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Genetics in Medicine, ISSN 1098-3600, 08/2017, Volume 19, Issue 8, pp. 875 - 882
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2012, Volume 49, Issue 8, pp. 502 - 512
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 01/2018, Volume 38, Issue 1, pp. 33 - 43
Journal Article
Kidney International, ISSN 0085-2538, 08/2018, Volume 94, Issue 2, pp. 363 - 371
Journal Article
Klinische Monatsblatter fur Augenheilkunde, 03/2018, Volume 235, Issue 3, p. 264
Ciliopathies are disorders caused by ciliary dysfunction and can affect an organ system or tissues. Isolated or syndromic retinal dystrophies are the most... 
Cilia - physiology | Kidney Diseases, Cystic - diagnosis | Optic Atrophies, Hereditary - genetics | Humans | Cerebellum - abnormalities | Ciliopathies - diagnosis | Ciliopathies - genetics | Usher Syndromes - genetics | DNA Mutational Analysis | Bardet-Biedl Syndrome - diagnosis | Genetic Diseases, X-Linked - genetics | Neoplasm Proteins - genetics | Optic Atrophies, Hereditary - diagnosis | Abnormalities, Multiple - genetics | Disease Models, Animal | Genotype | Bardet-Biedl Syndrome - physiopathology | Abnormalities, Multiple - physiopathology | Retinal Dystrophies - physiopathology | Retinitis Pigmentosa - diagnosis | Abnormalities, Multiple - diagnosis | Eye Abnormalities - physiopathology | Mice | Optic Atrophies, Hereditary - physiopathology | Retinal Dystrophies - genetics | Microtubule-Associated Proteins - genetics | Kidney Diseases, Cystic - genetics | Bardet-Biedl Syndrome - genetics | Eye Proteins - genetics | Usher Syndromes - physiopathology | Retinitis Pigmentosa - physiopathology | Genetic Diseases, X-Linked - physiopathology | Antigens, Neoplasm - genetics | Kidney Diseases, Cystic - physiopathology | Diagnosis, Differential | Eye Abnormalities - diagnosis | Genetic Association Studies | Leber Congenital Amaurosis - physiopathology | Retina - physiopathology | Retinitis Pigmentosa - genetics | Cerebellum - physiopathology | Leber Congenital Amaurosis - genetics | Eye Abnormalities - genetics | Myosins - genetics | Genetic Diseases, X-Linked - diagnosis | Usher Syndromes - diagnosis | Proteins - genetics | Retinal Dystrophies - diagnosis | Animals | Ciliopathies - physiopathology | Retina - abnormalities | Leber Congenital Amaurosis - diagnosis
Journal Article
Journal Article
BMJ Case Reports, ISSN 1757-790X, 2017, Volume 2017, p. bcr-2017-220459
The police brought a 65-year-old female patient to the EADU after being found 'roaming the streets' in an apparent state of confusion. This was her third... 
Neuroimaging | Neuro genetics | Brain stem / cerebellum | Kidney Diseases, Cystic - diagnosis | Brain - diagnostic imaging | Eye Abnormalities - diagnostic imaging | Genetic Testing | Humans | Liver | Tomography, X-Ray Computed | Ciliopathies - diagnostic imaging | Cerebellum - abnormalities | Ciliopathies - diagnosis | Muscle Hypotonia - diagnosis | Muscle Hypotonia - etiology | Ciliopathies - genetics | Apraxias - diagnosis | Confusion - diagnosis | Abnormalities, Multiple - genetics | Membrane Proteins - genetics | Ataxia - diagnosis | Cerebellum - pathology | Cognition Disorders - diagnosis | Magnetic Resonance Imaging | Eye Abnormalities - pathology | Cogan Syndrome - etiology | Abnormalities, Multiple - diagnosis | Brain - pathology | Retina - pathology | Abnormalities, Multiple - pathology | Cogan Syndrome - diagnosis | Ataxia - etiology | Kidney Diseases, Cystic - diagnostic imaging | Apraxias - etiology | Kidney | Cerebellum - diagnostic imaging | Apraxias - congenital | Cognition Disorders - etiology | Kidney Diseases, Cystic - genetics | Female | Reflex, Vestibulo-Ocular | Eye Abnormalities - diagnosis | Abnormalities, Multiple - diagnostic imaging | Eye Abnormalities - genetics | Syndrome | Kidney Diseases, Cystic - pathology | Retina - diagnostic imaging | Confusion - etiology | Adaptor Proteins, Signal Transducing - genetics | Retina - abnormalities | Aged | Ciliopathies - pathology | Proteins | Medical imaging | Nuclear magnetic resonance--NMR | Congenital diseases | Signs | Learning disabilities | Ophthalmology | Mutation | Medical diagnosis | Abdomen
Journal Article
Journal Article
Lakartidningen, ISSN 0023-7205, 02/2011, Volume 108, Issue 7, p. 332
