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Tytuł:
Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).
Autorzy:
He QB; Department of Pediatric Orthopaedics, The Third Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Wu CH; Department of Clinical Laboratory, Hebei Petrochina Central Hospital, Langfang, China.
Sun DL; Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, China.; Hebei Key Laboratory of Maternal and Fetal Medicine; Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang, China.
Yuan JY; Department of Pediatric Orthopaedics, The Third Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Hu HY; Birth Defects Prevention and Control Technology Research Center, Medical Innovation Research Division of Chinese PLA General Hospital, Beijing, China.
Yang K; Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.; Beijing Maternal and Child Health Care Hospital, Capital Medical University, Beijing, China.
Chen WQ; Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, China.; Hebei Key Laboratory of Maternal and Fetal Medicine; Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang, China.
Yan YS; Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.; Beijing Maternal and Child Health Care Hospital, Capital Medical University, Beijing, China.
Yin GY; Department of Clinical Laboratory, Hebei Petrochina Central Hospital, Langfang, China.
Zhang J; Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, China.; Hebei Key Laboratory of Maternal and Fetal Medicine; Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang, China.
Li YZ; Department of Pediatric Orthopaedics, The Third Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2401.
Typ publikacji:
Journal Article
MeSH Terms:
Arthrogryposis*/genetics
Conjunctiva*/abnormalities
Contracture*/genetics
Pterygium*
Humans ; Male ; Family
SCR Disease Name:
Pterygium Of Conjunctiva And Cornea
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review.
Autorzy:
Picker SM; Northumbria Healthcare Trust, North Shields NE29 8NH, UK.
Parker G; Newcastle University Medical School, Newcastle NE2 4HH, UK.
Gissen P; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 1EH, UK.; Genetics and Genomic Medicine Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Aug 31; Vol. 24 (17). Date of Electronic Publication: 2023 Aug 31.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Arthrogryposis*/genetics
Contracture*
Humans ; Syndrome ; Homeostasis ; Collagen/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Characterization of feed efficiency-related key signatures molecular in different cattle breeds.
Autorzy:
Yang C; College of Animal Science, Xichang University, Xichang City, Sichuan Province, China.; Key Laboratory of Ruminant Molecular and Cellular Breeding, School of Agriculture, Ningxia University, Yinchuan City, Ningxia, China.
Huang Z; College of Animal Science, Xichang University, Xichang City, Sichuan Province, China.; Key Laboratory of Ruminant Molecular and Cellular Breeding, School of Agriculture, Ningxia University, Yinchuan City, Ningxia, China.
Pan C; Key Laboratory of Ruminant Molecular and Cellular Breeding, School of Agriculture, Ningxia University, Yinchuan City, Ningxia, China.
Wang S; Key Laboratory of Ruminant Molecular and Cellular Breeding, School of Agriculture, Ningxia University, Yinchuan City, Ningxia, China.
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Źródło:
PloS one [PLoS One] 2023 Sep 27; Vol. 18 (9), pp. e0289939. Date of Electronic Publication: 2023 Sep 27 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Liver*
Arthrogryposis*
Animals ; Cattle/genetics ; Consensus ; Data Interpretation, Statistical ; Eating
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca.
Autorzy:
Cisneros-Barroso E; Internal Medicine Department. Fundación Instituto de Investigación Sanitaria de Las Islas Baleares, Son Llàtzer University Hospital, Crta Manacor Km 4., 07198, Palma, Spain. .; Balearic Research Group in Genetic Cardiopathies, Sudden Death and TTR Amyloidosis. Health Research Institute of the Balearic Islands (IdISBa), Son Llàtzer University Hospital, Palma, Spain. .
Gorram F; Department of Neurology, University Hospital Henri Mondor, 51 Avenue du Maréchal de Lattre de Tasigny, 94000, Créteil, France.; Paris Est-Créteil University, Créteil, France.; Inserm U.955, Institut Mondor de Recherche Biomédicale (IMRB), Créteil, France.
