-
1
-
-
0029934242
-
Prenatal diagnosis and carrier screening for fragile X by PCR
-
BROWN, W.T., NOLIN, S., HOUCK, G. JR., DING, X., GLICKSMAN, A., LI, S.Y., STARK-HOUCK, S., BROPHY, P., DUNCAN, C., DOBKIN, C., and JENKINS, E. (1996). Prenatal diagnosis and carrier screening for fragile X by PCR. Am. J. Med. Genet. 64(1), 191-195.
-
(1996)
Am. J. Med. Genet.
, vol.64
, Issue.1
, pp. 191-195
-
-
Brown, W.T.1
Nolin, S.2
Houck Jr., G.3
Ding, X.4
Glicksman, A.5
Li, S.Y.6
Stark-Houck, S.7
Brophy, P.8
Duncan, C.9
Dobkin, C.10
Jenkins, E.11
-
2
-
-
0025260440
-
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3
-
BRZUSTOWICZ, L.M., LEHNER, T., CASTILLA, L.H., PENCHASZADEH, G.K., WILHELMSEN, K.C., DANIELS, R., DAVIES, K.E., LEPPERT, M., ZITER, F., WOOD, D., DUBOWITZ, V., ZERRES, K., HAUSMANOWA-PETRUSEWICZ, I., OTT, J., MUNSAT, T.L., and GILLIAM, T.C. (1990). Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 344, 540-541.
-
(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
Davies, K.E.7
Leppert, M.8
Ziter, F.9
Wood, D.10
Dubowitz, V.11
Zerres, K.12
Hausmanowa-Petrusewicz, I.13
Ott, J.14
Munsat, T.L.15
Gilliam, T.C.16
-
3
-
-
0030863569
-
When is a deletion not a deletion? When it is converted
-
BURGHES, A.H.M. (1997). When is a deletion not a deletion? When it is converted. Am. J. Hum. Genet. 61, 9-15.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 9-15
-
-
Burghes, A.H.M.1
-
4
-
-
0029143853
-
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy
-
COBBEN, J.M., VAN DER STEEGE, G., GROOTSCHOLTEN, P., DE VISSER, M., SCHEFFER, H., and BUYS, C.H.C.M. (1995). Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am. J. Hum. Genet. 57, 805-808.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 805-808
-
-
Cobben, J.M.1
Van Der Steege, G.2
Grootscholten, P.3
De Visser, M.4
Scheffer, H.5
Buys, C.H.C.M.6
-
5
-
-
0029816578
-
Prenatal prediction of spinal muscular atrophy
-
COBBEN, J.M., SCHEFFER, H., DE VISSER, M., VAN DER STEEGE, G., VERHEY, J.B.B.M., OSINGA, J., BURTON, M., MENSINK, R.G.J., GROOTSCHOLTEN, P.M., TEN KATE, L.P., and BUYS, C.H.C.M. (1996). Prenatal prediction of spinal muscular atrophy. Eur. J. Hum. Genet. 4, 231-236.
-
(1996)
Eur. J. Hum. Genet.
, vol.4
, pp. 231-236
-
-
Cobben, J.M.1
Scheffer, H.2
De Visser, M.3
Van Der Steege, G.4
Verhey, J.B.B.M.5
Osinga, J.6
Burton, M.7
Mensink, R.G.J.8
Grootscholten, P.M.9
Ten Kate, L.P.10
Buys, C.H.C.M.11
-
6
-
-
0026556253
-
Prenatal prediction of spinal muscular atrophy
-
DANIELS, R.J., SUTHERS, G.K., MORRISON, K.E., THOMAS, N.H., FRANCIS, M.J., MATHEW, C.G., LOUGHLIN, S., HEIBERG, A., WOOD, D., DUBOWITZ, V., and DAVIES, K.E. (1992). Prenatal prediction of spinal muscular atrophy. J. Med. Genet. 29, 165-170.
-
(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
Loughlin, S.7
Heiberg, A.8
Wood, D.9
Dubowitz, V.10
Davies, K.E.11
-
7
-
-
0025330316
-
Genetic homogeneity between acute and chronic forms of spinal muscular atrophy
-
GILLIAM, T.C., BRZUSTOWICZ, L.M., CASTILLA, L.H., LEHNER, T., PENCHASZADEH, G.K., DANIELS, R.J., BYTH, B.C., KNOWLES, J., HISLOP, J.E., SHAPIRA, Y., DUBOWITZ, V., MUNSAT, T.L., OTT, J., and DAVIES, K.E. (1990). Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 345, 823-825.
