-
1
-
-
0028968703
-
Comparative mapping of human alphoid sequences in great apes using fluorescence in situ hybridization
-
Archidiacono N, Antonacci R, Marzella R, Finelli P, Lonoce A, Rocchi M (1995) Comparative mapping of human alphoid sequences in great apes using fluorescence in situ hybridization. Genomics 25:477-484
-
(1995)
Genomics
, vol.25
, pp. 477-484
-
-
Archidiacono, N.1
Antonacci, R.2
Marzella, R.3
Finelli, P.4
Lonoce, A.5
Rocchi, M.6
-
2
-
-
0034897565
-
Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fiber
-
Bentivegna A, Venturin M, Gervasini C, Corrado L, Larizza L, Riva P (2001a) Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fiber. Hum Genet 109:48-54
-
(2001)
Hum Genet
, vol.109
, pp. 48-54
-
-
Bentivegna, A.1
Venturin, M.2
Gervasini, C.3
Corrado, L.4
Larizza, L.5
Riva, P.6
-
3
-
-
0035057414
-
FISH with locus-specific probes on stretched chromosomes: A useful tool for genome organization studies
-
Bentivegna A, Venturin M, Gervasini C, Corrado L, Larizza L, Riva P (2001b) FISH with locus-specific probes on stretched chromosomes: A useful tool for genome organization studies. Chromosom Res 9:167-170
-
(2001)
Chromosom Res
, vol.9
, pp. 167-170
-
-
Bentivegna, A.1
Venturin, M.2
Gervasini, C.3
Corrado, L.4
Larizza, L.5
Riva, P.6
-
4
-
-
0026683521
-
YAC mapping by FISH using Alu-PCR-generated probes
-
Breen M, Arveiler B, Murray I, Gosden JR, Porteous DJ (1992) YAC mapping by FISH using Alu-PCR-generated probes. Genomics 13:726-730
-
(1992)
Genomics
, vol.13
, pp. 726-730
-
-
Breen, M.1
Arveiler, B.2
Murray, I.3
Gosden, J.R.4
Porteous, D.J.5
-
5
-
-
0032971379
-
Large genomic duplicons map sites of instability in the Prader-Willi/Angelman syndrome chromosome region
-
Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH (1999) Large genomic duplicons map sites of instability in the Prader-Willi/Angelman syndrome chromosome region. Hum Mol Genet 8:1025-1037
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1025-1037
-
-
Christian, S.L.1
Fantes, J.A.2
Mewborn, S.K.3
Huang, B.4
Ledbetter, D.H.5
-
6
-
-
0034057657
-
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
-
Dorschner MO, Sybert VP, Weaver M, Pletcher BA, Stephens K (2000) NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum Mol Genet 9:35-46
-
(2000)
Hum Mol Genet
, vol.9
, pp. 35-46
-
-
Dorschner, M.O.1
Sybert, V.P.2
Weaver, M.3
Pletcher, B.A.4
Stephens, K.5
-
7
-
-
0033358588
-
Low copy repeats mediated the comon 3-Mb deletion in patients with velo-cardio-facial syndrome
-
Edelmann L, Pandita RK, Morrow BE (1999) Low copy repeats mediated the comon 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet 64:1076-1086
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1076-1086
-
-
Edelmann, L.1
Pandita, R.K.2
Morrow, B.E.3
-
8
-
-
0033924917
-
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of GAP-related domain
-
Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kucukceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, Nurnberg P (2000) Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of GAP-related domain. Am J Hum Genet 66:790-818
-
(2000)
Am J Hum Genet
, vol.66
, pp. 790-818
-
-
Fahsold, R.1
Hoffmeyer, S.2
Mischung, C.3
Gille, C.4
Ehlers, C.5
Kucukceylan, N.6
Abdel-Nour, M.7
Gewies, A.8
Peters, H.9
Kaufmann, D.10
Buske, A.11
