المؤلفون: Chrisantha Halahakoon, Amy Henderson, Helen McDermott, Richard Heaver, Helen Cox, Hannah K. Robinson, Swati Naik

المصدر: Neuromuscular Disorders. 31:783-787

مصطلحات موضوعية: Arthrogryposis, Proband, Pathology, medicine.medical_specialty, business.industry, Compound heterozygosity, medicine.disease, Congenital myopathy, Frameshift mutation, Exon, Neurology, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Congenital contracture, medicine.symptom, business, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d7d6609ffb3792cfdcbff37b424319a1
https://doi.org/10.1016/j.nmd.2021.05.004

المؤلفون: Marcia C. Willing, Sonika Dahiya, Jennifer A. Wambach, Krista Bluske, Daniel J. Wegner, Ryan J. Taft, Marwan Shinawi, Frances V. White, William McAllister, F S Cole, Amanda Buchanan, Dustin Baldridge, Robert C. Bucelli, Kristen K Rosano

المصدر: American Journal of Medical Genetics Part A. 185:2190-2197

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Arthrogryposis, Proband, Pathology, medicine.medical_specialty, Arthrogryposis multiplex congenita, business.industry, Spinal muscular atrophy, 030105 genetics & heredity, medicine.disease, Phenotype, 03 medical and health sciences, Pulmonary hypoplasia, 030104 developmental biology, RNA splicing, Genetics, medicine, Congenital contracture, medicine.symptom, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::61bc1f195d368989723bc4a7426fe9f6
https://doi.org/10.1002/ajmg.a.62219

المؤلفون: Olga E. Agranovich, Elena L. Gabbasova, Galina A. Ikoeva, Andrey V. Sapogovskiy, Evgeniy V. Melchenko, Vladimir Kenis, Ekaterina V. Petrova

المصدر: Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. 9:115-126

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Palsy, Flaccid paralysis, business.industry, nervous system diseases, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, 030225 pediatrics, Peripheral nervous system, Pediatrics, Perinatology and Child Health, Paralysis, medicine, Orthopedics and Sports Medicine, Surgery, Congenital contracture, medicine.symptom, Differential diagnosis, business, Brachial plexus, 030217 neurology & neurosurgery, Paresis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::16fc3af97fe9bacc589438b06ee420d9
https://doi.org/10.17816/ptors18645

المؤلفون: Elena Shagimardanova, Leila H. Shigapova, Margarita V. Savina, Svetlana V. Sarantseva, Evgenija A. Kochenova, Alexandra D. Slobodina, Olga E. Agranovich, Artem E Komissarov, Svetlana I. Trofimova, Elena L. Gabbasova

المصدر: Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. 8:333-342

مصطلحات موضوعية: 0301 basic medicine, TRPV4, Sensory motor, medicine.medical_specialty, business.industry, Disease, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Physical medicine and rehabilitation, Pediatrics, Perinatology and Child Health, Orthopedic surgery, medicine, Orthopedics and Sports Medicine, Surgery, Congenital contracture, Differential diagnosis, business, Polyneuropathy, 030217 neurology & neurosurgery, Muscle contracture

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d8407b7f45018cbaaa8af45553c2c943
https://doi.org/10.17816/ptors21182

المؤلفون: Christina A. Gurnett, Matthew B. Dobbs, Aaron N. Johnson, Julia Whittle

المصدر: Genes
Genes, Vol 12, Iss 943, p 943 (2021)

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, contracture, Disease, Review, 030105 genetics & heredity, QH426-470, arthrogryposis, Mice, 03 medical and health sciences, medicine, Genetics, Animals, Zebrafish, Genetics (clinical), Arthrogryposis, biology, business.industry, Lethal congenital contracture syndrome, congenital, Skeletal muscle, biology.organism_classification, medicine.disease, Phenotype, Disease Models, Animal, Drosophila melanogaster, 030104 developmental biology, medicine.anatomical_structure, Genetic Loci, Mutation, Congenital contracture, medicine.symptom, Contracture, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53424b130ff9401104aef1183944ba28
http://europepmc.org/articles/PMC8234565

المؤلفون: Kenji Kurosawa, Noriko Aida, Tatsuro Kumaki, Yumi Enomoto, Tomohide Goto

