Results 141 to 150 of about 55,479 (231)

Expanding the Prenatal Phenotypic Spectrum of TRPV6 Variants With Ocular Anomalies

Prenatal Diagnosis, EarlyView.
Edouard Leyne, Jelena Martinovic, Peter Kamenický, Agnès Linglart, Julien Saada, Alexandra Benachi, Alexandre J. Vivanti, Jérôme Bouligand   +7 more
wiley   +1 more source

Integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant reveals universal TP53 abnormalities

Brain Pathology, EarlyView.
This integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant expands the spectrum of associated genetic changes and underscores the presence of universal TP53 abnormalities at copy number, sequence, and protein expression level, with frequent yet largely unrecognized TP53 copy‐neutral loss of ...
Jorge A. Trejo‐Lopez, Cinthya Zepeda Mendoza, Thomas M. Kollmeyer, Kristen L. Drucker, Vanessa M. Pazdernik, Paul A. Decker, Corinne E. Praska, Jayson Hardcastle, Stephanie Smoley, Matthew Isaacson, Mallika Gandham, Surendra Dasari, Aditya Raghunathan, Caterina Giannini, Gang Zheng, Aaron Wagner, M. Beatriz Lopes, Kar‐Ming A. Fung, JoElle G. Peterson, Andreana L. Rivera, Christopher Rossi, Meggen A. Walsh, Zied Abdullaev, Kenneth Aldape, Martha Quezado, Drew Pratt, Patrick Joseph Cimino, Robert B. Jenkins, Cristiane M. Ida   +28 more
wiley   +1 more source

Etiological diagnosis of miscarriage by combining use of chromosomal microarray analysis and whole-exome sequencing. [PDF]

Eur J Med Res
Zhuang J, Fu W, Gu L, Ye X, Wang J, Chen C.   +5 more
europepmc   +1 more source

Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis. [PDF]

Genes (Basel), 2023
Abarca-Barriga HH, Punil Luciano R, Vásquez Sotomayor F.   +2 more
europepmc   +1 more source

Chromosomal microarray analysis as diagnostic tool: Estonian experience

, 2014
The higher-order architecture of the human genome has been shown to predispose to structural rearrangements, including losses and gains of DNA segments. Most rearrangements have no effect on human phenotype. However, changes in specific genomic regions can cause various pathological conditions, such as abnormal mental and physical development ...
openaire   +1 more source

Molecular and clinical features of a Japanese medulloblastoma cohort: Subgroup‐specific prognostic stratification using economical/accessible diagnostic methods

Brain Pathology, EarlyView.
This study characterizes the molecular subgroup–specific features of a nationwide Japanese cohort comprising 242 medulloblastomas (MBs). Furthermore, we introduce SEE‐6‐CNA, a simple, cost‐effective, and FFPE‐compatible molecular test that is applicable to routine pathology samples and serves as a surrogate for risk stratification in non‐WNT/non‐SHH ...
Kohichi Go, Asako Katsuma, Ema Yoshioka, Tomoko Shofuda, Kohei Fukuoka, Koichi Ichimura, Yuko Matsushita, Yohei Mineharu, Yasuhide Makino, Takeshi Kawauchi, Atsushi Sasaki, Junko Hirato, Takeshi Inoue, Yoshinori Kodama, Masayuki Mano, Daisuke Kanematsu, Noriyuki Kijima, Naoki Kagawa, Dai Keino, Akitake Mukasa, Tomonari Suzuki, Koji Yoshimoto, Daisuke Kuga, Keishi Horiguchi, Shigeru Yamaguchi, Masayuki Kanamori, Kai Yamasaki, Kenichi Ishibashi, Takuya Akai, Masayoshi Yamaoka, Ryuji Ishizaki, Atsufumi Kawamura, Shigeo Ohba, Joji Ishida, Ryo Ando, Junya Fukai, Tomoru Miwa, Masazumi Fujii, Ai Muroi, Kuniaki Saito, Atsuko Harada, Yasuhiko Hayashi, Masahiro Nonaka, Young‐Soo Park, Yusuke Kobayashi, Tadashi Higuchi, Yosuke Miyairi, Kazuhisa Yoshifuji, Noriyoshi Takebe, Soichi Oya, Kosuke Nakajo, Mitsutoshi Nakada, Yoshiteru Nakano, Mizuki Kambara, Koji Adachi, Kazuhiro Tanaka, Hideo Nakamura, Yukihiko Sonoda, Ryuta Saito, Takafumi Wataya, Kazuhiko Kurozumi, Michael D. Taylor, Yoshitaka Narita, Soichiro Shibui, Hajime Arai, Hiroaki Sakamoto, Isao Date, Motoo Nagane, Ryo Nishikawa, Yoshiki Arakawa, Yonehiro Kanemura   +70 more
wiley   +1 more source

Glucose Metabolism Regulating Colorectal Cancer Initiation and Progression

Cancer Science, EarlyView.
Drugs and compounds targeting glycolysis in CRC and the mechanisms by which these drugs inhibit their respective targets. ABSTRACT Colorectal cancer (CRC) is one of the most common types of invasive cancer worldwide, which has the characteristics of poor curative effect and poor prognosis. Increasing evidence suggests that hyperactivated glucose uptake
Meiyi Lin, Junpeng Cui
wiley   +1 more source

A Prospective Evaluation of the Diagnostic Utility for Low-Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis. [PDF]

Prenat Diagn
Yin Y, He Y, Chen C, He Y, Wang J, Qin S, Wang H, Ma K, Hu D, Xiao R, Wang G, Wang X.   +11 more
europepmc   +1 more source

Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder. [PDF]

Mol Genet Genomic Med, 2023
Cucinotta F, Lintas C, Tomaiuolo P, Baccarin M, Picinelli C, Castronovo P, Sacco R, Piras IS, Turriziani L, Ricciardello A, Scattoni ML, Persico AM.   +11 more
europepmc   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source