-
1
-
-
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, Odelberg SJ, Disteche CM, Bird TD (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
Odelberg, S.J.8
Disteche, C.M.9
Bird, T.D.10
-
2
-
-
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 Molec Genet 3:223-228.
-
(1994)
Hum Molec 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
-
3
-
-
0028815790
-
The human homologue of the Drosophila melanogaster flightless-1 gene (fli1) maps within the Smith-Magenis microdeletion critical region in 17p11.2
-
Chen K-S, Gunaratne PH, Hoheisel JD, Young IG, Miklos GLG, Greenberg F, Shaffer LG, Campbell HD, Lupski JR (1995): The human homologue of the Drosophila melanogaster flightless-1 gene (fli1) 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
Miklos, G.L.G.5
Greenberg, F.6
Shaffer, L.G.7
Campbell, H.D.8
Lupski, J.R.9
-
4
-
-
0027325844
-
Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions: SnU3 may be a candidate gene for the Smith-Magenis syndrome
-
Chevillard C, Paslier DL, Passage E, Ougen P, Billaut A, Boyer S, Mazan S, Bachellerie JP, Vingal A, Cohen D, Fontes M (1993): Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions: snU3 may be a candidate gene for the Smith-Magenis syndrome. Hum Molec Genet 2:1235-1243.
-
(1993)
Hum Molec Genet
, vol.2
, pp. 1235-1243
-
-
Chevillard, C.1
Paslier, D.L.2
Passage, E.3
Ougen, P.4
Billaut, A.5
Boyer, S.6
Mazan, S.7
Bachellerie, J.P.8
Vingal, A.9
Cohen, D.10
Fontes, M.11
-
5
-
-
0025218940
-
Five cases demonstrating the distinctive behavioral features of chromosome deletion 17 (p11.2p11.2) (Smith-Magenis syndrome)
-
Colley AF, Leversha MA, Voullaire LE, Rogers JG (1990): Five cases demonstrating the distinctive behavioral features of chromosome deletion 17 (p11.2p11.2) (Smith-Magenis syndrome). J Pediatr Child Health 26:17-21.
-
(1990)
J Pediatr Child Health
, vol.26
, pp. 17-21
-
-
Colley, A.F.1
Leversha, Ma.2
Voullaire, L.E.3
Rogers, J.G.4
-
6
-
-
0028875314
-
Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome
-
Elsea SH, Juyal RC, Jiralerspong S, Finucane BM, Pandolfo M, Greenberg F, Baldini A, Stover P, Patel PI (1995): Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome. Am J Hum Genet 57:1342-1350.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1342-1350
-
-
Elsea, S.H.1
Juyal, R.C.2
Jiralerspong, S.3
Finucane, B.M.4
Pandolfo, M.5
Greenberg, F.6
Baldini, A.7
Stover, P.8
Patel, P.I.9
-
7
-
-
0027509150
-
Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome
-
Finucane BM, Jaeger ER, Kurtz MB, Weinstein M, Scott CI (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.5
-
8
-
-
0028123806
-
The spasmodic upper-body squeeze: A characteristic behavior in Smith-Magenis syndrome
-
Finucane BM, Konar D, Haas-Givler, Kurtz MB, Scott CI (1994): The spasmodic upper-body squeeze: a characteristic behavior in Smith-Magenis syndrome. Dev Med Child Neurol 36:70-83.
-
(1994)
Dev Med Child Neurol
, vol.36
, pp. 70-83
-
-
Finucane, B.M.1
Konar, D.2
Haas-Givler3
Kurtz, M.B.4
Scott, C.I.5
-
9
-
-
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, Dobyns WB, Patel PI, Lupski JR (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
De Montes Oca-Luna, R.3
Magenis, R.E.4
Smith, A.C.M.5
Richter, S.F.6
Kondo, I.7
Dobyns, W.B.8
Patel, P.I.9
Lupski, J.R.10
-
10
-
-
0026764342
-
Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p
-
Guzzeta V, Franco B, Trask BJ, Zhang H, Saucedo-Cardenas O, Montes de Oca-Luna R, Greenberg F, Chinault AC, Lupski JR, Patel PI (1992): Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p. Genomics 13:551-559.
