المؤلفون: Selcen Bozkurt, Ayse Merve Usta, Nafiye Urganci, Nida Gulderen Kalay, Gulsen Kose, Evrim Ozmen

المصدر: BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)

مصطلحات موضوعية: Coats plus syndrome, Gastrointestinal bleeding, Portal hypertension, Octreotide, Leukocoria, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/ded3f46f8c144650a60677018b66dfb9

المؤلفون: Kushal U. Agrawal, Nicholas E. Kalafatis, Carol L. Shields

المصدر: American Journal of Ophthalmology Case Reports, Vol 28, Iss , Pp 101713- (2022)

مصطلحات موضوعية: Telomere biology disorder, Coats plus syndrome, Dyskeratosis congenita, CTC1 gene, Pigment epithelial detachment, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2451993622004595; https://doaj.org/toc/2451-9936

URL الوصول: https://doaj.org/article/b57395648640413c80d9e695525fa42c

المؤلفون: Noufissa Oudrhiri, Radhia M’kacher, Diana Chaker, Bruno Colicchio, Claire Borie, Eric Jeandidier, Alain Dieterlen, Frank Griscelli, Annelise Bennaceur-Griscelli, Ali G. Turhan

المصدر: Genes; Volume 13; Issue 8; Pages: 1395

مصطلحات موضوعية: Coats plus syndrome, telomere, telomerase, alternative lengthening of telomere (ALT), CTC1, chromosomal instability

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes13081395

الاتاحة: https://doi.org/10.3390/genes13081395

المؤلفون: Agrawal, Kushal U., Kalafatis, Nicholas E., Shields, Carol L.

المصدر: Wills Eye Hospital Papers

مصطلحات موضوعية: telomere biology disorder, coats plus syndrome, dyskeratosis congenita CTC1 gene, pigment epithelial detachment, Medical Specialties, Medicine and Health Sciences, Ophthalmology

وصف الملف: application/pdf

Relation: https://jdc.jefferson.edu/willsfp/165; https://jdc.jefferson.edu/cgi/viewcontent.cgi?article=1165&context=willsfp

الاتاحة: https://jdc.jefferson.edu/willsfp/165
https://jdc.jefferson.edu/cgi/viewcontent.cgi?article=1165&context=willsfp

المؤلفون: Mirjam van der Burg, Monique Losekoot, Fernanda Pena, Merel W. Boogaard, Verónica Mericq, Sanami Takada, Jan M. Wit, Joel Riquelme, Ingrid Pico-Knijnenburg, Tessa van Dijk, Hermine A. van Duyvenvoorde

المصدر: Hormone Research in Paediatrics, 94(11-12), 448-455. KARGER

مصطلحات موضوعية: Microcephaly, Endocrinology, Diabetes and Metabolism, Leukodystrophy, Biology, Brain calcifications, Compound heterozygosity, medicine.disease, Telomere, Coats plus syndrome, Short stature, Exon, Endocrinology, Telomere Homeostasis, Ovarian failure, Primary Ovarian Failure, Pediatrics, Perinatology and Child Health, Cancer research, medicine, Missense mutation, CTC1 gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::476963f4bd4af23c704bf336588affd4
https://doi.org/10.1159/000520410

المؤلفون: Catherin I. Negron, Nimesh A. Patel, Kenneth C. Fan, Elaine Han, Supalert Prakhunhungsit, Audina M. Berrocal, Nicolas A. Yannuzzi, Willa Thorson, Diana M. Laura

المصدر: Ophthalmic Genetics. 41:363-367

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Telomere-Binding Proteins, 030105 genetics & heredity, Gene mutation, medicine.disease_cause, Compound heterozygosity, Dyskeratosis Congenita, 03 medical and health sciences, 0302 clinical medicine, Retinal Diseases, Leukoencephalopathies, Seizures, medicine, Humans, Central Nervous System Cysts, Gene, NAIL DYSTROPHY, Genetics (clinical), Mutation, Gastrointestinal tract, Brain Neoplasms, business.industry, Calcinosis, Infant, COATS PLUS SYNDROME, Prognosis, medicine.disease, Ophthalmology, Muscle Spasticity, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, Ataxia, Female, business, Dyskeratosis congenita

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78957e67a05ce35ac5db51d7ca2613c0
https://doi.org/10.1080/13816810.2020.1772315

