-
1
-
-
84870227493
-
The neurofibromatoses: Classification, clinical features and genetic counselling
-
Kaufmann D (ed), 1st edn. S Karger AG, Switzerland
-
Huson S (2008) The neurofibromatoses: classification, clinical features and genetic counselling. In: Kaufmann D (ed) Neurofibromatoses (monographs in human genetics) vol 16, 1st edn. S Karger AG, Switzerland, pp 1-20
-
(2008)
Neurofibromatoses (Monographs in Human Genetics)
, vol.16
, pp. 1-20
-
-
Huson, S.1
-
2
-
-
65449184541
-
Neurofibromatosis type 1: Its association with the Ras/MAPK pathway syndromes
-
Bennett E, Thomas N, Upadhyaya M (2009) Neurofibromatosis type 1: its association with the Ras/MAPK pathway syndromes. J Pediatr Neurol 7(2):105-115
-
(2009)
J Pediatr Neurol
, vol.7
, Issue.2
, pp. 105-115
-
-
Bennett, E.1
Thomas, N.2
Upadhyaya, M.3
-
3
-
-
33847316896
-
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
-
Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A (2007) Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 44:81-88
-
(2007)
J Med Genet
, vol.44
, pp. 81-88
-
-
Ferner, R.E.1
Huson, S.M.2
Thomas, N.3
Moss, C.4
Willshaw, H.5
Evans, D.G.6
Upadhyaya, M.7
Towers, R.8
Gleeson, M.9
Steiger, C.10
Kirby, A.11
-
4
-
-
84870201398
-
NF1 gene structure and NF1 genotype/phenotype correlations
-
Kaufmann D 2008
-
Upadhyaya M (2008) NF1 gene structure and NF1 genotype/ phenotype correlations. In: Kaufmann D 2008. Neurofibromatoses (Monographs in Human Genetics) 16:46-62
-
(2008)
Neurofibromatoses (Monographs in Human Genetics)
, vol.16
, pp. 46-62
-
-
Upadhyaya, M.1
-
5
-
-
0035936783
-
NF1 tumor suppressor gene function: Narrowing the GAP
-
Cichowski K, Jacks T (2001) NF1 tumor suppressor gene function: narrowing the GAP. Cell 104:593-604
-
(2001)
Cell
, vol.104
, pp. 593-604
-
-
Cichowski, K.1
Jacks, T.2
-
6
-
-
1842610572
-
Recent advances in neurofibromatosis type 1
-
Arun D, Gutmann DH (2004) Recent advances in neurofibromatosis type 1. Curr Opin Neurol 17:101-105
-
(2004)
Curr Opin Neurol
, vol.17
, pp. 101-105
-
-
Arun, D.1
Gutmann, D.H.2
-
7
-
-
30144442616
-
Molecular, genetic, and cellular pathogenesis of neurofibromas and surgical implications
-
Gottfried ON, Viskochil DH, Fults DW, Couldwell WT (2006) Molecular, genetic, and cellular pathogenesis of neurofibromas and surgical implications. Neurosurgery 58(1):1-16
-
(2006)
Neurosurgery
, vol.58
, Issue.1
, pp. 1-16
-
-
Gottfried, O.N.1
Viskochil, D.H.2
Fults, D.W.3
Couldwell, W.T.4
-
8
-
-
56749139735
-
How does the Schwann cell lineage form tumors in NF1?
-
Carroll SL, Ratner N (2008) How does the Schwann cell lineage form tumors in NF1? Glia 1;56(14):1590-1605
-
(2008)
Glia 1
, vol.56
, Issue.14
, pp. 1590-1605
-
-
Carroll, S.L.1
Ratner, N.2
-
9
-
-
50649111364
-
Constitutional mismatch repairdeficiency syndrome: Have we so far seen only the tip of an iceberg?
