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cerebroretinal microangiopathy (28) 28
humans (27) 27
index medicus (27) 27
clinical neurology (20) 20
leukoencephalopathy (20) 20
cysts (15) 15
female (15) 15
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ctc1 (11) 11
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retinal diseases - genetics (8) 8
disease (7) 7
middle aged (7) 7
mutation (7) 7
stroke (7) 7
telomere-binding proteins - genetics (7) 7
cadasil (6) 6
calcinosis - genetics (6) 6
calcinosis - pathology (6) 6
cerebral calcifications (6) 6
cerebroretinal vasculopathy (6) 6
coats plus (6) 6
genetic aspects (6) 6
genetics & heredity (6) 6
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subcortical infarcts (6) 6
telomeres (6) 6
calcinosis - complications (5) 5
care and treatment (5) 5
central nervous system cysts - genetics (5) 5
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brain neoplasms - genetics (4) 4
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calcinosis - diagnosis (4) 4
calcinosis - diagnostic imaging (4) 4
calcinosis - physiopathology (4) 4
cerebral calcification (4) 4
child (4) 4
complex (4) 4
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diagnosis (4) 4
diagnosis, differential (4) 4
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intracranial calcification (4) 4
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medical research (4) 4
muscle spasticity - genetics (4) 4
nephropathy (4) 4
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analysis (3) 3
aplastic-anemia (3) 3
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brain - diagnostic imaging (3) 3
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central nervous system cysts - diagnostic imaging (3) 3
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child, preschool (3) 3
coats plus syndrome (3) 3
col4a1 mutations (3) 3
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exodeoxyribonucleases - genetics (3) 3
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health aspects (3) 3
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by Xu, WR and Zhao, JL and Zhu, YC and Zhang, WH
MEDICINE, ISSN 0025-7974, 01/2017, Volume 96, Issue 1, p. e5545
Rational: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is believed to be an autosomal recessive genetic disease, with disorders in... 
inherited diseases | CTC1 | cerebral calcification | cerebroretinal microangiopathy with calcifications and cysts | COMPONENT 1 | MEDICINE, GENERAL & INTERNAL | DISEASE | leukoencephalopathy | DISORDER | case report | MUTATIONS | Calcinosis - genetics | Aftercare - methods | Retinal Diseases - genetics | Brain - diagnostic imaging | Calcinosis - diagnosis | Leukoencephalopathies - genetics | Central Nervous System Cysts - physiopathology | Seizures - genetics | Humans | Brain Neoplasms - physiopathology | Retinal Diseases - therapy | Leukoencephalopathies - physiopathology | Proton Magnetic Resonance Spectroscopy - methods | Muscle Spasticity - therapy | Seizures - physiopathology | Telomere-Binding Proteins - genetics | Leukoencephalopathies - diagnosis | Adult | Central Nervous System Cysts - diagnosis | Female | Ataxia - genetics | Central Nervous System Cysts - therapy | Neuroimaging - methods | Ataxia - physiopathology | Ataxia - therapy | Diagnosis, Differential | Retinal Diseases - diagnosis | Brain Neoplasms - diagnosis | Brain Neoplasms - genetics | Seizures - diagnosis | Seizures - therapy | Ataxia - diagnosis | Disease Progression | Central Nervous System Cysts - genetics | Calcinosis - therapy | Brain Neoplasms - therapy | Brain - pathology | Muscle Spasticity - diagnosis | Leukoencephalopathies - therapy | Disease Management | Muscle Spasticity - physiopathology | Mutation | Retinal Diseases - physiopathology | Muscle Spasticity - genetics | Calcinosis - physiopathology | Care and treatment | Usage | Vasculitis | Diagnosis | Cysts | Lasers in surgery
Journal Article
Molecular Syndromology, ISSN 1661-8769, 01/2011, Volume 1, Issue 4, pp. 159 - 162
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a highly pleiotropic disorder, particularly affecting the eye, brain, bone, and gut.... 
