Results 11 to 20 of about 442,293 (268)

COG6‐CDG: Novel variants and novel malformation [PDF]

Birth Defects Research, 2022
AbstractBackgroundDeficiency of Conserved Oligomeric Golgi (COG) subunits (COG1–8) is characterized by both N‐ and O‐protein glycosylation defects associated with destabilization and mislocalization of Golgi glycosylation machinery components (COG‐CDG).
Cirnigliaro, Lara, Bianchi, Paolo, Sturiale, Luisa, Garozzo, Domenico, Mangili, Giovanna, Keldermans, Liesbeth, Rizzo, Renata, Matthijs, Gert, Fiumara, Agata, Jaeken, Jaak, Barone, Rita   +10 more
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DEEPGENTM—A Novel Variant Calling Assay for Low Frequency Variants [PDF]

Genes, 2021
Detection of genetic variants in clinically relevant genomic hot-spot regions has become a promising application of next-generation sequencing technology in precision oncology. Effective personalized diagnostics requires the detection of variants with often very low frequencies. This can be achieved by targeted, short-read sequencing that provides high
Bernd Timo Hermann, Sebastian Pfeil, Nicole Groenke, Samuel Schaible, Robert Kunze, Frédéric Ris, Monika Elisabeth Hagen, Johannes Bhakdi   +7 more
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MAN1B1-CDG: novel patients and novel variant

Journal of Pediatric Endocrinology and Metabolism, 2021
Abstract Objectives Congenital disorders of glycosylation (CDGs) are a group of genetic disorders due to hypoglycosylation of proteins and lipids. A type I pattern is associated with defects in glycan assembly and transfer (CDG-I; cytosol; and endoplasmic reticulum defects), a type II pattern is seen ...
Kasapkara, Cigdem Seher, Olgac, Asburce, Kilic, Mustafa, Keldermans, Liesbeth, Matthijs, Gert, Jaeken, Jaak   +5 more
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Nonsyndromic craniosynostosis: novel coding variants [PDF]

Pediatric Research, 2019
Craniosynostosis (CS), the premature fusion of one or more neurocranial sutures, is associated with approximately 200 syndromes; however, about 65-85% of patients present with no additional major birth defects.We conducted targeted next-generation sequencing of 60 known syndromic and other candidate genes in patients with sagittal nonsyndromic CS (sNCS,
Sewda, Anshuman, White, Sierra R., Erazo, Monica, Hao, Ke, García-Fructuoso, Gemma, Fernández-Rodriguez, Ivette, Heuzé, Yann, Richtsmeier, Joan T., Romitti, Paul A., Reva, Boris, Jabs, Ethylin Wang, Peter, Inga   +11 more
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The tao of MPS: Common novel variants [PDF]

Forensic Science International: Genetics Supplement Series, 2017
Abstract The introduction of massively parallel sequencing (MPS) to forensic genetics has led to improvements in multiple aspects of DNA analysis, however additional complexities are concurrently associated with these advances. In relation to STR analysis, the move to assign alleles using sequence rather than length based methodologies has highlighted
Devesse, L. A., Ballard, D.J., Davenport, L.B., Gettings, K.B., Borsuk, L.A., Vallone, P.M., Syndercombe Court, D.   +6 more
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Security Issues of Novel RSA Variant

IEEE Access, 2022
The RSA is one of the current default cryptosystems that provides security with applications such as encryptions and digital signatures. It is important to further study the weak characteristics of the RSA to ensure correct utilisation in order not to be susceptible to adversaries.
Abderrahmane Nitaj, Muhammad Rezal Kamel Ariffin, Nurul Nur Hanisah Adenan, Terry Shue Chien Lau, Jiahui Chen   +4 more
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LGMD2E with a novel nonsense variant in SGCB gene: a case of LGMD2E with a novel variant [PDF]

Annals of Clinical Neurophysiology, 2020
Sarcoglycanopathies are a rare group of autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by genetic variants in α-, β-, γ-, or δ-sarcoglycan that maintain membrane integrity and contribute to molecular signal processing. High-throughput nucleotide sequencing was performed in patients with slowly progressive proximal muscle weakness ...
Yun Kyung La, Eun Kyoung Oh, Hyun Ji Lyou, Ji Man Hong, Young-Chul Choi   +4 more
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Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period

Iranian Journal of Public Health, 2019
Background: Diagnosis of hereditary hearing loss (HHL) as a heterogeneous disorder is very important espe-cially in countries with high rates of consanguinity where the autosomal recessive pattern of inheritance is preva-lent.
Niloofar BAZAZZADEGAN, Raheleh VAZEHAN, Mahsa FADAEE, Zohreh FATTAHI, Ayda ABOLHASSANI, Elham PARSIMEHR, Zahra KALHOR, Mehrshid FARAJI ZONOOZ, Fatemeh AHANGARI, Shima DEHDAHSI, Farshide SAMIEE, Payman JAMALI, Haleh HABIBI, Younes NOURIZADEH, Shokouh MAHDAVI, Maryam BEHESHTIAN, Ariana KARIMINEJAD, Richard JH SMITH, Hossein NAJMABADI   +18 more
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Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab

Molecular Genetics & Genomic Medicine, 2023
Background Variants in COL7A1 cause an extremely rare and clinically heterogeneous syndrome known as dystrophic epidermolysis bullosa pruriginosa (DEB‐Pr).
Caichou Zhao, Shuanglin Cao, Xinghua Gao, Xuegang Xu, Lixiong Gu   +4 more
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Novel Homozygous PADI6 Variants in Infertile Females with Early Embryonic Arrest

Frontiers in Cell and Developmental Biology, 2022
Early embryonic arrest denotes premature termination of development in preimplantation embryos, which is one of the major phenotypes of recurrent assisted reproduction failure.
Yao Xu, Rongxiang Wang, Zhi Pang, Zhiyun Wei, Lihua Sun, Sa Li, Guanghua Wang, Yu Liu, Yiwen Zhou, Hongjuan Ye, Liping Jin, Songguo Xue   +11 more
doaj   +1 more source