-
Wimmer K, Etzler J (2008) Constitutional mismatch repairdeficiency syndrome: have we so far seen only the tip of an iceberg? Hum Genet 24:105-122
-
(2008)
Hum Genet
, vol.24
, pp. 105-122
-
-
Wimmer, K.1
Etzler, J.2
-
10
-
-
0037315934
-
Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type
-
Wang Q, Montmain G, Ruano E, Upadhyaya M, Dudley S, Liskay RM, Thibodeau SN, Puisieux A (2003) Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type. Hum Genet 112(2):117-123
-
(2003)
Hum Genet
, vol.112
, Issue.2
, pp. 117-123
-
-
Wang, Q.1
Montmain, G.2
Ruano, E.3
Upadhyaya, M.4
Dudley, S.5
Liskay, R.M.6
Thibodeau, S.N.7
Puisieux, A.8
-
11
-
-
35449000544
-
Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumors and malignant tumor types
-
Spurlock G, Griffiths S, Uff J, Upadhyaya M et al (2007) Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumors and malignant tumor types. Familial Cancer 6:463-471
-
(2007)
Familial Cancer
, vol.6
, pp. 463-471
-
-
Spurlock, G.1
Griffiths, S.2
Uff, J.3
Upadhyaya, M.4
-
12
-
-
34547130288
-
Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients
-
Serra E, Pros E, García C, López E, Lluïsa Gili M, Gómez C, Ravella A, Capellá G, Blanco I, Lázaro C (2007) Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients. Genes, Chromosomes Cancer 46:820-827
-
(2007)
Genes, Chromosomes Cancer
, vol.46
, pp. 820-827
-
-
Serra, E.1
Pros, E.2
García, C.3
López, E.4
Lluïsa Gili, M.5
Gómez, C.6
Ravella, A.7
Capellá, G.8
Blanco, I.9
Lázaro, C.10
-
13
-
-
33748480671
-
Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients
-
De Raedt T, Maertens O, Chmara M, Brems H, Heyns I, Sciot R, Majounie E, Upadhyaya M, De Schepper S, Speleman F, Messiaen L, Vermeesch JR, Legius E (2006) Somatic loss of wild type NF1 allele in neurofibromas: comparison of NF1 microdeletion and non-microdeletion patients. Genes, Chromosomes Cancer 45:893-904
-
(2006)
Genes, Chromosomes Cancer
, vol.45
, pp. 893-904
-
-
De Raedt, T.1
Maertens, O.2
Chmara, M.3
Brems, H.4
Heyns, I.5
Sciot, R.6
Majounie, E.7
Upadhyaya, M.8
De Schepper, S.9
Speleman, F.10
Messiaen, L.11
Vermeesch, J.R.12
Legius, E.13
-
14
-
-
0028825841
-
Alterations of microsatellites in neurofibromas of von Recklinghausen's disease
-
Ottini L, Esposito DL, Richetta A, Carlesimo M, Palmirotta R, Verí MC, Battista P, Frati L, Caramia FG, Calvieri S et al (1995) Alterations of microsatellites in neurofibromas of von Recklinghausen's disease. Cancer Res 1;55(23):5677-5680
-
(1995)
Cancer Res 1
, vol.55
, Issue.23
, pp. 5677-5680
-
-
Ottini, L.1
Esposito, D.L.2
Richetta, A.3
Carlesimo, M.4
Palmirotta, R.5
Verí, M.C.6
Battista, P.7
Frati, L.8
Caramia, F.G.9
Calvieri, S.10
-
15
-
-
0030850675
-
Confirmation of a double-hit model for the NF1 gene in benign neurofibromas
-
Serra E, Puig S, Otero D, Gaona A, Kruyer H, Ars E, Estivill X, Lázaro C (1997) Confirmation of a double-hit model for the NF1 gene in benign neurofibromas. Am J Hum Genet 61 (3):512-519
-
(1997)
Am J Hum Genet
, vol.61
, Issue.3
, pp. 512-519
-
-
Serra, E.1
Puig, S.2
Otero, D.3
Gaona, A.4
Kruyer, H.5
Ars, E.6
Estivill, X.7
Lázaro, C.8
-
16
-
-
48549088063
-
Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors
-
