-
3
-
-
0030052666
-
Standardized nomenclature for Alu repeats
-
(1996)
J Mol Evol
, vol.42
, pp. 3-6
-
-
Batzer, M.A.1
Deininger, P.L.2
Hellmann-Blumberg, U.3
Jurka, J.4
Labuda, D.5
Rubin, C.M.6
Schmid, C.W.7
Zietkiewicz, E.8
Zuckerkandl, E.9
-
7
-
-
0032506147
-
Origins and antiquity of X-linked triallelic color vision systems in New World monkeys
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 13749-13754
-
-
Boissinot, S.1
Tan, Y.2
Shyue, S.-K.3
Schneider, H.4
Sampaio, I.5
Neiswanger, K.6
Hewett-Emmett, D.7
Li, W.-H.8
-
9
-
-
0030863569
-
Spinal muscular atrophy: When is a deletion not a deletion? When is it converted
-
(1997)
Am J Hum Genet
, vol.61
, pp. 9-15
-
-
Burghes, A.H.M.1
-
10
-
-
0343267780
-
Structure and organization of the human survival motor neuron (SMN) gene
-
(1996)
Genomics
, vol.32
, pp. 479-482
-
-
Bürglen, L.1
Lefebvre, S.2
Clermont, O.3
Burlet, P.4
Viollet, L.5
Cruaud, C.6
Munnich, A.7
Melki, J.8
-
11
-
-
0031026977
-
The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease
-
(1997)
Am J Hum Genet
, vol.60
, pp. 72-79
-
-
Bürglen, L.1
Seroz, T.2
Miniou, P.3
Lefebvre, S.4
Burlet, P.5
Munnich, A.6
Pequignot, E.V.7
Egly, J.-M.8
Melki, J.9
-
13
-
-
7844249275
-
The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1927-1933
-
-
Burlet, P.1
Huber, C.2
Bertrandy, S.3
Ludosky, M.A.4
Zwaenepoel, I.5
Clermont, O.6
Roume, J.7
Delezoide, A.L.8
Cartaud, J.9
Munnich, A.10
Lefebvre, S.11
-
14
-
-
0028842926
-
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients
-
(1995)
Nat Genet
, vol.5
, pp. 335-337
-
-
Bussaglia, E.1
Clermont, O.2
Tizzano, E.3
Lefebvre, S.4
Bürglen, L.5
Cruaud, C.6
Urtizberea, J.A.7
Colomer, J.8
Munnich, A.9
Baiget, M.10
Melki, J.11
-
15
-
-
8044226616
-
A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions
-
(1997)
Hum Mol Genet
, vol.6
, pp. 229-236
-
-
Carter, T.A.1
Bönnemann, C.G.2
Wang, C.H.3
Obici, S.4
Parano, E.5
Bonaldo, M.D.F.6
Ross, B.M.7
Penchaszadeh, G.K.8
Mackenzie, A.9
Soares, M.B.10
Kunkel, L.M.11
Gilliam, T.C.12
-
16
-
-
0031937537
-
Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP
-
(1998)
Genomics
, vol.48
, pp. 121-127
-
-
Chen, Q.1
Baird, S.D.2
Mahadevan, M.3
Besner-Johnston, A.4
Farahani, R.5
Xuan, J.Y.6
Kang, X.7
Lefebvre, C.8
Ikeda, J.-E.9
Korneluk, R.G.10
MacKenzie, A.E.11
-
18
-
-
8544283791
-
The survival motor neuron protein in spinal muscular atrophy
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1205-1214
-
-
Coovert, D.D.1
Le, T.T.2
McAndrew, P.E.3
Strasswimmer, J.4
Crawford, T.O.5
Mendell, R.J.6
Coulson, S.E.7
Androphy, E.J.8
Prior, T.W.9
Burghes, A.H.M.10
-
20
-
-
0030896085
-
Cloning, characterization, and copy number of the murine survival motor neuron gene: Homolog of the spinal muscular atrophy-determining gene
-
(1997)
Genome Res
, vol.7
, pp. 339-352
-
-
DiDonato, C.J.1
Chen, X.-N.2
Noya, D.3
Korenberg, J.R.4
Nadeau, J.H.5
Simard, L.R.6
-
23
-
-
8944233367
-
Duplication of a gene-rich cluster between 16p11.1 and Xq28: A novel pericentromeric-directed mechanism for paralogous genome evolution
-
(1996)
Hum Mol Genet
, vol.5
, pp. 899-912
-
-
Eichler, E.E.1
Lu, F.2
Shen, Y.3
Antonacci, R.4
Jurecic, V.5
Doggett, N.A.6
Moyzis, R.K.7
Baldini, A.8
Gibbs, R.A.9
Nelson, D.L.10
