Results 251 to 260 of about 9,740,536 (302)

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse, Takashi Matsukawa, Yumiko Nakamura, Kazuo Kakinuma, Shoko Ota, Ryo Hara, Saki Nakashima, Kaoru Ito, Yutaro Nakamori, Toshiyuki Kakumoto, Masashi Hamada, Shigenori Kanno, Kyoko Suzuki, Tatsushi Toda   +13 more
wiley   +1 more source

Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield. [PDF]

Hum Mutat
Bonamici L, Artuso L, Marino M, Toss A, Sidoti D, Barbieri E, Venturelli M, Marchi I, Pescucci C, Manfredini R, Papi L, Dominici M, Cortesi L, Tenedini E, Tagliafico E.   +14 more
europepmc   +1 more source

White Matter and Perivascular Imaging Changes in Alzheimer's Disease and Cerebral Amyloid Angiopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peak‐width of skeletonized mean diffusivity (PSMD) and diffusion tensor imaging–analysis along the perivascular space (DTI‐ALPS), reflecting white matter integrity and glymphatic function, are altered in Alzheimer's disease (AD).
Debina Laishram, Guangwei Du, Sangam Kanekar, Nandakumar Nagaraja   +3 more
wiley   +1 more source

Copy number variants in fetuses with isolated and non-isolated increased nuchal translucency detected by chromosomal microarray analysis. [PDF]

Front Genet
Huang S, Wu H, She L, Liu L.
europepmc   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics. [PDF]

Clin Genet
Birnbaum R, Slovik M, Zenvirt S, Livyatan I, Altman I, Gershon S, Rips J, Daum H, Rosenbluh C, Elpeleg O, Meiner V, Frumkin A, Mor-Shaked H, Harel T.   +13 more
europepmc   +1 more source

LYCEUM: learning to call copy number variants on low-coverage ancient genomes. [PDF]

Bioinformatics
Yılmaz MA, Ceylan AA, Kaynar G, Çiçek AE.   +3 more
europepmc   +1 more source

Exploring Copy Number Variants in a Cohort of Children Affected by ADHD: Clinical Investigation and Translational Insights. [PDF]

Genes (Basel)
Mirabella F, Finocchiaro V, Figura M, Galesi O, Elia M, Buono S, Barone R, Rizzo R.   +7 more
europepmc   +1 more source

Clinical Validation of the Belay Ascent™ Test to Report on Chromosomal Arm-Level Aneuploidy and Gene-Level Copy Number Variants in Cerebrospinal Fluid Using Low-Pass Whole-Genome Sequencing. [PDF]

Cancers (Basel)
Nie Q, Schilter KF, Larson A, Udhane V, Keo V, Khurana S, Adams JN, Acevedo A, Sanchez D, Peltier T, Mitchell K, Robinson D, Hernandez KM, Douville C, Bettegowda C, Reddi HV.   +15 more
europepmc   +1 more source

Genomic copy-number variants drive apoptotic evasion underlying acquired resistance to immune checkpoint inhibitors. [PDF]

Immunity
Wu M, Yang S, Yang Z, Fan J, Lomeli SH, Dharanipragada P, Moriceau G, Damoiseaux R, Kelley MC, Prieto-Granada CN, Giubellino A, Nosrati M, Kashani-Sabet M, Kim KB, Johnson DB, Liu S, Lo RS.   +16 more
europepmc   +1 more source