Feitsma H, Kuiper RV, Korving J, Nijman IJ, Cuppen E (2008) Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors. Cancer Res 1;68(13):5059-5066
-
(2008)
Cancer Res 1
, vol.68
, Issue.13
, pp. 5059-5066
-
-
Feitsma, H.1
Kuiper, R.V.2
Korving, J.3
Nijman, I.J.4
Cuppen, E.5
-
17
-
-
9444271133
-
Spontaneous intestinal carcinomas and skin neoplasms in Msh2- deficient mice
-
Reitmair AH, Redston M, Cai JC, Chuang TC, Bjerknes M, Cheng H, Hay K, Gallinger S, Bapat B, Mak TW (1996) Spontaneous intestinal carcinomas and skin neoplasms in Msh2- deficient mice. Cancer Res 56:3842-3849
-
(1996)
Cancer Res
, vol.56
, pp. 3842-3849
-
-
Reitmair, A.H.1
Redston, M.2
Cai, J.C.3
Chuang, T.C.4
Bjerknes, M.5
Cheng, H.6
Hay, K.7
Gallinger, S.8
Bapat, B.9
Mak, T.W.10
-
18
-
-
25444462730
-
Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse
-
Chen P, Dudley S, Hagen W, Dizon D, Paxton L, Reichow D, Yoon S, Yang K, Arnheim N, Liskay RM, Lipkin SM (2005) Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse. Cancer Res 1;65(19):8662-8670
-
(2005)
Cancer Res 1
, vol.65
, Issue.19
, pp. 8662-8670
-
-
Chen, P.1
Dudley, S.2
Hagen, W.3
Dizon, D.4
Paxton, L.5
Reichow, D.6
Yoon, S.7
Yang, K.8
Arnheim, N.9
Liskay, R.M.10
Lipkin, S.M.11
-
19
-
-
0032763415
-
Deletions of the INK4A gene occur in malignant peripheral nerve sheath tumors but not in neurofibromas
-
Kourea HP, Orlow I, Scheithauer BW, Cordon-Cardo C, Woodruff JM (1999) Deletions of the INK4A gene occur in malignant peripheral nerve sheath tumors but not in neurofibromas. Am J Pathol 155:1855-1860
-
(1999)
Am J Pathol
, vol.155
, pp. 1855-1860
-
-
Kourea, H.P.1
Orlow, I.2
Scheithauer, B.W.3
Cordon-Cardo, C.4
Woodruff, J.M.5
-
20
-
-
0032762784
-
Malignant transformation of neurofibromas in neurofibromatosis 1 is associated with CDKN2A/ p16 inactivation
-
Nielsen GP, Stemmer-Rachamimov AO, Ino Y, Moller MB, Rosenberg AE, Louis DN (1999) Malignant transformation of neurofibromas in neurofibromatosis 1 is associated with CDKN2A/ p16 inactivation. Am J Pathol 155:1879-1884
-
(1999)
Am J Pathol
, vol.155
, pp. 1879-1884
-
-
Nielsen, G.P.1
Stemmer-Rachamimov, A.O.2
Ino, Y.3
Moller, M.B.4
Rosenberg, A.E.5
Louis, D.N.6
-
21
-
-
0036320356
-
Immunohistochemical and molecular analysis of p53, RB, and PTEN in malignant peripheral nerve sheath tumors
-
Mawrin C, Kirches E, Boltze C, Dietzmann K, Roessner A, Schneider-Stock R (2002) Immunohistochemical and molecular analysis of p53, RB, and PTEN in malignant peripheral nerve sheath tumors. Virchows Arch 440:610-615
-
(2002)
Virchows Arch
, vol.440
, pp. 610-615
-
-
Mawrin, C.1
Kirches, E.2
Boltze, C.3
Dietzmann, K.4
Roessner, A.5
Schneider-Stock, R.6
-
22
-
-
39749203515
-
High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization
-
Mantripragada KK, Spurlock G, Kluwe L, Chuzhanova N, Ferner RE, Frayling IM, Dumanski JP, Guha A, Mautner V, Upadhyaya M (2008) High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization. Clin Cancer Res 14:1015-1024
-
(2008)
Clin Cancer Res
, vol.14
, pp. 1015-1024
-
-
Mantripragada, K.K.1
Spurlock, G.2
Kluwe, L.3
Chuzhanova, N.4
Ferner, R.E.5
Frayling, I.M.6
Dumanski, J.P.7
Guha, A.8
Mautner, V.9
Upadhyaya, M.10
-
23
-
-
65349136693
-
Germline and somatic NF1 gene mutations in plexiform neurofibromas
-
