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1. Full Text The complexity of classifying ANCA-associated small-vessel vasculitis in actual clinical practice: data from a multicenter retrospective survey
by Corral-Gudino, Luis and Gonzalez-Vazquez, Elvira and Calero-Paniagua, Ismael and Perez-Garrido, Laura and Cusacovich, Ivan and Rivas-Lamazares, Alicia and Quesada-Moreno, Alba and Gonzalez-Fernandez, Ana and Mora-Pena, Damian and Lerma-Marquez, Jose Luis and del-Pino-Montes, Javier
Rheumatology international, ISSN 0172-8172, 02/2020, Volume 40, Issue 2, pp. 303 - 311
Life Sciences & Biomedicine | Rheumatology | Science & Technology | Recurrence | Gastrointestinal Diseases - physiopathology | Humans | Middle Aged | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis - physiopathology | Epistaxis - physiopathology | Male | Peripheral Nervous System Diseases - physiopathology | Antibodies, Antineutrophil Cytoplasmic - immunology | Skin Diseases - physiopathology | Gastrointestinal Diseases - pathology | Granulomatosis with Polyangiitis - classification | Sinusitis - pathology | Sinusitis - physiopathology | Epistaxis - pathology | Churg-Strauss Syndrome - physiopathology | Kidney Failure, Chronic - physiopathology | Primary Prevention | Churg-Strauss Syndrome - classification | Kidney Diseases - pathology | Mortality | Skin Diseases - immunology | Hypertension - immunology | Hypertension - pathology | Kidney Diseases - immunology | Lung Diseases - immunology | Lung Diseases - physiopathology | Eye Diseases - physiopathology | Kidney Diseases - physiopathology | Prognosis | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis - pathology | Skin Diseases - pathology | Microscopic Polyangiitis - classification | Granulomatosis with Polyangiitis - immunology | Sinusitis - immunology | Female | Granulomatosis with Polyangiitis - physiopathology | Microscopic Polyangiitis - immunology | Peripheral Nervous System Diseases - pathology | Retrospective Studies | Eye Diseases - pathology | Peripheral Nervous System Diseases - immunology | Gastrointestinal Diseases - immunology | Granulomatosis with Polyangiitis - pathology | Epistaxis - immunology | Microscopic Polyangiitis - physiopathology | Severity of Illness Index | Peroxidase - immunology | Eye Diseases - immunology | Myeloblastin - immunology | Proportional Hazards Models | Churg-Strauss Syndrome - pathology | Hypertension - physiopathology | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis - classification | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis - immunology | Aged | Churg-Strauss Syndrome - immunology | Lung Diseases - pathology | Microscopic Polyangiitis - pathology | Clinical medicine | Index Medicus
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2. Full Text Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects
by De Mori, Roberta and Romani, Marta and D’Arrigo, Stefano and Zaki, Maha S and Lorefice, Elisa and Tardivo, Silvia and Biagini, Tommaso and Stanley, Valentina and Musaev, Damir and Fluss, Joel and Micalizzi, Alessia and Nuovo, Sara and Illi, Barbara and Chiapparini, Luisa and Di Marcotullio, Lucia and Issa, Mahmoud Y and Anello, Danila and Casella, Antonella and Ginevrino, Monia and Leggins, Autumn Sa’na and Roosing, Susanne and Alfonsi, Romina and Rosati, Jessica and Schot, Rachel and Mancini, Grazia Maria Simonetta and Bertini, Enrico and Dobyns, William B and Mazza, Tommaso and Gleeson, Joseph G and Valente, Enza Maria
American journal of human genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 552 - 563
polymicrogyria | developmental defects | hypomorphic variants | congenital ataxia | ciliopathies | SUFU | Joubert syndrome | Sonic Hedgehog | molar tooth sign | GLI3 | Congenital ataxia | Hypomorphic variants | Developmental defects | Ciliopathies | Polymicrogyria | Molar tooth sign | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Skin - metabolism | Humans | Zinc Finger Protein Gli3 | Hedgehog Proteins - metabolism | Male | Bone Diseases, Developmental - genetics | Mutation, Missense | Cerebellum - abnormalities | Bone Diseases, Developmental - pathology | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Kidney Diseases, Cystic - genetics | Craniofacial Abnormalities - pathology | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Repressor Proteins - metabolism | Skin - pathology | Fibroblasts - metabolism | Repressor Proteins - chemistry | Signal Transduction | Cells, Cultured | Repressor Proteins - genetics | Eye Abnormalities - genetics | Fibroblasts - pathology | Genes, Recessive | Sequence Analysis, DNA | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Nerve Tissue Proteins - metabolism | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Cohort Studies | Embryonic development | Usage | Gene mutations | Analysis | Nucleotide sequencing | Research | Diagnosis | Children | Health aspects | DNA sequencing | Index Medicus
