المؤلفون: Angée, Clémentine, Nedelec, Brigitte, Erjavec, Elisa, Rozet, Jean-Michel, Fares Taie, Lucas

المساهمون: Genetics in Ophthalmology (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)

المصدر: ISSN: 2073-4425 ; Genes ; https://u-paris.hal.science/hal-03239240Test ; Genes, 2021, 12 (5), pp.624. ⟨10.3390/genes12050624⟩.

مصطلحات موضوعية: congenital microcoria, congenital miosis, dilator muscle, glaucoma, myopia, chromosome 13q32.1 structural variants, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33922078; hal-03239240; https://u-paris.hal.science/hal-03239240Test; https://u-paris.hal.science/hal-03239240/documentTest; https://u-paris.hal.science/hal-03239240/file/genes-12-00624-v2.pdfTest; PUBMED: 33922078; PUBMEDCENTRAL: PMC8143514

الإتاحة: https://doi.org/10.3390/genes12050624Test
https://u-paris.hal.science/hal-03239240Test
https://u-paris.hal.science/hal-03239240/documentTest
https://u-paris.hal.science/hal-03239240/file/genes-12-00624-v2.pdfTest

المؤلفون: Clémentine Angée, Brigitte Nedelec, Elisa Erjavec, Jean-Michel Rozet, Lucas Fares Taie

المصدر: Genes; Volume 12; Issue 5; Pages: 624

مصطلحات موضوعية: congenital microcoria, congenital miosis, dilator muscle, glaucoma, myopia, chromosome 13q32.1 structural variants

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12050624Test

الإتاحة: https://doi.org/10.3390/genes12050624Test

المؤلفون: Elisa Erjavec, Brigitte Nedelec, Lucas Fares Taie, Clémentine Angée, Jean-Michel Rozet

المساهمون: Genetics in Ophthalmology (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Paris Diderot, Equipe HAL

المصدر: Genes
Genes, MDPI, 2021, 12 (5), pp.624. ⟨10.3390/genes12050624⟩
Genes, Vol 12, Iss 624, p 624 (2021)

مصطلحات موضوعية: 0301 basic medicine, Intraocular pressure, medicine.medical_specialty, genetic structures, [SDV]Life Sciences [q-bio], Iris, Glaucoma, Review, QH426-470, 03 medical and health sciences, 0302 clinical medicine, congenital miosis, Pupil Disorders, Ophthalmology, Genetics, medicine, Animals, Humans, Hemeralopia, myopia, Congenital miosis, Iris (anatomy), Molecular Biology, chromosome 13q32.1 structural variants, Intraocular Pressure, Genetics (clinical), Chromosomes, Human, Pair 13, business.industry, Autosomal dominant trait, Microcoria, medicine.disease, congenital microcoria, dilator muscle, eye diseases, [SDV] Life Sciences [q-bio], glaucoma, 030104 developmental biology, medicine.anatomical_structure, Dilator, 030221 ophthalmology & optometry, sense organs, business, Glaucoma, Open-Angle

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::576d1dbc95beb1d15ea0f8107fb99517Test
https://doi.org/10.3390/genes12050624Test

المؤلفون: Sabrina Sacconi, Pierfrancesco Ottaviani, Francesco Laschena, Beatrice Riva, Giovanni Antonini, Guy Brochier, Enrico Bertini, Elisa Vizzaccaro, Armando A. Genazzani, Matteo Garibaldi, Clémence Labasse, Norma B. Romero, Fabiana Fattori

المصدر: Clinical Genetics. 91:780-786

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, biology, Myogenesis, Late onset, Asymptomatic, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Endocrinology, Internal medicine, Thrombocytopathy, Genetics, medicine, biology.protein, Missense mutation, Creatine kinase, Congenital miosis, medicine.symptom, Myopathy, 030217 neurology & neurosurgery, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d9c6b46565997a7a5b4efc96aa2e2008Test
https://doi.org/10.1111/cge.12888Test