المؤلفون: Caroline Kannengiesser, Raphael Borie, Typhaine Grenet, Audrey Giocanti-Auregan

المصدر: Journal of Human and Clinical Genetics. 1:1-5

مصطلحات موضوعية: Mutation (genetic algorithm), COATS PLUS SYNDROME, Tert gene, Biology, Molecular biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::57317507265e72359bc641be304b757b
https://doi.org/10.29245/2690-0009/2019/3.1107

المؤلفون: Tingyi Liang, Xiang Zhang, Peiquan Zhao, Yu Xu

المصدر: Ophthalmic genetics. 42(1)

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Telomere-Binding Proteins, 030105 genetics & heredity, Gene mutation, 03 medical and health sciences, 0302 clinical medicine, Retinal Diseases, Leukoencephalopathies, Seizures, Medicine, Humans, Central Nervous System Cysts, Genetics (clinical), business.industry, Brain Neoplasms, COATS PLUS SYNDROME, Calcinosis, Infant, Telomere, Ophthalmology, Phenotype, Muscle Spasticity, Child, Preschool, Pediatrics, Perinatology and Child Health, Retinal vasculopathy, Mutation, 030221 ophthalmology & optometry, Ataxia, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee1308f1ef5d74ba3290446864954a04
https://pubmed.ncbi.nlm.nih.gov/33034244

المؤلفون: Netravathi, Manjunath, Kumari, Renu, Kapoor, Saketh, Dakle, Pushkar, Dwivedi, Manish, Roy, Sumitabho, Pandey, Paritosh, Saini, Jitender, Ramakrishna, Anil, Navalli, Devaraddi, Satishchandra, Parthasarathy, Pal, Pramod, Kumar, Arun, Faruq, Mohammed

مصطلحات موضوعية: CTC1, Coats plus syndrome, CRMCC, Whole exome sequencing, Autosomal recessive disease, Dextrocardia, Notch signaling

Relation: http://www.biomedcentral.com/1471-2350/16/5

الاتاحة: http://www.biomedcentral.com/1471-2350/16/5

المؤلفون: Sally S. Ong, Cynthia A. Toth

مصطلحات موضوعية: medicine.medical_specialty, genetic structures, medicine.diagnostic_test, business.industry, Retinal detachment, COATS PLUS SYNDROME, Retinal, medicine.disease, eye diseases, chemistry.chemical_compound, Aneurysm, chemistry, Optical coherence tomography, Ophthalmology, Medicine, sense organs, Coats' disease, Subretinal fluid, business, Retinal exudate

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::263a8b2cb5c4bcb3d4cc06970e28eb21
https://doi.org/10.1016/b978-0-323-60984-5.00031-7

المؤلفون: Adrien Collin, Augustin Lecler

المصدر: JAMA neurology. 76(4)

مصطلحات موضوعية: medicine.medical_treatment, Telomere-Binding Proteins, Retinal Diseases, Leukoencephalopathies, Seizures, medicine, Exudative retinopathy, Humans, Central Nervous System Cysts, Fetal Growth Retardation, Laser Coagulation, medicine.diagnostic_test, business.industry, Brain Neoplasms, Leukodystrophy, Angiography, COATS PLUS SYNDROME, Brain, Calcinosis, Infant, Retinal Vessels, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Muscle Spasticity, Ataxia, Neurology (clinical), business, Nuclear medicine, Laser coagulation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7026b31032f81dccea6258e28c4950c8
https://pubmed.ncbi.nlm.nih.gov/30688973

المؤلفون: David Laszlo Tarnoki, Kinga Karlinger, Eszter Turányi, Anita Kamondi, Anna-Elina Lehesjoki, László Szegedi, Anna Szűcs, Anne Polvi, Andrea Kelemen, Adam Domonkos Tarnoki

المصدر: Journal of Neurology. 261:1911-1916

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Neurology, Cerebral calcification, Telomere-Binding Proteins, Labrune Syndrome, Leukoencephalopathy, Epilepsy, Retinal Diseases, Leukoencephalopathies, Seizures, medicine, Humans, Central Nervous System Cysts, Neuroradiology, Family Health, Brain Neoplasms, business.industry, Calcinosis, COATS PLUS SYNDROME, medicine.disease, Magnetic Resonance Imaging, Ophthalmology, Muscle Spasticity, Mutation, Ataxia, Female, Neurology (clinical), Cerebroretinal microangiopathy with calcifications and cysts, Tomography, X-Ray Computed, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bfecd403b89b37f6b356a6335c63560
https://doi.org/10.1007/s00415-014-7393-9

