Detalhe da pesquisa
1.
A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation family.
Am J Med Genet A;
164A(11): 2863-8, 2014 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25123480
2.
Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus.
J Med Genet;
49(6): 366-72, 2012 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22636604
3.
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.
Am J Hum Genet;
82(3): 763-71, 2008 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18304490
4.
Identification of copy number variants associated with BPES-like phenotypes.
Hum Genet;
124(5): 489-98, 2008 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18953567
5.
A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.
Eur J Med Genet;
51(5): 479-87, 2008.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18547887
6.
Interstitial duplication in the proximal long arm of chromosome 16.
Am J Med Genet A;
152A(7): 1858-61, 2010 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20583185
7.
Copy number variants in short children born small for gestational age.
Horm Res Paediatr;
82(5): 310-8, 2014.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25300501
8.
Copy number variants in patients with short stature.
Eur J Hum Genet;
22(5): 602-9, 2014 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24065112
9.
Molecular and clinical characterization of patients with a ring chromosome 11.
Eur J Med Genet;
55(12): 708-14, 2012 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22975011
10.
Molecular karyotyping: from microscope to SNP arrays.
Horm Res Paediatr;
76(3): 208-13, 2011.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21865676
11.
A 797 kb de novo deletion of 18q21.31 in a patient with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies.
Eur J Med Genet;
54(1): 86-8, 2011.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20870045
12.
Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation.
Eur J Med Genet;
54(4): e409-12, 2011.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21664500
13.
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
Eur J Hum Genet;
19(9): 959-64, 2011 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21522184
14.
Genome-wide SNP array analysis in patients with features of sotos syndrome.
Horm Res Paediatr;
73(4): 265-74, 2010.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20215773
15.
Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.
Eur J Med Genet;
53(5): 227-33, 2010.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20542150
16.
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.
Eur J Med Genet;
52(2-3): 108-15, 2009.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19328872
17.
A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.
Eur J Hum Genet;
17(11): 1394-402, 2009 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19436329