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1. Full Text Transient ciliogenes̀is involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation
by Marion, Vincent and Stoetzel, Corinne and Schlicht, Dominique and Messaddeq, Nadia and Koch, Michael and Flori, Elisabeth and Danse, Jean Marc and Mandel, Jean-Louis and Dollfus, Hélène
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 02/2009, Volume 106, Issue 6, pp. 1820 - 1825
Ciliopathy | Obesity | Primary cilium | Adipogenesis
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2. Full Text Intestinal cell kinase, aprotein associated with endocrine-cerebro- osteodysplasia syndrome,is a key regulator of cilia length and Hedgehog signaling
by Moon, Heejung and Song, Jieun and Shin, Jeong-Oh and Lee, Hankyu and Kim, Hong-Kyung and Eggenschwiller, Jonathan T and Bok, Jinwoong and Ko, Hyuk Wan
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 06/2014, Volume 111, Issue 23, pp. 8541 - 8546
Ciliopathy | Smoothened | MRK | LF4 | Gli2
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3. Full Text Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells
by May-Simera, Helen Louise and Wan, Qin and Jha, Balendu Shekhar and Hartford, Juliet and Khristov, Vladimir and Dejene, Roba and Chang, Justin and Patnaik, Sarita and Lu, Quanlong and Banerjee, Poulomi and Silver, Jason and Insinna-Kettenhofen, Christine and Patel, Dishita and Lotfi, Mostafa and Malicdan, May and Hotaling, Nathan and Maminishkis, Arvydas and Sridharan, Rupa and Brooks, Brian and Miyagishima, Kiyoharu and Gunay-Aygun, Meral and Pal, Rajarshi and Westlake, Christopher and Miller, Sheldon and Sharma, Ruchi and Bharti, Kapil
Cell Reports, ISSN 2211-1247, 01/2018, Volume 22, Issue 1, pp. 189 - 205
Primary cilia are sensory organelles that protrude from the cell membrane. Defects in the primary cilium cause ciliopathy disorders, with retinal degeneration... 
primary cilium | cell maturation | RPE | apical-basal polarity | cilia | retinal pigment epithelium | WNT signaling | CEP290 | ciliopathy | iPS cells | PLURIPOTENT STEM-CELLS | ION-TRANSPORT MECHANISMS | TRANSITION ZONE | POLARITY | GENE | WNT PATHWAY | MEMBRANE | DISEASE | MOUSE | FLUID TRANSPORT | CELL BIOLOGY | Induced Pluripotent Stem Cells - pathology | Ciliopathies - therapy | Retinal Pigment Epithelium - metabolism | Cilia - pathology | Retinal Degeneration - genetics | Induced Pluripotent Stem Cells - transplantation | Retinal Degeneration - metabolism | Cilia - metabolism | Cilia - genetics | Mice, Knockout | Protein Kinase C-delta - metabolism | Respiratory Mucosa - pathology | Ciliopathies - genetics | Retinal Pigment Epithelium - pathology | Animals | Ciliopathies - metabolism | Retinal Degeneration - therapy | Mice | Respiratory Mucosa - metabolism | Retinal Degeneration - pathology | Protein Kinase C-delta - genetics | Ciliopathies - pathology | Induced Pluripotent Stem Cells - metabolism | Index Medicus
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4. Full Text Interplay Between Primary Cilia and Autophagy and Its Controversial Roles in Cancer
by Je Yeong Ko and and Eun Ji Lee and Jong Hoon Park
Biomolecules & Therapeutics(구 응용약물학회지), ISSN 1976-9148, 2019, Volume 27, Issue 4, p. 337
Primary cilia and autophagy are two distinct nutrient-sensing machineries required for maintaining intracellular energy homeostasis, either via signal... 
Ciliopathy | Autophagy | Cilia | Cancer
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5. Full Text Advances in the Genetics of Primary Ciliary Dyskinesia
by Horani, Amjad and Ferkol, Thomas W
Chest, ISSN 0012-3692, 09/2018, Volume 154, Issue 3, pp. 645 - 652
Primary ciliary dyskinesia is a rare genetic disease of the motile cilia and is one of a rapidly expanding collection of disorders known as ciliopathies.... 
cilia | mucociliary clearance | bronchiectasis | axoneme | ciliopathy
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6. Full Text Defective ciliogenesis in INPP5E‐related Joubert syndrome
by Hardee, Isabel and Soldatos, Ariane and Davids, Mariska and Vilboux, Thierry and Toro, Camilo and David, Karen L and Ferreira, Carlos R and Nehrebecky, Michele and Snow, Joseph and Thurm, Audrey and Heller, Theo and Macnamara, Ellen F and Gunay‐Aygun, Meral and Zein, Wadih M and Gahl, William A and Malicdan, May Christine V
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2017, Volume 173, Issue 12, pp. 3231 - 3237
Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance... 