Upadhyaya M, Spurlock G, Monem B, Thomas N, Friedrich RE, Kluwe L, Mautner V (2008) Germline and somatic NF1 gene mutations in plexiform neurofibromas. Human Mutation, Mutation in Brief 29:E112-E122
-
(2008)
Human Mutation, Mutation in Brief
, vol.29
-
-
Upadhyaya, M.1
Spurlock, G.2
Monem, B.3
Thomas, N.4
Friedrich, R.E.5
Kluwe, L.6
Mautner, V.7
-
24
-
-
44449110635
-
Congenital disseminated neurofibromatosis type 1: A clinical and molecular case report. 2008
-
Stewart H, Bowker C, Edees S, Smalley S, Crocker M, Mechan D, Forrester N, Spurlock G, Upadhyaya M (2008) Congenital disseminated neurofibromatosis type 1: a clinical and molecular case report. 2008. Am J Med Genet 146A(11):1444-1452
-
(2008)
Am J Med Genet
, vol.146 A
, Issue.11
, pp. 1444-1452
-
-
Stewart, H.1
Bowker, C.2
Edees, S.3
Smalley, S.4
Crocker, M.5
Mechan, D.6
Forrester, N.7
Spurlock, G.8
Upadhyaya, M.9
-
25
-
-
0032763861
-
Mouse models of tumor development in neurofibromatosis type 1
-
Cichowski K, Shih TS, Schmitt E, Santiago S, Reilly K, McLaughlin ME, Bronson RT, Jacks T (1999) Mouse models of tumor development in neurofibromatosis type 1. Science 286:2172-2176 (Pubitemid 129516295)
-
(1999)
Science
, vol.286
, Issue.5447
, pp. 2172-2176
-
-
Cichowski, K.1
Shih, T.S.2
Schmitt, E.3
Santiago, S.4
Reilly, K.5
McLaughlin, M.E.6
Bronson, R.T.7
Jacks, T.8
-
26
-
-
0032786494
-
Mouse tumor model for neurofibromatosis type 1
-
Vogel KS, Klesse LJ, Velasco-Miguel S, Meyers K, Rushing EJ, Parada LF (1999) Mouse tumor model for neurofibromatosis type 1. Science 286:2176-2179
-
(1999)
Science
, vol.286
, pp. 2176-2179
-
-
Vogel, K.S.1
Klesse, L.J.2
Velasco-Miguel, S.3
Meyers, K.4
Rushing, E.J.5
Parada, L.F.6
-
27
-
-
0034738419
-
Minireview neurofibromatosis type 1
-
Parada LF (2000) Minireview neurofibromatosis type 1. Biochim Biophys Acta 1471:M13-M19
-
(2000)
Biochim Biophys Acta
, vol.1471
-
-
Parada, L.F.1
-
28
-
-
65349141187
-
Cell of origin and microenvironment contribution for NF1-associated dermal neurofibromas
-
Le LQ, Shipman T, Burns DK, Parada LF (2009) Cell of origin and microenvironment contribution for NF1-associated dermal neurofibromas. Cell Stem Cell 8;4(5):453-463
-
(2009)
Cell Stem Cell 8
, vol.4
, Issue.5
, pp. 453-463
-
-
Le, L.Q.1
Shipman, T.2
Burns, D.K.3
Parada, L.F.4
-
29
-
-
68549087163
-
Neurofibroma development in NF1- insights into tumor initiation
-
Parrinello S, Lloyd AC (2009) Neurofibroma development in NF1- insights into tumor initiation. Trends Cell Biol 9(8):395-403
-
(2009)
Trends Cell Biol
, vol.9
, Issue.8
, pp. 395-403
-
-
Parrinello, S.1
Lloyd, A.C.2
-
30
-
-
10744220011
-
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors
-
Upadhyaya M, Han S, Consoli C, Majounie E, Horan M, Thomas NS, Potts C, Griffiths S, Ruggieri M, von Deimling A, Cooper DN (2004) Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors. Hum Mutation 23 (2):134-146
-
(2004)
Hum Mutation
, vol.23
, Issue.2
, pp. 134-146
-
-
Upadhyaya, M.1
Han, S.2
Consoli, C.3
Majounie, E.4
Horan, M.5
Thomas, N.S.6
Potts, C.7
Griffiths, S.8
Ruggieri, M.9
Von Deimling, A.10
Cooper, D.N.11
-
31
-
-
0033119981
-
Molecular screening of potential HNPCC patients using a multiplex microsatellite PCR system
-