-
(1990)
Nature
, vol.345
, pp. 823-825
-
-
Gilliam, T.C.1
Brzustowicz, L.M.2
Castilla, L.H.3
Lehner, T.4
Penchaszadeh, G.K.5
Daniels, R.J.6
Byth, B.C.7
Knowles, J.8
Hislop, J.E.9
Shapira, Y.10
Dubowitz, V.11
Munsat, T.L.12
Ott, J.13
Davies, K.E.14
-
8
-
-
0028785098
-
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals
-
HAHNEN, E., FORKERT, R., MARKE, C., RUDNIK-SCHONEBORN, S., SCHONLING, J., ZERRES, K., and WIRTH, B. (1995). Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum. Mol. Genet. 4, 1927-1933.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1927-1933
-
-
Hahnen, E.1
Forkert, R.2
Marke, C.3
Rudnik-Schoneborn, S.4
Schonling, J.5
Zerres, K.6
Wirth, B.7
-
9
-
-
0026682553
-
-
LEDBETTER, D.H., ZACHARY, J.M., SIMPSON, J.L., GOLBUS, M.S., PERGAMENT, E., JACKSON, L., MAHONEY, M.J., DESNIK, R.J., SCHULMAN, J., COPELAND, K.L., VERLINSKY, Y., YANGFENG, T., SCHONBERG, S.A., BABU, A., THARAPEL, A., DORFMANN, A., LUBS, H.A., RHOADS, G.G., FOWLER, S.E., and DE LA CRUZ, F. (1992). Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat. Diagn. 12, 317-345.
-
(1992)
Cytogenetic Results from the U.S. Collaborative Study on CVS. Prenat. Diagn.
, vol.12
, pp. 317-345
-
-
Ledbetter, D.H.1
Zachary, J.M.2
Simpson, J.L.3
Golbus, M.S.4
Pergament, E.5
Jackson, L.6
Mahoney, M.J.7
Desnik, R.J.8
Schulman, J.9
Copeland, K.L.10
Verlinsky, Y.11
Yangfeng, T.12
Schonberg, S.A.13
Babu, A.14
Tharapel, A.15
Dorfmann, A.16
Lubs, H.A.17
Rhoads, G.G.18
Fowler, S.E.19
De La Cruz, F.20
more..
-
10
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
LEFEBVRE, S., BURGLEN, L., REBOULLET, S., CLERMONT, O., BURLET, P., VIOLLET, L., BENICHOU, B., CRUAUD, C., MILLASSEAU, P., ZEVIANI, M., LE PASLIER, D., FREZAL, J., COHEN, D., WEISSENBACH, J., MUNNICH, A., and MELKI, J. (1995). Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155-165.
-
(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
Benichou, B.7
Cruaud, C.8
Millasseau, P.9
Zeviani, M.10
Le Paslier, D.11
Frezal, J.12
Cohen, D.13
Weissenbach, J.14
Munnich, A.15
Melki, J.16
-
11
-
-
0028812154
-
Genes for SMA: Multurn in Parvo
-
LEWIN, B. (1995). Genes for SMA: Multurn In Parvo. Cell 80, 1-5.
-
(1995)
Cell
, vol.80
, pp. 1-5
-
-
Lewin, B.1
-
12
-
-
0029971161
-
Unusual molecular findings in autosomal recessive spinal muscular atrophy
-
MATTHIJS, G., SCHOLLEN, E., LEGIUS, E., DEVRIENDT, K., GOEMANS, N., KAYSERILI, H., APAK, M.Y., and CASSIMAN, J.J. (1996). Unusual molecular findings in autosomal recessive spinal muscular atrophy. J. Med. Genet. 33, 469-474.
-
(1996)
J. Med. Genet.
, vol.33
, pp. 469-474
-
-
Matthijs, G.1
Schollen, E.2
Legius, E.3
Devriendt, K.4
Goemans, N.5
Kayserili, H.6
Apak, M.Y.7
Cassiman, J.J.8
-
13
-
-
0030985898
-
C gene copy number
-
C gene copy number. Am. J. Hum. Genet. 60, 1411-1422.
-
(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
Prior, T.W.7
Burghes, A.H.8
-
14
-
-
0025319713
-
Gene for chronic proximal spinal muscular atrophy maps to chromosome 5q
-
MELKI, J., ABDELHAK, S., SHETH, P., BACHELOT, M.F., BURLET, P., MARCADET, A., AICARDI, J., BAROIS, A., CARRIERE, J.P., FARDEAU, M., FONTAN, D., PONSOT, G., BILLETTE, T., ANGELINI, C., BARBOSA, C., FERRIERE, G., LANZI, G., OTTOLINI, A., BABRON, M.C., COHEN, D., HANAUER, A., CLERGET-DARPOUX, F., LATHROP, M., MUNNICH, A., and FREZAL, J. (1990a). Gene for chronic proximal spinal muscular atrophy maps to chromosome 5q. Nature 344, 767-768.
-
(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
Aicardi, J.7
Barois, A.8
Carriere, J.P.9
Fardeau, M.10
Fontan, D.11
Ponsot, G.12
Billette, T.13
Angelini, C.14
Barbosa, C.15
Ferriere, G.16
Lanzi, G.17
Ottolini, A.18
Babron, M.C.19
Cohen, D.20
Hanauer, A.21
Clerget-Darpoux, F.22
Lathrop, M.23
Munnich, A.24
Frezal, J.25
more..
