Search details
1.
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Am J Hum Genet
; 83(1): 106-11, 2008 Jul.
Article
in English
| MEDLINE | ID: mdl-18565486
2.
Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.
Am J Med Genet C Semin Med Genet
; 154C(2): 220-8, 2010 May 15.
Article
in English
| MEDLINE | ID: mdl-20425783
3.
BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome.
BMC Med Genet
; 7: 46, 2006 May 18.
Article
in English
| MEDLINE | ID: mdl-16709256
4.
Bilateral semilunar valve disease in a child with partial deletion of the Williams-Beuren syndrome region is associated with elastin haploinsufficiency.
J Heart Valve Dis
; 15(3): 352-5, 2006 May.
Article
in English
| MEDLINE | ID: mdl-16784071
5.
Blastopathies and microcephaly in a Chornobyl impacted region of Ukraine.
Congenit Anom (Kyoto)
; 54(3): 125-49, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24666273
6.
Down-regulation of replication factor C-40 (RFC40) causes chromosomal missegregation in neonatal and hypertrophic adult rat cardiac myocytes.
PLoS One
; 7(6): e39009, 2012.
Article
in English
| MEDLINE | ID: mdl-22720015
7.
Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.
PLoS One
; 5(8): e12349, 2010 Aug 31.
Article
in English
| MEDLINE | ID: mdl-20824207
8.
Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37.
Am J Med Genet A
; 134(3): 299-304, 2005 Apr 30.
Article
in English
| MEDLINE | ID: mdl-15742366
9.
Heat shock protein 27 gene: chromosomal and molecular location and relationship to Williams syndrome.
Am J Med Genet A
; 120A(3): 320-5, 2003 Jul 30.
Article
in English
| MEDLINE | ID: mdl-12838549
10.
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
Am J Med Genet A
; 123A(1): 45-59, 2003 Nov 15.
Article
in English
| MEDLINE | ID: mdl-14556246
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