Sutter C, Gebert J, Bischoff P, Herfarth C, von Knebel Doeberitz M (1999) Molecular screening of potential HNPCC patients using a multiplex microsatellite PCR system. Mol Cell Probes 13:157-165
-
(1999)
Mol Cell Probes
, vol.13
, pp. 157-165
-
-
Sutter, C.1
Gebert, J.2
Bischoff, P.3
Herfarth, C.4
Von Knebel Doeberitz, M.5
-
32
-
-
59449105394
-
New applications and developments in the use of multiplex ligation-dependent probe amplification
-
Kozlowski P, Jasinska AJ, Kwiatkowski DJ (2008) New applications and developments in the use of multiplex ligation-dependent probe amplification. Electrophoresis 29(23):4627-4636
-
(2008)
Electrophoresis
, vol.29
, Issue.23
, pp. 4627-4636
-
-
Kozlowski, P.1
Jasinska, A.J.2
Kwiatkowski, D.J.3
-
33
-
-
0028146806
-
TP53 mutations are frequent in malignant NF1 tumors
-
Legius E, Herman D, Wu R, Hall BK, Marynen P, Cassiman J (1994) TP53 mutations are frequent in malignant NF1 tumors. Genes Chromosomes Cancer 10:250-255
-
(1994)
Genes Chromosomes Cancer
, vol.10
, pp. 250-255
-
-
Legius, E.1
Herman, D.2
Wu, R.3
Hall, B.K.4
Marynen, P.5
Cassiman, J.6
-
35
-
-
7144250518
-
Role of a p53 polymorphism in the development of human papillomavirus-associated cancer
-
Storey A, Thomas M, Kalita A, Harwood C, Gardiol D, Mantovani F, Breuer J, Leigh IM, Matlashewski G, Banks L (1998) Role of a p53 polymorphism in the development of human papillomavirus-associated cancer. Nature 21;393(6682):229-234
-
(1998)
Nature 21
, vol.393
, Issue.6682
, pp. 229-234
-
-
Storey, A.1
Thomas, M.2
Kalita, A.3
Harwood, C.4
Gardiol, D.5
Mantovani, F.6
Breuer, J.7
Leigh, I.M.8
Matlashewski, G.9
Banks, L.10
-
36
-
-
0025815972
-
The MspI polymorphism in intron 6 of p53 (TP53) detected by digestion of PCR products
-
McDaniel T, Carbone D, Takahashi T, Chumakov P, Chang EH, Pirollo KF, Yin J, Huang Y, Meltzer SJ (1991) The MspI polymorphism in intron 6 of p53 (TP53) detected by digestion of PCR products. Nucleic Acids Res 11;19(17):4796
-
(1991)
Nucleic Acids Res 11
, vol.19
, Issue.17
, pp. 4796
-
-
McDaniel, T.1
Carbone, D.2
Takahashi, T.3
Chumakov, P.4
Chang, E.H.5
Pirollo, K.F.6
Yin, J.7
Huang, Y.8
Meltzer, S.J.9
-
37
-
-
0029789170
-
Loss of heterozygosity and microsatellite instability at the retinoblastoma locus in osteosarcomas
-
Belchis DA, Meece CA, Benko FA, Rogan PK, Williams RA, Gocke CD (1996) Loss of heterozygosity and microsatellite instability at the retinoblastoma locus in osteosarcomas. Diagn Mol Pathol 5(3):214-219
-
(1996)
Diagn Mol Pathol
, vol.5
, Issue.3
, pp. 214-219
-
-
Belchis, D.A.1
Meece, C.A.2
Benko, F.A.3
Rogan, P.K.4
Williams, R.A.5
Gocke, C.D.6
-
38
-
-
0024422006
-
Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing
-
Yandell DW, Dryja TP (1989) Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing. Am J Hum Genet 45(4):547-555
-
(1989)
Am J Hum Genet
, vol.45
, Issue.4
, pp. 547-555
-
-
Yandell, D.W.1
Dryja, T.P.2
-
39
-
-
0343618659
-
Clonality and genetic divergence in multifocal low-grade superficial urothelial carcinoma as determined by chromosome 9 and p53 deletion analysis
-
Hartmann A, Rosner U, Schlake G, Dietmaier W, Zaak D, Hofstaedter F et al (2000) Clonality and genetic divergence in multifocal low-grade superficial urothelial carcinoma as determined by chromosome 9 and p53 deletion analysis. Lab Invest 80 (709):2000
-
(2000)
