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■関連PubMed/MEDLINE情報

関連PubMed/MEDLINE情報

合計出現文献数:

314

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略語:

WFTB

展開形:

Wannier-function-based tight-binding

アレイ比較ゲノムハイブリダイゼーション

No.
発表年
題目
共起略語

1

2025

A novel PRDM13 gene duplication causing congenital North Carolina macular dystrophy phenotype in a Mexican family.
ERG, FAF, NCMD, NGS, OCT, qPCR

2

2025

Case-based learning: a case of maturity-onset diabetes of the young 5 (MODY5) due to 17q12 microdeletion with a diminished plasma glucagon level.
MLPA, MODY5, MODY5

3

2025

Correlation among blastocoel fluid DNA level, apoptotic genes expression and preimplantation aneuploidy.
BF, BF-DNA, FSDA, MA, RT-qPCR, SE, cfDNA

4

2025

Genomic landscape of childhood acute lymphoblastic leukemia in Malaysia: insights from array-CGH.
ALL, CNVs, VUS

5

2024

Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?
FISH, OR

6

2024

Robertsonian Translocation between Human Chromosomes 21 and 22, Inherited across Three Generations, without Any Phenotypic Effect.
---

7

2024

Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder.
ASD, CNVs, WES

8

2023

A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations.
WES

9

2023

Autism and duplication of 17q12q21.2 by array-CGH: a case report.
ASD, CNVs

10

2023

Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay-Does both possibly act to modulate a candidate gene region for the patient's phenotype?
---

11

2023

Case report: Familial case with autism spectrum and bipolar disorder showing a 20q11.21 microduplication including TM9SF4.
ADI-R, ADOS-2, AQ, ASD, AdAS Spectrum, BD-I, BD-II, ID, SCID-5

12

2023

Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid.
CF, WGA

13

2023

New Insights in 9q21.13 Microdeletion Syndrome: Genotype-Phenotype Correlation of 28 Patients.
---

14

2023

Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature.
ABRs, IHC, NGS, OAEs, TS-ANSD

15

2023

The incidence and clinical characteristics of fragile X syndrome in China.
ADHD, CNVs, DQ, FXS, IQ, NDD, WES

16

2022

A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies.
AD, NEDDFSA, WES

17

2022

Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes.
ADHD, ASD, CNVs

18

2022

Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30kb undetected by array-CGH.
CNVs, DD, ID, WES, XHMM

19

2022

Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia.
CDH, CNVs

20

2022

Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan.
ACMG, ASD, CNVs, ISCA, SNP

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