المؤلفون: National Ataxia Foundation, International WAGR Syndrome Association, 4p- Support Group, ML4 Foundation, Cornelia de Lange Syndrome Foundation, Stickler Involved People, Kawasaki Disease Foundation, Klippel-Feil Syndrome Alliance, Klippel-Feil Syndrome Freedom, Hyperacusis Research Limited, Hypersomnia Foundation, Kabuki Syndrome Network, Kleine-Levin Syndrome Foundation, Leiomyosarcoma Direct Research Foundation, Marinesco-Sjogren Syndrome Support Group - NORD, Mucolipidosis Type IV (ML4) Foundation, People with Narcolepsy 4 People with Narcolepsy (PWN4PWN), Soft Bones Incorporated, American Multiple Endocrine Neoplasia Support, Atypical Hemolytic Uremic Syndrome Foundation, All Things Kabuki, Wiedemann-Steiner Syndrome Foundation, Breast Implant Victim Advocates, PROS Foundation, American Behcet's Disease Association, Alstrom United Kingdom, Athymia, Curing Retinal Blindness Foundation, HSAN1E Society, 1p36 Deletion Support and Awareness, The Alagille Syndrome Alliance, Autoinflammatory Alliance, Beyond Batten Disease Foundation, Bohring-Opitz Syndrome Foundation, INC, Cockayne Syndrome Network (Share and Care), CRMO Foundation, Cure VCP Disease,INC, FOD Support, Cystinosis Research Foundation, Global DARE Foundation, Hypnic Jerk-Sleep Myoclonus Support Group, Jansen's Foundation, KCNMA1 Channelopathy International Advocacy Foundation, Kawasaki Disease Foundation Australia, Life with LEMS Foundation, Lowe Syndrome Association, The Malan Syndrome Foundation, Maple Syrup Urine Disease Family Support Group, International Association for Muscle Glycogen Storage Disease (IamGSD), Myhre Syndrome Foundation, DNM1 Families, Nicolaides Baraitser Syndrome (NCBRS) Worldwide Foundation, The PBCers Organization, Pitt Hopkins Research Foundation, Recurrent Meningitis Association, Recurrent Respiratory Papillomatosis Foundation, Remember the Girls, Smith-Kingsmore Syndrome Foundation, SPG Research Foundation, Team Telomere, Transient Global Amnesia Project, The Charlotte & Gwenyth Gray Foundation, The Cute Syndrome Foundation, The Maddi Foundation, White Sutton Syndrome Foundation, Zmynd11 Gene Disorder, Cauda Equina Foundation, Inc, Tango2 Research Foundation, Noah's Hope - Hope4Bridget Foundation, Project Sebastian, SMC1A Epilepsy Foundation, International Foundation for Gastrointestinal Disorders, Endosalpingiosis Foundation, Inc, International Sacral Agenesis/Caudal Regression Association (ISACRA), Scheuermann's Disease Fund, Batten Disease Support and Research Association, Kennedy's Disease Association, Cure Mito Foundation, Warburg Micro Research Foundation, Cure Mucolipidosis, Riaan Research Initiative, CureARS A NJ Nonprofit Corporation, CACNA1H Alliance, IMBS Alliance, SHINE-Syndrome Foundaion, Non- Ketotic Hyperglycinemia (NKH) Crusaders, Hypertrophic Olivary Degeneration Association (HODA), National Organization for Disorders of the Corpus Callosum (NODCC), Team4Travis, Taylor's Tale Foundation, Lambert Eaton (LEMS) Family Association, BARE Inc, STAG1 Gene Foundation, Coffin Lowry Syndrome Foundation, BLFS Incorporate, Aniridia North America, Cure Blau Syndrome Foundation, ARG1D Foundation, CURE HSPB8 Myopathy, International Society of Mannosidosis and Related Disorders, TBX4Life, Cure DHDDS, MANDKind Foundation, Krishnan Family Foundation, SPATA Foundation

المصدر: Coordination of Rare Diseases at Sanford

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT01793168Test

Other URLs: http://www.sanfordresearch.org/SpecialPrograms/cordsTest/
https://cordsconnect.sanfordresearch.org/BayaPES/sf/screeningForm?id=SFSFLTest#
https://cordsconnect.sanfordresearch.org/BayaPES/pp/participantLoginTest#

المؤلفون: M, Garibaldi, F, Fattori, B, Riva, C, Labasse, G, Brochier, P, Ottaviani, S, Sacconi, E, Vizzaccaro, F, Laschena, N B, Romero, A, Genazzani, E, Bertini, G, Antonini

مصطلحات موضوعية: Male, Heterozygote, ORAI1 Protein, tubular aggregate myopathy, Middle Aged, stormorken syndrome, CRAC channel, Calcium Release Activated Calcium Channels, Pedigree, ORAI1, congenital miosis, muscle MRI, Pupil Disorders, Mutation, Humans, Female, Age of Onset, Myopathies, Structural, Congenital