Tinschert, S.12
Nurnberg, P.13
-
9
-
-
0028174765
-
Structural analysis of alpha-satellite DNA and centromere proteins using extended chromatin and chromosomes
-
Haaf T, Ward DC (1994) Structural analysis of alpha-satellite DNA and centromere proteins using extended chromatin and chromosomes. Hum Mol Genet 3:697-709
-
(1994)
Hum Mol Genet
, vol.3
, pp. 697-709
-
-
Haaf, T.1
Ward, D.C.2
-
10
-
-
0023623002
-
Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia
-
Harada F, Kimura A, Iwanaga T, Shimozawa K, Yata J, Sasazuki T (1987) Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia. Proc Natl Acad Sci USA 84:8091-8094
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 8091-8094
-
-
Harada, F.1
Kimura, A.2
Iwanaga, T.3
Shimozawa, K.4
Yata, J.5
Sasazuki, T.6
-
11
-
-
0002928373
-
Neurofibromatosis 1: A clinical and genetic overview
-
In: Huson SM, Huges RAC (eds); Chapman and Hall Medical, London
-
Huson SM, Huges RAC (1994) Neurofibromatosis 1: A clinical and genetic overview. In: Huson SM, Huges RAC (eds) The Neurobibromatoses: A pathogenetic and clinical overview. Chapman and Hall Medical, London, pp 160-203
-
(1994)
The Neurobibromatoses: A Pathogenetic and Clinical Overview
, pp. 160-203
-
-
Huson, S.M.1
Huges, R.A.C.2
-
12
-
-
0034892401
-
Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions
-
Jenne DE, Tinschert S, Reimann H, Lasinger W, Thiel G, Hameister H, Kehrer-Sawatzki H (2001) Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. Am J Hum Genet 69:516-527
-
(2001)
Am J Hum Genet
, vol.69
, pp. 516-527
-
-
Jenne, D.E.1
Tinschert, S.2
Reimann, H.3
Lasinger, W.4
Thiel, G.5
Hameister, H.6
Kehrer-Sawatzki, H.7
-
13
-
-
0032580152
-
A molecular timescale for vertebrate evolution
-
Kumar S, Hedges SB (1998) A molecular timescale for vertebrate evolution. Nature 392:917-920
-
(1998)
Nature
, vol.392
, pp. 917-920
-
-
Kumar, S.1
Hedges, S.B.2
-
14
-
-
0027434880
-
A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene
-
Lazaro C, Gaona A, Xu G, Weiss R, Estivill X (1993) A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene. Hum Genet 92:429-430
-
(1993)
Hum Genet
, vol.92
, pp. 429-430
-
-
Lazaro, C.1
Gaona, A.2
Xu, G.3
Weiss, R.4
Estivill, X.5
-
15
-
-
0028013195
-
Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene
-
Lazaro C, Gaona A, Estivill X (1994) Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene. Hum Genet 93:351-352
-
(1994)
Hum Genet
, vol.93
, pp. 351-352
-
-
Lazaro, C.1
Gaona, A.2
Estivill, X.3
-
16
-
-
0028928718
-
Genomic organization of the neurofibromatosis 1 gene (NF1)
-
Li Y, O'Connell P, Breidenbach HH, Cawthon R, Stevens J, Xu G, Neil S, Rotbertson M, White R, Viskochil D (1995) Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics 25:9-28
-
(1995)
Genomics
, vol.25
, pp. 9-28
-
-
Li, Y.1
O'Connell, P.2
Breidenbach, H.H.3
Cawthon, R.4
Stevens, J.5
Xu, G.6
Neil, S.7
Rotbertson, M.8
White, R.9
Viskochil, D.10
-
17
-
-
0000579784
-
Chromosome analysis by non-isotopic in situ hybridization
-
In: Rooney DE, Czepulkowski BH (eds); IRL, Oxford
-
Lichter P, Cremer T (1992) Chromosome analysis by non-isotopic in situ hybridization. In: Rooney DE, Czepulkowski BH (eds) Human Cytogenetics: A Practical Approach, vol 1. Constitutional Analysis. IRL, Oxford, pp 157-192
-
(1992)