المصدر: Pediatrics International. 64

مصطلحات موضوعية: Arthrogryposis, Cerebellum, Contracture, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, Anatomy, medicine.disease, Magnetic Resonance Imaging, Hypotonia, medicine.anatomical_structure, Neurodevelopmental disorder, Face, Pediatrics, Perinatology and Child Health, medicine, Humans, Muscle Hypotonia, Cerebellar atrophy, Congenital contracture, Atrophy, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faa39096e71879960ba265ea2cfcbfc2
https://doi.org/10.1111/ped.14734

المؤلفون: Epitácio Leite Rolim Filho, Ana Claudia Marques Gouveia de Melo, Vanessa van der Linden, Otávio Gomes Lins, Sarah Costa Serpa

المصدر: Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.

مصطلحات موضوعية: Arthrogryposis, Denervation, Muscle Denervation, Pediatrics, medicine.medical_specialty, Microcephaly, biology, medicine.diagnostic_test, Physiology, business.industry, Electromyography, biology.organism_classification, medicine.disease, Zika virus, Neurology, Physiology (medical), medicine, Hypertonia, Neurology (clinical), Congenital contracture, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4451932fc2f6c4d1b6fbdcc56a4fd13a
https://pubmed.ncbi.nlm.nih.gov/34510092

المؤلفون: A. O. Borovikov, I. V. Sharkova, O. P. Ryzhkova, A. L. Chukhrova, O. A. Schagina, T. V. Markova, E. L. Dadali

المصدر: Nervno-Myšečnye Bolezni, Vol 9, Iss 1, Pp 83-91 (2019)

مصطلحات موضوعية: autosomal dominant type of inheritance, 0301 basic medicine, Genetics, Autosomal dominant type, Muscular hypotonia, Psychomotor retardation, business.industry, syndrome of congenital contractures of the limbs and face in combination with muscular hypotonia and psychomotor retardation, Distal arthrogryposis, 03 medical and health sciences, nalcn gene, 030104 developmental biology, 0302 clinical medicine, Neurology, Medicine, Missense mutation, Neurology. Diseases of the nervous system, Neurology (clinical), Congenital contracture, medicine.symptom, RC346-429, business, 030217 neurology & neurosurgery, NALCN gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::591c4d125bf93b1a39b77b65195b8fd7
https://doi.org/10.17650/2222-8721-2019-9-1-83-91

المؤلفون: Craig Campbell, Eugenio Zapata-Aldana, Sulaiman B Al-Mobarak, Natalya Karp

المصدر: Paediatrics Publications

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Canada, Genotype, 030105 genetics & heredity, Biology, Pediatrics, Short stature, Ion Channels, 03 medical and health sciences, Ptosis, Marden–Walker syndrome, Genetics, medicine, Humans, Genetic Predisposition to Disease, Clinical significance, Genetic Testing, Alleles, Genetic Association Studies, Genetics (clinical), Arthrogryposis, Proprioception, Infant, Newborn, Facies, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, arthrogryposis multiple, distal arthrogryposis, mechanotransduction, Piezo2, restrictive pulmonary function, Child, Preschool, Mutation, PIEZO2 Gene, Female, Congenital contracture, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34331b004256ed947798a00a307ba952
https://doi.org/10.1002/ajmg.a.61143

المؤلفون: Justyna Paprocka, Maria M. Sasiadek, Małgorzata Rydzanicz, Robert Smigiel, Mateusz Biela, Agnieszka Pollak, Rafał Płoski, Magdalena Klaniewska, Monika Gos, Ewelina Wolańska, Maria Jędrzejowska, Emilia Dębek

المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: 0301 basic medicine, Proband, Pediatrics, medicine.medical_specialty, media_common.quotation_subject, Nonsense, Case Report, QH426-470, 030105 genetics & heredity, DAIPT, Compound heterozygosity, arthrogryposis, Frameshift mutation, 03 medical and health sciences, Genetics, medicine, Genetics (clinical), Exome sequencing, media_common, Arthrogryposis, impaired proprioception and touch, business.industry, heterozygous mutation, medicine.disease, 030104 developmental biology, Dysplasia, Molecular Medicine, PIEZO2, Congenital contracture, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d9d6b890c292c80e4a8d0fb6350b356
https://doi.org/10.3389/fgene.2021.620752