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3. Full Text Reduced non–rapid eye movement sleep is associated with tau pathology in early Alzheimer’s disease
by Lucey, Brendan P and McCullough, Austin and Landsness, Eric C and Toedebusch, Cristina D and McLeland, Jennifer S and Zaza, Aiad M and Fagan, Anne M and McCue, Lena and Xiong, Chengjie and Morris, John C and Benzinger, Tammie L.S and Holtzman, David M
Science translational medicine, ISSN 1946-6234, 01/2019, Volume 11, Issue 474, p. eaau6550
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Alzheimer Disease - physiopathology | Eye Movements - physiology | Sleep, Slow-Wave | Humans | tau Proteins - metabolism | Male | Positron-Emission Tomography | tau Proteins - cerebrospinal fluid | Alzheimer Disease - cerebrospinal fluid | Alzheimer Disease - pathology | Amyloid - metabolism | Amyloid beta-Peptides - metabolism | Female | Aged | Alzheimer Disease - diagnostic imaging | Sleep - physiology | Neuroimaging | Animal models | Neurodegenerative diseases | EEG | Cognitive ability | Sleep (REM) | Cerebrospinal fluid | Atrophy | Tau protein | Sleep (NREM) | Aging | Amyloid | Neocortex | Alzheimer's disease | Index Medicus
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4. Full Text Sorsby fundus dystrophy – A review of pathology and disease mechanisms
by Christensen, David R.G and Brown, Ffion E and Cree, Angela J and Ratnayaka, J. Arjuna and Lotery, Andrew J
Experimental eye research, ISSN 0014-4835, 12/2017, Volume 165, pp. 35 - 46
Cell culture | Tissue inhibitor of matrix metalloproteinases-3 | Sorsby fundus dystrophy | Induced pluripotent stem cells | AMD | Disease modelling | Retinal pigment epithelium | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Macular Degeneration - etiology | Macular Degeneration - physiopathology | Humans | Cells, Cultured | Retinal Dystrophies - etiology | Tissue Inhibitor of Metalloproteinase-3 - physiology | Retinal Dystrophies - physiopathology | Retinal Dystrophies - epidemiology | Models, Biological | Macular Degeneration - epidemiology | Matrix Metalloproteinases - physiology | Neovascularization, Pathologic - physiopathology | Tissue Inhibitor of Metalloproteinase-3 - genetics | Macular degeneration | Medical research | Analysis | Stem cells | Blindness | Medicine, Experimental | Protein binding | Index Medicus
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5. Full Text Cell therapy for basement membrane-linked diseases
by Nyström, Alexander and Bornert, Olivier and Kühl, Tobias
Matrix biology, ISSN 0945-053X, 01/2017, Volume 57-58, Issue 1, pp. 124 - 139
Rare diseases | Therapy | Skin | Muscle | Kidney | Basement membrane | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Brain Diseases - metabolism | Cell- and Tissue-Based Therapy - methods | Fibroblasts - transplantation | Heart Diseases - metabolism | Humans | Extracellular Matrix - metabolism | Skin Diseases - pathology | Basement Membrane - pathology | Stem Cell Transplantation | Mesenchymal Stromal Cells - cytology | Brain Diseases - therapy | Keratinocytes - transplantation | Induced Pluripotent Stem Cells - cytology | Eye Diseases - pathology | Fibroblasts - metabolism | Induced Pluripotent Stem Cells - metabolism | Kidney Diseases - metabolism | Skin Diseases - therapy | Skin Diseases - metabolism | Kidney Diseases - pathology | Muscular Diseases - metabolism | Induced Pluripotent Stem Cells - transplantation | Mesenchymal Stromal Cells - metabolism | Eye Diseases - metabolism | Keratinocytes - cytology | Muscular Diseases - pathology | Basement Membrane - metabolism | Brain Diseases - pathology | Heart Diseases - therapy | Keratinocytes - metabolism | Kidney Diseases - therapy | Fibroblasts - cytology | Extracellular Matrix - pathology | Muscular Diseases - therapy | Heart Diseases - pathology | Eye Diseases - therapy | Proteins | Bone marrow | Transplantation | Hematopoietic stem cells | Extracellular matrix | Genetic disorders | Mutation | Microscopy | Pluripotency | Stem cells | Index Medicus
