-
1
-
-
0022543280
-
Interstitial deletion of (17)(p11.2p11.2) in nine patients
-
Smith AC, McGavran L, Robinson J, Waldstein G, Macfarlane J, Zonona J, Reiss J, Lahr M, Allen L, Magenis E. Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet 1986;24:393-414.
-
(1986)
Am J Med Genet
, vol.24
, pp. 393-414
-
-
Smith, A.C.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
-
2
-
-
0025875443
-
Smith-Magenis syndrome: A new contiguous gene syndrome. Report of three new cases
-
Moncla A, Livet MO, Auger M, Mattei JF, Mattei MG, Giraud F. Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases. J Med Genet 1991;28:627-32.
-
(1991)
J Med Genet
, vol.28
, pp. 627-632
-
-
Moncla, A.1
Livet, M.O.2
Auger, M.3
Mattei, J.F.4
Mattei, M.G.5
Giraud, F.6
-
4
-
-
0031429540
-
Definition of the critical interval for Smith-Magenis syndrome
-
Elsea SH, Purandare SM, Adell RA, Juyal RC, Davis JG, Finucane B, Magenis RE, Patel PI. Definition of the critical interval for Smith-Magenis syndrome. Cytogenet Cell Genet 1997;79:276-81.
-
(1997)
Cytogenet Cell Genet
, vol.79
, pp. 276-281
-
-
Elsea, S.H.1
Purandare, S.M.2
Adell, R.A.3
Juyal, R.C.4
Davis, J.G.5
Finucane, B.6
Magenis, R.E.7
Patel, P.I.8
-
5
-
-
0036099554
-
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse
-
Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res 2002;12:713-28.
-
(2002)
Genome Res
, vol.12
, pp. 713-728
-
-
Bi, W.1
Yan, J.2
Stankiewicz, P.3
Park, S.S.4
Walz, K.5
Boerkoel, C.F.6
Potocki, L.7
Shaffer, L.G.8
Devriendt, K.9
Nowaczyk, M.J.10
Inoue, K.11
Lupski, J.R.12
-
6
-
-
25144519604
-
Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to around 650 kb
-
Schoumans J, Staaf J, Jonsson G, Rantala J, Zimmer KS, Borg A, Nordenskjold M, Anderlid BM. Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to around 650 kb. Eur J Med Genet 2005;48:290-300.
-
(2005)
Eur J Med Genet
, vol.48
, pp. 290-300
-
-
Schoumans, J.1
Staaf, J.2
Jonsson, G.3
Rantala, J.4
Zimmer, K.S.5
Borg, A.6
Nordenskjold, M.7
Anderlid, B.M.8
-
7
-
-
0344177207
-
Mutations in RAI1 associated with Smith-Magenis syndrome
-
Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH. Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet 2003;33:466-8.
-
(2003)
Nat Genet
, vol.33
, pp. 466-468
-
-
Slager, R.E.1
Newton, T.L.2
Vlangos, C.N.3
Finucane, B.4
Elsea, S.H.5
-
8
-
-
8444228597
-
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome
-
Bi W, Saifi GM, Shaw CJ, Walz K, Fonseca P, Wilson M, Potocki L, Lupski JR. Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum Genet 2004;115:515-24.
-
(2004)
Hum Genet
, vol.115
, pp. 515-524
-
-
Bi, W.1
Saifi, G.M.2
Shaw, C.J.3
Walz, K.4
Fonseca, P.5
Wilson, M.6
Potocki, L.7
Lupski, J.R.8
-
9
-
-
27744540813
-
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions
-
Girirajan S, Elsas LJ 2nd, Devriendt K, Elsea SH. RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet 2005;42:820-8.
-
(2005)
J Med Genet
, vol.42
, pp. 820-828
-
-
Girirajan, S.1
Elsas 2nd, L.J.2
Devriendt, K.3
Elsea, S.H.4
-
10
-
-
9244229940
-
Hidden Markov models approach to the analysis of array CGH data
-
Fridlyand J, Snijders A, Pinkel D, Albertson D, Jain A. Hidden Markov models approach to the analysis of array CGH data. J Multivar Anal 2004;90:132-53.
-
(2004)
J Multivar Anal
, vol.90
, pp. 132-153
-
-
Fridlyand, J.1
Snijders, A.2
Pinkel, D.3
Albertson, D.4
Jain, A.5
-
11
-
-
0344466705
-
Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]
-
Potocki L, Shaw CJ, Stankiewicz P, Lupski JR. Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med 2003;5:430-4.
-
(2003)
Genet Med
, vol.5
, pp. 430-434
-
-
Potocki, L.1
Shaw, C.J.2
Stankiewicz, P.3
Lupski, J.R.4
-
12
-
-
33748130455
-
Genotype-phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum
-
Girirajan S, Vlangos CN, Szomju BB, Edelman E, Trevors CD, Dupuis L, Nezarati M, Bunyan DJ, Elsea SH. Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med 2006;8:417-27.