Ribot-Sansó MA; Internal Medicine Department. Fundación Instituto de Investigación Sanitaria de Las Islas Baleares, Son Llàtzer University Hospital, Crta Manacor Km 4., 07198, Palma, Spain.; Balearic Research Group in Genetic Cardiopathies, Sudden Death and TTR Amyloidosis. Health Research Institute of the Balearic Islands (IdISBa), Son Llàtzer University Hospital, Palma, Spain.
Alarcon F; Laboratory MAP5 UMR CNRS 8145, Paris University, Paris, France.
Nuel G; Stochastics and Biology Group, Department of Probability and Statistics (LPSM, UMR CNRS 8001), Sorbonne University, Paris, France.
González-Moreno J; Internal Medicine Department. Fundación Instituto de Investigación Sanitaria de Las Islas Baleares, Son Llàtzer University Hospital, Crta Manacor Km 4., 07198, Palma, Spain.; Balearic Research Group in Genetic Cardiopathies, Sudden Death and TTR Amyloidosis. Health Research Institute of the Balearic Islands (IdISBa), Son Llàtzer University Hospital, Palma, Spain.
Rodríguez A; Internal Medicine Department. Fundación Instituto de Investigación Sanitaria de Las Islas Baleares, Son Llàtzer University Hospital, Crta Manacor Km 4., 07198, Palma, Spain.; Balearic Research Group in Genetic Cardiopathies, Sudden Death and TTR Amyloidosis. Health Research Institute of the Balearic Islands (IdISBa), Son Llàtzer University Hospital, Palma, Spain.
Hernandez-Rodriguez J; Genomics of Health Research Group, Health Research Institute of the Balearic Islands (IdISBa), 07120, Palma, Spain.
Amengual-Cladera E; Genomics of Health Research Group, Health Research Institute of the Balearic Islands (IdISBa), 07120, Palma, Spain.
Martínez-López I; Genomics of Health Research Group, Health Research Institute of the Balearic Islands (IdISBa), 07120, Palma, Spain.; Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitario Son Espases, 07120, Palma, Spain.
Ripoll-Vera T; Balearic Research Group in Genetic Cardiopathies, Sudden Death and TTR Amyloidosis. Health Research Institute of the Balearic Islands (IdISBa), Son Llàtzer University Hospital, Palma, Spain.; Cardiology Department, Son Llàtzer University Hospital, Palma, Spain.
Losada-López I; Internal Medicine Department. Fundación Instituto de Investigación Sanitaria de Las Islas Baleares, Son Llàtzer University Hospital, Crta Manacor Km 4., 07198, Palma, Spain.; Balearic Research Group in Genetic Cardiopathies, Sudden Death and TTR Amyloidosis. Health Research Institute of the Balearic Islands (IdISBa), Son Llàtzer University Hospital, Palma, Spain.
Heine-Suñer D; Genomics of Health Research Group, Health Research Institute of the Balearic Islands (IdISBa), 07120, Palma, Spain.; Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitario Son Espases, 07120, Palma, Spain.
Plante-Bordeneuve V; Department of Neurology, University Hospital Henri Mondor, 51 Avenue du Maréchal de Lattre de Tasigny, 94000, Créteil, France. .; Paris Est-Créteil University, Créteil, France. .; Inserm U.955, Institut Mondor de Recherche Biomédicale (IMRB), Créteil, France. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Aug 31; Vol. 18 (1), pp. 255. Date of Electronic Publication: 2023 Aug 31.
Typ publikacji:
Journal Article
MeSH Terms:
Amyloid Neuropathies, Familial*/genetics
Arthrogryposis*
Female ; Humans ; Male ; Heterozygote
SCR Disease Name:
Amyloidosis, Hereditary, Transthyretin-Related
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review.
Autorzy:
Wang Z; Department of Nephrology, Qilu Hospital, Shandong University, Jinan, China.; Department of Nephrology, Jining NO.1 People's Hospital, Jining, China.
Sun Z; Department of Nephrology, Heze Municipal Hospital, Heze, China.
Diao Y; Department of Nephrology, Qilu Hospital, Shandong University, Jinan, China.
Wang Z; Department of Nephrology, Qilu Hospital, Shandong University, Jinan, China.
Yang X; Department of Nephrology, Qilu Hospital, Shandong University, Jinan, China.