المؤلفون: Yongbin Gao, Jin Zhu, Jing Sun, Wen Guo, Ge Xiong

المصدر: The Journal of Hand Surgery. 47:579.e1-579.e9

مصطلحات موضوعية: Flexion contracture, medicine.medical_specialty, Contracture, medicine.diagnostic_test, business.industry, Ultrasound, Ulna, Magnetic resonance imaging, Soft tissue pathology, Ischemic Contracture, Musculoskeletal Abnormalities, Surgery, Fingers, Grip strength, Child, Preschool, medicine, Humans, Orthopedics and Sports Medicine, Congenital contracture, Differential diagnosis, Muscle, Skeletal, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24ee0393194efef96250e09a1ed6639b
https://doi.org/10.1016/j.jhsa.2021.06.008

المؤلفون: Haodong Zhou

المصدر: BioEssays : news and reviews in molecular, cellular and developmental biologyREFERENCES. 43(5)

مصطلحات موضوعية: musculoskeletal diseases, Arthrogryposis, 0303 health sciences, Arthrogryposis multiplex congenita, Joint formation, Movement, Parturition, Experimental Animal Models, Biology, Embryonic stem cell, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, medicine, Animals, Female, Congenital contracture, Signal transduction, Contracture, medicine.symptom, Neuroscience, 030217 neurology & neurosurgery, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63f58add0d200e0bc13abd94729f14c2
https://pubmed.ncbi.nlm.nih.gov/33634512

المؤلفون: Marušić, Romana, Karl, Dora, Jurić, Petra, Pušeljić, Silvija, Milas, Vesna.

مصطلحات موضوعية: arthrogryposis, congenital contracture, joint contracture

URL الوصول: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::31413af1f7174ce2c2a650162c4dcef0
https://www.bib.irb.hr/1246697

المؤلفون: Marc Bartoli, Christophe Boulay, Francesca Albertini, Mathieu Cerino, Nicole Philip, Brigitte Chabrol, Frédérique Audic, Chloé Di Meglio, Nicolas Lévy, Florence Riccardi, Martin Krahn

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), GIPTIS (Genetics Institute for Patients, Therapies Innovation & Science), AFM‐Téléthon. Grant Number: 19272Fondation Maladies Rares, Assistance Publique ‐ Hôpitaux de Marseille, Institut National de la Santé et de la Recherche Médicale

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. 2020, 8 (8), ⟨10.1002/mgg3.1277⟩
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Nucleocytoplasmic Transport Proteins, [SDV]Life Sciences [q-bio], congenital GLE1 mild mutation myopathy NGS, GLE1, 030105 genetics & heredity, Amyotrophic lateral sclerosis, Child, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Arthrogryposis, Clinical Report, Homozygote, 3. Good health, Pedigree, Phenotype, NGS, Child, Preschool, Medical genetics, Female, medicine.symptom, myopathy, medicine.medical_specialty, lcsh:QH426-470, Myotonia Congenita, Neonatal onset, Clinical Reports, Diagnosis, Differential, 03 medical and health sciences, Genetics, medicine, mild, Humans, Point Mutation, Myopathy, Molecular Biology, business.industry, Lethal congenital contracture syndrome, congenital, medicine.disease, Congenital myopathy, lcsh:Genetics, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, mutation, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Congenital disorder

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aff38e8738f35b692b5755a40c0a2de4
https://hal-amu.archives-ouvertes.fr/hal-03222418

المؤلفون: Sakthivel Sadayappan, Taejeong Song, Danielle Stiene, Darshini Desai

المصدر: Frontiers in Physiology, Vol 11 (2020)
Frontiers in Physiology

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Physiology, Cardiomyopathy, Review, Gene mutation, lcsh:Physiology, MYBPC1, Heart disorder, MYBPC2, Physiology (medical), medicine, distal arthrogryposis, titin, Joint Contracture, Myopathy, Muscle contracture, biology, lcsh:QP1-981, business.industry, Lethal congenital contracture syndrome, medicine.disease, striated muscle, biology.protein, LCCS4, Titin, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9205b7db39479c000888a477a45a2c9b
https://www.frontiersin.org/article/10.3389/fphys.2020.00689/full

