Detalhe da pesquisa
1.
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
2.
A segmental maximum a posteriori approach to genome-wide copy number profiling.
Bioinformatics
; 24(6): 751-8, 2008 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18204059
3.
Somatic mosaicism for copy number variation in differentiated human tissues.
Hum Mutat
; 29(9): 1118-24, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18570184
4.
Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array.
Hum Mutat
; 29(3): 398-408, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18058796
5.
Distal 22q11.2 microduplication encompassing the BCR gene.
Am J Med Genet A
; 146A(23): 3075-81, 2008 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19006218
6.
A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients.
Am J Med Genet A
; 143A(24): 3302-8, 2007 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18000907
7.
Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter).
Am J Med Genet A
; 143A(15): 1760-6, 2007 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17603794
8.
Growth hormone overexpression in the central nervous system results in hyperphagia-induced obesity associated with insulin resistance and dyslipidemia.
Diabetes
; 54(1): 51-62, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15616010
9.
High-resolution profiling of an 11 Mb segment of human chromosome 22 in sporadic schwannoma using array-CGH.
Int J Oncol
; 22(3): 615-22, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12579316
10.
Characterization of novel and complex genomic aberrations in glioblastoma using a 32K BAC array.
Neuro Oncol
; 11(6): 803-18, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19304958
11.
Autoantibodies to glutathione S-transferase theta 1 in patients with primary sclerosing cholangitis and other autoimmune diseases.
J Autoimmun
; 30(4): 273-82, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18242955
12.
A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene.
Am J Med Genet A
; 143A(18): 2178-84, 2007 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17676630
13.
Gene expression profiling shows that macrophages derived from mouse embryonic stem cells is an improved in vitro model for studies of vascular disease.
Exp Cell Res
; 300(2): 335-44, 2004 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15474998
14.
Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus.
Neurogenetics
; 4(4): 173-7, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12836053
15.
Strong conservation of the human NF2 locus based on sequence comparison in five species.
Mamm Genome
; 14(8): 526-36, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12925885
16.
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications.
Hum Mol Genet
; 11(25): 3221-9, 2002 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12444106