Results 181 to 190 of about 79,064 (227)

Clinical and molecular features of PRCD‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the clinical and genetic characteristics of patients with biallelic disease‐causing variants in the PRCD (Progressive Rod‐Cone Degeneration) gene. Methods Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Vasil Kostin, Karolina Kaminska, Marco Cattaneo, Enrico Ambrosini, Carmen Ayuso, Almudena Ávila‐Fernández, Béatrice Bocquet, Luisa Coutinho‐Santos, Benedetto Falsini, Lidia Fernandez‐Caballero Palomeque, Bohdan Kousal, Petra Liskova, Inmaculada Martín‐Mérida, María Juliana Ballesta‐Martínez, Daan Panneman, Susanne Roosing, Isabelle Meunier, José M. Millán, Monika Pankievič, Irene Perea‐Romero, Virginie Peter, Giorgio Placidi, Cristina Santos, Francesca Simonelli, Ana Berta Sousa, Francesco Testa, Marie Vajter, Marianna Weener, Mathieu Quinodoz, Carlo Rivolta, Giacomo Calzetti   +30 more
wiley   +1 more source

Likelihood-based optimization enables accurate copy number estimation for paralogous genes using exome data. [PDF]

Bioinformatics
Byun SY, Bansal V.
europepmc   +1 more source

Higher plasma vitamin D levels are not causally associated with less age‐related macular degeneration

Acta Ophthalmologica, EarlyView.
Abstract Purpose Higher levels of plasma 25‐hydroxyvitamin D have been associated with a lower risk of age‐related macular degeneration (AMD). We investigated observational and potential causal associations of plasma 25‐hydroxyvitamin D with the risk of AMD in two large contemporary population‐based prospective studies and a genetic case–control ...
Sabina O. Beheshti, Michael Larsen, Børge G. Nordestgaard, Shoaib Afzal   +3 more
wiley   +1 more source

WxS-QC-a quality control pipeline for human germline short-variant Whole-Genome and Whole-Exome cohorts for population-scale analyses. [PDF]

Bioinformatics
Zakharov G, Eberhardt R, Frolova A, Horyslavets D, Hidari E, Popov I, Dennehy J, Koreshkov M, Antoniou P, Kantsypa V, Ovchinnikov V, Iyer V.   +11 more
europepmc   +1 more source

Molecular profiling of pediatric medulloblastoma in Kazakhstan: Genomic alterations, subgroup distribution, and survival

Brain Pathology, EarlyView.
A practical formalin‐fixed, paraffin‐embedded (FFPE)‐based molecular workflow integrating pathology, immunohistochemistry, and genomic profiling provides clinically meaningful subgroup classification of pediatric medulloblastoma and expands molecular evidence from an underrepresented Central Asian population. Abstract Medulloblastoma is the most common
Aidos Bolatov, Askhat Zhakupov, Aizhan Abdikadirova, Malika Sapargaliyeva, Bakytkali Ibraimov, Zhanat Zhalimbetova, Gabit Ólenbay, Berik Zhetpisbayev, Xingzhi Xu, Mirgul Bayanova   +9 more
wiley   +1 more source

Clinical Utility of Germline Whole-Exome Sequencing Beyond Multigene Panels in Hereditary Cancer. [PDF]

Genes (Basel)
Dell'Elice A, Lombardi L, Anaclerio F, Palmarini C, Canale N, Secondi L, Stratta G, Vitali M, Tavoletta MS, Grossi S, Babore A, Milillo C, Dovizio M, Ballerini P, Gatta V, Stuppia L, Antonucci I.   +16 more
europepmc   +1 more source

Integrated Analysis of HER2 Expression and ERBB2 Alterations in Bladder Cancer

Cancer Science, EarlyView.
Integrated analysis of 445 bladder cancers showed that HER2 membrane expression and ERBB2 amplification are distinct features. HER2 expression overlapped with NECTIN4 expression, whereas ERBB2 amplification was enriched in the LumU subtype and associated with poor prognosis.
Kensuke Hirosuna, Kazuki Nishimura, Moritoshi Sakamoto, Satoshi Tokushige, Keita Nakamori, Tomohisa Matsunaga, Yuki Yoshikawa, Takeshi Tsutsumi, Ryoichi Maenosono, Takuya Tsujino, Masahiko Ajiro, Haruhito Azuma, Akihide Yoshimi, Kazumasa Komura   +13 more
wiley   +1 more source

Whole-Exome Sequencing Identifies Novel CPAMD8 Variants in Congenital Cataract and Candidate Variants in Pathologic Myopia. [PDF]

Mol Genet Genomic Med
Xie QL, Wang Q, Liu Y, Huang T, Li J.
europepmc   +1 more source

Japanese Society for Hereditary Tumors Guidance: Hereditary Cancer Syndromes With Multigene Panel Testing, 2025 Edition

Cancer Science, EarlyView.
Schematic of the clinical algorithm for diagnosing hereditary cancer syndromes using MGPT. ABSTRACT In March 2025, the Japanese Society for Hereditary Tumors and the Ministry of Health, Labour and Welfare (MHLW) Research on Promotion of Cancer Control Program Grant Number JPMH 23EA1037 published the “Japanese Society for Hereditary Tumors Guidance ...
Reiko Yoshida, Akira Hirasawa, Issei Imoto, Tatsuro Yamaguchi, Kensuke Kumamoto, Momoko Araki, Arisa Ueki, Kenta Masuda, Yusaku Urakawa, Noriko Tanabe, Atsushi Watanabe, Makoto Hirata, Tomoyuki Aruga, Takeshi Kuwata, Yoshinaga Okugawa, Keika Kaneko, Hiroko Terui‐Kohbata, Megumi Matsumoto, Sayaka Ueno, Katsutoshi Oda, Hisako Ono, Akihiro Sakurai, Hirotaka Matsui, Gou Yamamoto, Hideki Yamamoto, Yasuko Yamamoto, Masachika Ikegami, Yusuke Ohkuma, Kazuhiko Shien, Shigenobu Suzuki, Shunsaku Takayanagi, Masahiko Tanabe, Hisashi Hasumi, Naohito Hatta, Hiroyoshi Hattori, Hiroyuki Matsubayashi, Wataru Yamagami, Masayoshi Yamada, Kazuyuki Oishi, Tomomi Oka, Shinya Oda, Yusuke Kobayashi, Kazuhiro Takekoshi, Takeshi Nakajima, Yoshiko Nakano, Yoshiko Nakayama, Fumiharu Miura, Yasuyuki Miyakura, Yoshiko Mori, Akiyo Yoshimura, Masato Yonamine, Kunitoshi Shigeyasu, Hiroko Fujita, Mashu Futagawa, Kouji Ohta, Junko Kawano, Tomoharu Tokutomi, Ayaka Sato, Takeshi Makabe, Tomoko Yoshihama, Miki Aitani, Kaori Kimura, Nabue Takaiso, Chikako Tomozawa, Yumie Hiraoka, Manami Matsukawa, Hideyuki Ishida   +66 more
wiley   +1 more source

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory

Clinical Genetics, EarlyView.
Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco, Malin Kvarnung, Anna Hammarsjö, Daniel Nilsson, Bianca Tesi, Britt Marie Anderlid, Giedre Grigelioniene, Maria Johansson Soller, Liselot van der Laan, Charlotte Willfors, Charlotta Ingvoldstad Malmgren, Anna Lindstrand, Tommy Stödberg, Ann Nordgren, Angelica Maria Delgado‐Vega   +14 more
wiley   +1 more source