Delwedd Flaen

OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivered using PGT

Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common autosomal dominant genetic diseases. Whole exome sequencing (WES) is a routine tool for diagnostic confirmation of genetic diseases, and it is usually performed to confirm the clinical diagnosis in ADP...

Disgrifiad llawn

Wedi'i Gadw mewn:

Manylion Llyfryddiaeth
Prif Awduron:	Peiwen Xu (Awdur), Lijuan Wang (Awdur), Jing Li (Awdur), Sexin Huang (Awdur), Ming Gao (Awdur), Ranran Kang (Awdur), Jie Li (Awdur), Hongqiang Xie (Awdur), Xiaowei Liu (Awdur), Junhao Yan (Awdur), Xuan Gao (Awdur), Yuan Gao (Awdur)
Fformat:	Llyfr
Cyhoeddwyd:	BMC, 2023-11-01T00:00:00Z.
Pynciau:	article
Mynediad Ar-lein:	Connect to this object online.
Tagiau:	Ychwanegu Tag Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg

A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report
gan: Peiwen Xu, et al.
Cyhoeddwyd: (2018)

Les OGM en questions Sciences, politique et droit
Cyhoeddwyd: (2013)

Cholelithiasis: WES Sign
gan: Hamid Ehsani-Nia, et al.
Cyhoeddwyd: (2017)

A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report
gan: Yuping Niu, et al.
Cyhoeddwyd: (2020)

The diagnostic yield of CGH and WES in neurodevelopmental disorders
gan: Raniah S. Alotibi, et al.
Cyhoeddwyd: (2023)

PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease
gan: Adamlje Anton, et al.
Cyhoeddwyd: (2006)

First Baby Born in Brazil after Simultaneous Diagnosis through Non-Invasive and Conventional PGT-A
gan: Marcos Iuri Roos Kulmann, et al.
Cyhoeddwyd: (2022)

Clinical outcomes of Preimplantation genetic testing (PGT) application in couples with chromosomal inversion, a study in the Chinese Han population
gan: Yuhan Shao, et al.
Cyhoeddwyd: (2020)

Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease
gan: Dechao Xu, et al.
Cyhoeddwyd: (2018)

A Successful Case for Deselection of Albino Embryo and Live Birth of Albinism-Free Healthy Baby Followed by PGT-M
gan: Nayana Patel, et al.
Cyhoeddwyd: (2020)

Design, Synthesis, and Biological Evaluation of PKD Inhibitors
gan: Marie-Céline Frantz, et al.
Cyhoeddwyd: (2011)

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome
gan: Slater Howard R, et al.
Cyhoeddwyd: (2005)

Aspetti biomolecolari della malattia renale policistica (PKD)
gan: C. Scolozzi
Cyhoeddwyd: (2018)

India's first child using PGT-M, PGT-A and HLA matching for helping a sibling having β-thalassemia major
gan: Jwal M Banker, et al.
Cyhoeddwyd: (2019)

Great Challenges Remain for niPGT-A Reliability
gan: Bruno Ramalho de Carvalho
Cyhoeddwyd: (2022)

Pre-implantation Genetic Testing for Aneuploidy (PGT-A)
gan: Wirawit Piyamongkol
Cyhoeddwyd: (2020)

Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction
gan: Wen-Bin He, et al.
Cyhoeddwyd: (2018)

Clinical Application of the PES/WES Index on Natural Teeth: Case Report and Literature Review
gan: Alessandro Lanza, et al.
Cyhoeddwyd: (2017)

Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease
gan: Xu Wang, et al.
Cyhoeddwyd: (2019)

Should non-invasive prenatal testing be recommended for patients who achieve pregnancy with PGT?
gan: Yunhao Liang, et al.
Cyhoeddwyd: (2024)

Kennis en houding van verpleegstudente aangaande VIGS in drie opleidingsinstansies in die, Wes-Kaap
gan: M. E. Bester, et al.
Cyhoeddwyd: (1996)

Determination of Susceptibility Breakpoint for Cefquinome against <i>Streptococcus suis</i> in Pigs
gan: Kun Mi, et al.
Cyhoeddwyd: (2021)

Exploration of Clinical Breakpoint of Danofloxacin for <i>Glaesserella parasuis</i> in Plasma and in PELF
gan: Zihui Xu, et al.
Cyhoeddwyd: (2021)

AMH independently predicts aneuploidy but not live birth per transfer in IVF PGT-A cycles
gan: Howard J. Li, et al.
Cyhoeddwyd: (2023)

Quattro nuove sezioni AIRP e la nascita di PKD International
gan: Luisa Sternfeld Pavia
Cyhoeddwyd: (2018)

Pattern of newborn babies delivered by cesarean section
gan: Guslihan D Tjipta, et al.
Cyhoeddwyd: (2016)

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)
gan: Gordon K C Leung, et al.
Cyhoeddwyd: (2018)

Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis
gan: Yi Gu, et al.
Cyhoeddwyd: (2020)

Implementation of a Breakpoint Halfway Discretization to Predict Jakarta's Air Quality
gan: Winoto Chandra, et al.
Cyhoeddwyd: (2022)

Challenging a dogma: antimicrobial susceptibility testing breakpoints for Mycobacterium tuberculosis
gan: Kristian Ängeby, et al.

VNTR polymorphism in the breakpoint region of ABL1 and susceptibility to bladder cancer
gan: Min-Hye Kim, et al.
Cyhoeddwyd: (2021)

Modification of PCR Conditions and Design of Exon-Specific Primers for the Efficient Molecular Diagnosis of PKD1 Mutations
gan: WeiQiang Liu, et al.
Cyhoeddwyd: (2014)

Preimplantation genetic testing (PGT) for hemophilia A: Experience from one center
gan: Thi Minh Phuong Bui, et al.
Cyhoeddwyd: (2022)

Can expelled cells/debris from a developing embryo be used for PGT?
gan: Adva Aizer, et al.
Cyhoeddwyd: (2021)

Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature
gan: Zilong Qiu, et al.
Cyhoeddwyd: (2022)

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population
gan: Nadine Jalkh, et al.
Cyhoeddwyd: (2019)

Changing times: The impact of gram-negative breakpoint changes over the previous decade
gan: Wes M. Johnson, et al.
Cyhoeddwyd: (2022)

Diabetes care cascade in Ukraine: an analysis of breakpoints and opportunities for improved diabetes outcomes
gan: Robyn Margaret Stuart, et al.
Cyhoeddwyd: (2020)

Pharmacokinetic/Pharmacodynamic Based Breakpoints of Polymyxin B for Bloodstream Infections Caused by Multidrug-Resistant Gram-Negative Pathogens
gan: Xingchen Bian, et al.
Cyhoeddwyd: (2022)

New mutations in the <it>PKD1 </it>gene in Czech population with autosomal dominant polycystic kidney disease
gan: Merta Miroslav, et al.
Cyhoeddwyd: (2009)