Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years-Reference-Cited by-同舟云学术

Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years

Published:2019-08-16 Issue:1 Volume:84 Page:11-28
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Cohen Leila¹^ORCID,Manín Analisa¹,Medina Nancy¹²,Rodríguez‐Quiroga Sergio¹²³,González‐Morón Dolores¹²⁴,Rosales Julieta¹²,Amartino Hernan⁵,Specola Norma⁶,Córdoba Marta¹²,Kauffman Marcelo¹²⁷,Vega Patricia²

Affiliation:

1. Neurology Department, Hospital J.M. Ramos Mejía, CABA, Centro Universitario de Neurología, Facultad de Medicina Universidad de Buenos Aires Buenos Aires Argentina

2. Neurogenetic Section, Neurology Department, Hospital J.M. Ramos Mejía, CABA, Centro Universitario de Neurología, Facultad de Medicina Universidad de Buenos Aires Buenos Aires Argentina

3. Movements Disorders Section, Neurology Department, Hospital J.M. Ramos Mejía, CABA, Centro Universitario de Neurología, Facultad de Medicina Universidad de Buenos Aires Buenos Aires Argentina

4. Neuroophthalmology Section, Neurology Department, Hospital J.M. Ramos Mejía, CABA, Centro Universitario de Neurología, Facultad de Medicina Universidad de Buenos Aires Buenos Aires Argentina

5. Child Neurology Department Hospital Universitario Austral Buenos Aires Argentina

6. Metabolism Department Hospital de Niños “Sor María Ludovica” de La Plata Buenos Aires Argentina

7. Instituto de Investigaciones en Medicina Traslacional‐CONICET y Facultad de Ciencias Biomédicas‐Universidad Austral Buenos Aires Argentina

Funder

Fondo para la Investigación Científica y Tecnológica

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12345

Reference24 articles.

1. X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

2. Krabbe Disease in Monozygotic Triplets

3. Accurate DNA-Based Diagnostic and Carrier Testing for X-Linked Adrenoleukodystrophy

4. Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study

5. Neurología genómica personalizada: el futuro es ahora

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review;European Journal of Medical Research;2024-03-18

2. High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry;neurogenetics;2023-08-19

3. Utility of genetic testing in children with leukodystrophy;European Journal of Paediatric Neurology;2023-07

4. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization;Neurology;2022-01-10

5. Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities;Clinical Genetics;2021-07-30