Detalhe da pesquisa
1.
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
Am J Hum Genet
; 110(6): 989-997, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37167966
2.
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Am J Hum Genet
; 109(9): 1713-1723, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35948005
3.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
J Med Genet
; 61(2): 132-141, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580113
4.
Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease.
BMC Genomics
; 25(1): 371, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38627676
5.
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Hum Genet
; 143(5): 649-666, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538918
6.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Am J Hum Genet
; 108(11): 2130-2144, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34653363
7.
Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis.
Lung
; 202(2): 151-156, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38461429
8.
Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.
Proc Natl Acad Sci U S A
; 118(19)2021 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33941690
9.
Early role for a Na+,K+-ATPase (ATP1A3) in brain development.
Proc Natl Acad Sci U S A
; 118(25)2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161264
10.
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report.
Genet Mol Biol
; 47(1): e20220335, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38593426
11.
Disease progression in Sanfilippo type B: Case series of Brazilian patients.
Genet Mol Biol
; 47(1): e20230285, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38488524
12.
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
J Transl Med
; 21(1): 410, 2023 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37353797
13.
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Mol Genet Metab
; 140(1-2): 107715, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37907381
14.
Cytokine profiling in patients with hepatic glycogen storage disease: Are there clues for unsolved aspects?
Cytokine
; 162: 156088, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36462220
15.
A pilot randomised controlled trial on the effectiveness of infant massage on the acceptance, commitment and awareness of influence in parents of babies with Down syndrome.
J Intellect Disabil Res
; 67(1): 35-48, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36253339
16.
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
Genet Med
; 24(4): 894-904, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35042660
17.
De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype.
Am J Med Genet A
; 188(3): 919-925, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34797033
18.
Vaginal stenosis in women with cervical or endometrial cancer after pelvic radiotherapy: a cross-sectional study of vaginal measurements, risk for sexual dysfunction and quality of life.
Int Urogynecol J
; 33(3): 637-649, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33891152
19.
Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.
Neurol Sci
; 43(7): 4473-4481, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35175440
20.
Noncompliance to iodine supplementation recommendation is a risk factor for iodine insufficiency in Portuguese pregnant women: results from the IoMum cohort.
J Endocrinol Invest
; 45(10): 1865-1874, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35635644