Lab Invest
, vol.80
, Issue.709
, pp. 2000
-
-
Hartmann, A.1
Rosner, U.2
Schlake, G.3
Dietmaier, W.4
Zaak, D.5
Hofstaedter, F.6
-
40
-
-
0029091503
-
Frequency of homozygous deletion at p16/ CDKN2 in primary human tumors
-
Cairns P, Polascik TJ, Eby Y, Tokino K, Califano J, Merlo A, Mao L, Herath J, Jenkins R, Westra W et al (1995) Frequency of homozygous deletion at p16/ CDKN2 in primary human tumors. Nature (Genet) 11:210-212
-
(1995)
Nature (Genet)
, vol.11
, pp. 210-212
-
-
Cairns, P.1
Polascik, T.J.2
Eby, Y.3
Tokino, K.4
Califano, J.5
Merlo, A.6
Mao, L.7
Herath, J.8
Jenkins, R.9
Westra, W.10
-
41
-
-
0035119327
-
Evidence for three tumor suppressor loci on chromosome 9p involved in melanoma development
-
Pollock PM, Welch J, Hayward NK (2001) Evidence for three tumor suppressor loci on chromosome 9p involved in melanoma development. Cancer Res 1;61(3):1154-1161
-
(2001)
Cancer Res 1
, vol.61
, Issue.3
, pp. 1154-1161
-
-
Pollock, P.M.1
Welch, J.2
Hayward, N.K.3
-
43
-
-
0037228574
-
Meta-analysis of indels causing human genetic disease: Mechanisms of mutagenesis and the role of local DNA sequence complexity
-
Chuzhanova NA, Anassis EJ, Ball E, Krawczak M, Cooper DN (2003) Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat 21:28-44
-
(2003)
Hum Mutat
, vol.21
, pp. 28-44
-
-
Chuzhanova, N.A.1
Anassis, E.J.2
Ball, E.3
Krawczak, M.4
Cooper, D.N.5
-
44
-
-
24344505990
-
Micro-deletions and micro-insertions causing human genetic disease: Common mechanisms of mutagenesis and the role of local DNA sequence complexity
-
Ball EV, Stenson PD, Krawczak M, Cooper DN, Chuzhanova NA (2005) Micro-deletions and micro-insertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mut 26:205-213
-
(2005)
Hum Mut
, vol.26
, pp. 205-213
-
-
Ball, E.V.1
Stenson, P.D.2
Krawczak, M.3
Cooper, D.N.4
Chuzhanova, N.A.5
-
45
-
-
0043264447
-
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs
-
Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN (2003) Translocation and gross deletion breakpoints in human inherited disease and cancer I: nucleotide composition and recombination-associated motifs. Hum Mut 22:229-244
-
(2003)
Hum Mut
, vol.22
, pp. 229-244
-
-
Abeysinghe, S.S.1
Chuzhanova, N.2
Krawczak, M.3
Ball, E.V.4
Cooper, D.N.5
-
46
-
-
4644327494
-
Breakpoints of gross deletions coincide with non-B DNA conformations
-
Bacolla A, Jaworski A, Larson JE, Jakupciak JP, Chuzhanova N, Abeysinghe SS, O'Connell CD, Cooper DN, Wells RD (2004) Breakpoints of gross deletions coincide with non-B DNA conformations. Proc Natl Acad Sci U S A 101:14162-14167
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 14162-14167
-
-
Bacolla, A.1
Jaworski, A.2
Larson, J.E.3
Jakupciak, J.P.4
Chuzhanova, N.5
Abeysinghe, S.S.6
O'Connell, C.D.7
Cooper, D.N.8
Wells, R.D.9
-
47
-
-
1042265186
-
Context of deletions and insertions in human coding sequences
-
Kondrashov AS, Rogozin IB (2004) Context of deletions and insertions in human coding sequences. Hum Mutat 23:177-185
-
(2004)
Hum Mutat
, vol.23
, pp. 177-185
-
-
Kondrashov, A.S.1
Rogozin, I.B.2
-
48
-
-
33749009578
-
Comprehensive NF1 screening on cultured Schwann cells from neurofibromas
-