-
15
-
-
0025299356
-
Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. the French Spinal Muscular Atrophy Investigators
-
MELKI, J., SHETH, P., ABDELHAK, S., BURLET, P., BACHELOT, M.F., LATHROP, M.G., FEZAL, J., and MUNNICH, A. (1990b). Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators. Lancet 336, 271-273.
-
(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
Fezal, J.7
Munnich, A.8
-
16
-
-
0026522567
-
Prenatal prediction of Werdnig-Hoffman disease using linked polymorphic DNA loci
-
MELKI, J., ABDELHAK, S., BURLET, P., RACLIN, V., KAPLAN, J., SPIEGEL, R., GILGENKRANTZ, S., PHILIP, N., CHAUVET, M.L., DUMEZ, Y., BRIARD, M.L., FREZAL, J., and MUNNICH, A. (1992). Prenatal prediction of Werdnig-Hoffman disease using linked polymorphic DNA loci. J. Med. Genet. 29, 171-174.
-
(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
Gilgenkrantz, S.7
Philip, N.8
Chauvet, M.L.9
Dumez, Y.10
Briard, M.L.11
Frezal, J.12
Munnich, A.13
-
17
-
-
0028905919
-
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
-
RODRIGUES, N.R., OWEN, N., TALBOT, K., IGNATIUS, J., DUBOWITZ, V., and DAVIES, K.E. (1995). Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum. Mol. Genet. 4, 631-634.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 631-634
-
-
Rodrigues, N.R.1
Owen, N.2
Talbot, K.3
Ignatius, J.4
Dubowitz, V.5
Davies, K.E.6
-
18
-
-
0028896092
-
The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
-
ROY, N., MAHADEVAN, M.S., McLEAN, M., SHUTLER, G., YARAGHI, Z., FARAHANI, R., BAIRD, S., BESNER-JOHNSTON, A., LEFEBVRE, C., KANG, X., SALIH, M., AUBRY, H., TAMAI, K., GUAN, X., IOANNOU, P., CRAWFORD, T.O., DE JONG, P.J., SURH, L., IKEDA, J.E., KORNELUK, R.G., and MACKENZIE, A. (1995). The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80, 167-178.
-
(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
Baird, S.7
Besner-Johnston, A.8
Lefebvre, C.9
Kang, X.10
Salih, M.11
Aubry, H.12
Tamai, K.13
Guan, X.14
Ioannou, P.15
Crawford, T.O.16
De Jong, P.J.17
Surh, L.18
Ikeda, J.E.19
Korneluk, R.G.20
Mackenzie, A.21
more..
-
19
-
-
0028206815
-
Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: Clinical picture, influence of gender, and genetic implications
-
RUDNIK-SCHONEBORN, S., ROHRIG, D., MORGAN, G., WIRTH, B., and ZERRES, K. (1994). Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: Clinical picture, influence of gender, and genetic implications. Am. J. Med. Genet. 51, 70-76.
-
(1994)
Am. J. Med. Genet.
, vol.51
, pp. 70-76
-
-
Rudnik-Schoneborn, S.1
Rohrig, D.2
Morgan, G.3
Wirth, B.4
Zerres, K.5
-
20
-
-
0031746981
-
Molecular diagnosis of spinal muscular atrophy
-
STEWART, H., WALLACE, A., McGAUGHRAN, J., MOUNTFORD, R., and KINGSTON, H. (1998). Molecular diagnosis of spinal muscular atrophy. Arch. Dis. Child. 78, 531-535.
-
(1998)
Arch. Dis. Child.
, vol.78
, pp. 531-535
-
-
Stewart, H.1
Wallace, A.2
McGaughran, J.3
Mountford, R.4
Kingston, H.5
-
21
-
-
0030051493
-
T) gene deletions in asymptomatic carriers of spinal muscular atrophy
-
T) gene deletions in asymptomatic carriers of spinal muscular atrophy. Hum. Mol. Genet. 5, 359-365.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 359-365
-
-
Wang, C.H.1
Xu, J.2
Carter, T.A.3
Ross, B.M.4
Dominski, M.K.5
Bellcross, C.A.6
Penchaszadeh, G.K.7
Munsat, T.L.8
Gilliam, T.C.9
-
22
-
-
0029034444
-
Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): Molecular genetics and clinical experience in 109 cases
-
WIRTH, B., RUDNIK-SCHONEBORN, S., HAHNEN, E., ROHRIG, D., and ZERRES, K. (1995). Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): Molecular genetics and clinical experience in 109 cases. Prenat. Diagn. 15, 407-417.
-
(1995)
Prenat. Diagn.
, vol.15
, pp. 407-417
-
-
Wirth, B.1
Rudnik-Schoneborn, S.2
Hahnen, E.3
Rohrig, D.4
Zerres, K.5
|