Detalhe da pesquisa
1.
Redefining the Etiologic Landscape of Cerebellar Malformations.
Am J Hum Genet
; 105(3): 606-615, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31474318
2.
Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region.
Am J Med Genet A
; 158A(9): 2139-51, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22847869
3.
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies.
Proc Natl Acad Sci U S A
; 106(29): 12031-6, 2009 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-19597142
4.
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.
BMC Genomics
; 10: 526, 2009 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-19917086
5.
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.
Am J Med Genet A
; 149A(11): 2469-78, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19842190
6.
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.
J Med Genet
; 44(4): 264-8, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17220210
7.
Pregnancy with uterine vascular malformations associated with hemorrhagic hereditary telangiectasia: a case report.
J Obstet Gynaecol Can
; 28(8): 720-723, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17022913
8.
Implications of the age range in a population-based BRCA1 testing program with eligibility based on family history of breast and ovarian cancer.
Genet Test
; 8(3): 229-34, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15727244
9.
The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height.
Eur J Med Genet
; 52(2-3): 101-7, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19298872
10.
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.
Am J Hum Genet
; 79(3): 500-13, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16909388
11.
Unusual segregation products in sperm from a pericentric inversion 17 heterozygote.
Hum Genet
; 117(4): 357-65, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15924233