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1.
Patients Tested at a Laboratory for Hereditary Cancer Syndromes Show an Overlap for Multiple Syndromes in Their Personal and Familial Cancer Histories.
Oncology
; 89(5): 288-93, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26315041
2.
Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer.
Cancer
; 120(7): 963-7, 2014 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-24415441
3.
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Am J Hum Genet
; 86(3): 454-61, 2010 Mar 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-20206336
4.
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Hum Genet
; 131(1): 145-56, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21800092
5.
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
Hum Mol Genet
; 18(8): 1377-83, 2009 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-19193630
6.
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.
Genet Med
; 13(10): 868-80, 2011 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-21792059
7.
Duplication of the STS region in males is a benign copy-number variant.
Am J Med Genet A
; 155A(8): 1972-5, 2011 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-21739574
8.
Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.
Am J Med Genet A
; 155A(12): 3110-5, 2011 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-22065534
9.
Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.
Am J Med Genet A
; 155A(7): 1646-53, 2011 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-21671386
10.
aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.
Am J Med Genet A
; 149A(5): 914-8, 2009 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-19353629
11.
Chronic Ankle Instability Leads to Lower Extremity Kinematic Changes During Landing Tasks: A Systematic Review.
Int J Exerc Sci
; 12(1): 24-33, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30761190
12.
Prenatal diagnosis using array CGH.
Methods Mol Biol
; 444: 59-69, 2008.
Artículo
en Inglés
| MEDLINE | ID: mdl-18425472
13.
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
Genet Med
; 9(9): 607-16, 2007 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-17873649
14.
Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes.
J Community Genet
; 8(2): 87-95, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28050887
15.
Comparative genomic hybridization by microarray for the detection of cytogenetic imbalance.
Methods Mol Med
; 128: 23-31, 2006.
Artículo
en Inglés
| MEDLINE | ID: mdl-17071987
16.
Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure.
Eur J Hum Genet
; 13(2): 139-49, 2005 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-15483646
17.
Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases.
J Community Genet
; 6(4): 351-9, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25782689
18.
Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes.
J Exp Clin Cancer Res
; 33: 74, 2014 Sep 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-25204323
19.
Disorders caused by chromosome abnormalities.
Appl Clin Genet
; 3: 159-74, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-23776360
20.
Diagnosis of cryptic chromosomal syndromes by fluorescence in situ hybridization (FISH).
Curr Protoc Hum Genet
; Chapter 8: Unit 8.10.1-20, 2010 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-20891031