-
(2006)
Genet Med
, vol.8
, pp. 417-427
-
-
Girirajan, S.1
Vlangos, C.N.2
Szomju, B.B.3
Edelman, E.4
Trevors, C.D.5
Dupuis, L.6
Nezarati, M.7
Bunyan, D.J.8
Elsea, S.H.9
-
13
-
-
10744232167
-
A genome-wide scan for loci predisposing to non-syndromic cleft lip with or without cleft palate in two large Syrian families
-
Wyszynski DF, Albacha-Hejazi H, Aldirani M, Hammod M, Shkair H, Karam A, Alashkar J, Holmes TN, Pugh EW, Doheny KF, McIntosh I, Beaty TH, Bailey-Wilson JE. A genome-wide scan for loci predisposing to non-syndromic cleft lip with or without cleft palate in two large Syrian families. Am J Med Genet A 2003;123:140-7.
-
(2003)
Am J Med Genet A
, vol.123
, pp. 140-147
-
-
Wyszynski, D.F.1
Albacha-Hejazi, H.2
Aldirani, M.3
Hammod, M.4
Shkair, H.5
Karam, A.6
Alashkar, J.7
Holmes, T.N.8
Pugh, E.W.9
Doheny, K.F.10
McIntosh, I.11
Beaty, T.H.12
Bailey-Wilson, J.E.13
-
14
-
-
0033365195
-
Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1
-
Sertie AL, Sousa AV, Steman S, Pavanello RC, Passos-Bueno MR. Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1. Am J Hum Genet 1999;65:433-40.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 433-440
-
-
Sertie, A.L.1
Sousa, A.V.2
Steman, S.3
Pavanello, R.C.4
Passos-Bueno, M.R.5
-
15
-
-
2942756226
-
The ubiquitin-proteasome pathway
-
Roos-Mattjus P, Sistonen L. The ubiquitin-proteasome pathway. Ann Med 2004;36:285-95.
-
(2004)
Ann Med
, vol.36
, pp. 285-295
-
-
Roos-Mattjus, P.1
Sistonen, L.2
-
16
-
-
7244260495
-
Alzheimer's disease meets the ubiquitin-proteasome system
-
Song S, Jung YK. Alzheimer's disease meets the ubiquitin-proteasome system. Trends Mol Med 2004;10:565-70.
-
(2004)
Trends Mol Med
, vol.10
, pp. 565-570
-
-
Song, S.1
Jung, Y.K.2
-
17
-
-
0035184651
-
MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation
-
Trockenbacher A, Suckow V, Foerster J, Winter J, Krauss S, Ropers HH, Schneider R, Schweiger S. MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Nat Genet 2001;29:287-94.
-
(2001)
Nat Genet
, vol.29
, pp. 287-294
-
-
Trockenbacher, A.1
Suckow, V.2
Foerster, J.3
Winter, J.4
Krauss, S.5
Ropers, H.H.6
Schneider, R.7
Schweiger, S.8
-
18
-
-
2342556426
-
Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and cooperates with Mid1 to bundle and stabilize microtubules
-
Berti C, Fontanella B, Ferrentino R, Meroni G. Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and cooperates with Mid1 to bundle and stabilize microtubules. BMC Cell Biol 2004;5:9.
-
(2004)
BMC Cell Biol
, vol.5
, pp. 9
-
-
Berti, C.1
Fontanella, B.2
Ferrentino, R.3
Meroni, G.4
-
19
-
-
8044247810
-
UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome
-
Pizzuti A, Novelli G, Ratti A, Amati F, Mari A, Calabrese G, Nicolis S, Silani V, Marino B, Scarlato G, Ottolenghi S, Dallapiccola B. UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum Mol Genet 1997;6:259-65.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 259-265
-
-
Pizzuti, A.1
Novelli, G.2
Ratti, A.3
Amati, F.4
Mari, A.5
Calabrese, G.6
Nicolis, S.7
Silani, V.8
Marino, B.9
Scarlato, G.10
Ottolenghi, S.11
Dallapiccola, B.12
-
20
-
-
0035812287
-
Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L)
-
Botta A, Tandoi C, Fini G, Calabrese G, Dallapiccola B, Novelli G. Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L). Gene 2001;275:39-46.
-
(2001)
Gene
, vol.275
, pp. 39-46
-
-
Botta, A.1
Tandoi, C.2
Fini, G.3
Calabrese, G.4
Dallapiccola, B.5
Novelli, G.6
-
21
-
-
0035196538
-
22q11. 2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes
-
Cuneo BF. 22q11. 2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes, Curr Opin Pediatr 2001;13:465-72.
-
(2001)
Curr Opin Pediatr
, vol.13
, pp. 465-472
-
-
Cuneo, B.F.1
-
22
-
-
33749069523
-
SUMO1 haploinsufficiency leads to cleft lip and palate
-
Alkuraya FS, Saadi I, Lund JJ, Turbe-Doan A, Morton CC, Maas RL. SUMO1 haploinsufficiency leads to cleft lip and palate. Science 2006;313:1751.
-
(2006)
Science
, vol.313
, pp. 1751
-
-
Alkuraya, F.S.1
Saadi, I.2
Lund, J.J.3
Turbe-Doan, A.4
Morton, C.C.5
Maas, R.L.6
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