المؤلفون: Andrew Waack, BS, Jordan Norris, BS, Kathryn Becker, PhD, Alastair Hoyt, MD, Jason Schroeder, MD

المصدر: Radiology Case Reports, Vol 18, Iss 2, Pp 584-590 (2023)

مصطلحات موضوعية: Leukoencephalopathy, Cerebral calcifications, Cerebral cysts, Microangiopathy, Ribosomopathy, White matter, Medical physics. Medical radiology. Nuclear medicine, R895-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S193004332201010X; https://doaj.org/toc/1930-0433

URL الوصول: https://doaj.org/article/3d6473e6071d47b8ae07bbcef6db0fa8

المؤلفون: Anagha R. Joshi, Kiran Kulkarni, Ankita U. Shah

المصدر: Indian Journal of Radiology and Imaging, Vol 31, Iss 03, Pp 772-775 (2021)

مصطلحات موضوعية: labrune syndrome, leukoencephalopathy, cerebral calcifications, cysts, Medical physics. Medical radiology. Nuclear medicine, R895-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0971-3026; https://doaj.org/toc/1998-3808

URL الوصول: https://doaj.org/article/8532e86d0a0041849157e4e4778ea696

المؤلفون: S. W. De Silva, S. D. N. De Silva, C. E. De Silva

المصدر: BMC Endocrine Disorders, Vol 19, Iss 1, Pp 1-6 (2019)

مصطلحات موضوعية: Cerebral calcifications, Pseudohypoparathyroidism, Vitamin D deficiency, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1472-6823

URL الوصول: https://doaj.org/article/3bbac26f98094d6d943ff9457e707a2a

المؤلفون: Filipa Leal, Luís Nogueira, Teresa Martins Mendes, Ana Silva Rocha, Dinis Sarmento, Francisco Pombo, Bárbara Silva

المصدر: European Journal of Case Reports in Internal Medicine (2021)

مصطلحات موضوعية: hypoparathyroidism, cerebral calcifications, brain calcinosis syndrome, Medicine

وصف الملف: electronic resource

Relation: https://www.ejcrim.com/index.php/EJCRIM/article/view/2489; https://doaj.org/toc/2284-2594

URL الوصول: https://doaj.org/article/45273516be1d49d0acfe5c6ec6d81c4a

المؤلفون: Fourneau, Hadrien, Gauchet, Barbara, Deprez, Fabrice

المساهمون: UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service de radiologie - résonance magnétique

المصدر: Annals of Case Reports & Reviews, Vol. 01 (2021)

مصطلحات موضوعية: Fahr disease, cerebral calcifications

Relation: boreal:246465; http://hdl.handle.net/2078.1/246465

الاتاحة: http://hdl.handle.net/2078.1/246465
https://doi.org/10.39127/2574-5747/ACRR:1000192

المؤلفون: Mehtap Evran, Gamze Akkus, Murat Sert, Tamer Tetiker

المصدر: Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 40, Iss 4, Pp 836-840 (2015)

مصطلحات موضوعية: Fahrs disease, cerebral calcifications, hypoparathyroidism, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.scopemed.org/fulltextpdf.php?mno=187133; https://doaj.org/toc/0250-5150

URL الوصول: https://doaj.org/article/ac86c578a158468786e9b20b463b038f

المؤلفون: Mehtap EVRAN, Gamze AKKUŞ, Murat SERT, Tamer TETİKER

المصدر: Cukurova Medical Journal, Vol 40, Iss 4, Pp 836-840 (2015)

مصطلحات موضوعية: fahr hastalığı, serebral kalsifikasyon, hipoparatiroidizm, fahr's disease, cerebral calcifications, hypoparathyroidism, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://dergipark.org.tr/tr/pub/cumj/issue/4206/55527?publisher=cu; https://doaj.org/toc/2602-3040

URL الوصول: https://doaj.org/article/b73b4d6d8bc84d4b91d9b7650e659d6b

المؤلفون: Abdelrahim A. Sadek, Sahr N. Abdel Samad, Mohammed A. Bakheet, Ismail A.A. Hassan, Wafaa M. Abd El-Mageed, Ahmed M. Emam

المصدر: Egyptian Journal of Medical Human Genetics, Vol 16, Iss 2, Pp 149-157 (2015)