Jiang B; Department of Nephrology, Qilu Hospital, Shandong University, Jinan, China.
Wu Y; Department of Nephrology, Jining NO.1 People's Hospital, Jining, China.
Liu G; Department of Nephrology, Qilu Hospital, Shandong University, Jinan, China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Aug 29; Vol. 18 (1), pp. 250. Date of Electronic Publication: 2023 Aug 29.
Typ publikacji:
Review; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
East Asian People*
Arthrogryposis*
Humans ; Asian People ; Mutation/genetics
SCR Disease Name:
Townes-Brocks syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Local Control Model of a Human Ventricular Myocyte: An Exploration of Frequency-Dependent Changes and Calcium Sparks.
Autorzy:
Alvarez JAE; School of Systems Biology, George Mason University, Fairfax, VA 22030, USA.
Jafri MS; School of Systems Biology, George Mason University, Fairfax, VA 22030, USA.; Center for Biomedical Engineering and Technology, University of Maryland School of Medicine, Baltimore, MD 20201, USA.
Ullah A; School of Systems Biology, George Mason University, Fairfax, VA 22030, USA.
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Źródło:
Biomolecules [Biomolecules] 2023 Aug 17; Vol. 13 (8). Date of Electronic Publication: 2023 Aug 17.
Typ publikacji:
Journal Article
MeSH Terms:
Calcium Signaling*
Arthrogryposis*
Humans ; Myocytes, Cardiac ; Action Potentials ; Heart Ventricles
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetic Mechanisms of Migraine: Insights from Monogenic Migraine Mutations.
Autorzy:
Gosalia H; Headache Group, The Wolfson Sensory, Pain and Rehabilitation Centre, NIHR King's Clinical Research Facility, & SLaM Biomedical Research Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 9PJ, UK.
Karsan N; Headache Group, The Wolfson Sensory, Pain and Rehabilitation Centre, NIHR King's Clinical Research Facility, & SLaM Biomedical Research Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 9PJ, UK.
Goadsby PJ; Headache Group, The Wolfson Sensory, Pain and Rehabilitation Centre, NIHR King's Clinical Research Facility, & SLaM Biomedical Research Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 9PJ, UK.; Department of Neurology, University of California, Los Angeles, CA 90095, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Aug 11; Vol. 24 (16). Date of Electronic Publication: 2023 Aug 11.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Migraine Disorders*/genetics
Arthrogryposis*
Cerebral Arterial Diseases*
Humans ; Genome-Wide Association Study ; Mutation ; Blindness
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Nicotinic Acetylcholine Receptor Dysfunction in Addiction and in Some Neurodegenerative and Neuropsychiatric Diseases.
Autorzy:
Vallés AS; Bahía Blanca Institute of Biochemical Research (UNS-CONICET), Bahía Blanca 8000, Argentina.
Barrantes FJ; Biomedical Research Institute (BIOMED), Faculty of Medical Sciences, Pontifical Catholic University of Argentina-National Scientific and Technical Research Council, Av. Alicia Moreau de Justo 1600, Buenos Aires C1107AFF, Argentina.
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Źródło:
Cells [Cells] 2023 Aug 11; Vol. 12 (16). Date of Electronic Publication: 2023 Aug 11.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Alzheimer Disease*
Arthrogryposis*
Receptors, Nicotinic*/genetics
Humans ; Cell Membrane ; Brain
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.
Autorzy:
Ahangari N; Innovative Medical Research Center, Faculty of Medicine, Mashhad Medical Science, Islamic Azad University, Mashhad, Iran.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Gholampour-Faroji N; Biotechnology Department, Iranian Research Organization for Science and Technology (IROST), Tehran, Iran.
Doosti M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Ghayour Mobarhan M; Metabolic Syndrome Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Shahrokhzadeh S; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Karimiani EG; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London, UK.; Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Hasani-Sabzevar B; Advanced computational center, Khayyam Innovation Ecosystem, Mashhad, Iran.
