Detalhe da pesquisa
1.
De Novo Noninversion Variants Implicated in Sporadic Hemophilia A: A Variant Origin and Timing Study.
Int J Mol Sci
; 25(3)2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38339041
2.
Origin and timing of de novo variants implicated in type 2 von Willebrand disease.
J Cell Mol Med
; 26(21): 5403-5413, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36226571
3.
Preimplantation genetic diagnosis of hemophilia A.
Thromb J
; 14(Suppl 1): 33, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27766059
4.
De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD.
Thromb J
; 14(Suppl 1): 36, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27766062
5.
Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a positive NIPT result suspicious of trisomy 13, a CVS result of mosaic trisomy 13, cytogenetic discrepancy in various tissues and a favorable fetal outcome.
Taiwan J Obstet Gynecol
; 62(4): 577-581, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37407198
6.
Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients.
Diagnostics (Basel)
; 12(10)2022 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36291957
7.
Molecular cytogenetic characterization of a de novo small supernumerary marker chromosome derived from chromosome 15 in a pregnancy with incidental detection of a maternal Robertsonian translocation of 45,XX,der(13;14) (q10;q10).
Taiwan J Obstet Gynecol
; 61(1): 132-134, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35181023
8.
Prenatal diagnosis and molecular cytogenetic characterization of a familial small supernumerary marker chromosome derived from the acrocentric chromosome 14/22.
Taiwan J Obstet Gynecol
; 61(2): 364-367, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35361403
9.
Preimplantation Genetic Diagnosis in Hereditary Hearing Impairment.
Diagnostics (Basel)
; 11(12)2021 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34943631
10.
Prenatal Diagnosis of True Fetal Mosaicism with Small Supernumerary Marker Chromosome Derived from Chromosome 16 by Funipuncture and Molecular Cytogenetics Including Chromosome Microarray.
Diagnostics (Basel)
; 11(8)2021 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34441391
11.
Low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome.
Taiwan J Obstet Gynecol
; 60(2): 345-349, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33678340
12.
Prenatal diagnosis of partial monosomy 21q (21q22.1âqter) associated with intrauterine growth restriction and corpus callosum dysgenesis.
Taiwan J Obstet Gynecol
; 59(1): 157-161, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32039787
13.
Whole Exome Sequencing with Comprehensive Gene Set Analysis Identified a Biparental-Origin Homozygous c.509G>A Mutation in PPIB Gene Clustered in Two Taiwanese Families Exhibiting Fetal Skeletal Dysplasia during Prenatal Ultrasound.
Diagnostics (Basel)
; 10(5)2020 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32392875
14.
Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the AGT Gene.
Diagnostics (Basel)
; 9(4)2019 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31718018
15.
Preimplantation Genetic Diagnosis of Neurodegenerative Diseases: Review of Methodologies and Report of Our Experience as a Regional Reference Laboratory.
Diagnostics (Basel)
; 9(2)2019 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31018485
16.
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 11.
Taiwan J Obstet Gynecol
; 56(3): 394-397, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28600058
17.
Detection of paternal uniparental disomy 9 in a neonate with prenatally detected mosaicism for a small supernumerary marker chromosome 9 and a supernumerary ring chromosome 9.
Taiwan J Obstet Gynecol
; 56(4): 527-533, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28805612
18.
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 21q11.2-q21.1 and a literature review.
Taiwan J Obstet Gynecol
; 56(4): 554-557, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28805618
19.
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 2.
Taiwan J Obstet Gynecol
; 56(2): 234-237, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28420515
20.
A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby.
Am J Med Genet A
; 155A(4): 931-4, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21416587