Detalles de la búsqueda
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38015437
2.
NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote Osteoporosis.
Mol Cell;
68(4): 645-658.e5, 2017 Nov 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-29149593
3.
Cause, severity, and efficacy of treatment for hearing loss in children with Trisomy 18: A single institution-based retrospective study.
Am J Med Genet A;
194(4): e63492, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38062644
4.
Suspected malnutrition-induced reversible feline skin fragility syndrome in a cat with congenital axial deformities.
Can Vet J;
65(3): 227-233, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38434166
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37353357
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36189931
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34815299
8.
The detailed obstetric course of the first Japanese patient with AEBP1-related Ehlers-Danlos syndrome (classical-like EDS, type 2).
J Obstet Gynaecol Res;
49(3): 1043-1047, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36600409
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35842784
10.
Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes.
Am J Physiol Cell Physiol;
323(6): C1843-C1859, 2022 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35993517
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35067677
12.
Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7.
Am J Med Genet A;
188(1): 350-356, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34558790
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35822426
14.
Systematic investigation of the skin in Chst14-/- mice: A model for skin fragility in musculocontractural Ehlers-Danlos syndrome caused by CHST14 variants (mcEDS-CHST14).
Glycobiology;
31(2): 137-150, 2021 02 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32601684
15.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34031513
16.
Detailed clinical and radiological features of the first patient with Elsahy-Waters syndrome in East Asia.
Am J Med Genet A;
185(12): 3909-3915, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34278706
17.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33884742
18.
Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities.
Adv Exp Med Biol;
1348: 235-249, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34807422
19.
Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan.
J Hum Genet;
65(12): 1045-1053, 2020 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-32661284
20.
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
Am J Med Genet A;
182(5): 994-1007, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32091183