-
1
-
-
0018288741
-
Partial duplication of 17p: A new chromosomal syndrome
-
Bartsch-Sandhoff M, Hieronimi G (1979) Partial duplication of 17p: a new chromosomal syndrome. Hum Genet 49: 123-127
-
(1979)
Hum Genet
, vol.49
, pp. 123-127
-
-
Bartsch-Sandhoff, M.1
Hieronimi, G.2
-
2
-
-
0029927224
-
Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?
-
Brown A, Phelan MC, Patil S, Crawford E, Rogers RC, Schwartz C (1996) Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion? Am J Med Genet 63:373-377
-
(1996)
Am J Med Genet
, vol.63
, pp. 373-377
-
-
Brown, A.1
Phelan, M.C.2
Patil, S.3
Crawford, E.4
Rogers, R.C.5
Schwartz, C.6
-
3
-
-
0027972378
-
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
-
Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 3:223-228
-
(1994)
Hum Mol Genet
, vol.3
, pp. 223-228
-
-
Chance, P.F.1
Abbas, N.2
Lensch, M.W.3
Pentao, L.4
Roa, B.B.5
Patel, P.I.6
Lupski, J.R.7
-
4
-
-
0027509953
-
DNA deletion associated with hereditary neuropathy with liability to pressure palsies
-
Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, et al (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72:143-151
-
(1993)
Cell
, vol.72
, pp. 143-151
-
-
Chance, P.F.1
Alderson, M.K.2
Leppig, K.A.3
Lensch, M.W.4
Matsunami, N.5
Smith, B.6
Swanson, P.D.7
-
5
-
-
0028815790
-
The human homologue of the Drosophila melanogaster flightless-I gene (fliI) maps within the Smith-Magenis microdeletion critical region in 17p11.2
-
Chen K-S, Gunaratne PH, Hoheisel JD, Young IG, Gabor Miklos GL, Greenberg F, Shaffer LG, et al (1995) The human homologue of the Drosophila melanogaster flightless-I gene (fliI) maps within the Smith-Magenis microdeletion critical region in 17p11.2. Am J Hum Genet 56:175-182
-
(1995)
Am J Hum Genet
, vol.56
, pp. 175-182
-
-
Chen, K.-S.1
Gunaratne, P.H.2
Hoheisel, J.D.3
Young, I.G.4
Gabor Miklos, G.L.5
Greenberg, F.6
Shaffer, L.G.7
-
6
-
-
0030881588
-
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
-
Chen K-S, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee C-C, et al (1997) Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 17:154-163
-
(1997)
Nat Genet
, vol.17
, pp. 154-163
-
-
Chen, K.-S.1
Manian, P.2
Koeuth, T.3
Potocki, L.4
Zhao, Q.5
Chinault, A.C.6
Lee, C.-C.7
-
7
-
-
0000477117
-
The Smith-Magenis syndrome [del(17)p11.2]: Clinical review and molecular advances
-
Chen K-S, Potocki L, Lupski JR (1996a) The Smith-Magenis syndrome [del(17)p11.2]: clinical review and molecular advances. Ment Retard Dev Disabil Res Rev 2:122-129
-
(1996)
Ment Retard Dev Disabil Res Rev
, vol.2
, pp. 122-129
-
-
Chen, K.-S.1
Potocki, L.2
Lupski, J.R.3
-
9
-
-
0016749756
-
Familial carpal tunnel syndrome with onset in childhood
-
Danta G (1975) Familial carpal tunnel syndrome with onset in childhood. J Neurol Neurosurg Psychiatry 38:350-355
-
(1975)
J Neurol Neurosurg Psychiatry
, vol.38
, pp. 350-355
-
-
Danta, G.1
-
10
-
-
0031115936
-
Brief report: Cognitive and behavioral profiles in persons with Smith-Magenis syndrome
-
Dykens EM, Finucane BM, Gayley C (1997) Brief report: cognitive and behavioral profiles in persons with Smith-Magenis syndrome. J Autism Dev Disord 27:203-211
-
(1997)
J Autism Dev Disord
, vol.27
, pp. 203-211
-
-
Dykens, E.M.1
Finucane, B.M.2
Gayley, C.3
-
12
-
-
0027509150
-
Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome
-
Finucane BM, Jaeger ER, Kurtz MB, Weinstein M, Scott CI Jr. (1993) Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome. Am J Med Genet 45:443-446
-
(1993)
Am J Med Genet
, vol.45
, pp. 443-446
-
-
Finucane, B.M.1
Jaeger, E.R.2
Kurtz, M.B.3
Weinstein, M.4
Scott C.I., Jr.5
-
13
-
-
0028123806
-
The spasmodic upper-body squeeze: A characteristic behavior in Smith-Magenis syndrome
-
Finucane BM, Konar D, Haas-Givler B, Kurtz MB, Scott CI Jr. (1994) The spasmodic upper-body squeeze: a characteristic behavior in Smith-Magenis syndrome. Dev Med Child Neurol 36:78-83
-
(1994)
Dev Med Child Neurol
, vol.36
, pp. 78-83
-
-
Finucane, B.M.1
Konar, D.2
Haas-Givler, B.3
Kurtz, M.B.4
Scott C.I., Jr.5
-
15
-
-
0026347929
-
Molecular analysis of the Smith-Magenis syndrome: A possible contiguous-gene syndrome associated with del(17)(p11.2)