-
(1992)
Genomics
, vol.13
, pp. 551-559
-
-
Guzzeta, V.1
Franco, B.2
Trask, B.J.3
Zhang, H.4
Saucedo-Cardenas, O.5
De Montes Oca-Luna, R.6
Greenberg, F.7
Chinault, A.C.8
Lupski, J.R.9
Patel, P.I.10
-
11
-
-
0027081368
-
Physical ordering of three polymorphic DNA markers spanning the regions containing a tumor suppressor gene of renal cell carcinoma by three-color fluorescent in situ hybridization
-
Inazawa J, Ariyama T, Abe T (1992): Physical ordering of three polymorphic DNA markers spanning the regions containing a tumor suppressor gene of renal cell carcinoma by three-color fluorescent in situ hybridization. Jpn J Cancer Res 83:1248-1252.
-
(1992)
Jpn J Cancer Res
, vol.83
, pp. 1248-1252
-
-
Inazawa, J.1
Ariyama, T.2
Abe, T.3
-
12
-
-
0027209470
-
High-resolution cytogenetic mapping of 342 new cosmid markers including 43 RFLP markers on human chromosome 17 by fluorescence in situ hybridization
-
Inazawa J, Saito H, Ariyama T, Abe T, Nakamura Y (1993): High-resolution cytogenetic mapping of 342 new cosmid markers including 43 RFLP markers on human chromosome 17 by fluorescence in situ hybridization. Genomics 17:153-162.
-
(1993)
Genomics
, vol.17
, pp. 153-162
-
-
Inazawa, J.1
Saito, H.2
Ariyama, T.3
Abe, T.4
Nakamura, Y.5
-
13
-
-
0027363767
-
High resolution ordering of DNA markers by multi-color fluorescent in situ hybridization of prophase chromosomes
-
Inazawa J, Ariyama T, Tokino T, Tanigami A, Nakamura Y, Abe T (1994): High resolution ordering of DNA markers by multi-color fluorescent in situ hybridization of prophase chromosomes. Cytogenet Cell Genet 65:130-135.
-
(1994)
Cytogenet Cell Genet
, vol.65
, pp. 130-135
-
-
Inazawa, J.1
Ariyama, T.2
Tokino, T.3
Tanigami, A.4
Nakamura, Y.5
Abe, T.6
-
14
-
-
0025955356
-
Diagnostic hand anomalies in Smith-Magenis syndrome: Four new patients with del(17)(p11.2p11.2)
-
Kondo I, Matsuura S, Kuwajima K, Tokashiki M, Izumikawa Y, Naritomi K, Niikawa N, Kajii T (1991): Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del(17)(p11.2p11.2). Am J Med Genet 41:225-229.
-
(1991)
Am J Med Genet
, vol.41
, pp. 225-229
-
-
Kondo, I.1
Matsuura, S.2
Kuwajima, K.3
Tokashiki, M.4
Izumikawa, Y.5
Naritomi, K.6
Niikawa, N.7
Kajii, T.8
-
15
-
-
0030067218
-
The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2
-
Koyama K., Fukushima Y., Inazawa J., Tomotsune D., Takahashi N., Nakamura Y (1996): The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2. Cytogenet Cell Genet 72:78-82.
-
(1996)
Cytogenet Cell Genet
, vol.72
, pp. 78-82
-
-
Koyama, K.1
Fukushima, Y.2
Inazawa, J.3
Tomotsune, D.4
Takahashi, N.5
Nakamura, Y.6
-
16
-
-
0013015004
-
Molecular Cytogenetics: Interface of cytogenetics and monogenic disorders
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds) New York: McGraw Hill, pp
-
Ledbetter DH, Cavenee WK (1989): Molecular Cytogenetics: interface of cytogenetics and monogenic disorders. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds) "The Metabolic Basis of Inherited Disease," 6th ed. New York: McGraw Hill, pp 343-371.
-
(1989)
The Metabolic Basis of Inherited Disease," 6th Ed.
, pp. 343-371
-
-
Ledbetter, D.H.1
Cavenee, W.K.2
-
17
-
-
0024309491
-
Molecular dissection of a contiguous gene syndrome: Frequent submicroscopic deletions, evolutionary conserved sequences, and a hypomethylated "island" in the Miller-Dicker chromosome region
-
Ledbetter DH, Ledbetter SA, van Tuinen P, Summers KM, Robinson TJ, Nakamura Y, Wolff R, White R, Barker DF, Wallance MR, Collins FS, Dobyns WB (1989): Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionary conserved sequences, and a hypomethylated "island" in the Miller-Dicker chromosome region. Proc Natl Acad Sci USA 86:5136-5140.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 5136-5140
-
-
Ledbetter, D.H.1
Ledbetter, S.A.2
Van Tuinen, P.3
Summers, K.M.4
Robinson, T.J.5
Nakamura, Y.6
Wolff, R.7
White, R.8
Barker, D.F.9
Wallance, M.R.10
Collins, F.S.11
Dobyns, W.B.12
-
18
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, O'Connell P, Chance PF (1991): DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219-232.