rare disorders | Joubert syndrome | INPP5E | molar‐tooth sign | ciliopathy | molar-tooth sign | INPP5E MUTATIONS | AUTOPHAGOSOME-LYSOSOME FUSION | CILIOPATHIES | DISEASE | GENETICS & HEREDITY | DISORDERS | Abnormalities, Multiple - pathology | Eye Abnormalities - diagnostic imaging | Humans | Kidney Diseases, Cystic - diagnostic imaging | Cerebellum - abnormalities | Ciliopathies - diagnosis | Young Adult | Ciliopathies - genetics | Cerebellum - diagnostic imaging | Kidney Diseases, Cystic - genetics | Female | Abnormalities, Multiple - genetics | Phosphoric Monoester Hydrolases - genetics | Cilia - pathology | Abnormalities, Multiple - diagnostic imaging | Eye Abnormalities - genetics | Fibroblasts - pathology | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Homozygote | Magnetic Resonance Imaging | Retina - diagnostic imaging | Phenotype | Eye Abnormalities - pathology | Pedigree | Adolescent | Retina - abnormalities | Mutation | Retina - pathology | Ciliopathies - pathology | Medicine, Experimental | Medical research | Inositol | Phosphatases | RNA | Analysis | Cerebellum | Brain | Brain stem | Congenital defects | Teeth | Cognitive ability | Inositol polyphosphate | Retina | mRNA | Neurodevelopmental disorders | Sleep disorders | Apnea | Magnetic resonance imaging | Polydactyly | Fibroblasts | Retinal degeneration | Hindbrain | Ataxia | Dystrophy | Inositol-1,4,5-trisphosphate 5-phosphatase | Cilia | Index Medicus
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7. Full Text Phenotypic spectrum of children with nephronophthisis and related ciliopathies
by König, Jens and Kranz, Birgitta and König, Sabine and Schlingmann, Karl Peter and Titieni, Andrea and Tönshoff, Burkhard and Habbig, Sandra and Pape, Lars and Häffner, Karsten and Hansen, Matthias and Büscher, Anja and Bald, Martin and Billing, Heiko and Schild, Raphael and Walden, Ulrike and Hampel, Tobias and Staude, Hagen and Riedl, Magdalena and Gretz, Norbert and Lablans, Martin and Bergmann, Carsten and Hildebrandt, Friedhelm and Omran, Heymut and Konrad, Martin and Gesell Padiat Nephrologie GPN and Gesellschaft für Pädiatrische Nephrologie (GPN)
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 12/2017, Volume 12, Issue 12, pp. 1974 - 1983
Background and objectives Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date,... 
Prevalence | Nephronophthisis related ciliopathy | Ciliopathies | Joubert-like syndromes | NEPHREG registry | Bardet-Biedl syndrome | Senior-Løken syndrome | Congenital oculomotor apraxia | Genetic heterogeneity | Kidney diseases, cystic | Homozygote | Kidney failure, chronic | Nephronophthisis (NPH) | Adolescent | Mainzer-Saldino syndrome | Registries | Mutation | COACH syndrome | Nephronophthisis, familial juvenile | Cross-Sectional studies | ADOLESCENT NEPHRONOPHTHISIS | JOUBERT-SYNDROME | FAMILIAL JUVENILE NEPHRONOPHTHISIS | SENIOR-LOKEN SYNDROME | CYSTIC KIDNEY-DISEASE | GENE | RENAL-FAILURE | UROLOGY & NEPHROLOGY | NPHP3 | MUTATIONS | DOMAIN PROTEIN | Polyuria - genetics | Humans | Kidney Diseases, Cystic - diagnostic imaging | Male | Ciliopathies - complications | Nervous System Diseases - genetics | Young Adult | Ciliopathies - genetics | Anemia - genetics | Kidney - diagnostic imaging | Ultrasonography | Kidney Diseases, Cystic - genetics | Kinesin - genetics | Female | Glomerular Filtration Rate - genetics | Neoplasm Proteins - genetics | Child | Calmodulin-Binding Proteins - genetics | Kidney Failure, Chronic - physiopathology | Antigens, Neoplasm - genetics | Cross-Sectional Studies | Membrane Proteins - genetics | Kidney Failure, Chronic - genetics | Proteins - genetics | Carrier Proteins - genetics | Phenotype | Adaptor Proteins, Signal Transducing - genetics | Kidney Diseases, Cystic - complications | Kidney Diseases, Cystic - congenital | Longitudinal Studies | Index Medicus | Genetic Heterogeneity | Kidney Diseases, Cystic | Kidney Failure, Chronic | Original
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8. Full Text BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan
by Khan, Shazia and Lin, Siying and Harlalka, Gaurav V and Ullah, Asmat and Shah, Khadim and Khalid, Sumbul and Mehmood, Sarmad and Hassan, Muhammad Jawad and Ahmad, Wasim and Self, Jay E and Crosby, Andrew H and Baple, Emma L and Gul, Asma
Annals of Human Genetics, ISSN 0003-4800, 2019
Ciliopathies are a clinically and genetically heterogeneous group of disorders often exhibiting phenotypic overlap and caused by abnormalities in the structure... 