Human Cytogenetics: A Practical Approach, Vol 1. Constitutional Analysis
, pp. 157-192
-
-
Lichter, P.1
Cremer, T.2
-
18
-
-
0035875064
-
Recombination hotspot in NF1 microdeletion patients
-
Lòpez-Correa C, Dorschner M, Brems H, Lazaro C, Clementi M, Upadhyaya M, Dooijes D, Moog U, Kehrer-Sawatzki H, Rutkowski JL, Fryns JP, Marynen P, Stephens K, Legius E (2001) Recombination hotspot in NF1 microdeletion patients. Hum Mol Genet 10:1387-1392
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1387-1392
-
-
Lòpez-Correa, C.1
Dorschner, M.2
Brems, H.3
Lazaro, C.4
Clementi, M.5
Upadhyaya, M.6
Dooijes, D.7
Moog, U.8
Kehrer-Sawatzki, H.9
Rutkowski, J.L.10
Fryns, J.P.11
Marynen, P.12
Stephens, K.13
Legius, E.14
-
19
-
-
0034938699
-
Limited contribution of interchromosomal gene conversion to NF1 gene mutation
-
Luijten M, Fahsold R, Mischung C, Westerveld A, Nurnberg P, Hulsebos TJ (2001a) Limited contribution of interchromosomal gene conversion to NF1 gene mutation. J Med Genet 38:481-484
-
(2001)
J Med Genet
, vol.38
, pp. 481-484
-
-
Luijten, M.1
Fahsold, R.2
Mischung, C.3
Westerveld, A.4
Nurnberg, P.5
Hulsebos, T.J.6
-
20
-
-
0034908611
-
Duplication and transposition of the NF1 pseudogene regions in chromosomes 2, 14, and 22
-
Luitjen M, Redeker S, Minoshima S, Shimizu N, Westestevled A, Hulsebos TJ (2001b) Duplication and transposition of the NF1 pseudogene regions in chromosomes 2, 14, and 22. Hum Genet 109:109-116
-
(2001)
Hum Genet
, vol.109
, pp. 109-116
-
-
Luitjen, M.1
Redeker, S.2
Minoshima, S.3
Shimizu, N.4
Westestevled, A.5
Hulsebos, T.J.6
-
21
-
-
0031731487
-
Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
-
Lupsky JR (1998) Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14:417-422
-
(1998)
Trends Genet
, vol.14
, pp. 417-422
-
-
Lupsky, J.R.1
-
22
-
-
0026319619
-
cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NF1 gene product
-
Marchuk DA, Saulino AM, Tavakkol R, Swaroop M, Wallace MR, Andersen LB, Mitchell AL, Gutmann DH, Boguski M, Collins FS (1991) cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NF1 gene product. Genomics 11:931-940
-
(1991)
Genomics
, vol.11
, pp. 931-940
-
-
Marchuk, D.A.1
Saulino, A.M.2
Tavakkol, R.3
Swaroop, M.4
Wallace, M.R.5
Andersen, L.B.6
Mitchell, A.L.7
Gutmann, D.H.8
Boguski, M.9
Collins, F.S.10
-
23
-
-
0025251137
-
The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21
-
Martin GA, Viskochil D, Bollag G, McCabe PC, Crosier WJ, Haubruck H, Conroy L, Clark R, O'Connell P, Cawthon RM (1990) The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell 63:843-849
-
(1990)
Cell
, vol.63
, pp. 843-849
-
-
Martin, G.A.1
Viskochil, D.2
Bollag, G.3
McCabe, P.C.4
Crosier, W.J.5
Haubruck, H.6
Conroy, L.7
Clark, R.8
O'Connell, P.9
Cawthon, R.M.10
-
24
-
-
0034081412
-
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
-
Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD (2000) Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 200:15:541-555
-
(2000)
Hum Mutat
, vol.200
, Issue.15
, pp. 541-555
-
-
Messiaen, L.M.1
Callens, T.2
Mortier, G.3
Beysen, D.4
Vandenbroucke, I.5
Van Roy, N.6
Speleman, F.7
Paepe, A.D.8
-
25
-
-
0031782618
-
Alternative splicing of exon 29 and 30 in the neurofibromatosis type 1 gene
-
Park VM, Kenwright KA, Sturtevant DB, Pivnick EK (1998) Alternative splicing of exon 29 and 30 in the neurofibromatosis type 1 gene. Hum Genet 103:382-385