Torbati PN; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Haddad-Mashadrizeh A; Industrial Biotechnology Research Group, Institute of Biotechnology, Ferdowsi University of Mashhad, Mashhad, Iran.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Jun; Vol. 11 (6), pp. e2153. Date of Electronic Publication: 2023 Feb 16.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Molecular Dynamics Simulation*
Arthrogryposis*/genetics
Male ; Humans ; Phenotype ; Consanguinity ; Mutation ; Metalloendopeptidases/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The terminal period findings of late-diagnosed fibrodysplasia ossificans progressiva.
Autorzy:
Doğan E; Department of Radiology, Muğla Sıtkı Koçman University, Muğla, Turkey.
Aydoğmuş H; Department of Physical Medicine and Rehabilitation, Muğla Sıtkı Koçman University Education and Research Hospital, Muğla, Turkey.
Elibol C; Department of Radiology, Muğla Sıtkı Koçman University Education and Research Hospital, Muğla, Turkey.
Aydoğmuş S; Department of Radiology, Muğla Sıtkı Koçman University Education and Research Hospital, Muğla, Turkey.
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Źródło:
German medical science : GMS e-journal [Ger Med Sci] 2023 Jul 11; Vol. 21, pp. Doc12. Date of Electronic Publication: 2023 Jul 11 (Print Publication: 2023).
Typ publikacji:
Case Reports
MeSH Terms:
Myositis Ossificans*/diagnostic imaging
Arthrogryposis*
Bunion*
Humans ; Female ; Young Adult ; Adult ; Clavicle ; Clonal Hematopoiesis
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Long term ophthalmic complications of distal arthrogryposis type 5D.
Autorzy:
Cohen D; Department of Ophthalmology, Galilee Medical Center, Nahariya, Israel.
Sloma R; Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
Pizem H; Department of Ophthalmology, Rambam Health Care Campus, Haifa, Israel.
Fedida A; Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
Kalfon L; Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
Ovadia R; Department of Ophthalmology, Galilee Medical Center, Nahariya, Israel.
Segal Z; Department of Ophthalmology, Galilee Medical Center, Nahariya, Israel.
Kassif Y; Department of Ophthalmology, Galilee Medical Center, Nahariya, Israel.
Falik Zaccai T; Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel.; The Azrieli Faculty of Medicine, Bar Ilan, Safed, Israel.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2023 Feb; Vol. 44 (1), pp. 28-34. Date of Electronic Publication: 2022 Dec 02.
Typ publikacji:
Journal Article
MeSH Terms:
Arthrogryposis*/diagnosis
Arthrogryposis*/genetics
Humans ; Adult ; Middle Aged ; Homozygote ; Phenotype ; Mutation ; Consanguinity ; Sequence Deletion ; Metalloendopeptidases/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Monomelic Multifocal Neuropathy: An Unrecognized Electrophysiological Feature of Hereditary Neuropathy with Liability to Pressure Palsies in Childhood.
Autorzy:
Lee JJ; Department of Neurology, Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.
Lee JS; Department of Neurology, Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.
Seok HY; Department of Neurology, Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.
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Źródło:
Neurology India [Neurol India] 2023 Mar-Apr; Vol. 71 (2), pp. 329-330.
Typ publikacji:
Case Reports
MeSH Terms:
Hereditary Sensory and Motor Neuropathy*/diagnosis
Hereditary Sensory and Motor Neuropathy*/genetics
Arthrogryposis*/diagnosis
Adult ; Child ; Humans ; Paralysis/diagnosis ; Paralysis/etiology ; Diagnosis, Differential
SCR Disease Name:
Tomaculous neuropathy
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Excessive mechanotransduction in sensory neurons causes joint contractures.
Autorzy:
Ma S; Howard Hughes Medical Institute, Department of Neuroscience, Dorris Neuroscience Center, Scripps Research, La Jolla, CA 92037, USA.
Dubin AE; Howard Hughes Medical Institute, Department of Neuroscience, Dorris Neuroscience Center, Scripps Research, La Jolla, CA 92037, USA.
Romero LO; Department of Physiology, College of Medicine, University of Tennessee Health Science Center, Memphis, TN, USA.; Integrated Biomedical Sciences Graduate Program, College of Graduate Health Sciences, University of Tennessee Health Science Center, Memphis, TN, USA.