-
24
-
-
0033199172
-
Comparative sequence analysis of the mouse and human Lgn1/SMA interval
-
(1999)
Genomics
, vol.60
, pp. 137-151
-
-
Endrizzi, M.1
Huang, S.2
Scharf, J.M.3
Kelter, A.-R.4
Wirth, B.5
Kunkel, L.M.6
Miller, W.7
Dietrich, W.F.8
-
28
-
-
0345332409
-
Mitochondrial sequences show diverse evolutionary histories of African hominoids
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 5077-5082
-
-
Gagneux, P.1
Wills, C.2
Gerloff, U.3
Tautz, D.4
Morin, P.A.5
Boesch, C.6
Fruth, B.7
Hohmann, G.8
Ryder, O.A.9
Woodruff, D.S.10
-
29
-
-
0029147787
-
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients
-
(1995)
Biochem Biophys Res Commun
, vol.213
, pp. 342-348
-
-
Gennarelli, M.1
Lucarelli, M.2
Capon, F.3
Pizzuti, A.4
Merlini, L.5
Angelini, C.6
Novelli, G.7
Dallapiccola, B.8
-
30
-
-
0028958458
-
When it comes to evolution, humans are in the slow class
-
(1995)
Science
, vol.267
, pp. 1907-1908
-
-
Gibbons, A.1
-
36
-
-
0025320994
-
Duplicational mutation at the Duchenne muscular dystrophy locus: Its frequency, distribution, origin, and phenotypegenotype correlation
-
(1990)
Am J Hum Genet
, vol.46
, pp. 682-695
-
-
Hu, X.1
Ray, P.N.2
Murphy, E.G.3
Thompson, M.W.4
Worton, R.G.5
-
39
-
-
0030041854
-
Increased concentration of some transcription factor binding sites in human retroposons of the Alu family
-
(1996)
Genetica
, vol.97
, pp. 15-22
-
-
Kazakov, V.I.1
Tomilin, N.V.2
-
43
-
-
0033278643
-
Evolution of Rh blood group genes have experienced gene conversions and positive selection
-
(1999)
J Mol Evol
, vol.49
, pp. 615-626
-
-
Kitano, T.1
Saitou, N.2
-
44
-
-
0024588831
-
Tarsius δ- and β-globin genes: Conversions, evolution, and systematic implications
-
(1989)
J Biol Chem
, vol.264
, pp. 68-79
-
-
Koop, B.F.1
Siemieniak, D.2
Slightom, J.L.3
Goodman, M.4
Dunbar, J.5
Wright, P.C.6
Simons, E.7
-
45
-
-
0023946286
-
Human genome organization: Alu, lines, and the molecular structure of metaphase chromosome bands
-
(1988)
Cell
, vol.53
, pp. 391-400
-
-
Korenberg, J.R.1
Rykowski, M.C.2
-
47
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Bürglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
Benichou, B.7
Cruaud, C.8
Millasseau, P.9
Zeviani, M.10
Le Paslier, D.11
Frézal, J.12
Cohen, D.13
Weissenbach, J.14
Munnich, A.15
Melki, J.16
-
48
-
-
0030981541
-
Correlation between severity and SMN protein level in spinal muscular atrophy
-
(1997)
Nat Genet
, vol.16
, pp. 265-269
-
-
Lefebvre, S.1
Burlet, P.2
Liu, Q.3
Bertrandy, S.4
Clermont, O.5
Munnich, A.6
Dreyfuss, G.7
Melki, J.8
-
50
-
-
0029954338
-
A novel nuclear structure containing the survival of motor neurons protein
-
(1996)
EMBO J
, vol.15
, pp. 3555-3565
-
-
Liu, Q.1
Dreyfuss, G.2
-
51
-
-
0030931727
-
The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins
-
(1997)
Cell
, vol.90
, pp. 1013-1021
-
-
Liu, Q.1
Fischer, U.2
Wang, F.3
Dreyfuss, G.4
-
56
-
-
0033972072
-
The probability of duplicate gene preservation by subfunctionalization
-
(2000)
Genetics
, vol.154
, pp. 459-473
-
-
Lynch, M.1
Force, A.2
-
64
-
-
0029129326
-
Identification of a new subclass of Alu DNA repeats which can function as estrogen receptor-dependent transcriptional enhancers
-
(1995)
J Biol Chem
, vol.270