Kidney Diseases, Cystic - diagnosis | Humans | Uterine Diseases - pathology | Ciliopathies | Cerebellum - abnormalities | Ellis-Van Creveld Syndrome - pathology | Kidney Diseases, Cystic - etiology | Polycystic Kidney, Autosomal Recessive - pathology | Coloboma - pathology | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Polycystic Kidney, Autosomal Dominant - etiology | Obesity - diagnosis | Obesity - etiology | Usher Syndromes - etiology | Hydrocolpos - pathology | Optic Atrophies, Hereditary - diagnosis | Ciliary Motility Disorders - etiology | Kartagener Syndrome - diagnosis | Encephalocele - diagnosis | Coloboma - diagnosis | Intellectual Disability - pathology | Hydrocolpos - diagnosis | Obesity - pathology | Ciliary Motility Disorders - pathology | Eye Abnormalities - pathology | Polycystic Kidney Diseases - etiology | Polycystic Kidney, Autosomal Dominant - diagnosis | Abnormalities, Multiple - diagnosis | Optic Atrophies, Hereditary - etiology | Heart Defects, Congenital - diagnosis | Usher Syndromes - pathology | Intellectual Disability - etiology | Hypogonadism - etiology | Retina - pathology | Ellis-Van Creveld Syndrome - etiology | Abnormalities, Multiple - pathology | Hydrocolpos - etiology | Leber Congenital Amaurosis - pathology | Abnormalities, Multiple - etiology | Polycystic Kidney Diseases - diagnosis | Heart Defects, Congenital - etiology | Cerebellar Diseases - etiology | Polycystic Kidney, Autosomal Dominant - pathology | Polydactyly - diagnosis | Optic Atrophies, Hereditary - pathology | Polycystic Kidney, Autosomal Recessive - diagnosis | Polydactyly - etiology | Cerebellar Diseases - pathology | Cilia - ultrastructure | Eye Abnormalities - etiology | Hypogonadism - diagnosis | Leber Congenital Amaurosis - etiology | Hypogonadism - pathology | Eye Abnormalities - diagnosis | Cilia - pathology | Uterine Diseases - diagnosis | Cerebellar Diseases - diagnosis | Heart Defects, Congenital - pathology | Encephalocele - etiology | Usher Syndromes - diagnosis | Kidney Diseases, Cystic - pathology | Encephalocele - pathology | Uterine Diseases - etiology | Intellectual Disability - diagnosis | Kartagener Syndrome - pathology | Nasal Mucosa - cytology | Retina - abnormalities | Kartagener Syndrome - etiology | Ciliary Motility Disorders - diagnosis | Leber Congenital Amaurosis - diagnosis | Polycystic Kidney, Autosomal Recessive - etiology | Coloboma - etiology | Ellis-Van Creveld Syndrome - diagnosis | Polydactyly - pathology
Journal Article
Kidney International, ISSN 0085-2538, 04/2014, Volume 85, Issue 4, pp. 748 - 749
Making precise molecular genetic diagnoses in inherited kidney diseases is important. Gee describe families with end-stage renal disease secondary to a... 
EXOME CAPTURE | CILIOPATHIES | DISEASE | NEPHRONOPHTHISIS | UROLOGY & NEPHROLOGY | MUTATIONS | INHERITANCE | Kidney Diseases, Cystic - genetics | Kidney Diseases, Cystic - diagnosis | Male | Genetic Testing - methods | Humans
Journal Article
Journal of Biomedical Informatics, ISSN 1532-0464, 12/2019, Volume 100, p. 103308
Rare diseases are often hard and long to be diagnosed precisely, and most of them lack approved treatment. For some complex rare diseases, precision medicine... 
Ciliopathies | Deep phenotyping | Phenotypic similarity | Patient similarity | Rare disease
Journal Article
by Travaglini, Lorena and Brancati, Francesco and Silhavy, Jennifer and Iannicelli, Miriam and Nickerson, Elizabeth and Elkhartoufi, Nadia and Scott, Eric and Spencer, Emily and Gabriel, Stacey and Thomas, Sophie and Ben-Zeev, Bruria and Bertini, Enrico and Boltshauser, Eugen and Chaouch, Malika and Cilio, Maria Roberta and de Jong, Mirjam M and Kayserili, Hulya and Ogur, Gonul and Poretti, Anea and Signorini, Sabrina and Uziel, Graziella and Zaki, Maha S and Johnson, Colin and Attié-Bitach, Tania and Gleeson, Joseph G and Valente, Enza Maria and Ali Pacha, L and Zankl, A and Leventer, R and Grattan-Smith, P and Janecke, A and Koch, J and Freilinger, M and D'Hooghe, M and Sznajer, Y and Vilain, C and van Coster, R and Demerleir, L and Dias, K and Moco, C and Moreira, A and Ae Kim, C and Maegawa, G and Dakovic, I and Loncarevic, D and Mejaski-Bosnjak, V and Petkovic, D and Abdel-Salam, G. M. H and Abdel-Aleem, A and Marti, I and Pinard, J. M and Quijano-Roy, S and Sigaudy, S and de Lonlay, P and Romano, S and Verloes, A and Touraine, R and Koenig, M and Dollfus, H and Flori, E and Fradin, M and Lagier-Tourenne, C and Messer, J and Collignon, P and Penzien, J. M and Bussmann, C and Merkenschlager, A and Philippi, H and Kurlemann, G and Grundmann, K and Dacou-Voutetakis, C and Kitsiou Tzeli, S and Pons, R and Jerney, J and Halldorsson, S and Johannsdottir, J and Ludvigsson, P and Phadke, S. R and Girisha, K. M and Doshi, H and Udani, V and Kaul, M and Stuart, B and Magee, A and Spiegel, R and Shalev, S and Mandel, H and Lev, D and Michelson, M and Idit, M and Ben-Zeev, B and Gershoni-Baruch, R and Ficcadenti, A and Fischetto, R and Gentile, M and Della Monica, M and Pezzani, M and Graziano, C and Seri, M and Benedicenti, F and ... and Int JSRD Study Grp and International JSRD Study Group and the International JSRD Study Group
European journal of human genetics, ISSN 1018-4813, 2013, Volume 21, Issue 10, pp. 1074 - 1078
Journal Article