Cargando…

Variant Curation is Crucial to Claim Digenic Inheritance in Juvenile Open Angle Glaucoma

Detalles Bibliográficos
Autores principales:	Poon, Kok-Siong, Tan, Karen Mei-Ling
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Georg Thieme Verlag KG 2021
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8837415/ https://www.ncbi.nlm.nih.gov/pubmed/35169785 http://dx.doi.org/10.1055/s-0041-1733963

Ejemplares similares

Digenic inheritance in medical genetics
por: Schäffer, Alejandro A
Publicado: (2013)

ENAM mutations and digenic inheritance
por: Zhang, Hong, et al.
Publicado: (2019)

Digenic Inheritance in Cystinuria Mouse Model
por: Espino, Meritxell, et al.
Publicado: (2015)

Exploring digenic inheritance in arrhythmogenic cardiomyopathy
por: König, Eva, et al.
Publicado: (2017)

Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer
por: Schubert, Stephanie A., et al.
Publicado: (2020)

Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis
por: Steen, Erica A., et al.
Publicado: (2021)

Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?
por: Ferrari, Luca, et al.
Publicado: (2020)

DIDA: A curated and annotated digenic diseases database
por: Gazzo, Andrea M., et al.
Publicado: (2016)

Outcomes of trabeculectomy in juvenile open angle glaucoma
por: Pathania, Daizy, et al.
Publicado: (2014)

Clinical Implications of Digenic Inheritance and Epistasis in Primary Immunodeficiency Disorders
por: Ameratunga, Rohan, et al.
Publicado: (2018)

Clinical Characteristics of Juvenile-onset Open Angle Glaucoma
por: Kwun, Youngkyo, et al.
Publicado: (2016)

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
por: Voskarides, Konstantinos, et al.
Publicado: (2018)

Comparison of anterior chamber angle parameters and iris structure of juvenile open-angle glaucoma and pigmentary glaucoma
por: Pasaoglu, Isil, et al.
Publicado: (2022)

Delineation of Novel Compound Heterozygous Variants in LTBP2 Associated with Juvenile Open Angle Glaucoma
por: Saeedi, Osamah, et al.
Publicado: (2018)

Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways
por: Duerinckx, Sarah, et al.
Publicado: (2019)

Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole‐exome sequencing
por: Ren, Ming‐Bao, et al.
Publicado: (2020)

Digenic Inheritance and Gene-Environment Interaction in a Patient With Hypertriglyceridemia and Acute Pancreatitis
por: Yang, Qi, et al.
Publicado: (2021)

A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma
por: Souzeau, Emmanuelle, et al.
Publicado: (2016)

Intraocular pressure fluctuation after water drinking test in primary angle-closure glaucoma and primary open-angle glaucoma
por: Poon, Yi-Chieh, et al.
Publicado: (2016)

Comparison of surgical outcomes after phacotrabeculectomy in primary angle-closure glaucoma versus primary open-angle glaucoma
por: Poon, Linda Yi-Chieh, et al.
Publicado: (2015)

Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy
por: Abdallah, Atiyeh M, et al.
Publicado: (2019)

Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations
por: Peddareddygari, Leema Reddy, et al.
Publicado: (2018)

Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome
por: McCormack, Shana E., et al.
Publicado: (2017)

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome
por: Li, Mengnan, et al.
Publicado: (2020)

Bilateral XEN Gel Stent Implantation in Juvenile-Onset Open-Angle Glaucoma
por: Klug, Emma, et al.
Publicado: (2020)

Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards
por: Poon, Kok-Siong, et al.
Publicado: (2021)

A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6
por: Heida, Annejet, et al.
Publicado: (2019)

Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma
por: Liu, Yutao, et al.
Publicado: (2008)

Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation
por: Marín-Quílez, Ana, et al.
Publicado: (2023)

Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss
por: Lechowicz, Urszula, et al.
Publicado: (2015)

Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma
por: Wei, Yan-Tao, et al.
Publicado: (2011)

Genotype Pattern Mining for Pairs of Interacting Variants Underlying Digenic Traits
por: Okazaki, Atsuko, et al.
Publicado: (2021)

Absence of optineurin (OPTN) gene mutations in Taiwanese patients with juvenile-onset open-angle glaucoma
por: Yen, Yung-Chang, et al.
Publicado: (2008)

An Application of NGS for WDR36 Gene in Taiwanese Patients with Juvenile-Onset Open-Angle Glaucoma
por: Su, Hsuan-An, et al.
Publicado: (2017)

Comparison of Refractive Status and Anterior Segment Parameters of Juvenile Open-Angle Glaucoma and Normal Subjects
por: Elgin, Ufuk, et al.
Publicado: (2018)

Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma
por: Mengkegale, MingGe, et al.
Publicado: (2008)

Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma
por: Micheal, Shazia, et al.
Publicado: (2015)

Primary open angle glaucoma genetics: The common variants and their clinical associations
por: Trivli, Alexandra, et al.
Publicado: (2020)

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment
por: Schrauwen, Isabelle, et al.
Publicado: (2018)

Correction to: Digenic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome
por: Kong, Yuanmei, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_jr3tnroi3e34am9gehhhls6idp