-
1
-
-
0037100098
-
Genetic risk assessment in carrier testing for spinal muscular atrophy
-
Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet 2002;110:301-7.
-
(2002)
Am J Med Genet
, vol.110
, pp. 301-307
-
-
Ogino, S.1
Leonard, D.G.2
Rennert, H.3
Ewens, W.J.4
Wilson, R.B.5
-
2
-
-
44949282843
-
Workshop report: International MA collaboration
-
Munsat TL. Workshop report: international MA collaboration. Neuromusc Disord 1991;1:81.
-
(1991)
Neuromusc Disord
, vol.1
, pp. 81
-
-
Munsat, T.L.1
-
3
-
-
0018238065
-
Incidence, prevalence and gene frequency of chronic childhood spinal muscular atrophy
-
Pearn J. Incidence, prevalence and gene frequency of chronic childhood spinal muscular atrophy. J Med Genet 1998;15:409-13.
-
(1998)
J Med Genet
, vol.15
, pp. 409-413
-
-
Pearn, J.1
-
4
-
-
0018165396
-
A clinical and genetic study of spinal muscular atrophy of adult onset: The autosomal recessive form as a discrete disease entity
-
Pearn JH, Hudgson P, Walton JN. A clinical and genetic study of spinal muscular atrophy of adult onset: the autosomal recessive form as a discrete disease entity. Brain 1978;101:591-606.
-
(1978)
Brain
, vol.101
, pp. 591-606
-
-
Pearn, J.H.1
Hudgson, P.2
Walton, J.N.3
-
5
-
-
0025260440
-
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3
-
Brzustowicz LM, Lehner T, Castilla LH, Penchaszadeh GK, Wilhelmsen KC, Daniels R, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 1990;344:540-1.
-
(1990)
Nature
, vol.344
, pp. 540-541
-
-
Brzustowicz, L.M.1
Lehner, T.2
Castilla, L.H.3
Penchaszadeh, G.K.4
Wilhelmsen, K.C.5
Daniels, R.6
-
6
-
-
0025330316
-
Genetic homogeneity between acute and chronic forms of spinal muscular atrophy
-
Gillian TC, Brzustowicz LM, Castilla LH, Lehner T, Penchaszadeh GK, Daniels RJ, et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 1990;345:823-5.
-
(1990)
Nature
, vol.345
, pp. 823-825
-
-
Gillian, T.C.1
Brzustowicz, L.M.2
Castilla, L.H.3
Lehner, T.4
Penchaszadeh, G.K.5
Daniels, R.J.6
-
7
-
-
0025319713
-
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q
-
Melki J, Abdelhak S, Sheth P, Bachelot MF, Burlet P, Marcadet A, et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990;344:767-8.
-
(1990)
Nature
, vol.344
, pp. 767-768
-
-
Melki, J.1
Abdelhak, S.2
Sheth, P.3
Bachelot, M.F.4
Burlet, P.5
Marcadet, A.6
-
8
-
-
0025299356
-
Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14
-
Melki J, Sheth P, Abdelhak S, Burlet P, Bachelot MF, Lathrop MG, et al. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. Lancet 1990;336:271-3.
-
(1990)
Lancet
, vol.336
, pp. 271-273
-
-
Melki, J.1
Sheth, P.2
Abdelhak, S.3
Burlet, P.4
Bachelot, M.F.5
Lathrop, M.G.6
-
9
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-65.
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
-
10
-
-
0028896092
-
The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
-
Roy N, Mahadevan MS, McLean M, Shutler G, Yaraghi Z, Farahani R, et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 1995;80:167-78.
-
(1995)
Cell
, vol.80
, pp. 167-178
-
-
Roy, N.1
Mahadevan, M.S.2
McLean, M.3
Shutler, G.4
Yaraghi, Z.5
Farahani, R.6
-
11
-
-
0034007548
-
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
-
Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 2000;15:228-37.
-
(2000)
Hum Mutat
, vol.15
, pp. 228-237
-
-
Wirth, B.1
-
12
-
-
0028842926
-
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients
-
Bussaglia E, Clermont O, Tizzano E, Levebvre S, Bürglen L, Cruaud C, et al. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet 1995;11:335-7.
