-
1
-
-
0018137411
-
The Cri du Chat syndrome: Epidemiology, cytogenetics, and clinical features
-
Niebuhr E. The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet 1978: 44 (3): 227-275.
-
(1978)
Hum. Genet.
, vol.44
, Issue.3
, pp. 227-275
-
-
Niebuhr, E.1
-
2
-
-
0030667045
-
Correlates of maladaptive behaviour in individuals with 5p-(cri du chat) syndrome
-
Dykens EM, Clarke DJ. Correlates of maladaptive behaviour in individuals with 5p-(cri du chat) syndrome. Dev Med Child Neurol 1997: 39 (11): 752-756.
-
(1997)
Dev. Med. Child Neurol.
, vol.39
, Issue.11
, pp. 752-756
-
-
Dykens, E.M.1
Clarke, D.J.2
-
3
-
-
0028947055
-
Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features
-
Church DM, Bengtsson U, Nielsen KV et al. Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. Am J Hum Genet 1995: 56 (5): 1162-1172.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, Issue.5
, pp. 1162-1172
-
-
Church, D.M.1
Bengtsson, U.2
Nielsen, K.V.3
-
4
-
-
0035078603
-
Clinical and molecular characterisation of 80 patients with 5p deletion: Genotype-phenotype correlation
-
Mainardi PC, Perfumo C, Cali A et al. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet 2001: 38 (3): 151-158.
-
(2001)
J. Med. Genet.
, vol.38
, Issue.3
, pp. 151-158
-
-
Mainardi, P.C.1
Perfumo, C.2
Cali, A.3
-
5
-
-
0036178579
-
A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome
-
Collins MS, Cornish K. A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome. J Intellect Disabil Res 2002: 46 (2): 133-140.
-
(2002)
J. Intellect. Disabil. Res.
, vol.46
, Issue.2
, pp. 133-140
-
-
Collins, M.S.1
Cornish, K.2
-
6
-
-
0028054658
-
Molecular and phenotypic mapping of the short arm of chromosome 5: Sublocalization of the critical region for the cri-du-chat syndrome
-
Overhauser J, Huang X, Gersh M et al. Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. Hum Mol Genet 1994: 3 (2): 247-252.
-
(1994)
Hum. Mol. Genet.
, vol.3
, Issue.2
, pp. 247-252
-
-
Overhauser, J.1
Huang, X.2
Gersh, M.3
-
7
-
-
0344131998
-
Variability in a family with an insertion involving 5p
-
Marinescu RC, Mamunes P, Kline AD et al. Variability in a family with an insertion involving 5p. Am J Med Genet 1999: 86 (3): 258-263.
-
(1999)
Am. J. Med. Genet.
, vol.86
, Issue.3
, pp. 258-263
-
-
Marinescu, R.C.1
Mamunes, P.2
Kline, A.D.3
-
8
-
-
0030884218
-
A high-resolution physical and transcript map of the Cri du chat region of human chromosome 5p
-
Church DM, Yang J, Bocian M et al. A high-resolution physical and transcript map of the Cri du chat region of human chromosome 5p. Genome Res 1997: 7 (8): 787-801.
-
(1997)
Genome Res.
, vol.7
, Issue.8
, pp. 787-801
-
-
Church, D.M.1
Yang, J.2
Bocian, M.3
-
9
-
-
10744226995
-
Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q
-
Gunn SR, Mohammed M, Reveles XT et al. Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q. Am J Med Genet 2003: 120A (1): 127-135.
-
(2003)
Am. J. Med. Genet.
, vol.120 A
, Issue.1
, pp. 127-135
-
-
Gunn, S.R.1
Mohammed, M.2
Reveles, X.T.3
-
10
-
-
0030498237
-
FISH detection of chromosome polymorphism and deletions in the spinal muscular atrophy (SMA) region of 5q13
-
Rajcan-Separovic E, Mahadevan MS, Lefebvre C et al. FISH detection of chromosome polymorphism and deletions in the spinal muscular atrophy (SMA) region of 5q13. Cytogenet Cell Genet 1996: 75 (4): 243-247.
-
(1996)
Cytogenet. Cell Genet.
, vol.75
, Issue.4
, pp. 243-247
-
-
Rajcan-Separovic, E.1
Mahadevan, M.S.2
Lefebvre, C.3
-
11
-
-
0028063348
-
A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome
-
Goodart SA, Simmons AD, Grady D et al. A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome. Genomics 1994: 24 (1): 63-68.
