Results 111 to 120 of about 68,138 (259)

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Evaluation and comparison of performances of six commercial NSP ELISA assays for foot and mouth disease virus in Thailand

Scientific Reports
ELISA kits that detect antibodies to the non-structural protein (NSP) of the foot-and-mouth disease virus (FMDV), commonly referred to as NSP-ELISA, can distinguish between vaccinated and naturally infected animals.
Kingkarn Boonsuya Seeyo, Amonrat Choonnasard, Jeeranant Chottikamporn, Sopha Singkleebut, Parichart Ngamsomsak, Karnrawee Suanpat, Nagendrakumar Singanallur Balasubramanian, Wilna Vosloo, Katsuhiko Fukai   +8 more
doaj   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot, Mariya Raykova, Claire Huzar, Véronique Thellier, Nicolas Hergibo, Marjolaine Gauthier, Gipsy Billy‐Lopez, Chantal Durand, Frédérique Nugues, Véronique Bourg, Klaus Dieterich   +10 more
wiley   +1 more source

Phase Ib study of anlotinib combined with TQB2450 in pretreated advanced biliary tract cancer and biomarker analysis

Hepatology, EarlyView., 2022
Phase 1b study of anlotinib combined with TQB2450 in pretreated advanced biliary tract cancer and biomarker analysis. Abstract Background and Aims We evaluated the efficacy and safety of the antiangiogenic tyrosine kinase inhibitor anlotinib plus TQB2450, a programmed death‐ligand 1 inhibitor in pretreated advanced biliary tract cancers (BTCs ...
Jun Zhou, Yongkun Sun, Wen Zhang, Jiajia Yuan, Zhi Peng, Wei Wang, Jifang Gong, Lin Yang, Yanshuo Cao, Hong Zhao, Chao Chen, Weifeng Wang, Lin Shen, Aiping Zhou   +13 more
wiley   +1 more source

Efficacy and Predictors of Response to Biologic Therapy and Endoscopic Sinus Surgery in Patients With Nasal Polyps: A Systematic Review

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Biologics and endoscopic sinus surgery (ESS) treat refractory chronic rhinosinusitis with nasal polyposis (CRSwNP), but direct comparisons are lacking. We synthesized efficacy and subgroup data across randomized controlled trials (RCTs) of biologics and ESS.
Arun Chakravorty, Matthew E. Lin, Rory Lubner, Jess C. Mace, Jeffrey Suh, Jivianne Lee, Marilene Wang, Sarah Wise, Naweed Chowdhury, Zachary M. Soler, Justin Turner, Timothy L. Smith, Myung Sim, Daniel M. Beswick   +13 more
wiley   +1 more source

The Impact of Foot and Mouth Disease Outbreaks in Taiwan and South Korea on the Red Meat Industries in Canada and the United States [PDF]

In addition to trade liberalization, other factors have contributed to the strong growth of red meat production in Canada since the end of the 1980s. In particular, the outbreaks of foot and mouth disease (FMD) in Taiwan and in South Korea eliminated two
Gagne, Stephan, Charlebois, Pierre
core  

Epidemiological and risk-based approaches to accelerating achievement of foot and mouth disease free-zone in the Malaysia-Thailand-Myanmar peninsula [PDF]

, 2012
The main purpose of this research was to identify factors which threaten the success of the Malaysia Thailand Myanmar (MTM) Campaign and to consider ways in which Foot and Mouth Disease (FMD) control may be improved such that Free Zone status can be more
Smith, Polly
core