Results 121 to 130 of about 49,281 (297)

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

Association of coarctation of aorta with Turner syndrome: a case report

Frontiers in Pediatrics
BackgroundMonosomy 45,X is commonly associated with congenital heart defects, particularly coarctation of the aorta (CoA). In this case, the patient developed respiratory distress due to hemodynamic instability from a large bidirectional patent ductus ...
Musawer Khan, Sana Imtiaz, Muhammad Shoaib, Malaika Tariq, Sadia Zahra, Awais Sardar, Asif Ullah Khan, Kamil Ahmad Kamil   +7 more
doaj   +1 more source

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

Chromosome analysis of arsenic affected cattle [PDF]

Veterinary World, 2014
Aim: The aim was to study the chromosome analysis of arsenic affected cattle. Materials and Methods: 27 female cattle (21 arsenic affected and 6 normal) were selected for cytogenetical study.
S. Shekhar, A. K. Sahoo, N. Dalai, P. Chaudhary, P. K. Praveen, R. Saikhom, R. Rai   +6 more
doaj  

Isoetes ×atruensis (Isoetaceae – Lycopodiopsida), a new interspecific sterile hybrid from Rajasthan of Western India

Nordic Journal of Botany, EarlyView.
Isoetes ×atruensis hyb. nov. is shown to be a triploid (2n = 3× = 33 + 1) sterile interspecific hybrid between diploid (2n = 2× = 22 + 1) I. coromandelina and tetraploid (2n = 4× = 44 + 1) I. rajasthanensis. It has been found in two locations in Rajasthan, India.
Sarvesh Kumar Singh, Daniel F. Brunton, Pradeep Kumar Shukla, Santosh Kumar Shukla, Nawal Kishore Dubey   +4 more
wiley   +1 more source

Convergent Patterns of Karyotype Evolution Underlying Karyotype Uniformity in Conifers

Advanced Science
AbstractKaryotype diversity plays an important role in speciation and diversification. However, gymnosperms, particularly conifers, exhibit remarkable karyotype uniformity. To explore the evolutionary processes shaping karyotypes in gymnosperms, the karyotype evolutionary history is reconstructed through comparative genomic analyses.
Ren‐Gang Zhang, Hui Liu, Hong‐Yun Shang, Heng Shu, De‐Tuan Liu, Hao Yang, Kai‐Hua Jia, Xiao‐Quan Wang, Wei‐Bang Sun, Wei Zhao, Yongpeng Ma   +10 more
openaire   +3 more sources

Inflammation Associated With Obesity, Aging, and Amyloid Burden in Adults With Down Syndrome

Obesity, EarlyView.
ABSTRACT Objective Adults with Down syndrome (DS) often show elevated systemic inflammation, but the association with obesity, aging, and Alzheimer's disease (AD) pathology is not well understood. Methods Data were drawn from 188 nondemented adults with DS participating in the Alzheimer Biomarkers Consortium‐DS (ABC‐DS). Participants completed clinical
Victoria L. Fleming‐Batayneh, Brian C. Helsel, Lauren T. Ptomey, Benjamin L. Handen, Mark Mapstone, Melissa Petersen, Sharon J. Krinsky‐McHale, Christy L. Hom, Davneet Minhas, Weiquan Luo, Charles Laymon, Joseph H. Lee, Annie Cohen, Beau M. Ances, Adam M. Brickman, Margaret Pulsifer, H. Diana Rosas, Florencia Lai, Shahid H. Zaman, Elizabeth Head, Dana Tudorascu, Julie Price, Fredrick Schmitt, Bradley T. Christian, Ozioma Okonkwo, Sigan L. Hartley, for the Alzheimer Biomarkers Consortium‐Down Syndrome (ABC‐DS) Investigators, Beau M. Ances, Howard F. Andrews, Karen Bell, Rasmus M. Birn, Adam M. Brickman, Peter Bulova, Jeff Burns, Amrita Cheema, Kewei Chen, Bradley T. Christian, Isabel Clare, Ann D. Cohen, Eric W. Doran, Tatiana M. Foroud, Benjamin L. Handen, Jordan Harp, Sigan L. Hartley, Elizabeth Head, Denise Head, Christy Hom, Lawrence Honig, Milos D. Ikonomovic, Sterling C. Johnson, M. Ilyas Kamboh, David Keator, Julia K. Kofler, William Charles Kreisl, Sharon J. Krinsky‐McHale, Florence Lai, Patrick Lao, Charles Laymon, Joseph Hyungwoo Lee, Ira T. Lott, Victoria Lupson, Mark Mapstone, Davneet Singh Minhas, Neelesh Nadkarni, Sid O'Bryant, Deborah Pang, Melissa Petersen, Julie C. Price, Lauren Ptomey, Margaret Pulsifer, Michael S. Rafii, Herminia Diana Rosas, Frederick Schmitt, Nicole Schupf, Wayne P. Silverman, Dana L. Tudorascu, Rameshwari Tumuluru, Badri Varadarajan, Michael A. Yassa, Shahid Zaman, Fan Zhang   +80 more
wiley   +1 more source

Prevalence of chromosomal abnormalities and polymorphisms in 4,672 infertile patients undergoing assisted reproductive techniques in the United Arab Emirates population

Frontiers in Reproductive Health
IntroductionChromosomal abnormalities (CA) are a key genetic contributor to infertility, particularly in regions with high consanguinity. Despite growing utilization of assisted reproductive techniques (ART) in the Gulf region, large-scale cytogenetic ...
Divyesh Upadhyay, Merlin Mary Varghese, Sudha Anandt, Firas Albuz, Rawan Almekosh, Braulio Peramo, Braulio Peramo   +6 more
doaj   +1 more source

A successful in vitro fertilization outcome in a hermaphrodite male

International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 424-425, April 2025.
Shima Elbakhit M. E. Albasha, Sami Saadi Al‐Said, Haitham Tharwat M. H. El Bardisi   +2 more
wiley   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source