Detalhe da pesquisa
1.
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes.
Am J Med Genet A
; 194(3): e63462, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37929330
2.
The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development.
Am J Med Genet A
; 191(12): 2831-2836, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551848
3.
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Am J Med Genet A
; 188(12): 3516-3524, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35934918
4.
Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.
Muscle Nerve
; 55(2): 277-281, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27348394
5.
Osteopontin is linked with AKT, FoxO1, and myostatin in skeletal muscle cells.
Muscle Nerve
; 56(6): 1119-1127, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28745831
6.
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Am J Hum Genet
; 93(1): 29-41, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23768512
7.
Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study.
Ann Neurol
; 77(4): 684-96, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25641372
8.
A framework for the evaluation and reporting of incidental findings in clinical genomic testing.
Eur J Hum Genet
; 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565640
9.
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.
bioRxiv
; 2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38765987
10.
Development of a comprehensive genome-wide cardiovascular disease genetic risk assessment test.
medRxiv
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38766118
11.
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Eur J Hum Genet
; 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565639
12.
Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.
Am J Pathol
; 173(5): 1476-87, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18832576
13.
Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptoms.
Am J Med Genet A
; 149A(7): 1499-503, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19530190
14.
Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule.
Hum Mutat
; 29(5): 728-37, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18348289
15.
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Ann Clin Transl Neurol
; 5(12): 1574-1587, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30564623
16.
Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy.
Eur J Hum Genet
; 24(10): 1511-4, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26956251
17.
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
J Neuromuscul Dis
; 3(2): 209-225, 2016 05 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27854218
18.
SMN1 dosage analysis in spinal muscular atrophy from India.
BMC Med Genet
; 6: 22, 2005 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-15910686
19.
Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy patients from India.
Exp Mol Med
; 37(3): 147-54, 2005 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-16000867
20.
Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients.
J Neurol
; 252(6): 667-71, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15772743