Results 11 to 20 of about 13,759 (208)

Genetics of Arthrogryposis and Macroglossia in Piemontese Cattle Breed

Animals, 2020
Arthrogryposis and macroglossia are congenital pathologies known in several cattle breeds, including Piemontese. As variations in single genes were identified as responsible for arthrogryposis in some breeds, we decided: (i) to test the hypothesis of a ...
Liliana Di Stasio, Andrea Albera, Alfredo Pauciullo, Alberto Cesarani, Nicolò P. P. Macciotta, Giustino Gaspa   +5 more
doaj   +1 more source

Arthrogryposis multiplex congenita in Aberdeen Angus cattle in Uruguay [PDF]

Pesquisa Veterinária Brasileira, 2020
: Arthrogryposis multiplex congenita is reported for the first time in the Aberdeen Angus (AA) breed in Uruguay. In a commercial herd of 30 purebred Aberdeen Angus cows, two calves with severe musculoskeletal malformations died at birth.
Agustín Romero, Carolina Briano, Fernando Dutra Quintela   +2 more
doaj   +1 more source

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [PDF]

, 2020
Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic ...
Alix, E, Alkaya, DU, Ashrafzadeh, F, Becker, F, Bilguvar, K, Chatron, N, de Bellescize, J, EuroEpinomics-RES consortium AR working group, Gunes, N, Hardies, K, Hussien, H, Karimiani, EG, Kok, F, Labalme, A, Lerche, H, Lesca, G, Maroofian, R, May, P, Morsy, H, Moslemi, A-R, Nabil, A, Najafi, M, Omar, T, Poulat, A-L, Ramos, L, Roselli, S, Sanlaville, D, Schmidts, M, Tajsharghi, H, Tuysuz, B, Weckhuysen, S   +30 more
core   +2 more sources

Cervical Stenosis in Adult Arthrogryposis: A Case Report and Review of the Literature

Journal of Neurological Surgery Reports, 2018
Arthrogryposis multiplex congenita is a rare, nonprogressive congenital disorder that describes a constellation of conditions characterized by multiple joint contractures. Spinal pathology and deformity are common; however, the majority of the literature
Allen L. Ho, Jyodi Mohole, Eric S. Sussman, Arjun V. Pendharkar, Harminder Singh   +4 more
doaj   +1 more source

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
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An arthrogrypotic medical doctor with cervical kyphosis and thoracic lordoscoliosis

Bone Reports, 2017
Management of spinal deformities in a patient with arthrogryposis can be challenging for spine surgeons. The literature about the accompaniment of scoliosis; the most common spine deformity reported in arthrogryposis, is still poor.
Manouchehr Safdarian, Mahdi Safdarian
doaj   +1 more source

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]

, 2010
Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F, Bottani, A, Breckpot, J, Cheung, SW, Devriendt, K, Fong, CT, Friedman, JM, Fryns, JP, Gimelli, S, Gorski, JL, Grange, DK, Kussmann, JL, Menten, Björn, Morris, MM, Mortier, Geert, Philip, N, Salamone, JM, Scalais, E, Thienpont, B, Van Esch, H, Vermeesch, JR, Villard, L, Yong, SL, Zahir, F   +23 more
core   +2 more sources

The Application of Three-dimensional Ultrasonography in the Prenatal Diagnosis of Arthrogryposis

Taiwanese Journal of Obstetrics & Gynecology, 2008
Summary: Objective: To present the application of three-dimensional (3D) ultrasonography in the early prenatal diagnosis of fetal arthrogryposis. Case Report: A 26-year-old multipara had a fetus with anomalies of the limbs as shown by conventional ...
I-Wen Lin, Ho-Yen Chueh, Shuenn-Dyh Chang, Po-Jen Cheng   +3 more
doaj   +1 more source

Test–retest reliability for performance-based outcome measures among individuals with arthrogryposis multiplex congenita

BMC Musculoskeletal Disorders, 2022
Background Most individuals with arthrogryposis multiplex congenita, a rare condition characterized by joint contractures in ≥ 2 body regions, have foot and ankle involvement leading to compromised gait and balance.
Jaclyn Megan Sions, Maureen Donohoe, Emma Haldane Beisheim-Ryan, Ryan Todd Pohlig, Tracy Michele Shank, Louise Reid Nichols   +5 more
doaj   +1 more source

Characteristics of electrophysiological activity of the cerebral cortex in children with arthrogryposis

Нервно-мышечные болезни, 2018
Background. Arthrogryposis is one of the most severe congenital abnormalities of the musculoskeletal system characterized by 2 or more contractures of the large joints, muscle and anterior grey column pathology.
E. D. Blagoveschenskiy, O. E. Agranovich, E. L. Kononova, A. G. Baindurashvili, M. A. Nazarova, A. N. Shestokova, E. L. Gabbasova, V. V. Nikulin   +7 more
doaj   +1 more source