Short Report | Cerebroretinal microangiopathy | Cysts | Gastrointestinal bleeding | Intracranial calcification | Coats plus | CRMCC | GAVE
Journal Article
Clinical Genetics, ISSN 0009-9163, 08/2017, Volume 92, Issue 2, pp. 180 - 187
Journal Article
by Anderson, Beverley H and Kasher, Paul R and Mayer, Josephine and Szynkiewicz, Marcin and Jenkinson, Emma M and Bhaskar, Sanjeev S and Urquhart, Jill E and Daly, Sarah B and Dickerson, Jonathan E and O'Sullivan, James and Leibundgut, Elisabeth Oppliger and Muter, Joanne and Abdel-Salem, Ghada M. H and Babul-Hirji, Riyana and Baxter, Peter and Berger, Anea and Bonafé, Luisa and Brunstom-Hernandez, Janice E and Buckard, Johannes A and Chitayat, David and Chong, Wui K and Cordelli, Duccio M and Ferreira, Patrick and Fluss, Joel and Forrest, Ewan H and Franzoni, Emilio and Garone, Caterina and Hammans, Simon R and Houge, Gunnar and Hughes, Imelda and Jacquemont, Sebastien and Jeannet, Pierre-Yves and Jefferson, Rosalind J and Kumar, Ram and Kutschke, Georg and Lundberg, Staffan and Lourenço, Charles M and Mehta, Ramesh and Naidu, Sakkubai and Nischal, Ken K and Nunes, Luís and Ounap, Katrin and Philippart, Michel and Prabhakar, Prab and Risen, Sarah R and Schiffmann, Raphael and Soh, Calvin and Stephenson, John B. P and Stewart, Helen and Stone, Jon and Tolmie, John L and van der Knaap, Marjo S and Vieira, Jose P and Vilain, Catheline N and Wakeling, Emma L and Wermenbol, Vanessa and Whitney, Anea and Lovell, Simon C and Meyer, Stefan and Livingston, John H and Baerlocher, Gabriela M and Black, Graeme C. M and Rice, Gillian I and Crow, Yanick J and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för kvinnors och barns hälsa and Uppsala universitet
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 3, pp. 338 - 342
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 11/2017, Volume 382, pp. 142 - 145
Coats plus syndrome is a recently described, very rare multisystem disorder. The clinical phenotype is wide and variable, which making the diagnosis more... 
CTC1 | Coats plus syndrome | Calcification | Intracranial | Cysts | Leukoencephalopathy | CEREBRAL MICROANGIOPATHY | DEFECTS | TELOMERE MAINTENANCE | CEREBRORETINAL MICROANGIOPATHY | MAINTENANCE COMPONENT 1 | NEUROSCIENCES | CLINICAL NEUROLOGY | DISORDER | BINDING | CALCIFICATIONS | Calcinosis - genetics | Retinal Diseases - genetics | Leukoencephalopathies - genetics | Central Nervous System Cysts - physiopathology | Seizures - genetics | Brain Neoplasms - diagnostic imaging | Humans | Leukoencephalopathies - diagnostic imaging | Asian Continental Ancestry Group - genetics | Brain Neoplasms - pathology | Brain Neoplasms - physiopathology | Calcinosis - diagnostic imaging | Mutation, Missense | Retinal Diseases - diagnostic imaging | Leukoencephalopathies - physiopathology | Seizures - diagnostic imaging | Young Adult | Seizures - physiopathology | Telomere-Binding Proteins - genetics | Seizures - pathology | China | Retinal Diseases - pathology | Ataxia - diagnostic imaging | Female | Ataxia - genetics | Ataxia - pathology | Ataxia - physiopathology | Leukoencephalopathies - pathology | Brain Neoplasms - genetics | Central Nervous System Cysts - diagnostic imaging | Muscle Spasticity - pathology | Central Nervous System Cysts - pathology | Central Nervous System Cysts - genetics | Family | Muscle Spasticity - physiopathology | Muscle Spasticity - diagnostic imaging | Calcinosis - pathology | Retinal Diseases - physiopathology | Muscle Spasticity - genetics | Calcinosis - physiopathology | Genetic research | Telomeres | Genetic aspects | Genes | Medical research | Medicine, Experimental
Journal Article
JOURNAL FRANCAIS D OPHTALMOLOGIE, ISSN 0181-5512, 09/2016, Volume 39, Issue 7, pp. E167 - E170
Journal Article
Biochemistry, ISSN 0006-2960, 09/2016, Volume 55, Issue 38, pp. 5326 - 5340
Journal Article
Angiogenesis, ISSN 0969-6970, 2/2019, Volume 22, Issue 1, pp. 95 - 102
Journal Article
Genes and Development, ISSN 0890-9369, 04/2016, Volume 30, Issue 7, pp. 812 - 826
Journal Article