Detalhe da pesquisa
1.
Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis.
Am J Med Genet A
; 185(4): 1222-1227, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415784
2.
Bone Marrow-derived Cells Contribute to the Pathogenesis of Pulmonary Arterial Hypertension.
Am J Respir Crit Care Med
; 193(8): 898-909, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26651104
3.
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Am J Med Genet A
; 161A(8): 1833-52, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23813913
4.
Collaborative efforts to improve genetic testing in the neonatal intensive care unit.
J Perinatol
; 43(12): 1500-1505, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37914812
5.
Tnni3k modifies disease progression in murine models of cardiomyopathy.
PLoS Genet
; 5(9): e1000647, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19763165
6.
Distinct Patterns of Clonal Evolution Drive Myelodysplastic Syndrome Progression to Secondary Acute Myeloid Leukemia.
Blood Cancer Discov
; 3(4): 316-329, 2022 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35522837
7.
Acquisition of aneuploidy drives mutant p53-associated gain-of-function phenotypes.
Nat Commun
; 12(1): 5184, 2021 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34465782
8.
Institutional Training Opportunities for PhD Students in Laboratory Medicine: An Unmet Career Development Need?
J Appl Lab Med
; 5(2): 412-416, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32445389
9.
A quantitative trait locus (LSq-1) on mouse chromosome 7 is linked to the absence of tissue loss after surgical hindlimb ischemia.
Circulation
; 117(9): 1207-15, 2008 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-18285563
10.
Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome.
Mol Genet Genomic Med
; 7(9): e837, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31400086
11.
A unique evolution of the kidney phenotype in a patient with autosomal recessive Alport syndrome.
Hum Pathol
; 81: 229-234, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29530752
12.
Limited Utility of Fluorescence In Situ Hybridization for Recurrent Abnormalities in Acute Myeloid Leukemia at Diagnosis and Follow-up.
Am J Clin Pathol
; 149(5): 418-424, 2018 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29538617
13.
Association of hereditary prostate cancer gene polymorphic variants with sporadic aggressive prostate carcinoma.
Prostate
; 66(1): 49-56, 2006 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16114055
14.
QTL mapping in a mouse model of cardiomyopathy reveals an ancestral modifier allele affecting heart function and survival.
Mamm Genome
; 16(6): 414-23, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16075368