.1
Lewis, R.A.2
-
58
-
-
0031876598
-
A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications
-
Ritchie RJ, Mattei MG, Lalande M. 1998. A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications. Hum Mol Genet 7:1253-1260.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1253-1260
-
-
Ritchie, R.J.1
Mattei, M.G.2
Lalande, M.3
-
59
-
-
0030715346
-
Homonucleotide tracts, short repeats and CpG/CpNpG motifs are frequent sites for heterogeneous mutations in the neurofibromatosis type 1 (NF1) tumour-suppressor gene
-
Rodenhiser DI, Andrews JD, Mancini DN, Jung JH, Singh SM. 1997. Homonucleotide tracts, short repeats and CpG/CpNpG motifs are frequent sites for heterogeneous mutations in the neurofibromatosis type 1 (NF1) tumour-suppressor gene. Mutat Res 373:185-195.
-
(1997)
Mutat Res
, vol.373
, pp. 185-195
-
-
Rodenhiser, D.I.1
Andrews, J.D.2
Mancini, D.N.3
Jung, J.H.4
Singh, S.M.5
-
60
-
-
0024446831
-
Neurofibromatosis in Gothenburg, Sweden. IV. Genetic analyses
-
Samuelsson B, Akesson HO. 1989. Neurofibromatosis in Gothenburg, Sweden. IV. Genetic analyses. Neurofibromatosis 2:107-115.
-
(1989)
Neurofibromatosis
, vol.2
, pp. 107-115
-
-
Samuelsson, B.1
Akesson, H.O.2
-
61
-
-
0019764688
-
Neurofibromatosis: A clinical and genetic study of 96 cases in Gothenburg, Sweden
-
Samuelsson B, Axelsson R. 1981. Neurofibromatosis: a clinical and genetic study of 96 cases in Gothenburg, Sweden. Acta Derm Venereol Suppl (Stockh) 95:67-71.
-
(1981)
Acta Derm Venereol Suppl (Stockh)
, vol.95
, pp. 67-71
-
-
Samuelsson, B.1
Axelsson, R.2
-
62
-
-
0024339874
-
Neurofibromatosis in Gothenburg, Sweden. I. Background, study design and epidemiology
-
Samuelsson B, Samuelsson S. 1989. Neurofibromatosis in Gothenburg, Sweden. I. Background, study design and epidemiology. Neurofibromatosis 2:6-22.
-
(1989)
Neurofibromatosis
, vol.2
, pp. 6-22
-
-
Samuelsson, B.1
Samuelsson, S.2
-
63
-
-
0016815330
-
On the mutation rate of neurofibromatosis
-
Sergeyev AS. 1975. On the mutation rate of neurofibromatosis. Hum Genet 28:129-138.
-
(1975)
Hum Genet
, vol.28
, pp. 129-138
-
-
Sergeyev, A.S.1
-
64
-
-
0030024492
-
Molecular genetics of neurofibromatosis type 1 (NF1)
-
Shen MH, Harper PS, Upadhyaya M. 1996. Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet 33:2-17.
-
(1996)
J Med Genet
, vol.33
, pp. 2-17
-
-
Shen, M.H.1
Harper, P.S.2
Upadhyaya, M.3
-
65
-
-
0022832169
-
On the natural history of von Recklinghausen neurofibromatosis
-
Sørensen SA, Mulvihill JJ, Nielsen A. 1986a. On the natural history of von Recklinghausen neurofibromatosis. Ann N Y Acad Sci 486: 30-37.
-
(1986)
Ann N Y Acad Sci
, vol.486
, pp. 30-37
-
-
Sørensen, S.A.1
Mulvihill, J.J.2
Nielsen, A.3
-
66
-
-
0022599645
-
Long-term follow-up of von Recklinghausen neurofibromatosis: Survival and malignant neoplasms
-
Sørensen SA, Mulvihill JJ, Nielsen A. 1986b. Long-term follow-up of von Recklinghausen neurofibromatosis: survival and malignant neoplasms. N Engl J Med 314:1010-1015.
-
(1986)
N Engl J Med
, vol.314
, pp. 1010-1015
-
-
Sørensen, S.A.1
Mulvihill, J.J.2
Nielsen, A.3
-
67
-
-
0020616564
-
Linkage analysis of neurofibromatosis (von Recklinghausen disease)
-
Spence MA, Bader JL, Parry DM, Field LL, Funderburk SJ, Rubenstein AE, Gilman PA, Sparkes RS. 1983. Linkage analysis of neurofibromatosis (von Recklinghausen disease). J Med Genet 20:334-337.
