Detalhe da pesquisa
1.
14q22.3 duplication including OTX2 in a girl with medulloblastoma: A case report with literature review.
Am J Med Genet A
; 194(7): e63604, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38511879
2.
Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome.
Am J Med Genet A
; 191(2): 526-539, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36433683
3.
Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non-invasive prenatal screen positive for monosomy X.
Am J Med Genet C Semin Med Genet
; 184(2): 294-301, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32476283
4.
Algorithm-Driven Electronic Health Record Notification Enhances the Detection of Turner Syndrome.
J Pediatr
; 216: 227-231, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31635814
5.
Neonatal Lung Disease Associated with TBX4 Mutations.
J Pediatr
; 206: 286-292.e1, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30413314
6.
Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.
Am J Med Genet A
; 173(3): 647-653, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862945
7.
The Value of Chromosome Analysis to Interrogate Variants in DNMT3B Causing Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome Type I (ICF1).
J Clin Immunol
; 39(8): 857-859, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31686314
8.
Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships.
Genet Med
; 15(1): 70-8, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22858719
9.
Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49-51 deletion phenotype.
Mol Genet Genomic Med
; 11(1): e2088, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36424846
10.
Assessment of minimal residual disease in ewing sarcoma.
Sarcoma
; 2012: 780129, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22550426
11.
Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders.
Mol Cytogenet
; 15(1): 10, 2022 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35248119
12.
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center.
J Autism Dev Disord
; 52(11): 4828-4842, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34773222
13.
Aneuploid embryo transfer: clinical policies and provider opinions at United States fertility clinics.
Fertil Steril
; 114(1): 110-117, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32622405
14.
Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia.
Cancer Genet
; 243: 52-72, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32302940
15.
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Hum Genet
; 126(4): 589-602, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19557438
16.
Pharmacokinetics, metabolism, and excretion of torcetrapib, a cholesteryl ester transfer protein inhibitor, in humans.
Drug Metab Dispos
; 36(11): 2185-98, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18694908
17.
Undifferentiated myxoid lipoblastoma with PLAG1-HAS2 fusion in an infant; morphologically mimicking primitive myxoid mesenchymal tumor of infancy (PMMTI)--diagnostic importance of cytogenetic and molecular testing and literature review.
Cancer Genet
; 209(1-2): 21-9, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26701195
18.
Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.
Philos Trans R Soc Lond B Biol Sci
; 371(1710)2016 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-27821535
19.
Nonclinical Evaluation of PF-06438179: A Potential Biosimilar to Remicade® (Infliximab).
Adv Ther
; 33(11): 1964-1982, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27585978
20.
Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach.
J Cardiovasc Dev Dis
; 2(2): 76-92, 2015 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29371513