-
(1991)
Cell
, vol.66
, pp. 219-232
-
-
Lupski, J.R.1
De Montes Oca-Luna, R.2
Slaugenhaupt, S.3
Pentao, L.4
Guzzetta, V.5
Trask, B.J.6
Saucedo-Cardenas, O.7
Barker, D.F.8
O'Connell, P.9
Chance, P.F.10
-
19
-
-
0029972575
-
Chromosome mapping of human (ZNF179), mouse and rat genes for brain finger protein (bfp), a member of the RING finger family
-
Matsuda Y, Inoue S, Seki N, Hosoi T, Orimo A, Muramatsu M, Hori T (1996): Chromosome mapping of human (ZNF179), mouse and rat genes for brain finger protein (bfp), a member of the RING finger family. Genomics 33:325-327.
-
(1996)
Genomics
, vol.33
, pp. 325-327
-
-
Matsuda, Y.1
Inoue, S.2
Seki, N.3
Hosoi, T.4
Orimo, A.5
Muramatsu, M.6
Hori, T.7
-
20
-
-
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. Nature Genet 2:292-300.
-
(1992)
Nature 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
-
21
-
-
0025997898
-
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT1a)
-
Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA, Van Brocheckhoven C, the HMSN Collaborative Research Group (1991): Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). Neuromusc Disord 1:93-97.
-
(1991)
Neuromusc Disord
, vol.1
, pp. 93-97
-
-
Raeymaekers, P.1
Timmerman, V.2
Nelis, E.3
De Jonghe, P.4
Hoogendijk, J.E.5
Baas, F.6
Barker, D.F.7
Martin, J.J.8
De Visser, M.9
Bolhuis, P.A.10
Van Brocheckhoven, C.11
-
22
-
-
0028970501
-
Genetic homozygosity in Sjögren-Larsson syndrome: Linkage to chromosome 17p in families of Different non-Swedish ethnic origins
-
Rogers G R, Rizzo W B, Zlotogorski A, Hashem N, Lee M, Compton J G, Bale SJ (1995): Genetic homozygosity in Sjögren-Larsson syndrome: Linkage to chromosome 17p in families of Different non-Swedish ethnic origins. Am J Hum Genet 57:1123-1129.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1123-1129
-
-
Rogers, G.R.1
Rizzo, W.B.2
Zlotogorski, A.3
Hashem, N.4
Lee, M.5
Compton, J.G.6
Bale, S.J.7
-
23
-
-
0022477656
-
Interstitial deletion of (17)(p11.2p11.2): Report of six additional patients with a new chromosome deletion syndrome
-
Smith ACM, McGavran L, Robinson J, Waldstein G, Macfarlane J, Zonona J, Reiss J, Lahr M, Allen L, Magenis E (1986): Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. Am J Med Genet 24:421-432.
-
(1986)
Am J Med Genet
, vol.24
, pp. 421-432
-
-
Smith, A.C.M.1
McGavran, L.2
Robinson, J.3
Waldstein, G.4
Macfarlane, J.5
Zonona, J.6
Reiss, J.7
Lahr, M.8
Allen, L.9
Magenis, E.10
-
24
-
-
0027374931
-
Molecular analysis of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication
-
Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR (1993): Molecular analysis of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication. Am J Hum Genet 53:853-863.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 853-863
-
-
Wise, C.A.1
Garcia, C.A.2
Davis, S.N.3
Heju, Z.4
Pentao, L.5
Patel, P.I.6
Lupski, J.R.7
-
25
-
-
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, Caskey CT, Patel PI (1995): The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. Hum Molec Genet 4-4:589-597.
-
(1995)
Hum Molec Genet
, vol.4
, Issue.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
Caskey, C.T.8
Patel, P.I.9
-
26
-
-
0027381005
-
Clinical, cytogenetic and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion
-
Zori RT, Lupski JR, Heju Z, Greenberg F, Killian JM, Gray BA, Driscoll DJ, Patel PI, Zackowski JL (1993): Clinical, cytogenetic and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. Am J Med Genet 47:504-511.
-
(1993)
Am J Med Genet
, vol.47
, pp. 504-511
-
-
Zori, R.T.1
Lupski, J.R.2
Heju, Z.3
Greenberg, F.4
Killian, J.M.5
Gray, B.A.6
Driscoll, D.J.7
Patel, P.I.8
Zackowski, J.L.9
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