-
(1998)
Hum Genet
, vol.103
, pp. 382-385
-
-
Park, V.M.1
Kenwright, K.A.2
Sturtevant, D.B.3
Pivnick, E.K.4
-
26
-
-
0035680324
-
The HUGO Gene Nomenclature Committee (HGNC)
-
DOI 10.1007/s00439-001-0615-0
-
Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). Hum Genet DOI 10.1007/s00439-001-0615-0
-
(2001)
Hum Genet
-
-
Povey, S.1
Lovering, R.2
Bruford, E.3
Wright, M.4
Lush, M.5
Wain, H.6
-
27
-
-
0029938862
-
Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis ast the NF1 locus
-
Purandare SM, Cawthon R, Nelson LM, Sawada S, Watkins WS, Ward K, Jorde LB, Viskochil,DH (1996) Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis ast the NF1 locus. Am J Hum Genet 59:159-166
-
(1996)
Am J Hum Genet
, vol.59
, pp. 159-166
-
-
Purandare, S.M.1
Cawthon, R.2
Nelson, L.M.3
Sawada, S.4
Watkins, W.S.5
Ward, K.6
Jorde, L.B.7
Viskochil, D.H.8
-
28
-
-
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
-
29
-
-
0003755772
-
A rapid and simple method of generating locus-specific probes for FISH analysis
-
T01618
-
Riva P, Corrado L, Colapietro P, Larizza L (1999) Technical Tips Online (http://tto.trends.com) T01618
-
(1999)
-
-
Riva, P.1
Corrado, L.2
Colapietro, P.3
Larizza, L.4
-
30
-
-
0033909456
-
NF1 microdeletion syndrome: Refined FISH characterization of sporadic and familial deletions with locus-specific probes
-
Riva P, Corrado L, Natacci F, Castorina P, Wu BL, Schneider GH, Clementi M, Tenconi R, Korf BR, Larizza L (2000) NF1 microdeletion syndrome: Refined FISH characterization of sporadic and familial deletions with locus-specific probes. Am J Hum Genet 66:100-109
-
(2000)
Am J Hum Genet
, vol.66
, pp. 100-109
-
-
Riva, P.1
Corrado, L.2
Natacci, F.3
Castorina, P.4
Wu, B.L.5
Schneider, G.H.6
Clementi, M.7
Tenconi, R.8
Korf, B.R.9
Larizza, L.10
-
31
-
-
25544453751
-
Improved protocol for the preparation of chromatin fibers from fixed cells
-
T01123
-
Speleman F, Van Gele M, Maertens L, Van Roy N (1997) Improved protocol for the preparation of chromatin fibers from fixed cells. Technical Tips Online (http://tto.trends.com) T01123
-
(1997)
-
-
Speleman, F.1
Van Gele, M.2
Maertens, L.3
Van Roy, N.4
-
32
-
-
0033951675
-
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease
-
Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E (2000) Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum Mutat 15:181-188
-
(2000)
Hum Mutat
, vol.15
, pp. 181-188
-
-
Stone, D.L.1
Tayebi, N.2
Orvisky, E.3
Stubblefield, B.4
Madike, V.5
Sidransky, E.6
-
33
-
-
0031060683
-
Mutations and functional analysis of the neurofibromatosis type 1 (NF1) gene
-
Upadhyaya M, Osborn MJ, Maynard J, Kim MR, Tamanoi F, Cooper DN (1997) Mutations and functional analysis of the neurofibromatosis type 1 (NF1) gene. Hum Genet 99:88-92
-
(1997)
Hum Genet
, vol.99
, pp. 88-92
-
-
Upadhyaya, M.1
Osborn, M.J.2
Maynard, J.3
Kim, M.R.4
Tamanoi, F.5
Cooper, D.N.6
-
34
-
-
0031857758
-
Gene conversion is a likely cause of mutatons in PDK1
-
Watnick TJ, Gandolph MA, Weber H, Neumann HP, Germino GG (1998) Gene conversion is a likely cause of mutatons in PDK1. Hum Mol Genet 7:1239-1243
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1239-1243
-
-
Watnick, T.J.1
Gandolph, M.A.2
Weber, H.3
Neumann, H.P.4
Germino, G.G.5
|