Cargando…

The Results of Whole Exome Sequencing Performed On Previously Undiagnosed Pediatric Neurology Patients

OBJECTIVE: Whole exome sequencing (WES) is a new molecular diagnostic test, used in pediatric medicine, especially pediatric neurology. The diagnostic yield of WES is higher than conventional methods. Therefore, this study aimed to assess the diagnostic yield of WES in a pediatric neurology clinic a...

Descripción completa

Detalles Bibliográficos
Autores principales:	AHMADNIA, Negin, BEIRAGHI TOOSI, Mehran, GHAYOUR KARIMIANI, Ehsan, ASHRAFZADEH, Farah, FARAJI RAD, Mohammad
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Shahid Beheshti University of Medical Sciences 2021
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9376020/ https://www.ncbi.nlm.nih.gov/pubmed/36213152 http://dx.doi.org/10.22037/ijcn.v15i2.26401

Ejemplares similares

Effect of Curcumin on Pediatric Intractable Epilepsy
por: ERFANI, Mina, et al.
Publicado: (2022)

Extensive cerebral Sinovenous Thrombosis in a 5 Year Old Girl, Following Mild Dehydration. (Case Report and Review of Literature)
por: Ashrafzadeh, Farah, et al.
Publicado: (2013)

Epstein-Barr Virus Encephalitis: A Case Report
por: HASHEMIAN, Somayh, et al.
Publicado: (2015)

Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis
por: ESLAMIYEH, Hossein, et al.
Publicado: (2015)

Hypoparathyroidism as the First Manifestation of Kearns-Sayre Syndrome: A Case Report
por: ASHRAFZADEH, Farah, et al.
Publicado: (2013)

Angelman Syndrome: A Case Report
por: Ashrafzadeh, Farah, et al.
Publicado: (2016)

Joubert Syndrome in Three Children in A Family: A Case Series
por: Akhondian, Javad, et al.
Publicado: (2013)

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases
por: Narita, Kotaro, et al.
Publicado: (2022)

A case report of Posterior reversible encephalopathy syndrome with spinal cord involvement (PRES-SCI) as an atypical presentation of PRES in children: A case report and review of the literature
por: AKHONDIAN, Javad, et al.
Publicado: (2022)

Inherited deletion of 9p22.3‐p24.3 and duplication of 18p11.31‐p11.32 associated with neurodevelopmental delay: Phenotypic matching of involved genes
por: Ajami, Naser, et al.
Publicado: (2023)

Comparison of new biomarkers in the diagnosis of perinatal asphyxia
por: BOSKABADI, Hassan, et al.
Publicado: (2023)

The Utility of Whole Exome Sequencing in Diagnosing Pediatric Neurological Disorders
por: Muthaffar, OY
Publicado: (2021)

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
por: Zhu, Xiaolin, et al.
Publicado: (2015)

Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review
por: Magrinelli, Francesca, et al.
Publicado: (2022)

Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond
por: Barili, Valeria, et al.
Publicado: (2023)

Psychological Signs as the Only Presentation of Wilson’s Disease in an 11-Year-Old Boy
por: BEIRAGHI TOOSI, Mehran, et al.
Publicado: (2018)

Exome/Genome Sequencing in Undiagnosed Syndromes
por: Sullivan, Jennifer A., et al.
Publicado: (2023)

Whole-genome sequencing in clinically diagnosed Charcot–Marie–Tooth disease undiagnosed by whole-exome sequencing
por: Kim, Young-gon, et al.
Publicado: (2023)

A Case of Recurrent Urinary Tract Infections With Neurogenic Bladder Due to Spinal Tumors
por: NASERI, Mitra, et al.
Publicado: (2021)

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses
por: James, Kiely N., et al.
Publicado: (2020)

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition
por: Musante, Luciana, et al.
Publicado: (2022)

Exome sequencing in undiagnosed inherited and sporadic ataxias
por: Pyle, Angela, et al.
Publicado: (2015)

Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases
por: Altamimi, Eyad, et al.
Publicado: (2020)

The Gross, Fine, and Oral Motor Functions in a Patient with Megalencephalic Leukoencephalopathy with Subcortical Cyst: A Case Report
por: SABERMOGHADAM, Reihane, et al.
Publicado: (2023)

Clinical application of exome sequencing in undiagnosed genetic conditions
por: Need, Anna C, et al.
Publicado: (2012)

Whole-exome sequencing in neurologic practice: Reducing the diagnostic odyssey
por: Johnson, Nicholas E.
Publicado: (2015)

A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
por: Marwaha, Shruti, et al.
Publicado: (2022)

Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity
por: Ferreira, Cristina Santos, et al.
Publicado: (2023)

Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders
por: Kim, Min-Jee, et al.
Publicado: (2020)

An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort
por: Chen, Jieyi, et al.
Publicado: (2022)

Pineal and Suprasellar Germinoma Cooccurence with Vertebra Plana: A Case Report
por: Seilanian Toosi, Farrokh, et al.
Publicado: (2018)

Griscelli Syndrome: A Case Report
por: MANSOURI NEJAD, Seyed Ebrahim, et al.
Publicado: (2014)

The Prevalence of Previously Undiagnosed Leprosy in the General Population of Northwest Bangladesh
por: Moet, Fake J., et al.
Publicado: (2008)

Cerebral Metastasis from a Previously Undiagnosed Appendiceal Adenocarcinoma
por: Biroli, Antonio, et al.
Publicado: (2012)

Case-control Investigation of Previously Undiagnosed Diabetes in the Critically Ill
por: Krinsley, James S, et al.
Publicado: (2022)

Acute food impaction in an adult with previously undiagnosed eosinophilic esophagitis
por: Patel, Hiral S., et al.
Publicado: (2023)

Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy
por: Long, Pamela A., et al.
Publicado: (2017)

Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing
por: Bouhouche, Ahmed, et al.
Publicado: (2018)

RARE-57. PEDIATRIC CHORDOMA: WHOLE EXOME SEQUENCING OF 11 PEDIATRIC CHORDOMA SAMPLES
por: O’Halloran, Katrina, et al.
Publicado: (2020)

Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report
por: Lekszas, Caroline, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_tbaviil4ukl6laou2a1lmojqc9