Loud M; Howard Hughes Medical Institute, Department of Neuroscience, Dorris Neuroscience Center, Scripps Research, La Jolla, CA 92037, USA.
Salazar A; Howard Hughes Medical Institute, Department of Neuroscience, Dorris Neuroscience Center, Scripps Research, La Jolla, CA 92037, USA.
Chu S; Department of Biological Sciences, San Jose State University, San Jose, CA, USA.
Klier N; Department of Biological Sciences, San Jose State University, San Jose, CA, USA.
Masri S; Department of Biological Sciences, San Jose State University, San Jose, CA, USA.
Zhang Y; Howard Hughes Medical Institute, Department of Neuroscience, Dorris Neuroscience Center, Scripps Research, La Jolla, CA 92037, USA.
Wang Y; Howard Hughes Medical Institute, Department of Neuroscience, Dorris Neuroscience Center, Scripps Research, La Jolla, CA 92037, USA.
Chesler AT; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; National Center for Complementary and Integrative Health, National Institutes of Health, Bethesda, MD, USA.
Wilkinson KA; Department of Biological Sciences, San Jose State University, San Jose, CA, USA.
Vásquez V; Department of Physiology, College of Medicine, University of Tennessee Health Science Center, Memphis, TN, USA.
Marshall KL; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA.
Patapoutian A; Howard Hughes Medical Institute, Department of Neuroscience, Dorris Neuroscience Center, Scripps Research, La Jolla, CA 92037, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2023 Jan 13; Vol. 379 (6628), pp. 201-206. Date of Electronic Publication: 2023 Jan 12.
Typ publikacji:
Journal Article
MeSH Terms:
Arthrogryposis*/genetics
Arthrogryposis*/physiopathology
Contracture*/genetics
Contracture*/physiopathology
Mechanotransduction, Cellular*/genetics
Sensory Receptor Cells*/physiology
Ion Channels*/genetics
Animals ; Mice ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mechanosensation and joint deformities.
Autorzy:
Müller U; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University, Baltimore, MD, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2023 Jan 13; Vol. 379 (6628), pp. 137-138. Date of Electronic Publication: 2023 Jan 12.
Typ publikacji:
Journal Article
MeSH Terms:
Arthrogryposis*/genetics
Arthrogryposis*/physiopathology
Mechanotransduction, Cellular*/genetics
Sensory Receptor Cells*/physiology
Ion Channels*/genetics
Humans ; Animals ; Mice ; Disease Models, Animal
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family.
Autorzy:
Li Y; Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China.
Nong T; Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China.
Li Y; Department of Pediatric Orthopedics, Guangzhou Women and Children's Medical Center, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China.
Li X; Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China.
Li Z; Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China.
Lv H; Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China.
Xu H; Department of Pediatric Orthopedics, Guangzhou Women and Children's Medical Center, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China.
Li J; Department of Pediatric Orthopedics, Guangzhou Women and Children's Medical Center, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China.
Zhu M; Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Dec; Vol. 10 (12), pp. e2042. Date of Electronic Publication: 2022 Sep 07.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Arthrogryposis*/genetics
Troponin I*/genetics
Adult ; Humans ; East Asian People/genetics ; Pedigree
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders.
Autorzy:
Banushi B; Faculty of Medicine, University of Queensland, Diamantina Institute, Brisbane, QLD 4102, Australia.
Simpson F; Faculty of Medicine, University of Queensland, Diamantina Institute, Brisbane, QLD 4102, Australia.
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Źródło:
Cells [Cells] 2022 Nov 21; Vol. 11 (22). Date of Electronic Publication: 2022 Nov 21.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Arthrogryposis*
Cholestasis*/metabolism
Kidney Diseases*/metabolism
Humans ; Lysosomes/metabolism ; Melanosomes/metabolism ; Rare Diseases/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Arthrogryposis multiplex congenita in a child with congenital fractures: a case report.
Autorzy:
Dayasiri K; Department of Paediatrics, Faculty of Medicine, University of Kelaniya, Colombo, Sri Lanka. .