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6. Full Text Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
by Mishra, Aniket and Vitart, Veronique and Bykhovskaya, Yelena and Höhn, René and Springelkamp, Henriët and Cuellar-Partida, Gabriel and Willoughby, Colin E and Yazar, Seyhan and Nag, Abhishek and Polašek, Ozren and Tham, Yih Chung and Kearns, Lisa S and Shi, Yuan and Taylor, Kent D and Wang, Jie Jin and Attia, John and Holliday, Elizabeth G and Baird, Paul N and Xie, Jing and Inouye, Michael and Sim, Xueling and Bonnemaijer, Pieter and Rotter, Jerome I and Zeller, Tanja and Mills, Richard A and Staffieri, Sana E and Jonas, Jost B and Schmidtmann, Irene and Boutin, Thibaud and Lucas, Sionne E. M and Wong, Tien Yin and Beutel, Manfred E and Wilson, James F and Budenz, Donald L and Christen, William G and Fingert, John and Gaasterland, Douglas and Gaasterland, Terry and Hauser, Michael A and Lichter, Paul R and Liu, Yutao and Loomis, Stephanie J and Realini, Anthony and Richards, Julia E and Schuman, Joel S and Singh, Kuldev and Vollrath, Douglas and Wollstein, Gadi and Donnelly, Peter and Barroso, Ines and Bramon, Elvira and Brown, Matthew A and Casas, Juan P and Corvin, Aiden and Deloukas, Panos and Duncanson, Auey and Jankowski, Janusz and Mathew, Christopher G and Palmer, Colin N. A and Sawcer, Stephen J and Wood, Nicholas W and Spencer, Chris C. A and Band, Gavin and Bellenguez, C. line and Hellenthal, Garrett and Giannoulatou, Eleni and Pirinen, Matti and Pearson, Richard and Strange, Amy and Su, Zhan and Vukcevic, Damjan and Langford, Cordelia and Hunt, Sarah E and Edkins, Sarah and Gwilliam, Rhian and Blackburn, Hannah and Bumpstead, Suzannah J and Hammond, Naomi and Jayakumar, Alagurevathi and McCann, Owen T and Liddle, Jennifer and Potter, Simon C and Ravinarajah, Radhi and Ricketts, Michelle and Waller, Matthew and Widaa, Sara and Whittaker, Pamela and Uitterlinden, Ané G and Vithana, Eranga N and Hewitt, Alex W and Khor, Chiea Chuen and Klaver, Caroline C. W and Aung, Tin and Pfeiffer, Norbert and MacKey, David A and Cheng, Ching-Yu and Rabinowitz, Yaron S and Wiggs, Janey L and Burdon, Kathryn P and MacGregor, Stuart and Blue Mountains Eye Study-GWAS Grp and NEIGHBORHOOD Consortium and Wellcome Trust Case Control Consor and Blue Mountains Eye Study—GWAS group and Wellcome Trust Case Control Consortium 2 (WTCCC2)
Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 1864 - 11
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Lumican - metabolism | Glaucoma, Open-Angle - genetics | Humans | Corneal Diseases - metabolism | Corneal Dystrophies, Hereditary - ethnology | Corneal Diseases - genetics | Ehlers-Danlos Syndrome - genetics | Corneal Dystrophies, Hereditary - pathology | Loeys-Dietz Syndrome - metabolism | Mendelian Randomization Analysis | Fibrillin-1 - metabolism | Cornea - pathology | Keratoconus - pathology | Corneal Diseases - pathology | Decorin - genetics | Gene Expression | Eye Diseases, Hereditary - pathology | Lumican - genetics | ADAMTS Proteins - metabolism | Proteoglycans - metabolism | Ehlers-Danlos Syndrome - ethnology | European Continental Ancestry Group | Myopia - pathology | Cornea - metabolism | Myopia - ethnology | Loeys-Dietz Syndrome - pathology | Corneal Diseases - ethnology | Marfan Syndrome - metabolism | Marfan Syndrome - pathology | Cornea - abnormalities | Quantitative Trait Loci | Proteoglycans - genetics | ADAMTS Proteins - genetics | Transforming Growth Factor beta2 - metabolism | Corneal Dystrophies, Hereditary - genetics | Glaucoma, Open-Angle - pathology | Keratoconus - metabolism | Loeys-Dietz Syndrome - ethnology | Glaucoma, Open-Angle - ethnology | Myopia - metabolism | Ehlers-Danlos Syndrome - pathology | Marfan Syndrome - ethnology | Keratoconus - genetics | Glaucoma, Open-Angle - metabolism | Fibrillin-1 - genetics | Eye Diseases, Hereditary - ethnology | Genome-Wide Association Study | Quantitative Trait, Heritable | Corneal Dystrophies, Hereditary - metabolism | Marfan Syndrome - genetics | Eye Diseases, Hereditary - genetics | Myopia - genetics | Asian Continental Ancestry Group | Keratoconus - ethnology | Ehlers-Danlos Syndrome - metabolism | Loeys-Dietz Syndrome - genetics | Polymorphism, Single Nucleotide | Transforming Growth Factor beta2 - genetics | Genome, Human | Decorin - metabolism | Eye Diseases, Hereditary - metabolism | Glaucoma | Cornea | Genes | Myopia | Association analysis | Genomes |