مصطلحات موضوعية: Neurocutaneous disorders, Tuberous sclerosis, Seizures, Cerebral calcifications, Infantile spasms, Autism, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1110863015000105; https://doaj.org/toc/1110-8630

URL الوصول: https://doaj.org/article/ebb36b1d6dd84cb28b3c1ca340cad328

المؤلفون: Ankita Shah, Anagha Joshi, Kiran Kulkarni

المصدر: The Indian Journal of Radiology & Imaging
Indian Journal of Radiology and Imaging, Vol 31, Iss 03, Pp 772-775 (2021)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, leukoencephalopathy, Cerebral calcification, business.industry, Cerebral white matter, R895-920, Case Report, cysts, medicine.disease, Labrune Syndrome, Hyperintensity, White matter, Leukoencephalopathy, Medical physics. Medical radiology. Nuclear medicine, cerebral calcifications, medicine.anatomical_structure, Gliosis, Basal ganglia, medicine, Radiology, Nuclear Medicine and imaging, Labrune syndrome, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88c5f056c433a3406c73646b9ce0671e
http://europepmc.org/articles/PMC8590554

المؤلفون: J. G. Leviashvili, N. D. Savenkova, V. I. Guzeva, I. V. Anichkova, E. N. Suspitsin, Ж. Г. Левиашвили, Н. Д. Савенкова, В. И. Гузева, И. В. Аничкова, Е. Н. Суспицин

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 63, № 1 (2018); 90-95 ; Российский вестник перинатологии и педиатрии; Том 63, № 1 (2018); 90-95 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2018-63-1

مصطلحات موضوعية: лечение, Gitelman syndrome, hypomagnesemia, hypokalemia, alkalosis, cerebral calcifications, gene SLC12А3, diagnostics, treatment, синдром Гительмана, гипомагниемия, гипокалиемия, алкалоз, церебральные кальцификаты, ген SLC12А3, диагностика