Jayaweera H; Department of Paediatrics, University of Peradeniya, Peradeniya, Sri Lanka.
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Źródło:
Journal of medical case reports [J Med Case Rep] 2022 Oct 19; Vol. 16 (1), pp. 376. Date of Electronic Publication: 2022 Oct 19.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Arthrogryposis*/complications
Arthrogryposis*/diagnosis
Arthrogryposis*/genetics
Osteogenesis Imperfecta*/complications
Osteogenesis Imperfecta*/diagnosis
Contracture*
Child ; Infant, Newborn ; Male ; Humans ; Female ; Pregnancy ; Infant ; Bone and Bones ; Family
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
An Unusual Combination of Arthrogryposis, Gastroschisis, Cecal Volvulus, and Malignant Hyperthermia in a Young Woman: A Case Report.
Autorzy:
Yeh J; Department of Translational Medicine, Herbert Wertheim College of Medicine at Florida International University, Miami, FL, USA.
Al Ashi A; Department of Translational Medicine, Herbert Wertheim College of Medicine at Florida International University, Miami, FL, USA.
Hernandez J; Division of General Surgery, Memorial Healthcare System, Pembroke Pines, FL, USA.
Seaver C; Department of Translational Medicine, Herbert Wertheim College of Medicine at Florida International University, Miami, FL, USA.; Division of General Surgery, Memorial Healthcare System, Pembroke Pines, FL, USA.
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Źródło:
The American journal of case reports [Am J Case Rep] 2023 Jan 13; Vol. 24, pp. e938031. Date of Electronic Publication: 2023 Jan 13.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Intestinal Volvulus*/complications
Cecal Diseases*/etiology
Malignant Hyperthermia*/complications
Gastroschisis*/complications
Arthrogryposis*/complications
Vascular Diseases*
Female ; Humans ; Child ; Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Open Reduction at 15 Months of Left Hip Dislocation in a Male Infant Diagnosed with Arthrogryposis.
Autorzy:
AlShayhan FA; Department of Orthopedic, King Saud University, Riyadh, Saudi Arabia.
Alsiddiky AM; Department of Orthopedics, King Saud University, Riyadh, Saudi Arabia.
Aljohani M; Department of Orthopedics, King Salman Medical City, Medina, Saudi Arabia.
Alomair A; Department of Orthopedics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Alghnimei N; Department of Orthopedic, King Salman Armed Forces Hospital, Tabuk, Saudi Arabia.
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Źródło:
The American journal of case reports [Am J Case Rep] 2022 Oct 04; Vol. 23, pp. e936627. Date of Electronic Publication: 2022 Oct 04.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Arthrogryposis*/complications
Arthrogryposis*/diagnosis
Arthrogryposis*/surgery
Hip Dislocation*/complications
Hip Dislocation*/diagnostic imaging
Hip Dislocation*/surgery
Hip Dislocation, Congenital*/diagnostic imaging
Hip Dislocation, Congenital*/surgery
Fibrosis ; Humans ; Infant ; Male ; Osteotomy ; Treatment Outcome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
First report of SYNE1 arthrogryposis multiplex congenita from Saudi Arabia with a novel mutation: a case report.
Autorzy:
Kamal NM; Pediatrics and Pediatric Hepatology, Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt. .
Alzeky AM; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia.
Omair MR; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia.
Attar RA; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia.
Alotaibi AM; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia.
Safar A; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia.
Alosaimi NS; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia.
Abosabie SAS; Faculty of Medicine, Charité Universitätsmedizin Berlin, Berlin, Germany.
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Źródło:
Italian journal of pediatrics [Ital J Pediatr] 2022 Jun 23; Vol. 48 (1), pp. 107. Date of Electronic Publication: 2022 Jun 23.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Arthrogryposis*/diagnosis
Arthrogryposis*/genetics
Clubfoot*
Cytoskeletal Proteins/genetics ; Female ; Humans ; Infant, Newborn ; Muscle Hypotonia ; Mutation ; Nerve Tissue Proteins/genetics ; Nuclear Envelope/pathology ; Pedigree ; Pregnancy ; Saudi Arabia
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 2625

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