Detalhe da pesquisa
1.
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
Nucleic Acids Res
; 52(1): 114-124, 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38015437
2.
Suspected malnutrition-induced reversible feline skin fragility syndrome in a cat with congenital axial deformities.
Can Vet J
; 65(3): 227-233, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38434166
3.
Homozygous splice site variant affecting the first von Willebrand factor A domain of COL12A1 in a patient with myopathic Ehlers-Danlos syndrome.
Am J Med Genet A
; 191(10): 2631-2639, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37353357
4.
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.
Am J Med Genet A
; 191(1): 37-51, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36189931
5.
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
J Med Genet
; 59(9): 865-877, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34815299
6.
Clinical and pathophysiological delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient.
Hum Mutat
; 43(12): 1829-1836, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842784
7.
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing.
J Hum Genet
; 67(7): 387-392, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35067677
8.
Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.
Am J Med Genet A
; 188(9): 2560-2575, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35822426
9.
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.
J Hum Genet
; 66(11): 1121-1126, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34031513
10.
Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.
Am J Med Genet A
; 185(7): 2175-2179, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33884742
11.
PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.
Am J Med Genet A
; 179(6): 948-957, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30941898
12.
Peripartum Iliac Arterial Aneurysm and Rupture in a Patient with Vascular Ehlers-Danlos Syndrome Diagnosed by Next-Generation Sequencing.
Int Heart J
; 59(5): 1180-1185, 2018 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30158381
13.
[Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B6].
Rinsho Ketsueki
; 59(4): 401-406, 2018.
Artigo
em Japonês
| MEDLINE | ID: mdl-29743399
14.
Postnatal intracerebral hemorrhage with hereditary hemorrhagic telangiectasia.
Pediatr Int
; 64(1): e15333, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331238
15.
Efficacy of Denosumab for Osteoporosis in Three Female Patients with Osteogenesis Imperfecta.
Tohoku J Exp Med
; 242(2): 115-120, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28626166
16.
Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
Am J Med Genet A
; 170A(2): 322-328, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26481852
17.
A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.
J Clin Endocrinol Metab
; 109(3): 750-760, 2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37804107
18.
Racemization of the aspartic acid residue of amyloid-ß peptide by a radical reaction.
Biosci Biotechnol Biochem
; 77(2): 416-8, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23391937
19.
Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers-Danlos Syndrome Using Induced Pluripotent Stem Cells.
Genes (Basel)
; 14(3)2023 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36981001
20.
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1.
Neurol Genet
; 9(1): e200047, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36530220