-
Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith ACM, Richter SF, Kondo I, et al (1991) Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet 49:1207-1218
-
(1991)
Am J Hum Genet
, vol.49
, pp. 1207-1218
-
-
Greenberg, F.1
Guzzetta, V.2
Montes De Oca-Luna, R.3
Magenis, R.E.4
Smith, A.C.M.5
Richter, S.F.6
Kondo, I.7
-
16
-
-
0029920807
-
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
-
Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, Murphy MA, et al (1996) Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am J Med Genet 62:247-254
-
(1996)
Am J Med Genet
, vol.62
, pp. 247-254
-
-
Greenberg, F.1
Lewis, R.A.2
Potocki, L.3
Glaze, D.4
Parke, J.5
Killian, J.6
Murphy, M.A.7
-
17
-
-
0026689228
-
Familial bilateral carpal tunnel syndrome: Report of two families
-
Leifer D, Cros D, Halperin JJ, Gallico GG, Pierce DS, Shahani BT (1992) Familial bilateral carpal tunnel syndrome: report of two families. Arch Phys Med Rehabil 73:393-397
-
(1992)
Arch Phys Med Rehabil
, vol.73
, pp. 393-397
-
-
Leifer, D.1
Cros, D.2
Halperin, J.J.3
Gallico, G.G.4
Pierce, D.S.5
Shahani, B.T.6
-
18
-
-
0027025971
-
An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A
-
Lupski JR (1992) An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A. Clin Res 40:645-652
-
(1992)
Clin Res
, vol.40
, pp. 645-652
-
-
Lupski, J.R.1
-
19
-
-
0030905270
-
Charcot-Marie-Tooth disease: A gene-dosage effect
-
Lupski JR (1997) Charcot-Marie-Tooth disease: a gene-dosage effect. Hosp Pract 32:83-122
-
(1997)
Hosp Pract
, vol.32
, pp. 83-122
-
-
Lupski, J.R.1
-
20
-
-
0031731487
-
Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human genetic disease traits
-
Lupski JR (1998a) Genomic disorders: structural features of the genome can lead to DNA rearrangements and human genetic disease traits. Trends Genet 14:417-422
-
(1998)
Trends Genet
, vol.14
, pp. 417-422
-
-
Lupski, J.R.1
-
21
-
-
0013623718
-
Molecular genetics of peripheral neuropathies
-
Martin JB (ed). Scientific American, New York
-
Lupski JR (1998b) Molecular genetics of peripheral neuropathies. In: Martin JB (ed) Scientific American molecular neurology. Scientific American, New York, pp 239-256
-
(1998)
Scientific American Molecular Neurology
, pp. 239-256
-
-
Lupski, J.R.1
-
22
-
-
0022449202
-
De novo partial duplication of 17p [dup(17)(p12→p11.2)]: Clinical report
-
Magenis RE, Brown MG, Allen L, Reiss J (1986) De novo partial duplication of 17p [dup(17)(p12→p11.2)]: clinical report. Am J Med Genet 24:415-420
-
(1986)
Am J Med Genet
, vol.24
, pp. 415-420
-
-
Magenis, R.E.1
Brown, M.G.2
Allen, L.3
Reiss, J.4
-
24
-
-
0023193224
-
Familial carpaltunnel syndrome presenting in childhood. Report of two cases
-
McDonnell JM, Makley JT, Horwitz SJ (1987) Familial carpaltunnel syndrome presenting in childhood. Report of two cases. J Bone Joint Surg Am 69:928-930
-
(1987)
J Bone Joint Surg Am
, vol.69
, pp. 928-930
-
-
McDonnell, J.M.1
Makley, J.T.2
Horwitz, S.J.3
-
26
-
-
0029793042
-
Charcot-Marie-Tooth disease and related inherited neuropathies
-
Murakami T, Garcia CA, Reiter LT, Lupski JR (1996) Charcot-Marie-Tooth disease and related inherited neuropathies. Medicine 75:233-250
-
(1996)
Medicine
, vol.75
, pp. 233-250
-
-
Murakami, T.1
Garcia, C.A.2
Reiter, L.T.3
Lupski, J.R.4
-
27
-
-
0030064551
-
Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy
-
Pellegrino JE, Pellegrino L, Spinner NB, Sladky J, Chance PF, Zackai EH (1996) Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy. Am J Med Genet 61:377-381
-
(1996)
Am J Med Genet
, vol.61
, pp. 377-381
-
-
Pellegrino, J.E.1
Pellegrino, L.2
Spinner, N.B.3
Sladky, J.4
Chance, P.F.5
Zackai, E.H.6
-
28
-
-
0027017033
-
Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
-
Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR (1992) Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet 2:292-300
-
(1992)
Nat Genet
, vol.2
, pp. 292-300
-
-
Pentao, L.1
Wise, C.A.2
Chinault, A.C.3
Patel, P.I.4
Lupski, J.R.5
-
29
-
-
0031972093
-
Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients
-
