-
2
-
-
0031290534
-
Visualization of the CMT1A duplication and HNPP deletion by FISH on stretched chromosome fibers
-
Rautenstrauss B., Fuchs C., Liehr T., et al. Visualization of the CMT1A duplication and HNPP deletion by FISH on stretched chromosome fibers. J Peripher Nerv Syst. 2:1997;319-322
-
(1997)
J Peripher Nerv Syst
, vol.2
, pp. 319-322
-
-
Rautenstrauss, B.1
Fuchs, C.2
Liehr, T.3
-
3
-
-
0031004203
-
Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory
-
Shaffer L.G., Kennedy G.M., Spikes A.S., et al. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am J Med Genet. 69:1997;325-331
-
(1997)
Am J Med Genet
, vol.69
, pp. 325-331
-
-
Shaffer, L.G.1
Kennedy, G.M.2
Spikes, A.S.3
-
4
-
-
2942736227
-
-
National Coalition for Health Professional Education in Genetics Website.
-
National Coalition for Health Professional Education in Genetics Website. Available at: www.nchpeg.org/. Accessed May 16, 2004.
-
-
-
-
5
-
-
0002896804
-
Sue une forme particulaire d'atrophie musculaire progressive souvent familial debutant par les pieds et les jamber et atteingnant plus tard les mains
-
Charcot J., Marie P. Sue une forme particulaire d'atrophie musculaire progressive souvent familial debutant par les pieds et les jamber et atteingnant plus tard les mains. Rev Med. 6:1886;97-138
-
(1886)
Rev Med
, vol.6
, pp. 97-138
-
-
Charcot, J.1
Marie, P.2
-
7
-
-
0033809078
-
Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis
-
Lewis R.A., Sumner A.J., Shy M.E. Electrophysiological features of inherited demyelinating neuropathies: a reappraisal in the era of molecular diagnosis. Muscle Nerve. 23:2000;1472-1487
-
(2000)
Muscle Nerve
, vol.23
, pp. 1472-1487
-
-
Lewis, R.A.1
Sumner, A.J.2
Shy, M.E.3
-
8
-
-
0023614271
-
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
-
Koenig M., Hoffman E.P., Bertelson C.J., et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 50:1987;509-517
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
Hoffman, E.P.2
Bertelson, C.J.3
-
9
-
-
0023745057
-
Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: Location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations
-
Darras B.T., Blattner P., Harper J.F., et al. Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations. Am J Hum Genet. 43:1988;620-629
-
(1988)
Am J Hum Genet
, vol.43
, pp. 620-629
-
-
Darras, B.T.1
Blattner, P.2
Harper, J.F.3
-
10
-
-
0025320994
-
Duplicational mutation at the Duchenne muscular dystrophy locus: Its frequency, distribution, origin, and phenotypegenotype correlation
-
Hu X.Y., Ray P.N., Murphy E.G., et al. Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation. Am J Hum Genet. 46:1990;682-695
-
(1990)
Am J Hum Genet
, vol.46
, pp. 682-695
-
-
Hu, X.Y.1
Ray, P.N.2
Murphy, E.G.3
-
11
-
-
0029020724
-
The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test
-
Gardner R.J., Bobrow M., Pearl D.K., et al. The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test. Am J Hum Genet. 57:1995;311-320
-
(1995)
Am J Hum Genet
, vol.57
, pp. 311-320
-
-
Gardner, R.J.1
Bobrow, M.2
Pearl, D.K.3
-
12
-
-
0029073192
-
Spectrum of small mutations in the dystrophin coding region
-
Prior T.W., Bartolo C., et al. Spectrum of small mutations in the dystrophin coding region. Am J Hum Genet. 57:1995;22-33
-
(1995)
Am J Hum Genet
, vol.57
, pp. 22-33
-
-
Prior, T.W.1
Bartolo, C.2
-
13
-
-
0034793618
-
Molecular pathogenesis of hereditary motor, sensory and autonomic neuropathies
-
Bennett C.L., Chance P.F. Molecular pathogenesis of hereditary motor, sensory and autonomic neuropathies. Curr Opin Neurol. 14:2001;621-627
-
(2001)
Curr Opin Neurol
, vol.14
, pp. 621-627
-
-
Bennett, C.L.1
Chance, P.F.2
-
14
-
-
0035964228
-
Diagnosis of Duchenne dystrophy by enhanced detection of small mutations
-
Mendell J.R., Buzin C.H., Feng J., et al. Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology. 57:2001;645-650
-
(2001)
Neurology
, vol.57
, pp. 645-650
-
-
Mendell, J.R.1
Buzin, C.H.2
Feng, J.3
-
15
-
-
0036837236
-
DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene
-
Dolinsky L.C., de Moura-Neto R.S., Falcao-Conceicao D.N. DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene. Neuromuscul Disord. 12:2002;845-848
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 845-848
-
-
Dolinsky, L.C.1
De Moura-Neto, R.S.2
Falcao-Conceicao, D.N.3
-
16
-
-
0032560851
-
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
-
Kobayashi K., Nakahori Y., Miyake M., et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 394:1998;388-392
-
(1998)
Nature
, vol.394
, pp. 388-392
-
-
Kobayashi, K.1
Nakahori, Y.2
Miyake, M.3
-
17
-
-
0038185363
-
"Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome."