وصف الملف: application/pdf

Relation: https://www.ped-perinatology.ru/jour/article/view/625/600; OMIM: An online catalog of human genes and genetic disorders [Electronic resource]. Electronic data. Baltimore: Johns Hopkins Univ., 2015; Mode of access: http://www.omim.org/; Савенкова Н.Д., Папаян А.В., Левиашвили Ж.Г. Тубулопатии в практике педиатра. Руководство для врачей. Под ред. Н.Д. Савенковой, А.В. Папаяна. СПб: Левша 2006; 144.; Юрьева Э.А., Вельтищев Ю.Е., Игнатова М.С. Тубулопатии. В кн.: Детская нефрология. Руководство для врачей. Под ред. М. С. Игнатовой. М.: Мед. информ. агентство, 2011; 358–389.; Genetic diseases of the kidney. R.P. Lifton, S. Somlo, G.H. Giebisch (eds). Amsterdam, London: Elsevier: Acad. Press, 2009; 848.; Emmett M.,Sterns R.H, Forman J.P. Bartter and Gitelman syndromes [Electronic resource]. UpToDate. Electronic data, 2015; mode of access: http://www.uptodate.com/contents/ bartter-and-gitelman syndromes; Gil-Peña H., Mejia N., Alvarez-Garcia O., Loredo V., Santos F. Longitudinal growth in chronic hypokalemic disorders. Pediatr Nephrol 2010; 25(4): 733–737. DOI: org/10.1007/ s00467-009-1330-7; Левиашвили Ж.Г., Савенкова Н.Д., Левичева О.В., Снежкова Е.А. Катамнестическое наблюдение детей с синдромом Bartter и Gitelman. Нефрология 2013; 17(3): 80–87.; Devuyst O., Belge H., Konrad M., Jeunemaitre X., Zennaro M.C. Renal tubular disorders of electrolyte regulation in children. Gitelman syndrome. In: Pediatric Nephrology. E.D. Avner (ed.). Springer-Verlag, Berlin, Heidelberg, 2016; 1215–1221. DOI:10.1007/978-3-662-43596-0_34 1201; Das S.K., Ghosh A., Banerjee N., Khaskil S. Gitelman’s syndrome presenting with hypocalcemia, basal ganglia calcification and periodic paralysis. Singapore Med J 2012; 53: e222–e224.; Peters M., Jeck N., Reinalter S., Leonhardt A., Tönshoff B., Klaus G. et al. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Amer J Med 2002; 112(3): 183–190.; Viering D.H.H.M., de Baaij J.H.F., Walsh S.B., Kleta R., Bockenhauer D. Genetic causes of hypomagnesemia, a clinical overview. Pediatr Nephrol 2017; 32(7): 1123–1135. DOI:10.1007/s00467-016-3416-3; Beltagi A.El., Norbash A., Vattoth S.Novel brain MRI abnormalities in Gitelman syndrome. Neuroradiol J 2015; 28(5): 523-528.DOI:10.1177/1971400915609340; Koulouridis E., Koulouridis I. Molecular pathophysiology of Bartter’s and Gitelman’s syndromes. World J Pediatr 2015; 11(2): 113–125. DOI:10.1007/s12519-015-0016-4; Sardani Y., Qin K., Haas M., Aronson A.J., Rosenfield R.L. Bartter syndrome complicated by immune complex nephropathy: case report and literature review. Pediatr Nephrol 2003; 18(9): 913–918.; Seyberth H.W., Schlingmann K.P. Bartter and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. Pediatr Nephrol 2011; 26(10): 1789–1802. DOI:10.1007/s00467-011-1871-4; Simon D. B., Nelson-Williams C., Bia M. J., Ellison D., Karet F.E., Molina A.M. et al. Gitelman’s variant of Bartter’s syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nature Genet 1996; 12(1): 24–30. DOI:10.1038/ng0196-24; Monnens L., Bindels R., Grünfeld J.P. Gitelman syndrome comes of age. Nephrol Dial Transplant1998; 13(7): 1617–1619.; Devarajan, P., Langman C.B. Pediatric Bartter syndrome [Electronic resource]. Medscape 2011; mode of access: http://www.emedicine.com/ped/TOPIC210.HTM; Riveira-Munoz E., Chang Q., Godefroid N., Hoenderop J.G., Bindels R.J., Dahan K. et al. Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. J Amer Soc Nephrol 2007; 18(4): 1271–1283. DOI:10.1681/ASN.2006101095; Tsutsui H., Hamano T., Kawaura Y.,Inaba S., Miyamori I.,YasujimaM, et al. Case of Gitelman syndrome associated with idiopathic intracranial hypertension. Intern Med 2011; 50: 1493–1496. DOI:10.2169/internalmedicine.50.5305.; Quinlan C.S., Walsh J.C., Moran A.M., Moran C., O’Rourke S.K. Gitelman syndrome. A rare presentation mimicking cauda equina syndrome. J Bone Joint Surg Br 2011; 93: 266–268. DOI:10.1302/0301-620X.93B2.25700; Gandi K., Prasad D., Malhotra V., Agrawal D. Gitelman’s syndrome presenting with hypocalcemic tetany and hypokalemic periodic paralysis, case report. India Saudi J Kidney Dis Transpl 2016; 27(5): 1026–1028.; Gierth M., Banas B., Burger M. Metabolic alkalosis. In: Urology at a glance.A.S. Merseburger, M.A. Kuczyk, J.W. Moul (eds). Heidelberg, New York, Dordrecht, London: Springer, 2014; 77–80.; Vargas-Poussou R., Dahan K., Kahila D., Venisse A., Riveira-Munoz E., Debaix H. et al. Spectrum of Mutations in Gitel-man Syndrome. J Am SocNephrol 2011; 22(4): 693–703. DOI:10.1681/ASN.2010090907; Игнатова М.С., Длин В.В. Роль генетики в развитии детской нефрологии. Рос вестн перинатол и педиатр 2015; 60(3): 6–9.; Николаева Е.А. Значение достижений медицинской генетики для решения проблемы нарушения развития у детей. Рос вестн перинатол и педиатр 2016; 61(2): 5–11. DOI:10.21508/1027-4065-2016-61-2-5-11; https://www.ped-perinatology.ru/jour/article/view/625

الاتاحة: https://www.ped-perinatology.ru/jour/article/view/625
https://doi.org/10.21508/1027-4065-2018-63-1-90-95

