Detalhe da pesquisa
1.
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Genet Med
; 24(7): 1583-1591, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35499524
2.
The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.
Am J Med Genet A
; 170(9): 2416-20, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27338032
3.
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Front Pediatr
; 12: 1349519, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38440187
4.
Reduction in Newborn Screening False Positive Results Following a New Collection Protocol: a Quality Improvement Project.
J Pediatr Pharmacol Ther
; 26(7): 723-727, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34588936
5.
Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers.
Mol Genet Genomic Med
; 8(2): e1049, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31880413
6.
Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?
Nutrients
; 11(11)2019 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31731404
7.
De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia.
Am J Med Genet A
; 146A(4): 453-8, 2008 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18203189
8.
Adoptees' Pursuit of Genomic Testing to Fill Gaps in Family Health History and Reduce Healthcare Disparity.
Narrat Inq Bioeth
; 8(2): 131-135, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30220696
9.
Can untreated PKU patients escape from intellectual disability? A systematic review.
Orphanet J Rare Dis
; 13(1): 149, 2018 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30157945
10.
Chromosome 2q37 deletion: clinical and molecular aspects.
Am J Med Genet C Semin Med Genet
; 145C(4): 357-71, 2007 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17910077
11.
Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.
J Child Neurol
; 20(5): 449-52, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15971356
12.
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.
Mitochondrion
; 9(5): 340-5, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19501198
13.
Mitochondrial myopathy and sideroblastic anemia.
Am J Med Genet A
; 125A(2): 201-4, 2004 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-14981724
14.
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).
Am J Hum Genet
; 74(6): 1303-8, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15108122
15.
Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33.
Am J Med Genet A
; 127A(1): 44-49, 2004 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15103716
16.
Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals.
Am J Med Genet A
; 130A(4): 331-9, 2004 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15386475