Cargando…

Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia

Detalles Bibliográficos
Autores principales:	Brajadenta, Gara Samara, Utari, Agustini, Patri, Sylvie, Bilan, Frédéric, Faradz, Sultana Muhammad Hussein, Kitzis, Alain, Thoreau, Vincent
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Society for Laboratory Medicine 2019
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6502942/ https://www.ncbi.nlm.nih.gov/pubmed/31037873 http://dx.doi.org/10.3343/alm.2019.39.5.503

Ejemplares similares

Plasma renin activity profile of patients with congenital adrenal hyperplasia in Semarang, Indonesia: a preliminary study
por: Ariani, Mahayu Dewi, et al.
Publicado: (2013)

Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report
por: Brajadenta, Gara Samara, et al.
Publicado: (2019)

Blood spots screening for identification of Fragile X Syndrome among intellectual disability students in Flores Island, INDONESIA
por: Utari, Agustini, et al.
Publicado: (2013)

Phenotypic Variation of 46,XX Late Identified Congenital Adrenal Hyperplasia among Indonesians
por: Juniarto, Achmad Zulfa, et al.
Publicado: (2018)

Mini-dystrophin Expression Down-regulates Overactivation of G Protein–mediated IP3 Signaling Pathway in Dystrophin-deficient Muscle Cells
por: Balghi, Haouaria, et al.
Publicado: (2006)

Medication adherence and economic problem among patients with type 1 diabetes in Central Java Province, Indonesia
por: Utari, Agustini, et al.
Publicado: (2013)

Iodine deficiency profile of Central Java province Indonesia during the year 2011
por: Fitra, Saldi, et al.
Publicado: (2013)

Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia
por: Alaa el Din, Ferdos, et al.
Publicado: (2015)

Familiarity and genetic literacy among medical students in Indonesia
por: Swandayani, Yolanda Marthia, et al.
Publicado: (2021)

Role of Chd7 in Zebrafish: A Model for CHARGE Syndrome
por: Patten, Shunmoogum A., et al.
Publicado: (2012)

Eyes on CHARGE syndrome: Roles of CHD7 in ocular development
por: Krueger, Laura A., et al.
Publicado: (2022)

Behavioral signs of CHARGE syndrome and CHD7 mutational spectrum
por: Bouayed Abdelmoula, N., et al.
Publicado: (2023)

Involvement of the Cdc42 Pathway in CFTR Post-Translational Turnover and in Its Plasma Membrane Stability in Airway Epithelial Cells
por: Ferru-Clément, Romain, et al.
Publicado: (2015)

Pesticide Exposure and Thyroid Function in Elementary School Children Living in an Agricultural Area, Brebes District, Indonesia
por: Suhartono, Suhartono, et al.
Publicado: (2018)

A novel CHD7 mutation in a Chinese patient with CHARGE syndrome
por: Liu, Lanbo, et al.
Publicado: (2014)

De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome
por: Pranckėnienė, Laura, et al.
Publicado: (2019)

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome
por: Qin, Zailong, et al.
Publicado: (2020)

Craniofacial and cardiac defects in chd7 zebrafish mutants mimic CHARGE syndrome
por: Sun, Yuhan, et al.
Publicado: (2022)

Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome
por: Kim, Yeonkyung, et al.
Publicado: (2014)

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon
por: Pisaneschi, Elisa, et al.
Publicado: (2015)

A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome
por: Kohmoto, Tomohiro, et al.
Publicado: (2016)

The CHARGE syndrome ortholog CHD-7 regulates TGF-β pathways in Caenorhabditis elegans
por: Jofré, Diego M., et al.
Publicado: (2022)

Discovery of Novel Variants on the CHD7 Gene: A Case Series of CHARGE Syndrome
por: Wu, Xiangtao, et al.
Publicado: (2022)

Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country
por: Utari, Agustini, et al.
Publicado: (2022)

Corrigendum: Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country
por: Utari, Agustini, et al.
Publicado: (2023)

CHD7 Mutational Analysis and Clinical Considerations for Auditory Rehabilitation in Deaf Patients with CHARGE Syndrome
por: Song, Mee Hyun, et al.
Publicado: (2011)

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome
por: Whittaker, Danielle E., et al.
Publicado: (2017)

Oligodendrocyte precursor survival and differentiation requires chromatin remodeling by Chd7 and Chd8
por: Marie, Corentine, et al.
Publicado: (2018)

Characteristic of patients with disorders of sex development (DSD) in Cipto Mangunkusumo Hospital, Jakarta
por: Utari, Agustini, et al.
Publicado: (2013)

Otitis Media in a New Mouse Model for CHARGE Syndrome with a Deletion in the Chd7 Gene
por: Tian, Cong, et al.
Publicado: (2012)

Epistatic interactions between Chd7 and Fgf8 during cerebellar development: Implications for CHARGE syndrome
por: Basson, M Albert
Publicado: (2014)

An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome
por: Katoh-Fukui, Yuko, et al.
Publicado: (2018)

Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient
por: Xu, Yan-ping, et al.
Publicado: (2018)

Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome
por: Rossi, Cesare, et al.
Publicado: (2023)

The ATP-dependent chromatin remodeling enzymes CHD6, CHD7, and CHD8 exhibit distinct nucleosome binding and remodeling activities
por: Manning, Benjamin J., et al.
Publicado: (2017)

Social stigmatisation in late identified patients with disorders of sex development in Indonesia
por: Ediati, Annastasia, et al.
Publicado: (2017)

The effects of stimulation intervention on speech development of children 1-3 years old in Iodine Deficiency Disorders (IDD) area
por: Purwanti, Asri, et al.
Publicado: (2013)

CHD7 in oocytes is essential for female fertility
por: Cheng, Jie, et al.
Publicado: (2022)

CHARGE syndrome protein CHD7 regulates epigenomic activation of enhancers in granule cell precursors and gyrification of the cerebellum
por: Reddy, Naveen C., et al.
Publicado: (2021)

Aspartate aminotransferase-platelet ratio index, adiponectin and body mass index in children with fatty liver
por: Kusumawati, Ninung RD, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_0iot748uqrul6rtq9p7gpct6df