Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two... by Akif AYAZ, Alper GEZDIRICI, Elif YILMAZ GULEC, Özge OZALP, Abdullah Huseyin KOSEOGLU, Zeynep DOGRU, Sinem YALCINTEPE

“…Detected copy number variations (CNVs) were classified as benign, likely benign, variants of uncertain significance (VUS), likely pathogenic, and pathogenic according to American College of Medical Genetics and Genomics guidelines. The clinical findings of the some patients and the literature data were compared. …”
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A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy by Hane Lee, Dongseok Moon, Rin Khang, Go Hun Seo, Chang Ki Yoon, Un Chul Park, Kyu Hyung Park, Eun Kyoung Lee

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Prader-Willi syndrome protein necdin regulates the nucleocytoplasmic distribution and dopaminergic neuron development by Xin Li, Yichun Zhang, Ying Hu, Xiangrong Tang, Zishan Gong, Ren-bin Lu, Jia-da Li

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Study of Soluble HLA-G in Congenital Human Cytomegalovirus Infection by Roberta Rizzo, Liliana Gabrielli, Daria Bortolotti, Valentina Gentili, Giulia Piccirilli, Angela Chiereghin, Claudia Pavia, Silvia Bolzani, Brunella Guerra, Giuliana Simonazzi, Francesca Cervi, Maria Grazia Capretti, Enrico Fainardi, Dario Di Luca, Maria Paola Landini, Tiziana Lazzarotto

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Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion by Lucio Tremolizzo, Gessica Sala, Elisa Conti, Virginia Rodriguez-Menendez, Antonella Fogli, Angela Michelucci, Paolo Simi, Silvana Penco, Christian Lunetta, Massimo Corbo, Carlo Ferrarese

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Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome by Fengyang Wang, Huijuan Peng, Guiyu Lou, Yanxin Ren, Shixiu Liao

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Case studies in heritable vascular disease: Proceedings of the UTHealth Houston Multidisciplinary Aortic Conference by Milan Jaiswal, BA, Lucas Ribe, MD, Rana O. Afifi, MD, Yuki Ikeno, MD, Alana C. Cecchi, MS, Bihong Zhao, MD, PhD, Akiko Tanaka, MD, PhD, Gustavo S. Oderich, MD, L. Maximilian Buja, MD, Dianna M. Milewicz, MD, PhD, Siddharth K. Prakash, MD, PhD, Anthony L. Estrera, MD

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A Rare Case of Severe Congenital RYR1-Associated Myopathy by Nicola Laforgia, Manuela Capozza, Lucrezia De Cosmo, Antonio Di Mauro, Maria Elisabetta Baldassarre, Francesca Mercadante, Anna Laura Torella, Vincenzo Nigro, Nicoletta Resta

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Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report by Kenta Hanada, Yusuke Osaki, Ryosuke Miyamoto, Kohei Muto, Shotaro Haji, Keyoumu Nazere, Yuki Kuwano, Hiroyuki Morino, Yoshiteru Azuma, Satoko Miyatake, Naomichi Matsumoto, Yuishin Izumi

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Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene by Gulden Diniz, Hulya Tosun Yildirim, Sarenur Gokben, Gul Serdaroglu, Filiz Hazan, Kanay Yararbas, Ajlan Tukun

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Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease by Pankaj Thakur, Paul Speer, Aleksandar Rajkovic

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Spirometry-Related Pain and Distress in Adolescents and Young Adults with Cystic Fibrosis: The Role of Acceptance by Annabelle Casier, Liesbet Goubert, Tine Vervoort, Marleen Theunis, Danielle Huse, Frans De Baets, Dirk Matthys, Geert Crombez

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Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait by Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto

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Erratum to “An Obesity-Related FTO Variant and the Risk of Preeclampsia in a Finnish Study Population” by Miira Klemetti, Leena M. Hiltunen, Sanna Heino, Seppo Heinonen, Eero Kajantie, Hannele Laivuori

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The Association between Single-Nucleotide Polymorphisms of ORAI1 Gene and Breast Cancer in a Taiwanese Population by Wei-Chiao Chang, Peng Yeong Woon, Yu-Wen Hsu, Shengyu Yang, Yi-Ching Chiu, Ming Feng Hou

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Genetic Risk Prediction for Normal-Karyotype Acute Myeloid Leukemia Using Whole-Exome Sequencing by Seong Gu Heo, Eun Pyo Hong, Ji Wan Park

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Lack of Association of Childhood Partial Epilepsy with Brain Derived Neurotrophic Factor Gene by Aycan Unalp, Elcin Bora, Tufan Cankaya, Ozlem Giray Bozkaya, Derya Ercal, Aysel Ozturk, Ayfer Ulgenalp

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Wilson Disease in a Turkish Population: Molecular Insights into an Old Disease with Reported and Novel Variants by Abdullatif Bakır, Vehap Topçu, Büşranur Çavdarlı

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Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran by Nafiseh Todarbary, Abouzar Irandegani, Mojtaba Meshkat, Aida Gholoobi, Tayebeh Hamzehloei

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Clustering Pattern and Functional Effect of SNPs in Human miRNA Seed Regions by Sha He, Haiyan Ou, Cunyou Zhao, Jian Zhang

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