-
Beltran-Valero de Bernabe D., Currier S., Steinbrecher A., et al. "Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome." Am J Hum Genet. 71:2002;1033-1043
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1033-1043
-
-
Beltran-Valero De Bernabe, D.1
Currier, S.2
Steinbrecher, A.3
-
18
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Moraes C.T., DiMauro S., Zeviani M., et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med. 320:1989;1293-1299
-
(1989)
N Engl J Med
, vol.320
, pp. 1293-1299
-
-
Moraes, C.T.1
Dimauro, S.2
Zeviani, M.3
-
19
-
-
0028334717
-
Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35
-
Hentati A., Bejaoui K., Pericak-Vance M.A., et al. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nat Genet. 7:1994;425-428
-
(1994)
Nat Genet
, vol.7
, pp. 425-428
-
-
Hentati, A.1
Bejaoui, K.2
Pericak-Vance, M.A.3
-
20
-
-
18244393223
-
A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q
-
Hand C.K., Khoris J., Salachas F., et al. A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. Am J Hum Genet. 70:2002;251-256
-
(2002)
Am J Hum Genet
, vol.70
, pp. 251-256
-
-
Hand, C.K.1
Khoris, J.2
Salachas, F.3
-
21
-
-
0031959591
-
Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34
-
Chance P.F., Rabin B.A., Ryan S.G., et al. Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Am J Hum Genet. 62:1998;633-640
-
(1998)
Am J Hum Genet
, vol.62
, pp. 633-640
-
-
Chance, P.F.1
Rabin, B.A.2
Ryan, S.G.3
-
22
-
-
0032414948
-
Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers
-
Hentati A., Ouahchi K., Pericak-Vance M.A., et al. Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics. 2:1998;55-60
-
(1998)
Neurogenetics
, vol.2
, pp. 55-60
-
-
Hentati, A.1
Ouahchi, K.2
Pericak-Vance, M.A.3
-
23
-
-
0041664055
-
Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q
-
Ruddy D.M., Parton M.J., Al-Chalabi A., et al. Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q. Am J Hum Genet. 73:2003;390-396
-
(2003)
Am J Hum Genet
, vol.73
, pp. 390-396
-
-
Ruddy, D.M.1
Parton, M.J.2
Al-Chalabi, A.3
-
24
-
-
0041664059
-
Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis
-
Sapp P.C., Hosler B.A., McKenna-Yasek D., et al. Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am J Hum Genet. 73:2003;397-403
-
(2003)
Am J Hum Genet
, vol.73
, pp. 397-403
-
-
Sapp, P.C.1
Hosler, B.A.2
McKenna-Yasek, D.3
-
25
-
-
0034605478
-
Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22
-
Hosler B.A., Tiddique T., Sapp P.C., et al. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA. 284:2000;1664-1669
-
(2000)
JAMA
, vol.284
, pp. 1664-1669
-
-
Hosler, B.A.1
Tiddique, T.2
Sapp, P.C.3
-
26
-
-
77952530338
-
Mitochondrial disorders overview
-
Chinery PF. Mitochondrial disorders overview. GeneReviews. Available at: www.genetests.org. Accessed 2003.
-
GeneReviews
-
-
Chinery, P.F.1
-
27
-
-
2942755023
-
Rearrangements of mitochondrial DNA
-
I. Holt. Oxford (UK): Oxford University Press
-
Schon E.A. Rearrangements of mitochondrial DNA. Holt I. Genetics of mitochondrial diseases. 2003;111-124 Oxford University Press, Oxford (UK)
-
(2003)
Genetics of Mitochondrial Diseases
, pp. 111-124
-
-
Schon, E.A.1
|