-
1
-
-
27244450998
-
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation
-
Koolen DA, Reardon W, Rosser EM et al: Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation. Eur J Hum Genet 2005; 13: 1019-1024.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 1019-1024
-
-
Koolen, D.A.1
Reardon, W.2
Rosser, E.M.3
-
3
-
-
0042329928
-
Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: Cytogenetic, molecular, and clinical analyses of 32 new observations
-
Luciani JJ, de Mas P, Depetris D et al: Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: Cytogenetic, molecular, and clinical analyses of 32 new observations. J Med Genet 2003; 40: 690-696.
-
(2003)
J Med Genet
, vol.40
, pp. 690-696
-
-
Luciani, J.J.1
de Mas, P.2
Depetris, D.3
-
4
-
-
3442888530
-
Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the autism spectrum
-
Manning MA, Cassidy SB, Clericuzio C et al: Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the autism spectrum. Pediatrics 2004; 114: 451-457.
-
(2004)
Pediatrics
, vol.114
, pp. 451-457
-
-
Manning, M.A.1
Cassidy, S.B.2
Clericuzio, C.3
-
6
-
-
0042828948
-
Molecular characterization of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
-
Wilson HL, Wong ACC, Shaw SR et al: Molecular characterization of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J Med Genet 2003; 40: 575-584.
-
(2003)
J Med Genet
, vol.40
, pp. 575-584
-
-
Wilson, H.L.1
Wong, A.C.C.2
Shaw, S.R.3
-
7
-
-
1642458249
-
22q13 deletion syndrome: An update and review for the primary pediatrician
-
Havens JM, Visootsak J, Phelan MC, Graham Jr JM: 22q13 deletion syndrome: An update and review for the primary pediatrician. Clin pediatr 2004; 43: 43-53.
-
(2004)
Clin pediatr
, vol.43
, pp. 43-53
-
-
Havens, J.M.1
Visootsak, J.2
Phelan, M.C.3
Graham Jr, J.M.4
-
8
-
-
0036590015
-
FISH-mapping of a 100-kb terminal 22q13 deletion
-
Anderlid BM, Schoumans J, Anneren G et al: FISH-mapping of a 100-kb terminal 22q13 deletion. Hum Genet 2002; 110: 439-443.
-
(2002)
Hum Genet
, vol.110
, pp. 439-443
-
-
Anderlid, B.M.1
Schoumans, J.2
Anneren, G.3
-
9
-
-
33750431676
-
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
-
Bonaglia MC, Giorda R, Mani E et al: Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. J Med Genet 2006; 43: 822-828.
-
(2006)
J Med Genet
, vol.43
, pp. 822-828
-
-
Bonaglia, M.C.1
Giorda, R.2
Mani, E.3
-
10
-
-
0031020786
-
Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation
-
Wong AC, Ning Y, Flint J et al: Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation. Am J Hum Genet 1997; 60: 113-120.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 113-120
-
-
Wong, A.C.1
Ning, Y.2
Flint, J.3
-
11
-
-
0034927366
-
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
-
Bonaglia MC, Giorda R, Borgatti R et al: Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Am J Hum Genet 2001; 69: 261-268.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 261-268
-
-
Bonaglia, M.C.1
Giorda, R.2
Borgatti, R.3
-
12
-
-
33845889998
-
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
-
Durand CM, Betancur C, Boeckers TM et al: Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 2007; 39: 25-27.
-
(2007)
Nat Genet
, vol.39
, pp. 25-27
-
-
Durand, C.M.1
Betancur, C.2
Boeckers, T.M.3
-
13
-
-
36749040875
-
Contribution of SHANK3 mutations to autism spectrum disorder
-
Moessner R, Marshall CR, Sutcliffe JS et al: Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet 2007; 81: 1289-1297.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 1289-1297
-
-
Moessner, R.1
Marshall, C.R.2
Sutcliffe, J.S.3
-
14
-
-
0024987807
-
-
Romain DR, Goldsmith J, Cairney H, Columbano-Green LM, Smythe RH, Parfitt RG: Partial monosomy for chromosome 22 in a patient with del(22)(pter - q13.1::Q13.33 - qter). J Med Genet 1990; 27: 588-589.
-
Romain DR, Goldsmith J, Cairney H, Columbano-Green LM, Smythe RH, Parfitt RG: Partial monosomy for chromosome 22 in a patient with del(22)(pter - q13.1::Q13.33 - qter). J Med Genet 1990; 27: 588-589.
-
-
-
-
15
-
-
0034729218
-
Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2)
-
Fujita Y, Mochizuki D, Mori Y et al: Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2). Am J Med Genet 2000; 92: 195-199.
-
(2000)
Am J Med Genet
, vol.92
, pp. 195-199
-
-
Fujita, Y.1
Mochizuki, D.2
Mori, Y.3
-
16
-
-
0028053136
-
Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3
-
Nesslinger NJ, Gorski JL, Kurczynski TW et al: Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3. Am J Hum Genet 1994; 54: 464-472.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 464-472
-
-
Nesslinger, N.J.1
Gorski, J.L.2
Kurczynski, T.W.3
-
17
-
-
0031663725
-
Cat eye syndrome chromosome breakpoint clIstering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints
-
McTaggart KE, Budarf ML, Driscoll DA, Emanuel BS, Ferreira P, McDermid HE: Cat eye syndrome chromosome breakpoint clIstering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints. Cytogenet Cell Genet 1998; 81: 222-228.
-
(1998)
Cytogenet Cell Genet
, vol.81
, pp. 222-228
-
-
McTaggart, K.E.1
Budarf, M.L.2
Driscoll, D.A.3
Emanuel, B.S.4
Ferreira, P.5
McDermid, H.E.6
-
18
-
-
0025260096
-
Systematic cloning of human minisatellites from ordered array charomid libraries
-
Armour JA, Povey S, Jeremiah S, Jeffreys AJ: Systematic cloning of human minisatellites from ordered array charomid libraries. Genomics 1990; 8: 501-512.
-
(1990)
Genomics
, vol.8
, pp. 501-512
-
-
Armour, J.A.1
Povey, S.2
Jeremiah, S.3
Jeffreys, A.J.4
-
21
-
-
20244383760
-
Microduplication and triplication of 22q11.2: A highly variable syndrome
-
Yobb TM, Somerville MJ, Willatt L et al: Microduplication and triplication of 22q11.2: A highly variable syndrome. Am J Hum Genet 2005; 76: 865-876.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 865-876
-
-
Yobb, T.M.1
Somerville, M.J.2
Willatt, L.3
-
23
-
-
0033554563
-
Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP/GKAP family
-
Boeckers TM, Winter C, Smalla KH et al: Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP/GKAP family. Biochem Biophys Res Commun 1999b; 264: 247-252.
-
(1999)
Biochem Biophys Res Commun
, vol.264
, pp. 247-252
-
-
Boeckers, T.M.1
Winter, C.2
Smalla, K.H.3
|