-
(1995)
Nat Genet
, vol.11
, pp. 335-337
-
-
Bussaglia, E.1
Clermont, O.2
Tizzano, E.3
Levebvre, S.4
Bürglen, L.5
Cruaud, C.6
-
13
-
-
0027057672
-
International SMA consortium meeting (26-28 June 1992, Bonn, Germany)
-
Munsat TL, Davies KE. International SMA consortium meeting (26-28 June 1992, Bonn, Germany). Neuromuscul Disord 1992;2:423-8.
-
(1992)
Neuromuscul Disord
, vol.2
, pp. 423-428
-
-
Munsat, T.L.1
Davies, K.E.2
-
14
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
15
-
-
0034133861
-
Deletion of SMN and NAIP genes in Korean patients with spinal muscular atrophy
-
Shin S, Park SS, Hwang YS, Lee KW, Park MH. Deletion of SMN and NAIP genes in Korean patients with spinal muscular atrophy. J Korean Med Sci 2000;15:93-8.
-
(2000)
J Korean Med Sci
, vol.15
, pp. 93-98
-
-
Shin, S.1
Park, S.S.2
Hwang, Y.S.3
Lee, K.W.4
Park, M.H.5
-
16
-
-
0035068469
-
Characterisation of SMN hybrid genes in Spanish SMA patients: De novo, homozygous and compound heterozygous case
-
Cusco I, Barcelo M, Rio E, Martin Y, Hernandez-Chico C, Bussaglia E, et al. Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous case. Hum Genet 2001;108:222-9.
-
(2001)
Hum Genet
, vol.108
, pp. 222-229
-
-
Cusco, I.1
Barcelo, M.2
Rio, E.3
Martin, Y.4
Hernandez-Chico, C.5
Bussaglia, E.6
-
17
-
-
85173384330
-
-
Samilchuck E, D Souza B, Bastaki, al-Awadi S. Deletion analysis of the SMN and NAIP genes in Kuwaiti patients with spinal muscular atrophy. Hum Genet 1996;98:524-7.
-
Samilchuck E, D Souza B, Bastaki, al-Awadi S. Deletion analysis of the SMN and NAIP genes in Kuwaiti patients with spinal muscular atrophy. Hum Genet 1996;98:524-7.
-
-
-
-
18
-
-
0026556253
-
Prenatal prediction of spinal muscular atrophy
-
Daniels RJ, Suthers GK, Morrison KE, Thomas NH, Francis MJ, Mathew CG, et al. Prenatal prediction of spinal muscular atrophy. J Med Genet 1992;29:165-70.
-
(1992)
J Med Genet
, vol.29
, pp. 165-170
-
-
Daniels, R.J.1
Suthers, G.K.2
Morrison, K.E.3
Thomas, N.H.4
Francis, M.J.5
Mathew, C.G.6
-
19
-
-
0026522567
-
Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes
-
Melki J, Abdelhak S, Burlet P, Raclin V, Kaplan J, Spiegel R, et al. Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes. J Med Genet 1992;29:171-4.
-
(1992)
J Med Genet
, vol.29
, pp. 171-174
-
-
Melki, J.1
Abdelhak, S.2
Burlet, P.3
Raclin, V.4
Kaplan, J.5
Spiegel, R.6
-
20
-
-
0025358932
-
Rapid detection of hypervariable regions by the polymerase chain reaction technique
-
Decorte R, Cuppens H, Marynen P, Cassimen JJ. Rapid detection of hypervariable regions by the polymerase chain reaction technique. DNA Cell Biol 1990;86:461-9.
-
(1990)
DNA Cell Biol
, vol.86
, pp. 461-469
-
-
Decorte, R.1
Cuppens, H.2
Marynen, P.3
Cassimen, J.J.4
-
21
-
-
0028863567
-
Molecular basis of spinal muscular atrophy in Chinese
-
Chang JG, Jong YJ, Huang JM, Wang WS, Yanq TY, Chanq CP, et al. Molecular basis of spinal muscular atrophy in Chinese. Am J Hum Genet 1995;57:1503-5.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1503-1505
-
-
Chang, J.G.1
Jong, Y.J.2
Huang, J.M.3
Wang, W.S.4
Yanq, T.Y.5
Chanq, C.P.6
-
22
-
-
0033008529
-
Deletion analysis in Turkish patients with spinal muscular atrophy
-
Erdem H, Pehlivan S, Topaloglu H, Oguc M. Deletion analysis in Turkish patients with spinal muscular atrophy. Brain Dev 1999;21:86-9.
