Results 41 to 50 of about 14,255 (146)

Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders

Acta Paediatrica, EarlyView.
ABSTRACTAimType II collagen, encoded by the collagen type II alpha 1 (COL2A1) gene, is crucial for the structure of cartilage. This study aims to improve our understanding of Spondyloepiphyseal Dysplasia Congenita (SEDC) caused by mutations in COL2A1.
Shumin Zhan, Qin He, Jinna Yuan, Xiaoqin Xu, Ke Huang, Guanping Dong, Junfen Fu, Dingwen Wu, Wei Wu   +8 more
wiley   +1 more source

Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations

Bioinform., 2011
Summary: Accurate annotations of genomic variants are necessary to achieve full-genome clinical interpretations that are scientifically sound and medically relevant.
Mark Y. Tong, C. Cassa, I. S. Kohane
semanticscholar   +1 more source

Endocrine Abnormalities and Growth Pattern in Single Large‐Scale Mitochondrial DNA Deletion Syndromes

Acta Paediatrica, EarlyView.
ABSTRACT Aim To assess the prevalence of endocrine disorders and investigate growth patterns in single large‐scale mitochondrial DNA deletion syndromes (SLSMDs). Methods A retrospective study of all children with SLSMD who attended Sheba Medical Center, Israel, from February 2017 to September 2024.
Ayman Daka, Einat Lahav, Omer Bar Yosef, Yoav Bolkier, Yael Levy‐Shraga, Yair Anikster, Elad Jacoby, Noah Gruber   +7 more
wiley   +1 more source

Database resources of the National Center for Biotechnology Information: update

Nucleic Acids Research, 2004
In addition to maintaining the GenBank(R) nucleic acid sequence database, the National Center for Biotechnology Information (NCBI) provides data analysis and retrieval resources for the data in GenBank and other biological data made available through ...
David L. Wheeler, D. Church, Ron Edgar, S. Federhen, W. Helmberg, Thomas L. Madden, J. Pontius, G. Schuler, L. Schriml, Edwin Sequeira, Tugba Onal Suzek, T. Tatusova, L. Wagner   +12 more
semanticscholar   +1 more source

Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders

Clinical Genetics, EarlyView.
Inherited retinal diseases (IRDs) are a leading cause of vision loss, with an incidence of 1:2000. In this study of 50 Turkish patients, next‐generation sequencing identified pathogenic variants in 58%, including novel variants in six genes. This research enhances genetic understanding and supports improved diagnostics and treatments for IRDs ...
Cuneyd Yavas, Yunus Emre Arvas, Mustafa Dogan, Alper Gezdirici, Elif Sibel Aslan, Murat Karapapak, Savas Barıs, Recep Eroz   +7 more
wiley   +1 more source

Database resources of the National Center for Biotechnology

Nucleic Acids Res., 2003
In addition to maintaining the GenBank(R) nucleic acid sequence database, the National Center for Biotechnology Information (NCBI) provides data analysis and retrieval resources for the data in GenBank and other biological data made available through ...
David L. Wheeler, D. Church, S. Federhen, A. Lash, Thomas L. Madden, J. Pontius, G. Schuler, L. Schriml, Edwin Sequeira, T. Tatusova, L. Wagner   +10 more
semanticscholar   +1 more source

Interactive Bioinformatics Lab: Using Genomic Databases for Active Learning in Dentistry

Journal of Dental Education, EarlyView.
François Isnaldo Dias Caldeira, Raquel Mantuaneli Scarel‐Caminaga   +1 more
wiley   +1 more source

Pathogenic variants in chromatin‐related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders

Developmental Medicine &Child Neurology, EarlyView.
Chromatin machinery influences how DNA is ‘wrapped’ around histones in the nucleosome of immune and brain cells. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16299 Abstract We report eight children with de novo pathogenic DNA variants in chromatin‐related genes: MORC2, CHD7, KANSL1, KMT2D, ZMYND11, HIST1HIE, EP300, and KMT2B.
Russell C. Dale, Shekeeb Mohammad, Velda X. Han, Hiroya Nishida, Himanshu Goel, Stuart G. Tangye, Georgina Hollway, Esther Tantsis, Deepak Gill, Shrujna Patel, Chromatin Immune‐Brain Group, Michael Lonergan, Melanie Wong, Kavitha Kothur, Erica Tsang   +14 more
wiley   +1 more source

GPAD: a natural language processing-based application to extract the gene-disease association discovery information from OMIM

BMC Bioinformatics
Background Thousands of genes have been associated with different Mendelian conditions. One of the valuable sources to track these gene-disease associations (GDAs) is the Online Mendelian Inheritance in Man (OMIM) database.
K. M. Tahsin, Hassan Rahit, Vladimir Avramovic, Jessica X. Chong, Maja Tarailo-Graovac   +4 more
semanticscholar   +1 more source

Geneticization in MIM/OMIM®? Exploring Historic and Epistemic Drivers of Contemporary Understandings of Genetic Disease.

Journal of Medicine and Philosophy, 2017
Prior to the genomic sequencing era, the bible for those working in clinical genetics was McKusick's Mendelian Inheritance in Man (MIM), which appeared in multiple editions between the 1960s and the late 1990s.
R. Ankeny
semanticscholar   +1 more source