-
(1983)
J Med Genet
, vol.20
, pp. 334-337
-
-
Spence, M.A.1
Bader, J.L.2
Parry, D.M.3
Field, L.L.4
Funderburk, S.J.5
Rubenstein, A.E.6
Gilman, P.A.7
Sparkes, R.S.8
-
68
-
-
0026050385
-
Neurofibromatose typ 1 : Genetische untersuchungen mit DNA-Markern bei 38 familien
-
Spiegel R, Mächler M, Stocker HP, Boltshauser E, Schmid W. 1991. Neurofibromatose Typ 1 : genetische Untersuchungen mit DNA-Markern bei 38 Familien. Schweiz Med Wschr 121:1445-1452.
-
(1991)
Schweiz Med Wschr
, vol.121
, pp. 1445-1452
-
-
Spiegel, R.1
Mächler, M.2
Stocker, H.P.3
Boltshauser, E.4
Schmid, W.5
-
69
-
-
0026570008
-
Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes
-
Stephens K, Kayes L, Riccardi VM, Rising M, Sybert VP, Pagon RA. 1992. Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes. Hum Genet 88:279-282.
-
(1992)
Hum Genet
, vol.88
, pp. 279-282
-
-
Stephens, K.1
Kayes, L.2
Riccardi, V.M.3
Rising, M.4
Sybert, V.P.5
Pagon, R.A.6
-
70
-
-
26144446489
-
Height and head circumference in patients with neurofibromatosis type 1 (NF1)
-
Szudek J, Birch P, Friedman JM, the National Neurofibromatosis Foundation International Database Participants. 1998. Height and head circumference in patients with neurofibromatosis type 1 (NF1). Am J Hum Genet 63:A122.
-
(1998)
Am J Hum Genet
, vol.63
-
-
Szudek, J.1
Birch, P.2
Friedman, J.M.3
-
71
-
-
4244157668
-
Associations of clinical features in children with neurofibromatosis type 1 (NF1)
-
Szudek J, Riccardi VM, Friedman JM. 1997. Associations of clinical features in children with neurofibromatosis type 1 (NF1). Am J Hum Genet 61:A115.
-
(1997)
Am J Hum Genet
, vol.61
-
-
Szudek, J.1
Riccardi, V.M.2
Friedman, J.M.3
-
72
-
-
0026636504
-
Genetics of neurofibromatosis 1 in Japan: Mutation rate and paternal age effect
-
Takano T, Kawashima T, Yamanouchi Y, Kitayama K, Baba T, Ueno K, Hamaguchi H. 1992. Genetics of neurofibromatosis 1 in Japan: mutation rate and paternal age effect. Hum Genet 89:281-286.
-
(1992)
Hum Genet
, vol.89
, pp. 281-286
-
-
Takano, T.1
Kawashima, T.2
Yamanouchi, Y.3
Kitayama, K.4
Baba, T.5
Ueno, K.6
Hamaguchi, H.7
-
73
-
-
0031744843
-
Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay
-
Upadhyaya M, Ruggieri M, Maynard J, Osborn M, Hartog C, Mudd S, Penttinen M, Cordeiro I, Ponder M, Ponder BAJ, Krawczak M, Cooper DN. 1998. Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Hum Genet 102:591-597.
-
(1998)
Hum Genet
, vol.102
, pp. 591-597
-
-
Upadhyaya, M.1
Ruggieri, M.2
Maynard, J.3
Osborn, M.4
Hartog, C.5
Mudd, S.6
Penttinen, M.7
Cordeiro, I.8
Ponder, M.9
Ponder, B.A.J.10
Krawczak, M.11
Cooper, D.N.12
-
74
-
-
0028120348
-
Molecular basis of neurofibromatosis type 1 (NF1): Mutation analysis and polymorphisms in the NF1 gene
-
Upadhyaya M, Shaw DJ, Harper PS. 1994. Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene. Hum Mutat 4:83-101.
-
(1994)
Hum Mutat
, vol.4
, pp. 83-101
-
-
Upadhyaya, M.1
Shaw, D.J.2
Harper, P.S.3
-
75
-
-
0030969205
-
Identification of de novo deletions at the NF1 gene: No preferential paternal origin and phenotypic analysis of patients
-
Valero MC, Pascual-Castroviejo I, Velasco E, Moreno F, Hernádez-Chico C. 1997. Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients. Hum Genet 99:720-726.
