Cargando…

Case Report: Prenatal Whole-Exome Sequencing to Identify a Novel Heterozygous Synonymous Variant in NIPBL in a Fetus With Cornelia de Lange Syndrome

Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder characterized by a wide spectrum of abnormalities, including craniofacial dysmorphism, upper limb anomalies, pre- and post-natal growth restrictions, hirsutism and intellectual disability. Approximately 60% of cases are caused...

Descripción completa

Detalles Bibliográficos
Autores principales:	Qiao, Fengchang, Zhang, Cuiping, Wang, Yan, Liu, Gang, Shao, Binbin, Hu, Ping, Xu, Zhengfeng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7900548/ https://www.ncbi.nlm.nih.gov/pubmed/33633789 http://dx.doi.org/10.3389/fgene.2021.628890

Ejemplares similares

Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome
por: Krawczynska, Natalia, et al.
Publicado: (2018)

Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome
por: Shi, Meizhen, et al.
Publicado: (2022)

Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients
por: Peng, Ying, et al.
Publicado: (2021)

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome
por: Kuzniacka, Alina, et al.
Publicado: (2012)

Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report
por: Park, Kyung-Hee, et al.
Publicado: (2010)

De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome
por: Thanh, Duong Chi, et al.
Publicado: (2020)

Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual
por: Wierzba, Jolanta, et al.
Publicado: (2012)

Erratum to: Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome
por: Kuzniacka, Alina, et al.
Publicado: (2013)

Nucleotide sequence analysis of NIPBL gene in Indian Cornelia de Lange syndrome cases
por: Bajaj, Shailesh, et al.
Publicado: (2013)

Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation
por: Mende, Rose H., et al.
Publicado: (2012)

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome
por: Teresa-Rodrigo, María E., et al.
Publicado: (2016)

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
por: Latorre-Pellicer, Ana, et al.
Publicado: (2021)

A Novel de Novo Variant in 5′ UTR of the NIPBL Associated with Cornelia de Lange Syndrome
por: Chen, Yonghua, et al.
Publicado: (2022)

Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion
por: Panarotto, Melanie, et al.
Publicado: (2022)

Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole‐exome sequencing
por: Zhou, Xiaoyan, et al.
Publicado: (2020)

Multifactorial Origins of Heart and Gut Defects in nipbl-Deficient Zebrafish, a Model of Cornelia de Lange Syndrome
por: Muto, Akihiko, et al.
Publicado: (2011)

Multiple Organ System Defects and Transcriptional Dysregulation in the Nipbl (+/−) Mouse, a Model of Cornelia de Lange Syndrome
por: Kawauchi, Shimako, et al.
Publicado: (2009)

Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts
por: Pistocchi, A, et al.
Publicado: (2013)

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome
por: Teresa-Rodrigo, María E., et al.
Publicado: (2014)

Obstructive Sleep Apnea in a Patient with Cornelia de Lange Syndrome
por: Mashaqi, Saif, et al.
Publicado: (2017)

Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF
por: Nolen, Leisha D., et al.
Publicado: (2013)

Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients
por: Krawczynska, Natalia, et al.
Publicado: (2019)

Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome
por: Garcia, Patricia, et al.
Publicado: (2021)

A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing
por: Qiao, Fengchang, et al.
Publicado: (2019)

Cornelia de lange syndrome
por: Tayebi, Naeimeh
Publicado: (2008)

Cornelia de Lange syndrome
por: Reddy, H. Babul, et al.
Publicado: (2013)

A New Mutation Identified by Whole Exome Sequencing in a Cornelia de Lange Syndrome Newborn
por: Zhang, Hua, et al.
Publicado: (2018)

Prenatal Diagnosis of Recurrent Distal 1q21.1 Duplication in Three Fetuses With Ultrasound Anomalies
por: Ji, Xiuqing, et al.
Publicado: (2018)

A Case of Cornelia de Lange Syndrome: Difficulty in Prenatal Diagnosis
por: Kinjo, Tadatsugu, et al.
Publicado: (2019)

Identification of a novel de novo mutation in the NIPBL gene in an Iranian patient with Cornelia de Lange syndrome: A case report
por: Galehdari, Hamid, et al.
Publicado: (2011)

Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11
por: Latorre‐Pellicer, Ana, et al.
Publicado: (2021)

The Added Value of Whole-Exome Sequencing for Anomalous Fetuses With Detailed Prenatal Ultrasound and Postnatal Phenotype
por: He, Miao, et al.
Publicado: (2021)

The Cornelia de Lange Syndrome-associated factor NIPBL interacts with BRD4 ET domain for transcription control of a common set of genes
por: Luna-Peláez, Noelia, et al.
Publicado: (2019)

The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome
por: Newkirk, Daniel A., et al.
Publicado: (2017)

Parenchymal Organ Changes in Two Female Patients With Cornelia de Lange Syndrome: Autopsy Case Report
por: Mangelov, Martin, et al.
Publicado: (2020)

Dental Findings in Cornelia De Lange Syndrome
por: Toker, Aslihan Soyal, et al.
Publicado: (2009)

Cornelia De Lange Syndrome and Cochlear Implantation
por: Psillas, George, et al.
Publicado: (2018)

Cornelia de Lange Syndrome as Paradigm of Chromatinopathies
por: Parenti, Ilaria, et al.
Publicado: (2021)

Neuropsychiatric manifestations in Cornelia de Lange syndrome
por: Majdoub, F., et al.
Publicado: (2023)

Cornelia De-Lange Syndrome: A Case Report
por: Mehta, Diana Noshir, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_995cgsr3asmqi6suf5ctt9kgnt