-
(1999)
Brain Dev
, vol.21
, pp. 86-89
-
-
Erdem, H.1
Pehlivan, S.2
Topaloglu, H.3
Oguc, M.4
-
24
-
-
0032507973
-
Molecular analysis of the SMN and NAIP genes in Saudi spinal muscular atrophy patients
-
Al Rajeh S, Majumdar R, Awada A, Adeyokunnu A, Al Jumah M, Al Bunyan M, et al. Molecular analysis of the SMN and NAIP genes in Saudi spinal muscular atrophy patients. J Neuro Sci 1998;158:43-6.
-
(1998)
J Neuro Sci
, vol.158
, pp. 43-46
-
-
Al Rajeh, S.1
Majumdar, R.2
Awada, A.3
Adeyokunnu, A.4
Al Jumah, M.5
Al Bunyan, M.6
-
25
-
-
11144357728
-
Deletion of the SMN1 and NAIP genes in Vietnamese patients with spinal muscular atrophy
-
Nguyen DB, Sadewa AH, Takeshima Y, Sutomo R, Tran VK, Nguyen TN, et al. Deletion of the SMN1 and NAIP genes in Vietnamese patients with spinal muscular atrophy. Kobe J Med Sci 2003;49:55-8.
-
(2003)
Kobe J Med Sci
, vol.49
, pp. 55-58
-
-
Nguyen, D.B.1
Sadewa, A.H.2
Takeshima, Y.3
Sutomo, R.4
Tran, V.K.5
Nguyen, T.N.6
-
26
-
-
0142042847
-
High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients
-
Bouhouche A, Benomar A, Birouk N, Bouslam N, Ouazzani R, Yahyaoui M, et al. High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients. J Neurol 2003;250:1209-13.
-
(2003)
J Neurol
, vol.250
, pp. 1209-1213
-
-
Bouhouche, A.1
Benomar, A.2
Birouk, N.3
Bouslam, N.4
Ouazzani, R.5
Yahyaoui, M.6
-
27
-
-
0031686467
-
The role of the SMN gene in proximal spinal atrophy
-
Lefebvre S, Burglen L, Frezal J, Munnich A, Melki J. The role of the SMN gene in proximal spinal atrophy. Hum Mol Genet 1998;10:1531-6.
-
(1998)
Hum Mol Genet
, vol.10
, pp. 1531-1536
-
-
Lefebvre, S.1
Burglen, L.2
Frezal, J.3
Munnich, A.4
Melki, J.5
-
28
-
-
85173362415
-
Epidemiology and relative incidence of rare neurometabolic and neurogenetic disorders in Iran
-
Shafeghati Y, Karimi-Nejad R, Azimi F, Karimi-Nejad MH, Huijmans JGM, Babamohammadi, M, et al. Epidemiology and relative incidence of rare neurometabolic and neurogenetic disorders in Iran. Arch Iran Med 2001;4:67-71.
-
(2001)
Arch Iran Med
, vol.4
, pp. 67-71
-
-
Shafeghati, Y.1
Karimi-Nejad, R.2
Azimi, F.3
Karimi-Nejad, M.H.4
Huijmans, J.G.M.5
Babamohammadi, M.6
-
29
-
-
34547187703
-
Distribution of β-thalassemia mutations in Northern provinces of Iran
-
Derakhshandeh-Peykar P, Akhavan-Niaki H, Tamaddoni A, Ghawidel-Parsa S, Holakouie Naieni K, Rahmani M, et al. Distribution of β-thalassemia mutations in Northern provinces of Iran. Haemoglobin 2007;3:351-6.
-
(2007)
Haemoglobin
, vol.3
, pp. 351-356
-
-
Derakhshandeh-Peykar, P.1
Akhavan-Niaki, H.2
Tamaddoni, A.3
Ghawidel-Parsa, S.4
Holakouie Naieni, K.5
Rahmani, M.6
-
30
-
-
0030985898
-
Identification of proximal spinal Moscular atrophy carriers and patients by analysis of SMN1 and SMN2 gene copy number
-
McAndrew PE, Parsons DW, Simard LR, Rochette C, Ray P N, Mendell J R, et al. Identification of proximal spinal Moscular atrophy carriers and patients by analysis of SMN1 and SMN2 gene copy number. Am J Hum Genet 1997;60:1411-22.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1411-1422
-
-
McAndrew, P.E.1
Parsons, D.W.2
Simard, L.R.3
Rochette, C.4
Ray, P.N.5
Mendell, J.R.6
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