Results 51 to 60 of about 44,893 (265)

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian   +15 more
wiley   +1 more source

Un ravissant souvenir de mon stage chez le laboratoire de Jérôme Lejeune. A delightful memory from my stay at Jerôme Lejeune’s laboratory

Anales de la Facultad de Medicina, 2016
For Number 2 of Volume 2 of AnFaMed we asked Prof. Máximo Drets to write a review article on the origins of clinical genetics and cytogenetics in Uruguay.
Máximo Drets
doaj   +2 more sources

Biological Dosimetry - Cytogenetics Findings At Persons Occupationally Exposed To Ionizing Radiation

Biomolecules & Biomedicine, 2006
A large number of physical and chemical agents are capable to course chromosomal aberrations. Ionizing radiation is frequent and well known course of chromosomal aberrations. If deoxyribonucleic acid (DNA) is irradiated before synthesis chromosomal-type
Amra Ćatović, Fikreta Tanacković
doaj   +1 more source

Cytogenetics in retinoblastomas

Indian Journal of Ophthalmology, 1975
Rao K, Rao C, Radhakrishna G
doaj   +2 more sources

Leaf micromorphology and genetic diversity analysis of Iranian Hordeum species using ISSR and SCoT markers

Nordic Journal of Botany, EarlyView.
The genus Hordeum (Poaceae), of the tribe Triticeae, comprises approximately 32 species with substantial potential for barley improvement. Hordeum vulgare is an economically important cereal widely cultivated across diverse environments, from the Arctic to desert and humid regions.
Maryam Keshavarzi, Raheleh Tabaripour, Nasrin Farasat   +2 more
wiley   +1 more source

Analysis of the Metaphase Chromosome Karyotypes in Imaginal Discs of Aedes communis, Ae. punctor, Ae. intrudens, and Ae. rossicus (Diptera: Culicidae) Mosquitoes

Insects, 2020
In this study, cytogenetic analysis of the metaphase chromosomes from imaginal discs of Aedes (Diptera: Culicidae) mosquitoes—Aedes communis, Ae. punctor, Ae. intrudens, and Ae. rossicus—was performed.
Svetlana S. Alekseeva, Yulia V. Andreeva, Irina E. Wasserlauf, Anuarbek K. Sibataev, Vladimir N. Stegniy   +4 more
doaj   +1 more source

Optical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia

The Journal of Pathology, EarlyView.
Abstract Reliable detection of structural variants (SVs) and copy number variations (CNVs) is crucial in the contemporary diagnostics of pediatric B‐cell acute lymphoblastic leukemia (B‐ALL). However, limitations of commonly used conventional and molecular cytogenetic methods may hinder the accurate genetic characterization of patients.
Anna Bekő, Borbála Péterffy, Alex Hughes, Janka Sára Jakab, Irén Haltrich, Kristóf Balázs Árvai, Gábor Bedics, Katalin Csonka, Gergő Papp, Dóra Kapczár, Bettina Aranka Bohusné Barta, Lajos László Hegyi, Gábor Szalóki, Gábor Barna, András Matolcsy, Bálint Egyed, Zsuzsanna Hevessy, Anne Benard‐Slagter, Sander Palit, Suvi Savola, Csaba Bödör, Donát Alpár   +21 more
wiley   +1 more source

Corrigenda: Bhowmick BK, Jha S (2022) A critical review on cytogenetics of Cucurbitaceae with updates on Indian taxa. Comparative Cytogenetics 16(2): 93–126. https://doi.org/10.3897/compcytogen.v16.i2.79033 [PDF]

Comparative Cytogenetics
The cytogenetic relationships in the species of Cucurbitaceae are becoming immensely important to answer questions pertaining to genome evolution. Here, a simplified and updated data resource on cytogenetics of Cucurbitaceae is presented on the basis of ...
Biplab Kumar Bhowmick, Sumita Jha
doaj   +3 more sources

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

CILTACABTAGENE AUTOLEUCEL VS STANDARD OF CARE IN LENALIDOMIDE-REFRACTORY MULTIPLE MYELOMA: PHASE 3 CARTITUDE-4 SUBGROUP ANALYSIS BY CYTOGENETIC RISK

Hematology, Transfusion and Cell Therapy
Background: The prognosis for patients (pts) with multiple myeloma (MM) who have high-risk (HR) cytogenetics is poor. In the phase 3 CARTITUDE-4 trial, ciltacabtagene autoleucel (cilta-cel) vs standard of care (SOC) significantly improved progression ...
R Mina, B Dhakal, J San-Miguel, N Lendvai, M Vogel, K Li, D Chen, N Patel, H Einsele, J Martinez-Lopez   +9 more
doaj   +1 more source