MORM | BBS | exome INPP5E | BBS5 | ciliopathy | sequencing
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9. Full Text An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
by Boldt, K and Reeuwijk, J. van and Lu, Q and Koutroumpas, K and Nguyen, T.T.M and Texier, Y and Beersum, S.E.C. van and Horn, N and Willer, J.R and Mans, D.A and Dougherty, G and Lamers, I.J and Coene, K.L.M and Arts, H.H and Betts, M.J and Beyer, T and Bolat, E and Gloeckner, C.J and Haidari, K and Hetterschijt, E.C and Iaconis, D and Jenkins, D and Klose, F and Knapp, B and Latour, B.L and Letteboer, S.J.F and Marcelis, C.L.M and Mitic, D and Morleo, M and Oud, M.M and Riemersma, M and Rix, S and Terhal, P.A and Toedt, G and Dam, T.J.P. van and Vrieze, E. de and Wissinger, Y and Wu, K.M and Apic, G and Beales, P.L and Blacque, O.E and Gibson, T.J and Huynen, M.A and Katsanis, N and Kremer, H and Omran, H and WIjk, E. van and Wolfrum, U and Kepes, F and Davis, E.E and Franco, B and Giles, R.H and Ueffing, M and Russell, R.B and Roepman, R and UK10K Rare Dis Grp and UK10K Rare Diseases Group
Nature Communications, ISSN 2041-1723, 2016, Volume 7, Issue 1, pp. 11491 - 11491
Cellular organelles provide opportunities to relate biological mechanisms to disease. Here we use affinity proteomics, genetics and cell biology to interrogate... 
NETWORK REVEALS | CELLS | COMPLEX | TANDEM AFFINITY PURIFICATION | MICROTUBULE | MULTIDISCIPLINARY SCIENCES | CILIOGENESIS | MUTATIONS | INTRAFLAGELLAR TRANSPORT | STATISTICAL-MODEL | PRIMARY CILIA | Humans | Proteins - isolation & purification | Protein Interaction Maps | Spine - abnormalities | Ciliopathies - genetics | Muscle Hypotonia - therapy | DNA Mutational Analysis | Systems Analysis | Mass Spectrometry | HEK293 Cells | Fibroblasts | Dwarfism - pathology | Proteomics - methods | Spine - pathology | Chromatography, Affinity - methods | Molecular Targeted Therapy - methods | Ciliopathies - therapy | Datasets as Topic | Muscle Hypotonia - genetics | Cilia - metabolism | Proteins - genetics | Dwarfism - genetics | Muscle Hypotonia - pathology | Protein Interaction Mapping - methods | Dwarfism - therapy | Proteins - metabolism | Biological Transport - physiology | Ciliopathies - pathology | Index Medicus
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10. Full Text A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies
by Srivastava, Shalabh and Ramsbottom, Simon A and Molinari, Elisa and Alkanderi, Sumaya and Filby, Andrew and White, Kathryn and Henry, Charline and Saunier, Sophie and Miles, Colin G and Sayer, John A
Human Molecular Genetics, ISSN 0964-6906, 12/2017, Volume 26, Issue 23, pp. 4657 - 4667
Joubert syndrome (JBTS) is the archetypal ciliopathy caused by mutation of genes encoding ciliary proteins leading to multisystem phenotypes, including a... 
