Results 141 to 150 of about 287,824 (375)

Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay [PDF]

, 2021
Dongmei Hao, Yajuan Li, Lisha Chen, Xiliang Wang, Mengxing Wang, Yuexin Yu   +5 more
openalex   +1 more source

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

Shared Genetic Effects and Antagonistic Pleiotropy Between Multiple Sclerosis and Common Cancers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epidemiologic studies have reported inconsistent altered cancer risk in individuals with multiple sclerosis (MS). Factors such as immune dysregulation, comorbidities, and disease‐modifying therapies may contribute to this variability.
Asli Buyukkurt, Marius Ygonia, Ali Manouchehrinia, Philippe Lefrançois, Ingrid Kockum, Adil Harroud   +5 more
wiley   +1 more source

On the nobility of urban notables [PDF]

, 2005
The claim to be a descendant of the Prophet Muhammad (teseyyüd) was a widespread phenomenon that afflicted the Ottoman Empire from the sixteenth century onwards.
Canbakal, Hulya, Canbakal, Hülya
core  

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

Helium: Visualization of Large Scale Plant Pedigrees [PDF]

, 2014
Paul David Shaw, Martin Graham, Jessie Kennedy, Iain Milne, David Marshall   +4 more
openalex   +1 more source

Development of a Personalized Visualization and Analysis Tool to Improve Clinical Care in Complex Multisystem Diseases With Application to Scleroderma

Arthritis Care &Research, EarlyView.
Objective In complex diseases, it is challenging to assess a patient's disease state, trajectory, treatment exposures, and risk of multiple outcomes simultaneously, efficiently, and at the point of care. Methods We developed an interactive patient‐level data visualization and analysis tool (VAT) that automates illustration of the trajectory of a ...
Ji Soo Kim, John Scott, Lauren Fisher, Lauren N. Smith, Willie Stewart, Adrianne Woods, Rob Smithwright, Diane Koher, Parastoo Aslanbeik, Aalok B. Shah, Brad Tibbils, Samantha I. Pitts, Ayse P. Gurses, Yushi Yang, Ana‐Maria Orbai, Antony Rosen, Laura K. Hummers, Scott L. Zeger, Ami A. Shah   +18 more
wiley   +1 more source

BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature. [PDF]

, 2019
BackgroundHereditary colon cancer is characterized by the inheritance of an abnormal gene mutation which predisposes to malignancy. Recent advances in genomic medicine have identified mutations in "novel" genes as conferring an increased risk of ...
Ali, Mir, Chaudhary, Uzair, Delozier, Celia Dawn   +2 more
core  

Serum Uric Acid Levels in Older Adults: Associations With Clinical Outcomes and Implications for Reference Intervals in Those Aged 70 Years and Over

Arthritis Care &Research, EarlyView.
Objective Reports have linked both high and low serum uric acid (SUA) levels to adverse health outcomes. This study aimed to establish a reference interval for SUA in older adults and assessed its association with clinically relevant outcomes in relatively healthy, community‐dwelling individuals aged ≥70 years old.
Amanda J. Rickard, Cammie Tran, Hans G. Schneider, Flavia M. Cicuttini, Anita E. Wluka, Ego Seeman, Johannes T. Neumann, Md Nazmul Karim, Zhen Zhou, Sultana Monira Hussain, David P. Q. Clark, Daniel Clayton‐Chubb, Andrew M. Tonkin, Lawrence J. Beilin, Robyn L. Woods, John J. McNeil   +15 more
wiley   +1 more source

Case Report: Investigation and characterization of a multiple endocrine neoplasia type 1 case and its pedigree

Frontiers in Endocrinology
Multiple Endocrine Neoplasia Type 1 (MEN1) is an autosomal dominant inherited disease characterized by the combined occurrence of tumors in multiple endocrine organs.
Yifan Liu, Ling Cui, Shiwei Wang, Yanyan Chen, Ting Huang, Xin Hou   +5 more
doaj   +1 more source