-
(1994)
Genomics
, vol.24
, Issue.1
, pp. 63-68
-
-
Goodart, S.A.1
Simmons, A.D.2
Grady, D.3
-
12
-
-
0027968086
-
Case reports of autism with interstitial deletion of chromosome 17 (p11.2p11.2) and monosomy of chromosome 5 (5pter->5 p15.3)
-
Vostanis P, Harrington R, Prendergast M et al. Case reports of autism with interstitial deletion of chromosome 17 (p11.2p11.2) and monosomy of chromosome 5 (5pter->5 p15.3). Psychiatr Genet 1994: 4 (2): 109-111.
-
(1994)
Psychiatr. Genet.
, vol.4
, Issue.2
, pp. 109-111
-
-
Vostanis, P.1
Harrington, R.2
Prendergast, M.3
-
13
-
-
0041320945
-
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan Fryns syndrome
-
Stathopulu E, Ogilvie M, Flinter FA. Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan Fryns syndrome. Am J Med Genet 2003: 119A: 363-366.
-
(2003)
Am. J. Med. Genet.
, vol.119 A
, pp. 363-366
-
-
Stathopulu, E.1
Ogilvie, M.2
Flinter, F.A.3
-
14
-
-
0020633044
-
Clinical heterogeneity in 80 home reared children with Cri du Chat syndrome
-
Wilkins LE, Bron JA, Nance WE, Wolf B. Clinical heterogeneity in 80 home reared children with Cri du Chat syndrome. J Pediatrics 1983: 102: 528-533.
-
(1983)
J. Pediatrics
, vol.102
, pp. 528-533
-
-
Wilkins, L.E.1
Bron, J.A.2
Nance, W.E.3
Wolf, B.4
-
16
-
-
0031589004
-
Prediction of the coding sequences of unidentified human genes. VII. The complete sequences 100 new cDNA clones from brain which can code for large proteins in vitro
-
Nagase T, Ishikawa K, Nakajima D et al. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res 1997: 4 (2): 141-150.
-
(1997)
DNA Res.
, vol.4
, Issue.2
, pp. 141-150
-
-
Nagase, T.1
Ishikawa, K.2
Nakajima, D.3
-
17
-
-
1942476904
-
Detection of deletions in de novo balanced chromosome rearrangements: Further evidence for their role in phenotypic abnormalities
-
Astbury C, Christ L, Aughton D et al. Detection of deletions in de novo balanced chromosome rearrangements: further evidence for their role in phenotypic abnormalities. Genet Med 2004: 6: 81-89.
-
(2004)
Genet. Med.
, vol.6
, pp. 81-89
-
-
Astbury, C.1
Christ, L.2
Aughton, D.3
-
18
-
-
4444238226
-
Elucidation of a cryptic 7q31.1 deletion in a patient with a language disorder and mild mental retardation
-
Tyson C, McGillivray B, Chiewa C, Rajcan-Separovic E. Elucidation of a cryptic 7q31.1 deletion in a patient with a language disorder and mild mental retardation. Am J Med Genet 2004: 129A (3): 254-260.
-
(2004)
Am. J. Med. Genet.
, vol.129 A
, Issue.3
, pp. 254-260
-
-
Tyson, C.1
McGillivray, B.2
Chiewa, C.3
Rajcan-Separovic, E.4
-
19
-
-
0037677609
-
Definition of a critical region on chromosome 18 for congenital aural atresia by array CGH
-
Veltman JA, Jonkers Y, Nuijten I et al. Definition of a critical region on chromosome 18 for congenital aural atresia by array CGH. Am J Hum Genet 2003: 72 (6): 1578-1584.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, Issue.6
, pp. 1578-1584
-
-
Veltman, J.A.1
Jonkers, Y.2
Nuijten, I.3
-
20
-
-
11144356173
-
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
-
Shaw-Smith C, Redon R, Rickman L et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 2004: 41 (4): 241-248.
-
(2004)
J. Med. Genet.
, vol.41
, Issue.4
, pp. 241-248
-
-
Shaw-Smith, C.1
Redon, R.2
Rickman, L.3
-
21
-
-
9144240478
-
Array-based comparative genomic hybridization for the genome-wide detection of submicroscopic chromosomal abnormalities
-
Vissers LE, de Vries BB, Osoegawa K et al. Array-based comparative genomic hybridization for the genome-wide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 2003: 73 (6): 1261-1270.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, Issue.6
, pp. 1261-1270
-
-
Vissers, L.E.1
de Vries, B.B.2
Osoegawa, K.3
-
22
-
-
2942746722
-
Prader-Willi syndrome resulting from an unbalanced translocation: Characterization by array comparative genomic hybridization
-
Klein OD, Cotter PD, Albertson DG et al. Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization. Clin Genet 2004: 65 (6): 477-482.
-
(2004)
Clin. Genet.
, vol.65
, Issue.6
, pp. 477-482
-
-
Klein, O.D.1
Cotter, P.D.2
Albertson, D.G.3
|