LOCALIZATION | ACTIVATION | CILIOPATHIES | PATHWAY | POLYCYSTIC KIDNEY-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | LENGTH | GENETICS & HEREDITY | MUTATIONS | CEP290 | CENTROSOMAL PROTEIN | FEATURES | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Polycystic Kidney Diseases - genetics | Retina - metabolism | Epithelial Cells - drug effects | Eye Abnormalities - drug therapy | Humans | Child, Preschool | Kidney Diseases, Cystic - drug therapy | Male | Abnormalities, Multiple - drug therapy | Cerebellum - abnormalities | Neoplasm Proteins - metabolism | Ciliopathies - drug therapy | Cyclin-Dependent Kinase 5 - genetics | Ciliopathies - genetics | Kidney Failure, Chronic - pathology | Antigens, Neoplasm - metabolism | Cilia - drug effects | Kidney Diseases, Cystic - genetics | Roscovitine | Purines - therapeutic use | Neoplasm Proteins - genetics | Child | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Morpholines - therapeutic use | Antigens, Neoplasm - genetics | Cilia - pathology | Signal Transduction | Cerebellum - metabolism | Epithelial Cells - pathology | Eye Abnormalities - genetics | Cilia - metabolism | Cerebellum - pathology | Cilia - genetics | Cyclin-Dependent Kinase 5 - metabolism | Kidney Diseases, Cystic - pathology | Kidney Failure, Chronic - metabolism | Kidney Failure, Chronic - genetics | Kidney Diseases, Cystic - metabolism | Ciliopathies - metabolism | Eye Abnormalities - pathology | Pedigree | Retina - abnormalities | Mutation | Primary Cell Culture | Retina - pathology | Index Medicus
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11. Full Text WDR11‐mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome
by Kim, Yeon‐Joo and Osborn, Daniel PS and Lee, Ji‐Young and Araki, Masatake and Araki, Kimi and Mohun, Timothy and Känsäkoski, Johanna and Brandstack, Nina and Kim, Hyun‐Taek and Miralles, Francesc and Kim, Cheol‐Hee and Brown, Nigel A and Kim, Hyung‐Goo and Martinez‐Barbera, Juan Pedro and Ataliotis, Paris and Raivio, Taneli and Layman, Lawrence C and Kim, Soo‐Hyun
EMBO reports, ISSN 1469-221X, 02/2018, Volume 19, Issue 2, pp. 269 - 289
WDR 11 has been implicated in congenital hypogonadotropic hypogonadism ( CHH ) and Kallmann syndrome ( KS ), human developmental genetic disorders defined by... 
kallmann syndrome | hypogonadotropic hypogonadism | hedgehog signal pathway | ciliopathy | WDR11 | CONGENITAL HYPOGONADOTROPIC HYPOGONADISM | PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE | ELECTRON-MICROSCOPY | CELL BIOLOGY | MUTANT MICE | GENE | HORMONE NEURONS | PATHWAY | DISEASE | PRIMARY CILIA | Humans | Transcriptome | Hedgehog Proteins - metabolism | Gene Expression Profiling | Patched-1 Receptor - genetics | Ciliopathies - genetics | Organ Specificity - genetics | Membrane Proteins - metabolism | Promoter Regions, Genetic | Gene Expression | Genetic Association Studies | Signal Transduction | Kallmann Syndrome - genetics | Membrane Proteins - genetics | Genotype | Zebrafish | Gene Knockout Techniques | Mice, Knockout | Protein Transport | Kallmann Syndrome - metabolism | Magnetic Resonance Imaging | Phenotype | Animals | Ciliopathies - metabolism | Biopsy | Protein Binding | Kallmann Syndrome - diagnosis | Mice | Mutation | Puberty | Congenital diseases | Disorders | Pituitary (anterior) | Gene expression | Nuclei | Gli3 protein | Hypogonadism | Haploinsufficiency | Signal transduction | Signaling | Proteolysis | Hedgehog protein | Infertility | Animal tissues | Age | Cytoplasm | Cilia | Index Medicus | Cell Adhesion, Polarity & Cytoskeleton | Molecular Biology of Disease
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12. Full Text Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis
by Joseph, Nimesh and Al-Jassar, Caezar and Johnson, Christopher M and Andreeva, Antonina and Barnabas, Deepak D and Freund, Stefan M.V and Gergely, Fanni and van Breugel, Mark
Cell Reports, ISSN 2211-1247, 05/2018, Volume 23, Issue 9, pp. 2805 - 2818
Ciliopathies are a group of genetic disorders caused by a failure to form functional cilia. Due to a lack of structural information, it is currently poorly... 
