Results 31 to 40 of about 13,759 (208)

Genetic Abnormalities in a Calf with Congenital Increased Muscular Tonus [PDF]

, 2015
A 2‐week‐old female calf was referred to the Clinic for Ruminants at the Vetsuisse Faculty, University of Berne, Switzerland, with difficulty standing and muscle tremors since birth.
Drögemüller, C., Jagannathan, V., Meylan, M., Riedi, A. K., Wiedemar, N.   +4 more
core   +3 more sources

FIRST EXPERIENCE OF TRANSVERTEBRAL MICROPOLARIZATION OF THE SPINAL CORD IN THE COMPLEX TREATMENT OF UPPER LIMBS DEFORMITIES IN PATIENTS WITH ARTHROGRYPOSIS

Travmatologiâ i Ortopediâ Rossii, 2012
From 2010 till 2011 transvertebral micropolarization of the spinal cord was applied in 14 patients with arthrogryposis and upper limb deformities in the department of arthrogryposis of the Turner Scientific and Research Institute for Children's ...
V. Y. Rozhdestvenskiy, O. E. Agranovich, J. L. Soboleva, S. I. Trofimova   +3 more
doaj   +1 more source

Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)

Frontiers in Pediatrics, 2019
Distal arthrogryposis (DA) is a heterogeneous sub-group of arthrogryposis multiplex congenita (AMC), mostly characterized by having congenital contractures affecting hands, wrists, feet, and ankles.
Muhammad Umair, Muhammad Umair, Amjad Khan, Amjad Khan, Amir Hayat, Safdar Abbas, Abdulaziz Asiri, Abdulaziz Asiri, Muhammad Younus, Wajid Amin, Shoaib Nawaz, Shazia Khan, Erum Malik, Majid Alfadhel, Majid Alfadhel, Farooq Ahmad   +15 more
doaj   +1 more source

Epidemiology and Emergence of Schmallenberg Virus Part 2: Pathogenesis and Risk of Viral Spread [PDF]

, 2016
Schmallenberg virus (SBV) is a novel Orthobunyavirus causing mild clinical signs in cows and malformations in aborted and neonatal ruminants in Europe. SBV belongs to the family Bunyaviridae and is transmitted by biting midges.
Coelho, Ana Cláudia, Cruz, Rita, Esteves, Fernando, Mesquita, João Rodrigo, Monteiro, António, Nóbrega, Cármen, Santos, Carla, Vala, Helena   +7 more
core   +2 more sources

Х-ray anatomical features of dislocated hip in children with arthrogryposis

Travmatologiâ i Ortopediâ Rossii, 2016
The purpose - to identify the Х-ray anatomical features of the dislocated hip in children with arthrogryposis, to compare Х-ray and CT scans of hips in patients with arthrogryposis and DDH. Materials and methods. We examined the 98 X-rays and CT scans of
S. F. Bat’kin, D. V. Barsukov, O. E. Agranovich, M. M. Kamosko   +3 more
doaj   +1 more source

A spectrum of clinical severity of recessive titinopathies in prenatal

Frontiers in Genetics, 2023
Variants in TTN are associated with a broad range of clinical phenotypes, from dominant adult-onset dilated cardiomyopathy to recessive infantile-onset myopathy. However, few foetal cases have been reported for multiple reasons.
Yiming Qi, Yiming Qi, Xueqi Ji, Xueqi Ji, Hongke Ding, Hongke Ding, Yunan Wang, Yunan Wang, Xin Liu, Yan Zhang, Aihua Yin, Aihua Yin   +11 more
doaj   +1 more source

Muscle histopathology in nebulin-related nemaline myopathy : ultrastrastructural findings correlated to disease severity and genotype [PDF]

, 2014
Peer ...
Bellance, Remi, Böhm, Johann, De Winter, Josine M., Estournet, Brigitte, Eymard, Bruno, Fardeau, Michel, Laporte, Jocelyn, Lehtokari, Vilma-Lotta, Lubieniecki, Fabiana, Madelaine, Angéline, Malfatti, Edoardo, Monges, Soledad, Ottenheijm, Coen AC, Pelin, Katarina, Quijano-Roy, Susana, Romero, Norma B., Schäffer, Ursula, Taratuto, Ana Lía, Viou, Mai Thao, Wallgren-Pettersson, Carina, Wu, Bin   +20 more
core   +4 more sources

Ponseti Casting vs. Soft Tissue Release for the Initial Treatment of Non-idiopathic Clubfoot

Frontiers in Surgery, 2021
Purpose: Ponseti casting has universally been accepted as the gold standard for treatment of idiopathic clubfoot. Conversely, primary treatment for non-idiopathic clubfoot has not been established.
Jonathan Abraham, Jon Cooper Wall, Michel Diab, Cody Beaver   +3 more
doaj   +1 more source

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies [PDF]

, 2014
Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy, cap myopathy, core-rod myopathy, congenital fiber-type disproportion, distal arthrogryposes, and Escobar syndrome.
Barnerias, Christine, Beggs, Alan H., Bertini, Enrico, Ceyhan-Birsoy, Özge, Cintas, Pascal, Clarke, Nigel F., de Visser, Marianne, Eymard, Bruno, Frydman, Moshe, Gerard, Marion, Gilbert-Dussardier, Brigitte, Grönholm, Mikaela, Hogue, Jacob S., Kang, Peter B., Klinge, Lars, Kolski, Hanna, Laing, Nigel G., Lehtokari, Vilma-Lotta, Lochmüller, Hans, Longman, Cheryl, Magy, Laurent, Manel, Véronique, Marston, Steven, Marttila, Minttu, Mayer, Michèle, Mercuri, Eugenio, Monnier, Nicole, North, Kathryn N., Nowak, Kristen, Nyman, Tuula A., Pelin, Katarina, Peudenier-Robert, Sylviane, Pihko, Helena, Probst, Frank J., Reisin, Ricardo, Stewart, Willie, Taratuto, Ana Lia, Wallgren-Pettersson, Carina, Wilichowski, Ekkehard, Winder, Tom L., Winer, John   +40 more
core   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source