Maertens O, Brems H, Vandesompele J, De Raedt T, Heyns I, Rosenbaum T, De Schepper S, De Paepe A, Mortier G, Janssens S, Speleman F, Legius E, Messiaen L (2006) Comprehensive NF1 screening on cultured Schwann cells from neurofibromas. Hum Mutat 27(10):1030-1040
-
(2006)
Hum Mutat
, vol.27
, Issue.10
, pp. 1030-1040
-
-
Maertens, O.1
Brems, H.2
Vandesompele, J.3
De Raedt, T.4
Heyns, I.5
Rosenbaum, T.6
De Schepper, S.7
De Paepe, A.8
Mortier, G.9
Janssens, S.10
Speleman, F.11
Legius, E.12
Messiaen, L.13
-
49
-
-
80055119523
-
Laser capture microdissection of mammalian tissue
-
Edwards RA (2007) Laser capture microdissection of mammalian tissue. J Vis Exp 8:309
-
(2007)
J Vis Exp
, vol.8
, pp. 309
-
-
Edwards, R.A.1
-
50
-
-
0033879512
-
Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumors
-
Horan MP, Cooper DN, Upadhyaya M (2000) Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumors. Hum Genet 107(1):33-39
-
(2000)
Hum Genet
, vol.107
, Issue.1
, pp. 33-39
-
-
Horan, M.P.1
Cooper, D.N.2
Upadhyaya, M.3
-
51
-
-
0034515334
-
Microsatellite instability and promoter methylation as possible causes of NF1 gene inactivation in neurofibromas
-
Luijten M, Redeker S, van Noesel MM, Troost D, Westerveld A, Hulsebos TJ (2000) Microsatellite instability and promoter methylation as possible causes of NF1 gene inactivation in neurofibromas. Eur J Hum Genet 8(12):939-945
-
(2000)
Eur J Hum Genet
, vol.8
, Issue.12
, pp. 939-945
-
-
Luijten, M.1
Redeker, S.2
Van Noesel, M.M.3
Troost, D.4
Westerveld, A.5
Hulsebos, T.J.6
-
52
-
-
13844296571
-
Analysis of somatic NF1 promoter methylation in plexiform neurofibromas and Schwann cells
-
Fishbein L, Eady B, Sanek N, Muir D, Wallace MR (2005) Analysis of somatic NF1 promoter methylation in plexiform neurofibromas and Schwann cells. Cancer Genet Cytogenet 157 (2):181-186
-
(2005)
Cancer Genet Cytogenet
, vol.157
, Issue.2
, pp. 181-186
-
-
Fishbein, L.1
Eady, B.2
Sanek, N.3
Muir, D.4
Wallace, M.R.5
-
53
-
-
0031578233
-
Clonal origin of tumor cells in a plexiform neurofibroma with LOH in NF1 intron 38 and in dermal neurofibromas without LOH of the NF1 gene
-
Däschner K, Assum G, Eisenbarth I, Krone W, Hoffmeyer S, Wortmann S, Heymer B, Kehrer-Sawatzki H (1997) Clonal origin of tumor cells in a plexiform neurofibroma with LOH in NF1 intron 38 and in dermal neurofibromas without LOH of the NF1 gene. Biochem Biophys Res Commun 19;234(2):346-350
-
(1997)
Biochem Biophys Res Commun 19
, vol.234
, Issue.2
, pp. 346-350
-
-
Däschner, K.1
Assum, G.2
Eisenbarth, I.3
Krone, W.4
Hoffmeyer, S.5
Wortmann, S.6
Heymer, B.7
Kehrer-Sawatzki, H.8
-
54
-
-
0034014385
-
A search for evidence of somatic mutations in the NF1 gene
-
John AM, Ruggieri M, Ferner R, Upadhyaya M (2000) A search for evidence of somatic mutations in the NF1 gene. J Med Genet 37(1):44-49
-
(2000)
J Med Genet
, vol.37
, Issue.1
, pp. 44-49
-
-
John, A.M.1
Ruggieri, M.2
Ferner, R.3
Upadhyaya, M.4
-
55
-
-
0034938366
-
Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas
-
Serra E, Rosenbaum T, Nadal M, Winner U, Ars E, Estivill X, Lázaro C (2001) Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas. Nat Genet 28 (3):294-296
-
(2001)
Nat Genet
, vol.28
, Issue.3
, pp. 294-296
-
-
Serra, E.1
Rosenbaum, T.2
Nadal, M.3
Winner, U.4
Ars, E.5
Estivill, X.6
Lázaro, C.7
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