المؤلفون: Gabriele Palu, Samia T Moraes, Gabriela Romaniello, Luis O Zatorre, Luiza K Seixas, Rafael Miyazima, Gustavo Lenci Marques

المصدر: Cureus

مصطلحات موضوعية: fahr’s disease or fahr’s syndrome, cerebral calcifications, Neurology, General Engineering, Endocrinology/Diabetes/Metabolism, Internal Medicine, hypoparathyroidism, secondary hypocalcemia, new-onset seizure

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ed5d1103ac10a602c3bc6592fb49556
http://europepmc.org/articles/PMC8752340

المؤلفون: Dusak, Abdurrahim

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Radyoloji Anabilim Dalı., orcid:0000-0002-3425-0740, Seferoğlu, Meral, Hakyemez, Bahattin, Bora, İbrahim, Parlak, Müfit, AAI-2318-2021, AAG-8521-2021, 25636262100, 6602527239, 6602914249, 7003589220

مصطلحات موضوعية: Neurosciences & neurology, Psychiatry, Cerebral calcifications, Leukoencephalopathy, Ataxia, Brain neoplasms, Calcinosis, Central nervous system cysts, Epilepsy, complex partial, Humans, Leukoencephalopathies, Male, Muscle spasticity, Retinal diseases, Seizures, Young adult, Clinical neurology, Neurosciences, Dyskeratosis Congenita, Hoyeraal Hreidarsson Syndrome, Telomerase RNA, Adult, Basal ganglion, Brain calcification, Brain cyst, Case report, Complex partial seizure, Computer assisted tomography, Electroencephalography

وصف الملف: application/pdf

Relation: Makale - Uluslararası Hakemli Dergi; Psychiatry and Clinical Neurosciences; Yurt dışı; Dusak, A. vd. (2012). "Progressive cerebroretinal microangiopathy with calcifications and cysts syndrome: An unusual cause of complex partial seizure". Psychiatry and Clinical Neurosciences, 66(5), 460-460.; https://doi.org/10.1111/j.1440-1819.2012.02367.x; http://hdl.handle.net/11452/25798; 000306895600014; 2-s2.0-84864416554; 460; 66

الاتاحة: http://hdl.handle.net/11452/25798
https://doi.org/10.1111/j.1440-1819.2012.02367.x
https://onlinelibrary.wiley.com/doi/10.1111/j.1440-1819.2012.02367.x

المؤلفون: Isolan, Gustavo Rassier, Cabral, Lucas Scotta, Castro Júnior, Cláudio Galvão de, Antunes, Ápio Cláudio, Schwartsmann, Gilberto, Falcetta, Frederico Soares

المصدر: Journal of Epilepsy and Clinical Neurophysiology. September 2010 16(3)

مصطلحات موضوعية: Leukoencephalopathy, cerebral calcifications, brain cysts, epilepsy

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-26492010000300006

المؤلفون: Evran, Mehtap, Akkus, Gamze, Sert, Murat, Tetiker, Tamer

المساهمون: Çukurova Üniversitesi

مصطلحات موضوعية: Fahr's disease, cerebral calcifications, hypoparathyroidism

Relation: CUKUROVA MEDICAL JOURNAL; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/20.500.12605/8369; 40; 836; 840

الاتاحة: https://hdl.handle.net/20.500.12605/8369

المؤلفون: Ajay Gulati, Paramjeet Singh, Subramaniyan Ramanathan, N Khandelwal

المصدر: Annals of Indian Academy of Neurology, Vol 14, Iss 4, Pp 310-312 (2011)

مصطلحات موضوعية: Calcification, cerebral cysts, labrune syndrome, leukoencephalopathy, cerebral calcifications and cysts, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2011;volume=14;issue=4;spage=310;epage=312;aulast=Gulati; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

URL الوصول: https://doaj.org/article/2f137ab7fc0147f5ad1adf331ea20293

المؤلفون: Hashmi, Atif, Edhi, Muhammad, Faridi, Naveen, Hosein, Mervyn, Khan, Mehmood

مصطلحات موضوعية: Gorlin syndrome, Keratocystic odontogenic tumor, Falx cerebral calcifications