Reiter LT, Hastings PJ, Nelis E, De Jonghe P, Van Broeckhoven C, Lupski JR (1998) Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet 62:1023-1033
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1023-1033
-
-
Reiter, L.T.1
Hastings, P.J.2
Nelis, E.3
De Jonghe, P.4
Van Broeckhoven, C.5
Lupski, J.R.6
-
30
-
-
0030871024
-
The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs
-
Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR (1997) The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum Mol Genet 6:1595-1603
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1595-1603
-
-
Reiter, L.T.1
Murakami, T.2
Koeuth, T.3
Gibbs, R.A.4
Lupski, J.R.5
-
31
-
-
0029962292
-
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
-
Reiter IT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR (1996) A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet 12:288-297
-
(1996)
Nat Genet
, vol.12
, pp. 288-297
-
-
Reiter, I.T.1
Murakami, T.2
Koeuth, T.3
Pentao, L.4
Muzny, D.M.5
Gibbs, R.A.6
Lupski, J.R.7
-
32
-
-
13344249760
-
Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy
-
Roa BB, Greenberg F, Gunaratne P, Sauer CM, Lubinsky MS, Kozma C, Meek JM, et al (1996) Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy. Hum Genet 97:642-649
-
(1996)
Hum Genet
, vol.97
, pp. 642-649
-
-
Roa, B.B.1
Greenberg, F.2
Gunaratne, P.3
Sauer, C.M.4
Lubinsky, M.S.5
Kozma, C.6
Meek, J.M.7
-
33
-
-
0025073151
-
Trisomy 17p due to a t(8;17) (p23;p11.2)pat translocation: Case report and review of the literature
-
Schrander-Stumpel C, Schrander J, Fryns JP, Hamers G (1990) Trisomy 17p due to a t(8;17) (p23;p11.2)pat translocation: case report and review of the literature. Clin Genet 37: 148-152
-
(1990)
Clin Genet
, vol.37
, pp. 148-152
-
-
Schrander-Stumpel, C.1
Schrander, J.2
Fryns, J.P.3
Hamers, G.4
-
34
-
-
0027160691
-
Genetic syndromes and uniparental disomy: A study of 16 cases of Brachmann-de Lange syndrome
-
Shaffer LG, Overhauser J, Jackson LG, Ledbetter DH (1993) Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome. Am J Med Genet 47:383-386
-
(1993)
Am J Med Genet
, vol.47
, pp. 383-386
-
-
Shaffer, L.G.1
Overhauser, J.2
Jackson, L.G.3
Ledbetter, D.H.4
-
35
-
-
0031004203
-
Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory
-
Shaffer LG, Kennedy GM, Spikes AS, Lupski JR (1997) Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am J Med Genet 69:325-331
-
(1997)
Am J Med Genet
, vol.69
, pp. 325-331
-
-
Shaffer, L.G.1
Kennedy, G.M.2
Spikes, A.S.3
Lupski, J.R.4
-
36
-
-
0022543280
-
Interstitial deletion of (17)(p11.2p11.2) in nine patients
-
Smith ACM, McGavran L, Robinson J, Waldstein G, Macfarlane J, Zonona J, Reiss J, et al (1986) Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet 24: 393-414
-
(1986)
Am J Med Genet
, vol.24
, pp. 393-414
-
-
Smith, A.C.M.1
McGavran, L.2
Robinson, J.3
Waldstein, G.4
Macfarlane, J.5
Zonona, J.6
Reiss, J.7
-
38
-
-
0027269696
-
Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2→12
-
Upadhyaya M, Roberts SH, Farnham J, MacMillan JC, Clarke A, Heath JP, Hodges ICG, et al (1993) Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2→12. Hum Genet 91:392-394
-
(1993)
Hum Genet
, vol.91
, pp. 392-394
-
-
Upadhyaya, M.1
Roberts, S.H.2
Farnham, J.3
Macmillan, J.C.4
Clarke, A.5
Heath, J.P.6
Hodges, I.C.G.7
-
39
-
-
0031020696
-
Familial autosomal-dominant carpal tunnel syndrome presenting in a 5-year-old - Case report and review of the literature
-
Vadasz AG, Chance PF, Epstein LG, Lou J-S (1997) Familial autosomal-dominant carpal tunnel syndrome presenting in a 5-year-old - case report and review of the literature. Muscle Nerve 20:376-378
-
(1997)
Muscle Nerve
, vol.20
, pp. 376-378
-
-
Vadasz, A.G.1
Chance, P.F.2
Epstein, L.G.3
Lou, J.-S.4
-
40
-
-
0028987799
-
The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients
-
Zhao Z, Lee C-C, Jiralerspong S, Juyal RC, Lu F, Baldini A, Greenberg F, et al (1995) The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. Hum Mol Genet 4:589-597
-
(1995)
Hum Mol Genet
, vol.4
, pp. 589-597
-
-
Zhao, Z.1
Lee, C.-C.2
Jiralerspong, S.3
Juyal, R.C.4
Lu, F.5
Baldini, A.6
Greenberg, F.7
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