Detalhe da pesquisa
1.
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Am J Hum Genet
; 101(6): 1021-1033, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220674
2.
Three-Year Follow-Up of a Prenatally Ascertained Apparently Non-Mosaic sSMC(10): Delineation of a Non-Critical Region.
Cytogenet Genome Res
; 147(4): 209-11, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26974471
3.
Intrachromosomal 3p insertion as a cause of reciprocal pure interstitial deletion and duplication in two siblings: further delineation of the emerging proximal 3p deletion syndrome.
Cytogenet Genome Res
; 144(4): 290-3, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25720458
4.
Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.
Am J Hum Genet
; 87(1): 129-38, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20598279
5.
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.
Hum Genet
; 131(3): 513-23, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21975797
6.
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.
Hum Mol Genet
; 18(10): 1795-804, 2009 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19246517
7.
MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension.
Sci Rep
; 11(1): 1583, 2021 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33452295
8.
Direct tandem duplication in chromosome 19q characterized by array CGH.
Eur J Med Genet
; 51(3): 257-63, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18342596
9.
Complex chromosome 8;21 translocation with associated hyperdiploidy in acute myeloid leukemia (FAB-M2).
Pediatr Blood Cancer
; 50(3): 651-4, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17405156
10.
De novo duplication and deletions at 7q in a three-generation family.
Am J Med Genet A
; 158A(6): 1493-7, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22577094
11.
Detection of abnormalities of PRV-1, TPO, and c-MPL genes detected by fluorescence in situ hybridization in essential thrombocythemia.
Cancer Genet Cytogenet
; 167(1): 39-42, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16682284
12.
Publisher Correction: MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension.
Sci Rep
; 11(1): 8237, 2021 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33837244
13.
Insertion (8;11) in a renal oncocytoma with multifocal transformation to chromophobe renal cell carcinoma.
Cancer Genet Cytogenet
; 163(2): 160-3, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16337860
14.
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
Eur J Med Genet
; 57(9): 503-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24874887
15.
Blast cells with nuclear extrusions in the form of micronuclei are associated with MYC amplification in acute myeloid leukemia.
Cancer Genet Cytogenet
; 185(1): 32-6, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18656691
16.
Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis.
Am J Med Genet A
; 143A(10): 1108-13, 2007 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17431916
17.
Methotrexate resistance in vitro is achieved by a dynamic selectionprocess of tumor cell variants emerging during treatment.
Int J Cancer
; 119(7): 1607-15, 2006 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16671091
18.
Deletion of TET2 gene in an acute myeloid leukemia case with a t(4;15)(q24;q26) characterized by glass needle based chromosome microdissection and oligonucleotide array.
Leuk Res
; 35(9): e161-3, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21684005