Relation: http://www.biomedcentral.com/1756-0500/9/357

الاتاحة: http://www.biomedcentral.com/1756-0500/9/357

المؤلفون: Xu, Zhiwen, Lo, Wing-Sze, Beck, David B., Schuch, Luise A., Oláhová, Monika, Kopajtich, Robert, Chong, Yeeting E., Alston, Charlotte L., Seidl, Elias, Zhai, Liting, Lau, Ching-Fun, Timchak, Donna, LeDuc, Charles A., Borczuk, Alain C., Teich, Andrew F., Juusola, Jane, Sofeso, Christina, Müller, Christoph, Pierre, Germaine, Hilliard, Tom, Turnpenny, Peter D., Wagner, Matias, Kappler, Matthias, Brasch, Frank, Bouffard, John Paul, Nangle, Leslie A., Yang, Xiang-Lei, Zhang, Mingjie, Taylor, Robert W., Prokisch, Holger, Griese, Matthias, Chung, Wendy K., Schimmel, Paul

المصدر: American Journal of Human Genetics

مصطلحات موضوعية: cholesterol pneumonitis, interstitial lung disease, Lung Diseases, Male, Heterozygote, tRNA synthetase, Adolescent, missense mutation, multi-system disease, non-coding variant, Infant, Genes, Recessive, bi-allelic mutation, Article, Amino Acyl-tRNA Synthetases, cerebral calcifications, Charcot-Marie-Tooth Disease, Child, Preschool, Protein Biosynthesis, Mutation, Humans, Female, non-canonical function, exome sequencing, Alleles

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5c66807ca474008e6ee139dd234b516a
http://europepmc.org/articles/PMC6035289

المؤلفون: Radiol Bras Set/out, Gustavo Nunes, Medina Coeli, Rodrigo Ribeiro Tiengo, Afonso Carlos Da Silva, José Otávio, Meyer Fern, Guilherme Carlos Da Silva

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.scielo.br/pdf/rb/v45n5/en_12.pdf.

مصطلحات موضوعية: Neurocysticercosis, Reactivation, Cerebral calcifications

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1000.5536; http://www.scielo.br/pdf/rb/v45n5/en_12.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1000.5536
http://www.scielo.br/pdf/rb/v45n5/en_12.pdf

المؤلفون: Borck, Guntram, Mollà-Herman, Anahi, Boddaert, Nathalie, Encha-Razavi, Ferechte, Philippe, Anne, Robel, Laurence, Desguerre, Isabelle, Brunelle, Francis, Benmerah, Alexandre, R., Munnich, Arnold, Colleaux, Laurence

المساهمون: Universität Ulm - Ulm University Ulm, Allemagne, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Cytogénétique et Embryologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire de Mathématiques Jean Leray (LMJL), Université de Nantes - UFR des Sciences et des Techniques (UN UFR ST), Université de Nantes (UN)-Université de Nantes (UN)-Centre National de la Recherche Scientifique (CNRS), Troubles du comportement alimentaire de l'adolescent (UMR_S 669), Université Paris-Sud - Paris 11 (UP11)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neuropédiatrie, Service de radiologie pédiatrique CHU Necker, Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781)

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: mental retardation, clathrin, adaptor protein complex 1, AP-1, cerebral calcifications, elevated CSF protein levels, AP1S2, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

الاتاحة: https://hal.science/hal-02044435
https://hal.science/hal-02044435v1/document
https://hal.science/hal-02044435v1/file/AP1S2.pdf
https://doi.org/10.1002/humu.20531

المؤلفون: Moscote-Salazar, Luis Rafael, Calderon-Miranda, Willem Guillermo, Deluquez Baute, Ray Vicente, Agrawal, Amit, Satyarthee, Guru Dutta, Maraby-Salgado, Johana, Padilla-Zambrano, Huber Said, Lopez-Cepeda, Daniela, Pacheco-Hernandez, Alfonso, Joaquim, Andrei F.

المصدر: Journal of Pediatric Neurosciences

مصطلحات موضوعية: cerebral calcifications, pediatrics, interferon alpha, spasticity, Case Report, Cerebral atrophy, dystonia, lymphocytosis, encephalopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::4862bd3a74e5ef464c52ea75772c2c7c
http://europepmc.org/articles/PMC5982501