-
(1997)
Hum Genet
, vol.99
, pp. 720-726
-
-
Valero, M.C.1
Pascual-Castroviejo, I.2
Velasco, E.3
Moreno, F.4
Hernádez-Chico, C.5
-
76
-
-
0024502528
-
Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type 1
-
Vance JM, Pericak-Vance MA, Yamaoka LH, Speer MC, Rosenwasser GOD, Small K. Gaskell PC, Hung W-Y, Alberts MJ. Haynes CS, Gilbert JR, Aylsworth AS. Roses AD. 1989. Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type 1. Am J Hum Genet 44:25-29.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 25-29
-
-
Vance, J.M.1
Pericak-Vance, M.A.2
Yamaoka, L.H.3
Speer, M.C.4
Rosenwasser, G.O.D.5
Small, K.6
Gaskell, P.C.7
Hung, W.-Y.8
Alberts, M.J.9
Haynes, C.S.10
Gilbert, J.R.11
Aylsworth, A.S.12
Roses, A.D.13
-
77
-
-
0025287960
-
Diagnosis of neurofibromatosis I by using tightly-linked flanking DNA markers
-
Ward K, O'Connell PO, Carey JC, Leppert M, Jolley S, Plaetke R, Ogden B, White R. 1990. Diagnosis of neurofibromatosis I by using tightly-linked flanking DNA markers. Am J Hum Genet 46:943-949.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 943-949
-
-
Ward, K.1
O'Connell, P.O.2
Carey, J.C.3
Leppert, M.4
Jolley, S.5
Plaetke, R.6
Ogden, B.7
White, R.8
-
78
-
-
0030782363
-
De novo rearrangements found in 2% of index patients with spinal muscular atrophy: Mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling
-
Wirth B, Schmidt T, Hahnen E, Rudnik-Schöneborn S, Krawczak M, Müller-Myhsok B, Schönling J, Zerres K. 1997. De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am J Hum Genet 61:1102-1111.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1102-1111
-
-
Wirth, B.1
Schmidt, T.2
Hahnen, E.3
Rudnik-Schöneborn, S.4
Krawczak, M.5
Müller-Myhsok, B.6
Schönling, J.7
Zerres, K.8
-
79
-
-
0029855567
-
Usefulness of screening investigations in neurofibromatosis type 1 : A study of 152 patients
-
Wolkenstein P, Frèche B, Zeller J, Revuz J. 1996. Usefulness of screening investigations in neurofibromatosis type 1 : a study of 152 patients. Arch Dermatol 132:1333-1336.
-
(1996)
Arch Dermatol
, vol.132
, pp. 1333-1336
-
-
Wolkenstein, P.1
Frèche, B.2
Zeller, J.3
Revuz, J.4
-
80
-
-
0028658412
-
Clinical manifestations of neurofibromatosis-1 in Chinese children
-
Wong V C-N. 1994. Clinical manifestations of neurofibromatosis-1 in Chinese children. Pediatr Neurol 11:301-307.
-
(1994)
Pediatr Neurol
, vol.11
, pp. 301-307
-
-
Wong, V.C.-N.1
-
81
-
-
0028902601
-
Life expectancy, mortality and prognostic factors in neurofibromatosis type 1: A twelve-year follow-up of an epidemiological study in Göteborg, Sweden
-
Zöller M, Rembeck B, Åkesson HO, Angervall L. 1995. Life expectancy, mortality and prognostic factors in neurofibromatosis type 1: a twelve-year follow-up of an epidemiological study in Göteborg, Sweden. Acta Derm Venereol (Stockh) 75:136-140.
-
(1995)
Acta Derm Venereol (Stockh)
, vol.75
, pp. 136-140
-
-
Zöller, M.1
Rembeck, B.2
Åkesson, H.O.3
Angervall, L.4
-
82
-
-
0030960182
-
Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population
-
Zöller M, Rembeck B, Odén A, Samuelsson M. Agervall L. 1997. Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population. Cancer 79:2125-2131.
-
(1997)
Cancer
, vol.79
, pp. 2125-2131
-
-
Zöller, M.1
Rembeck, B.2
Odén, A.3
Samuelsson, M.4
Agervall, L.5
|