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5e76ebd04e49a5ce00f1f22868e2db6bTest
http://hdl.handle.net/11573/908607Test

المؤلفون: O Sjaastad, T. A. Fredriksen, J Aasly, Ivar Hørven, H Stormorken, M M Wysocka-Bakowska

المصدر: Acta Ophthalmologica. 70:713-720

مصطلحات موضوعية: Adult, Male, Miosis, Asplenia, genetic structures, Hemorrhage, Sweating, Eye, Reflex, Pupillary, Pupil, Muscular Diseases, Humans, Medicine, Congenital miosis, business.industry, Ichthyosis, Dyslexia, Syndrome, General Medicine, medicine.disease, Ophthalmology, medicine.anatomical_structure, Anesthesia, Forehead, Female, medicine.symptom, business, Pupillometry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7da9adce445f36add121b571fab71b14Test
https://doi.org/10.1111/j.1755-3768.1992.tb04874.xTest

المؤلفون: Thomas Lehmann, Graham B. Wiley, Nortina Shahrizaila, Patrick M. Gaffney, E-Ching Ong, Mohnish Suri, Klaas J. Wierenga, Nicholas Katsanis, Maria Kousi, Leonidas Tsiokas, Vasyl Nesin, David Nicholl

مصطلحات موضوعية: Miosis, medicine.medical_specialty, Patch-Clamp Techniques, ORAI1 Protein, Migraine Disorders, Molecular Sequence Data, Erythrocytes, Abnormal, Biology, medicine.disease_cause, Dyslexia, Internal medicine, medicine, Animals, Humans, Congenital miosis, Calcium Signaling, Stromal Interaction Molecule 1, Myopathy, Child, Zebrafish, Calcium signaling, DNA Primers, Mutation, Multidisciplinary, Base Sequence, ORAI1, Ichthyosis, Membrane Proteins, STIM1, Sequence Analysis, DNA, Biological Sciences, medicine.disease, Neoplasm Proteins, Pedigree, Bleeding diathesis, Endocrinology, Muscle Fatigue, Cancer research, Mutagenesis, Site-Directed, Female, Blood Platelet Disorders, Calcium Channels, medicine.symptom, Spleen, Myopathies, Structural, Congenital

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::202add02af9bdc3858b1d11c1f602a46Test
https://europepmc.org/articles/PMC3964084Test/

المؤلفون: Aki Kawasaki, MD, PhD

المصدر: Walsh and Hoyt's Clinical Neuro-Ophthalmology, 6th Edition

مصطلحات موضوعية: Ocular Motor System, Accommodation, Ocular, Tears, Structural Defects, Airidia, Coloboma of the Iris, Square Pupils, Ellipitic Pupils, Scalloped Pupils, Peninsula Pupils, Ectopic Pupils, Misplaced Pupils, Congenital Miosis, Persistent Pupillary Membrane Remnants, Congenital Mydriasis, Polycoria, Pseudopolycoria, Inflammation, Ischemia, Tumor, Trauma, Acute Angle-Closure Glaucoma, Atrophy, Postoperative Mydriasis, Congenital Pupillary Abnormalities, Foreign Body, Traumatic Pupillary Changes

وصف الملف: application/pdf

العلاقة: Walsh and Hoyt's Clinical Neuro-Ophthalmology Walsh and Hoyt's Clinical Neuro-Ophthalmology; Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.eduTest; wh_ch16_p739_2; https://collections.lib.utah.edu/ark:/87278/s6gt8wpwTest

الإتاحة: https://collections.lib.utah.edu/ark:/87278/s6gt8wpwTest

المؤلفون: F Bremner, David Nicholl, Nortina Shahrizaila, Rose, Adrian J Wills, G Sadalage, Klaas J. Wierenga

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 85:e4.141-e4

مصطلحات موضوعية: Dystonia, Mutation, medicine.medical_specialty, Asplenia, Pathology, Biology, medicine.disease_cause, medicine.disease, Hypoplasia, Psychiatry and Mental health, Endocrinology, Internal medicine, Thrombocytopathy, medicine, Missense mutation, Surgery, Neurology (clinical), Congenital miosis, medicine.symptom, Myopathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b95994c3f2fffa9452182e9cd2132facTest
https://doi.org/10.1136/jnnp-2014-309236.31Test