Results 331 to 340 of about 1,506,824 (383)

Decoding Gene Expression Changes in Cerebral Tumors: Before and After Radiotherapy

Medicinal Research Reviews, EarlyView.
ABSTRACT Cerebral tumors, particularly in pediatric patients, pose a significant challenge in oncology. Radiotherapy is a crucial component of the multimodal treatment approach for these tumors. Understanding the molecular basis of these tumors, particularly their response to radiotherapy, is crucial for improving treatment outcomes and patient ...
Ahana Maitra, Morena Miciaccia, Manuela Mandorino, Domenico Armenise, Olga Maria Baldelli, Savina Ferorelli, Ludmila Papusha, Alexander Druy, Maria Grazia Perrone, Antonio Scilimati   +9 more
wiley   +1 more source

Missense mutation of angiotensin converting enzyme gene in an Alzheimer's disease patient: a case report. [PDF]

Front Neurosci
He M, Zhang F, Qi J, Zhang W.
europepmc   +1 more source

Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival

Movement Disorders Clinical Practice, EarlyView.
Silvestre Cuinat, Christèle Dubourg, Gaël Nicolas, Jean‐Madeleine de Sainte Agathe, Sylvie Odent, Laurent Pasquier, Audrey Riou   +6 more
wiley   +1 more source

Analysis of IDH1 and IDH2 mutations as causes of the hypermethylator phenotype in colorectal cancer

The Journal of Pathology, EarlyView.
Abstract The CpG island methylator phenotype (CIMP) occurs in many colorectal cancers (CRCs). CIMP is closely associated with global hypermethylation and tends to occur in proximal tumours with microsatellite instability (MSI), but its origins have been obscure.
Joseph C Ward, Melissa Morgan, James Wood, Connor Woolley, Albert Antao Nobre de Menezes, Alina Finch, Kitty Sherwood, Qiwen Huang, Chloe S Henry, Juan Fernández‐Tajes, Ignacio Soriano, Steve Thorn, Isabelle Legge, James McCullagh, David Kerr, Rachel Kerr, Rahul K Hejmadi, Mark J Arends, The S:CORT Consortium, Richard Adams, Simon Bach, Andrew Beggs, Louise Brown, Francesca Buffa, Jean‐Baptiste Cazier, Enric Domingo, Andrew Blake, Che‐Hsi Wu, Ekaterina Chatzpili, Susan Richman, Philip Dunne, Paul Harkin, Geoff Higgins, Jim Hill, Chris Holmes, Denis Horgan, Rick Kaplan, Richard Kennedy, Mark Lawler, Simon Leedham, Ultan McDermott, Gillies McKenna, Gary Middleton, Dion Morton, Graeme Murray, Philip Quirke, Manuel Salto‐Tellez, Les Samuel, Anna Schuh, David Sebag‐Montefiore, Matt Seymour, Ricky Sharma, Richard Sullivan, Ian Tomlinson, Nicholas West, Richard Wilson, Enric Domingo, Timothy Maughan, Chiara Bardella, Ian Tomlinson   +59 more
wiley   +1 more source

Missense mutation of NRAS is associated with malignant progression in neurocutaneous melanosis. [PDF]

Acta Neuropathol Commun
Takahashi H, Natsumeda M, Hara N, Koyama A, Shimizu H, Miyashita A, Satake D, Mouri Y, Tsukano J, Kawabe K, Tsukamoto Y, Okada M, Ogura R, Yuki A, Umezu H, Kakita A, Ikeuchi T, Oishi M.   +17 more
europepmc   +1 more source

Functional Movement Disorder in Familial Ataxia: A Case Report of Monozygotic Twins

Movement Disorders Clinical Practice, EarlyView.
Daniela Kern, Christian Windpassinger, Petra Schwingenschuh   +2 more
wiley   +1 more source

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES) for genetic diagnosis.
Yan Lü, Yi Yu, Jiazhen Chang, Mengmeng Li, Xueting Yang, Xiya Zhou, Na Hao, Hua Meng, Zhenghong Li, Lishuang Ma, Hui You, Shan Jian, Ying Wang, Shengjie Li, Yiqing Yu, Kaili Yin, Mingming Wang, Yulin Jiang, Qingwei Qi   +18 more
wiley   +1 more source

A Novel De Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis. [PDF]

Int J Mol Sci
Bernard E, Cluse F, Bohic A, Hermier M, Raoul C, Leblanc P, Guissart C.   +6 more
europepmc   +1 more source

Rediscovery of the Tubulin β‐4A p.Arg2Gly Variant in Whispering Dysphonia: A Report from Austria

Movement Disorders, EarlyView.
Omar Keritam, Susann Badmann, Maureen Jacob, Philip Harrer, Christine Klein, Annabella Kurz, Hakan Cetin, Michael Zech   +7 more
wiley   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source