Cargando…

Successful application of next-generation sequencing for pre-natal diagnosis in a pedigree with chronic granulomatosis disease

The present study describes the successful application of next-generation sequencing (NGS) in the clinical diagnosis, pathogenic gene identification, treatment and pre-natal diagnosis in a pedigree with chronic granulomatosis disease (CGD). A 36-day-old infant, born to non-consanguineous Chinese par...

Descripción completa

Detalles Bibliográficos
Autores principales:	Peng, Fang, Zhong, Lili, Zhang, Bing, Zou, Runying, Nie, Shengdan, Tian, Xin, Deng, Shaoyang, He, Xiangling
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2019
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434260/ https://www.ncbi.nlm.nih.gov/pubmed/30936962 http://dx.doi.org/10.3892/etm.2019.7318

Ejemplares similares

Whole Wiskott-Aldrich syndrome protein gene deletion identified by high throughput sequencing
por: He, Xiangling, et al.
Publicado: (2017)

The Child's Inheritance : Hereditary, Pre-Natal and Natal Influences
por: Henderson, J. L.
Publicado: (1948)

Pre-Natal Dentition
por: Chatterjee, S. N.
Publicado: (1932)

Pre-Natal Education
por: Comings, I. B.
Publicado: (1886)

Next Generation Sequencing Plus (NGS+) with Y-chromosomal Markers for Forensic Pedigree Searches
por: Qian, Xiaoqin, et al.
Publicado: (2017)

Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next‐generation sequencing
por: Bitarafan, Fatemeh, et al.
Publicado: (2020)

Singular Pre-Natal Affliction
Publicado: (1887)

Successful Stenting in Endobronchial Wegener's Granulomatosis
por: Tiernan, J, et al.
Publicado: (2006)

Successful induction of granulomatosis with polyangiitis with tacrolimus
por: Ramachandran, R., et al.
Publicado: (2015)

Isomorphism and similarity for 2-generation pedigrees
por: Jiang, Haitao, et al.
Publicado: (2015)

Pre-Natal Influences as Affecting the Teeth
por: Cushing, Geo. H.
Publicado: (1884)

Pre-Natal Influences as Affecting the Teeth
por: Cushing, Geo. H.
Publicado: (1883)

Case Report: First Occurrence of Plasmablastic Lymphoma in Activated Phosphoinositide 3-Kinase δ Syndrome
por: Yin, Zexi, et al.
Publicado: (2021)

Success and the next generation of physician-scientists
por: Hsiao, Chu J., et al.
Publicado: (2020)

Pre-natal and post-natal anxiety in relation to pre-pregnancy obesity: A cohort study on Iranian pregnant women
por: Farshbaf-Khalili, Azizeh, et al.
Publicado: (2020)

FRANz: reconstruction of wild multi-generation pedigrees
por: Riester, Markus, et al.
Publicado: (2009)

Enfermería en la atención pre-natal
por: Bazan santiago, Yolanda

Enfermería en la atención pre-natal
por: Delgado Valdez, Victor Eduardo
Publicado: (1992)

Ethical issues after pre-natal diagnosis
por: Corno, Antonio F.
Publicado: (2021)

Diagnosis for choroideremia in a large Chinese pedigree by next-generation sequencing (NGS) and non-invasive prenatal testing (NIPT)
por: Zhu, Li, et al.
Publicado: (2017)

A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data
por: Heinrich, Verena, et al.
Publicado: (2017)

Analysis of Pre-Analytic Factors Affecting the Success of Clinical Next-Generation Sequencing of Solid Organ Malignancies
por: Chen, Hui, et al.
Publicado: (2015)

Successful Treatment of ANCA-Negative Wegener's Granulomatosis with Rituximab
por: Khan, Afsha, et al.
Publicado: (2010)

Successful endonasal dacryocystorhinostomy in a patient with Wegener’s granulomatosis
por: Eloy, P, et al.
Publicado: (2009)

Successful rituximab treatment of granulomatosis with polyangiitis with cranial neuropathies
por: Nakazawa, Maho, et al.
Publicado: (2018)

Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing
por: Lu, Lan, et al.
Publicado: (2016)

Locations and patterns of meiotic recombination in two-generation pedigrees
por: Ting, Jason C, et al.
Publicado: (2009)

KwaZulu–Natal's Successful Fight against Malaria
Publicado: (2005)

“Functionally” Univentricular Hearts: Impact of Pre-Natal Diagnosis
por: Corno, Antonio Francesco
Publicado: (2015)

Diagnóstico Pré-Natal de Duplo Arco Aórtico
por: Noronha, Natália, et al.
Publicado: (2021)

Pre-natal and post-natal exposure to respiratory infection and atopic diseases development: a historical cohort study
por: Zutavern, Anne, et al.
Publicado: (2006)

Use of 5-azacytidine in a proof-of-concept study to evaluate the impact of pre-natal and post-natal exposures, as well as within generation persistent DNA methylation changes in Daphnia
por: Athanasio, Camila Gonçalves, et al.
Publicado: (2018)

The Causes of Ante-Natal, Natal and Neo-Natal Mortality of Infants
Publicado: (1929)

Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing
por: Stephenson, Kirk A. J., et al.
Publicado: (2022)

Successful Treatment with Rituximab for Granulomatosis with Polyangiitis and Multiple Cranial Neuropathies
por: Horiuchi, Kazuhiro, et al.
Publicado: (2020)

PReS-FINAL-2361: Maintenance treatment in childhood granulomatosis with polyangiitis
por: Twilt, M, et al.
Publicado: (2013)

Fabry pedigree analysis: A successful program for targeted genetic approach
por: Rozenfeld, Paula A., et al.
Publicado: (2019)

Pre and post-natal risk and determination of factors for child obesity
por: Trandafir, LM, et al.
Publicado: (2016)

Immunotoxicity Following Pre- and Post-natal Aluminum Exposure in Rats
por: Khalaf, Abd El-Azeim A., et al.
Publicado: (2008)

Introduction to the series: pre-natal diagnosis in congenital heart defects
por: Corno, Antonio F.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_gu469d23umq1kl564f6oe08h1l