, pp. 22777-22782
-
-
Norris, J.1
Fan, D.2
Aleman, A.3
Marks, J.R.4
Futreal, P.A.5
Wiseman, R.W.6
Iglehart, J.D.7
Deninger, P.L.8
McDonnell, D.P.9
-
68
-
-
0018238065
-
Incidence, prevalence and gene-frequency studies of chronic childhood spinal muscular atrophy
-
(1978)
J Med Genet
, vol.15
, pp. 409-413
-
-
Pearn, J.1
-
70
-
-
0032525885
-
Diversity of sequence haplotypes associated with β-thalassaemia mutations in Algeria: Implications for their origin
-
(1998)
Gene
, vol.213
, pp. 169-177
-
-
Perrin, P.1
Bouhassa, R.2
Mselli, L.3
Garguier, N.4
Nigon, V.-M.5
Bennani, C.6
Labie, D.7
Trabuchet, G.8
-
71
-
-
0031022190
-
Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition
-
(1997)
Hum Mol Genet
, vol.6
, pp. 9-16
-
-
Régnier, V.1
Meddeb, M.2
Lecointre, G.3
Richard, F.4
Duverger, A.5
Nguyen, V.C.6
Dutrillaux, B.7
Bernheim, A.8
Danglot, G.9
-
72
-
-
0031215432
-
Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7
-
(1997)
Neurogenetics
, vol.1
, pp. 141-147
-
-
Rochette, C.F.1
Surh, L.C.2
Ray, P.N.3
McAndrew, P.E.4
Prior, T.W.5
Burghes, A.H.M.6
Vanasse, M.7
Simard, L.R.8
-
75
-
-
0031710558
-
Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics
-
(1998)
Nat Genet
, vol.20
, pp. 83-86
-
-
Scharf, J.M.1
Endrizzi, M.G.2
Wetter, A.3
Huang, S.4
Thompson, T.G.5
Zerres, K.6
Dietrich, W.E.7
Wirth, B.8
Kunkel, L.M.9
-
76
-
-
0030931720
-
Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 9920-9925
-
-
Schrank, B.1
Götz, R.2
Gunnersen, J.M.3
Ure, J.M.4
Toyka, K.V.5
Smith, A.G.6
Sendtner, M.7
-
83
-
-
0028922174
-
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
-
(1995)
Lancet
, vol.345
, pp. 985-986
-
-
Van Der Steege, G.1
Grootscholten, P.M.2
Van Der Vlies, P.3
Draaijers, T.G.4
Osinga, J.5
Cobben, J.M.6
Scheffer, H.7
Buys, C.8
-
86
-
-
0031568882
-
cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn)
-
(1997)
Genomics
, vol.40
, pp. 185-188
-
-
Viollet, L.1
Bertrandy, S.2
Bueno Brunialti, A.L.3
Lefebvre, S.4
Burlet, P.5
Clermont, O.6
Cruaud, C.7
Guénet, J.-L.8
Munnich, A.9
Melki, J.10
-
87
-
-
0032715473
-
Detection of the survival motor neuron (SMN) genes by FISH: Further evidence for a role for SMN2 in the modulation of disease severity in SMA patients
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2525-2532
-
-
Vitali, T.1
Sossi, V.2
Tiziano, F.3
Zappata, S.4
Giuli, A.5
Paravatou-Petsotas, M.6
Neri, G.7
Brahe, C.8
-
88
-
-
0023449349
-
Sequence-dependent gene conversion: Can duplicated genes diverge fast enough to escape conversion?
-
(1987)
Genetics
, vol.117
, pp. 543-557
-
-
Walsh, J.B.1
-
93
-
-
0034007548
-
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
-
(2000)
Hum Mutat
, vol.15
, pp. 228-237
-
-
Wirth, B.1
-
94
-
-
0033358719
-
Quantitative analysis of survival motor neuron copies: Identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1340-1356
-
-
Wirth, B.1
Herz, M.2
Wetter, A.3
Moskaw, S.4
Hahnen, E.5
Rudnik-Schöneborn, S.6
Wienker, T.7
Zerres, K.8
-
95
-
-
0345055331
-
Nuclear DNA diversity in worldwide distributed human populations
-
(1997)
Gene
, vol.205
, pp. 161-171
-
-
Zietkiewicz, E.1
Yotova, V.2
Jarnik, M.3
Korab-Laskowska, M.4
Kidd, K.K.5
Modiano, D.6
Scozzari, R.7
Stoneking, M.8
Tishkoff, S.9
Batzer, M.10
Labuda, D.11
|