JATD | Joubert syndrome | CEP120 | basal body | Jeuene syndrome | cilia | centriole | centrosome | ciliopathy | C2 DOMAINS | PRIMARY CILIUM FORMATION | RENAL CILIOPATHIES | KIAA0586 CAUSE | CENTRIOLE ELONGATION | JOUBERT SYNDROME | ASPHYXIATING THORACIC DYSTROPHY | CILIOPATHY PHENOTYPES | CENTROSOMAL PROTEIN | MOTHER CENTRIOLE | CELL BIOLOGY | Index Medicus
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13. Full Text Expanding the phenotype of CRB2 mutations – A new ciliopathy syndrome?
by Jaron, R and Rosenfeld, N and Zahdeh, F and Carmi, S and Beni‐Adani, L and Doviner, V and Picard, E and Segel, R and Zeligson, S and Carmel, L and Renbaum, P and Levy‐Lahad, E
Clinical Genetics, ISSN 0009-9163, 12/2016, Volume 90, Issue 6, pp. 540 - 544
Recessive CRB2 mutations were recently reported to cause both steroid resistant nephrotic syndrome and prenatal onset ventriculomegaly with kidney disease. We... 
CRB2 | hydrocephalus | pulmonary hypoplasia | polarity protein | renal disease | ciliopathy | ALLELES | POLARITY | CILIA | GENE | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | MICE | CILIOGENESIS | PROTEINS | RETINITIS-PIGMENTOSA | Microtubule-Associated Proteins - genetics | Membrane Proteins - genetics | Humans | Child, Preschool | Male | Ciliopathies - diagnostic imaging | Jews - genetics | Carrier Proteins - genetics | Ciliopathies - genetics | Phenotype | Ciliopathies - physiopathology | Pedigree | Female | Heterozygote | Mutation | Child | Siblings | Genetic aspects | Genetic disorders | Kidney diseases | Analysis | Genotype & phenotype | Index Medicus
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14. Full Text A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy
by Girisha, K. M and Shukla, A and Trujillano, D and Bhavani, G. S and Hebbar, M and Kadavigere, R and Rolfs, A
Clinical Genetics, ISSN 0009-9163, 12/2016, Volume 90, Issue 6, pp. 536 - 539
Intraflagellar transport ( IFT ) is vital for the functioning of primary cilia. Defects in several components of IFT complexes cause a spectrum of ciliopathies... 
exome sequencing | chondrodysplasia | short rib thoracic dysplasia | sensenbrenner syndrome | intraflagellar transport | ciliopathy | PROTEIN | GENE | GENETICS & HEREDITY | Cilia - pathology | Microtubule-Associated Proteins - genetics | Craniosynostoses - genetics | Humans | Child, Preschool | Craniosynostoses - physiopathology | Mutation - genetics | Ectodermal Dysplasia - physiopathology | Carrier Proteins - genetics | Ciliopathies - genetics | Homozygote | Bone and Bones - physiopathology | Exome - genetics | Phenotype | Ciliopathies - physiopathology | Female | Ectodermal Dysplasia - genetics | High-Throughput Nucleotide Sequencing | Bone and Bones - abnormalities | Dysplasia | Genomics | Genotype & phenotype | Skeletal system | Genetic disorders | Index Medicus
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15. Full Text Mutations in TTC21B cause different phenotypes in two childhood cases in China
by Zhang, Hongwen and Su, Baige and Liu, Xiaoyu and Xiao, Huijie and Ding, Jie and Yao, Yong
Nephrology, ISSN 1320-5358, 04/2018, Volume 23, Issue 4, pp. 371 - 376
This manuscript described two paediatric Chinese children carrying three novel mutations in TTC21B gene. This case report will provide meaningful information... 
end‐stage renal disease | nephronophthisis | ciliopathies | TTC21B | end-stage renal disease | UROLOGY & NEPHROLOGY | RENAL CILIOPATHIES | Kidney Diseases, Cystic - diagnosis | Microtubule-Associated Proteins - genetics | Humans | Infant | Male | Ciliopathies - complications | DNA Mutational Analysis - methods | Ciliopathies - diagnosis | Ciliopathies - genetics | Time Factors | Glomerulosclerosis, Focal Segmental - etiology | China | Fatal Outcome | Kidney Diseases, Cystic - genetics | Female | Child | Genetic Predisposition to Disease | Disease Progression | Homozygote | Phenotype | Heterozygote | Kidney Diseases, Cystic - complications | High-Throughput Nucleotide Sequencing | Mutation | Kidney Failure, Chronic - etiology | Genetic research | Genetic aspects | Chronic kidney failure | Gene mutations | Analysis | Nephronophthisis | Liver diseases | Fibrosis | Renal failure | Tubules | Children | Kidney diseases | Sclerosis | Proteinuria | Index Medicus
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