المؤلفون: André Mégarbané, Stephanie Antoun, Sandra Sabbagh

المصدر: Case Reports in Medicine
Case Reports in Medicine, Vol 2020 (2020)

مصطلحات موضوعية: Arthrogryposis, 0303 health sciences, Pediatrics, medicine.medical_specialty, Polyhydramnios, Respiratory distress, business.industry, Lethal congenital contracture syndrome, 030305 genetics & heredity, Case Report, General Medicine, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Neonatal hypotonia, Paralysis, Medicine, medicine.symptom, business, Gene, 030217 neurology & neurosurgery, CONTACTIN-ASSOCIATED PROTEIN

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd72f8e152858b16b5d9174fa742155c
http://europepmc.org/articles/PMC7174947

المؤلفون: Gerard Pals

المصدر: Journal of Biomedicine and Translational Research, Vol 4, Iss 2, Pp 33-40 (2018)

مصطلحات موضوعية: Marfan syndrome, musculoskeletal diseases, medicine.medical_specialty, lcsh:R5-920, business.industry, Index finger, Wrist, Thumb, medicine.disease, Sudden death, Surgery, body regions, Arachnodactyly, medicine.anatomical_structure, aortic aneurysm, losartan, medicine, Severe Myopia, Congenital contracture, FBN1, business, lcsh:Medicine (General)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8ee9b488590ba0d5d66adc065e62a2a
https://ejournal2.undip.ac.id/index.php/jbtr/article/view/3560

المؤلفون: Małgorzata Rydzanicz, Piotr Gasperowicz, Maria Jędrzejowska, Elżbieta Ciara, Aleksandra Jezela-Stanek, Paulina Halat, Bartłomiej Kowalczyk, Monika Gos, Emilia Dębek, Anna Kostera-Pruszczyk

المصدر: Muscle & Nerve. 59:129-133

مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, Weakness, Physiology, business.industry, Congenital distal spinal muscular atrophy, Cranial nerves, Scoliosis, 030105 genetics & heredity, medicine.disease, Bioinformatics, Hypotonia, 03 medical and health sciences, Cellular and Molecular Neuroscience, symbols.namesake, 0302 clinical medicine, Physiology (medical), Anticipation (genetics), symbols, Medicine, Neurology (clinical), Congenital contracture, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f822c0ff192980a585cf292f78185585
https://doi.org/10.1002/mus.26346

المؤلفون: James L. W. Bain, Michael W. Lawlor, Hui Meng, Emily M. Siebers, R. Scott Pearsall, Danny A. Riley, Jennifer Tinklenberg, Margaret Beatka

المصدر: Muscle & Nerve. 58:718-725

مصطلحات موضوعية: 0301 basic medicine, Treatment response, Muscle shortening, Physiology, business.industry, Longitudinal muscle, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Physiology (medical), Anesthesia, medicine, In patient, Neurology (clinical), Congenital contracture, Ankle, Contracture, medicine.symptom, business, Intramuscular injection, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::07e83d7c90a078359f50d78c359c6061
https://doi.org/10.1002/mus.26296

المؤلفون: Bahauddin H. Dolgiev, Yuriy E. Garkavenko, Ivan N. Krasnogorskiy

المصدر: Ortopediâ, Travmatologiâ i Vosstanovitelʹnaâ Hirurgiâ Detskogo Vozrasta, Vol 6, Iss 2, Pp 79-85 (2018)

مصطلحات موضوعية: business.industry, congenital, lcsh:RJ1-570, contracture, Soft tissue, lcsh:Pediatrics, Anatomy, medicine.disease, iliotibial tract, Iliotibial tract, body regions, medicine.anatomical_structure, children, Pediatrics, Perinatology and Child Health, medicine, Orthopedics and Sports Medicine, Surgery, Congenital contracture, Contracture, medicine.symptom, business, Gluteal muscles, Right Thigh, Pelvis, Valgus deformity

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e23a78d0acb9ff97f1070987705f7855
https://doi.org/10.17816/ptors6279-85