Germline genetic variants in young-onset sporadic pituitary macroadenomas: A multigene panel analysis by Leonor M. Gaspar, Catarina I. Gonçalves, Ema L. Nobre, Fernando Fonseca, Cláudia Amaral, João S. Duarte, Luísa Raimundo, Catarina Saraiva, Luísa Cortez, Olinda Marques, Manuel C. Lemos

Subjects: Get full text

The role of pathogenic germline mutations of BRCA1/2, NBS1, and CHEK2 genes in gastric cancer development within the Volga-Ural region of Russia by Alfiia Kh. Nurgalieva, Sabina G. Petrova, Lilia F. Gallyamova, Natalia V. Ekomasova, Dina D. Sakaeva, Yulia Yu. Fedorova, Murat A. Dzhaubermezov, Rustem R. Abdeev, Radmir R. Rakhimov, Elza K. Khusnutdinova, Darya S. Prokofyeva

Subjects: Get full text

Identification of c.683_684insCTGCAAGGACAAATCTGACGA pathogenic variant of the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia: a case report by V. A. Korneva, M. Yu. Mandelshtam, A. V. Orlov, V. B. Vasiliev, T. Yu. Kuznetsova, F. M. Zakharova

Subjects: Get full text

Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study by Meiying Cai, Yashi Gao, Huili Xue, Xianguo Fu, Hua Cao, Liangpu Xu, Na Lin, Hailong Huang

Subjects: “…Pathogenic variant…”
Get full text

<i>KIAA2022/NEXMIF</i> c.1882C>T (p.Arg628*) Variant in a Romanian Patient with Neurodevelopmental Disorders and Epilepsy: A Case Report and Systematic Review by Catalina Mihaela Anastasescu, Veronica Gheorman, Simona Viorica Godeanu, Adriana Cojocaru, Floris Petru Iliuta, Mioara Desdemona Stepan, Victor Gheorman

Subjects: “…<i>NEXMIF</i> gene pathogenic variant…”
Get full text

Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study by Toyohiro Hashiba, Yuka Sugawara, Yosuke Hirakawa, Dai Sato, Reiko Inagi, Masaomi Nangaku

Subjects: Get full text

Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes by Zhaoyun Jiang, Bing Xu, Bo Sun, Beibei Yang, Su Lu, Mengjian Li, Juan Zhang, Liqiang Qi, Qixi Wu

Subjects: Get full text

The breast cancer genetic testing experience: probing the potential utility of an online decision aid in risk perception and decision making by Anna Vaynrub, Brian Salazar, Yilin Eileen Feng, Harry West, Alissa Michel, Subiksha Umakanth, Katherine D. Crew, Rita Kukafka

Subjects: Get full text

Editorial: Pathogenic potassium channel variants in neurological disorders: from functional analysis to personalized pharmacological approaches by Ilenio Servettini, Luca Guglielmi, Luigi Sforna, Luigi Catacuzzeno

Subjects: Get full text

Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care by Samantha Saenz Hinojosa, Carlos Reyes-Silva, Kazuyoshi Hosomichi, Vanessa I. Romero

Subjects: Get full text

Epigenetic Study of Cohort of Monozygotic Twins With Hypertrophic Cardiomyopathy Due to MYBPC3 (Cardiac Myosin‐Binding Protein C) by Alfonso Peñarroya, Rebeca Lorca, José Julián Rodríguez Reguero, Juan Gómez, Pablo Avanzas, Juan Ramon Tejedor, Agustín F. Fernandez, Mario F. Fraga

Subjects: Get full text

Whole-exome sequencing of patients with juvenile myoclonic epilepsy by E. E. Timechko, O. S. Shilkina, N. V. Oreshkova, V. O. Kobanenko, E. A. Osipova, N. A. Shnayder, D. V. Dmitrenko

Subjects: Get full text

Increased response to granulocyte-macrophage colony-stimulating factor in peripheral blood cells and transient manifestations mimicking juvenile myelomonocytic leukemia in a male p... by Masahiro Ueki, Shinsuke Hirabayashi, Yoshitaka Honda, Shunichiro Takezaki, Hiroki Ohata, Shimaa Said Mohamed Ali Abdrabou, Saori Sawai, Yukayo Terashita, Yuko Cho, Hideki Muramatsu, Kazushi Izawa, Takahiro Yasumi, Yoshiyuki Takahashi, Masafumi Yamada, Atsushi Manabe

Subjects: Get full text

Clinicopathological Characteristics of HER2-Positive Breast Cancer Patients with BRCA1/2 Pathogenic Variants and Their Response to Neoadjuvant Targeted Therapy by Xingyu LIAO, Huimin LIU, Jie SUN, Li HU, Juan ZHANG, Lu YAO, Ye XU, Yuntao XIE

Subjects: “…brca1/2 pathogenic variant…”
Get full text

High Rates of Germline Pathogenic Variants in Somali Patients with Ovarian Cancer by José V. Somohano-Short, Natasha Crawford, Mahmoud A. Khalifa, Britt K. Erickson

Subjects: “…BRIP1 pathogenic variant…”
Get full text

A novel germline mutation of TP53 with breast cancer diagnosed as Li–Fraumeni syndrome by Masaya Kai, Makoto Kubo, Sawako Shikada, Saori Hayashi, Takafumi Morisaki, Mai Yamada, Yuka Takao, Akiko Shimazaki, Yurina Harada, Kazuhisa Kaneshiro, Yusuke Mizuuchi, Koji Shindo, Masafumi Nakamura

Subjects: Get full text

Characteristics of glucose-6-phosphate dehydrogenase mutations in newborns with deficiency from 2021 to 2022 in the Heze area of China by Xin Zhang, Xin Zhang, Xin Zhang, Yanan Duan, Yanan Duan, Yanan Duan, Xiao Zhang, Xiao Zhang, Miaomiao Li, Miaomiao Li, Ling Li, Renwei Zhang, Renwei Zhang, Shiguo Liu, Shiguo Liu

Subjects: Get full text

Spastic Paraplegia Type 78 Associated With ATP13A2 Gene Variants in Compound Heterozygosity by R. Bermejo Ramírez, N. Villena Gascó, L. Ruiz Palmero, G. A. Ribes Bueno, E. Seiti Yamanaka, J. D. Arroyo Andújar

Subjects: Get full text

Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child by Nguyen Minh-Phu, Nguyen Hanh Giang, Nguyen Ngan-Ha, Nguyen Huu Hong Thu, Nguyen Hai Ha

Subjects: Get full text

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing by Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa deAlmeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann

Subjects: Get full text