Detalles de la búsqueda
1.
Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.
Am J Med Genet A
; 182(4): 813-822, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31913574
2.
Partial 5p Deletion and Partial 5q Duplication in a Patient with Multiple Congenital Anomalies: A Two-Step Mechanism in Chromosomal Rearrangement Mediated by Non-Allelic Homologous Recombination.
Cytogenet Genome Res
; 156(2): 65-70, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30286452
3.
Targeting BTK with ibrutinib in relapsed or refractory mantle-cell lymphoma.
N Engl J Med
; 369(6): 507-16, 2013 Aug 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-23782157
4.
The Genomic Landscape of PAX5, IKZF1, and CDKN2A/B Alterations in B-Cell Precursor Acute Lymphoblastic Leukemia.
Cytogenet Genome Res
; 150(3-4): 242-252, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-28214896
5.
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
Genome Res
; 21(1): 33-46, 2011 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21205869
6.
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Hum Mol Genet
; 20(22): 4360-70, 2011 Nov 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-21865298
7.
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Am J Hum Genet
; 84(6): 780-91, 2009 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-19500772
8.
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots.
Psychiatr Genet
; 32(5): 171-177, 2022 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35837682
9.
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
Am J Hum Genet
; 82(1): 214-21, 2008 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-18179902
10.
Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.
Am J Med Genet A
; 152A(5): 1111-26, 2010 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-20340098
11.
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Hum Genet
; 126(4): 589-602, 2009 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-19557438
12.
Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses.
Genet Med
; 10(4): 278-89, 2008 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-18414211
13.
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.
Genet Med
; 10(4): 267-77, 2008 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-18414210
14.
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.
Am J Med Genet A
; 146A(19): 2480-9, 2008 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-18666230
15.
De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23).
Am J Med Genet A
; 146A(15): 1986-93, 2008 Aug 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-18627051
16.
Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.
Mol Cytogenet
; 10: 24, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28649281
17.
Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay.
Am J Med Genet A
; 155A(10): 2589-92, 2011 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-21910221
18.
Peroxisome-proliferator-activated receptor-gamma (PPARgamma) activation protects neurons from NMDA excitotoxicity.
Brain Res
; 1073-1074: 460-9, 2006 Feb 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-16442504
19.
Neuronal expression of peroxisome proliferator-activated receptor-gamma (PPARgamma) and 15d-prostaglandin J2--mediated protection of brain after experimental cerebral ischemia in rat.
Brain Res
; 1096(1): 196-203, 2006 Jun 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-16725118
20.
Wheel-running modestly promotes functional recovery after a unilateral cortical lesion in rats.
Behav Neurol
; 16(1): 41-9, 2005.
Artículo
en Inglés
| MEDLINE | ID: mdl-16082079