المؤلفون: Yuping Wang, Aihua Liu, Li Gong, Shuqin Zhan, Hua Lin

المصدر: Journal of the neurological sciences. 382

مصطلحات موضوعية: 0301 basic medicine, China, Telomere-Binding Proteins, Mutation, Missense, Disease, Biology, medicine.disease_cause, 03 medical and health sciences, Young Adult, Asian People, Retinal Diseases, Leukoencephalopathies, Seizures, medicine, Missense mutation, Humans, Family, Chinese family, Central Nervous System Cysts, Gene, Genetics, Mutation, Brain Neoplasms, COATS PLUS SYNDROME, Calcinosis, 030104 developmental biology, Neurology, Muscle Spasticity, Healthy individuals, Ataxia, Female, Neurology (clinical), Differential diagnosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ea211c3373293d41cd6edfddd76c7d7
https://pubmed.ncbi.nlm.nih.gov/29111009

المؤلفون: Arun Kumar, Manish Kumar Dwivedi, Mohammed Faruq, Parthasarathy Satishchandra, Devaraddi Navalli, Renu Kumari, Paritosh Pandey, Saketh Kapoor, S. D. Roy, Anil Ramakrishna, Pushkar Dakle, Manjunath Netravathi, Pramod Kumar Pal, Jitender Saini

المصدر: BMC Medical Genetics

مصطلحات موضوعية: Male, Pathology, Case Report, Dextrocardia, Compound heterozygosity, Leukoencephalopathy, Leukoencephalopathies, Basic Helix-Loop-Helix Transcription Factors, Genetics(clinical), Exome, Central Nervous System Cysts, Child, Notch signaling, Genetics (clinical), Exome sequencing, Genetics, Receptors, Notch, Brain Neoplasms, Homozygote, Calcinosis, Genomics, Telomere, Autosomal recessive disease, Pedigree, Coats plus syndrome, Retinal telangiectasia, Phenotype, Bone marrow suppression, Muscle Spasticity, medicine.symptom, Signal Transduction, medicine.medical_specialty, Ataxia, Telomere-Binding Proteins, Mutation, Missense, India, Biology, Retinal Diseases, Seizures, medicine, Animals, Humans, Base Sequence, Whole exome sequencing, Sequence Analysis, DNA, medicine.disease, CRMCC, CTC1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a343752f8c09bfc2610e2be00d0792d
https://doi.org/10.1186/s12881-015-0151-8

المؤلفون: Sharon A. Savage

المصدر: Nature genetics. 44(3)

مصطلحات موضوعية: Genetics, Extramural, Telomere-Binding Proteins, COATS PLUS SYNDROME, Biology, Telomere, medicine.disease, medicine, Retinal Telangiectasis, Abnormalities, Multiple, Genetic Predisposition to Disease, Revesz syndrome, Dyskeratosis congenita

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5762a717a5c9a1d4f3fd39c6276509a6
https://pubmed.ncbi.nlm.nih.gov/22267198

المؤلفون: Henry G. Brown, Melissa J. Armstrong, Lotfi Hacein-Bey

المصدر: Journal of Computer Assisted Tomography. 33:571-572

مصطلحات موضوعية: Adult, medicine.medical_specialty, Pathology, Diagnosis, Differential, Leukoencephalopathy, White matter, Rare Diseases, medicine, Humans, Radiology, Nuclear Medicine and imaging, Brain Diseases, Muscle Weakness, Cysts, business.industry, Dementia, Vascular, Dysarthria, Disease progression, Rare entity, Brain, Calcinosis, COATS PLUS SYNDROME, medicine.disease, Magnetic Resonance Imaging, Radiography, medicine.anatomical_structure, Disease Progression, Female, Epilepsy, Tonic-Clonic, Cerebral Cyst, Radiology, Vascular pathology, Cerebroretinal microangiopathy with calcifications and cysts, Cognition Disorders, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6decc3dbf3a8f129391b1f0020028bc5
https://doi.org/10.1097/rct.0b013e31818c0957