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    Tytuł:
    Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.
    Autorzy:
    Walczak-Sztulpa J; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-608, Poznan, Poland. .
    Posmyk R; Department of Perinatology, Medical University of Bialystok, Bialystok, Poland.
    Bukowska-Olech EM; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-608, Poznan, Poland.
    Wawrocka A; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-608, Poznan, Poland.
    Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-608, Poznan, Poland.
    Oud MM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands.
    Schmidts M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Center for Pediatrics and Adolescent Medicine, Freiburg University Hospital, Freiburg University Faculty of Medicine, Freiburg, Germany.
    Arts HH; Department of Pathology and Laboratory Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.; IWK Health Centre, Clinical Genomics Laboratory, Halifax, Nova Scotia, Canada.
    Latos-Bielenska A; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-608, Poznan, Poland.
    Wasilewska A; Department of Pediatrics and Nephrology, Medical University of Bialystok, Bialystok, Poland.
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Feb 01; Vol. 15 (1), pp. 36. Date of Electronic Publication: 2020 Feb 01.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Craniosynostoses*
    Ectodermal Dysplasia*/genetics
    Kidney Failure, Chronic*/genetics
    Bone and Bones/abnormalities ; Carrier Proteins/genetics ; Child, Preschool ; Humans ; Male ; Mutation/genetics ; Poland
    SCR Disease Name:
    Cranioectodermal Dysplasia
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
    Autorzy:
    Stokman MF; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    van der Zwaag B; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    van de Kar NCAJ; Department of Pediatric Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands.
    van Haelst MM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
    van Eerde AM; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    van der Heijden JW; Department of Nephrology, VU University Medical Center, Amsterdam, The Netherlands.
    Kroes HY; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    Ippel E; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    Schulp AJA; Department of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
    van Gassen KL; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    van Rooij IALM; Radboud Institute for Health Sciences, Department for Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands.
    Giles RH; Department of Nephrology and Hypertension, University Medical Center Utrecht, Regenerative Medicine Center, University of Utrecht, Utrecht, The Netherlands.
    Beales PL; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
    Roepman R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
    Arts HH; Department of Pathology and Molecular Medicine, Hamilton Health Sciences, McMaster University, West Hamilton, Canada.
    Bongers EMHF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
    Renkema KY; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    Knoers NVAM; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. .
    van Reeuwijk J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
    Lilien MR; Department of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
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    Źródło:
    Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2018 Oct; Vol. 33 (10), pp. 1701-1712. Date of Electronic Publication: 2018 Jul 05.
    Typ publikacji:
    Journal Article; Multicenter Study; Observational Study; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Genetic Counseling*
    Genetic Testing*
    Ciliopathies/*diagnosis
    Kidney Diseases, Cystic/*congenital
    Kidney Failure, Chronic/*prevention & control
    Adaptor Proteins, Signal Transducing/genetics ; Adolescent ; Adult ; Age of Onset ; Biopsy ; Child ; Ciliopathies/complications ; Ciliopathies/genetics ; Ciliopathies/pathology ; Cytoskeletal Proteins ; Delayed Diagnosis/prevention & control ; Female ; Humans ; Kidney/diagnostic imaging ; Kidney/pathology ; Kidney Diseases, Cystic/complications ; Kidney Diseases, Cystic/diagnosis ; Kidney Diseases, Cystic/genetics ; Kidney Diseases, Cystic/pathology ; Kidney Failure, Chronic/etiology ; Male ; Membrane Proteins/genetics ; Middle Aged ; Netherlands ; Registries/statistics & numerical data ; Time Factors ; Ultrasonography ; Exome Sequencing ; Young Adult
    SCR Disease Name:
    Nephronophthisis, familial juvenile
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
    Autorzy:
    Maria M; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
    Lamers IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, the Netherlands.
    Schmidts M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, the Netherlands.; Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, UK.; Center for Pediatrics and Adolescent Medicine, Pediatric Genetics Division, University Hospital Freiburg, Germany.
    Ajmal M; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.
    Jaffar S; Shifa International Hospital, Islamabad, Pakistan.
    Ullah E; School of Applied Sciences, Faculty of Health and Environmental Sciences, Auckland University of Technology, Auckland, New Zealand.; Auckland City Hospital, Auckland District Health Board, Auckland, New Zealand.
    Mustafa B; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.
    Ahmad S; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.
    Nazmutdinova K; Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, UK.
    Hoskins B; North East Thames Regional Genetics Service, Hospital for Children, London, UK.
    van Wijk E; Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands.; Donders Center for Neurosciences, Radboud University Nijmegen, the Netherlands.
    Koster-Kamphuis L; Department of Pediatric Nephrology, Radboud University Medical Center, Nijmegen, the Netherlands.
    Khan MI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
    Beales PL; Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, UK.; Centre for Translational Omics-GOSgene, Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
    Cremers FP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Center for Neurosciences, Radboud University Nijmegen, the Netherlands.
    Roepman R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, the Netherlands.
    Azam M; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.
    Arts HH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, the Netherlands.; Department of Biochemistry, University of Western Ontario, London, Ontario, Canada.
    Qamar R; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.; Department of Biochemistry, Al-Nafees Medical College &Hospital, Isra University, Islamabad, Pakistan.; Pakistan Academy of Sciences, Constitution Avenue, Islamabad, Pakistan.
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    Źródło:
    Scientific reports [Sci Rep] 2016 Oct 06; Vol. 6, pp. 34764. Date of Electronic Publication: 2016 Oct 06.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    ADP-Ribosylation Factors/*genetics
    Bardet-Biedl Syndrome/*genetics
    Genetic Association Studies/*methods
    Microtubule Proteins/*genetics
    Neoplasm Proteins/*genetics
    Proteins/*genetics
    Adolescent ; Adult ; Cytoskeletal Proteins ; DNA Mutational Analysis/methods ; Female ; Genetic Predisposition to Disease ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Male ; Middle Aged ; Pakistan ; Pedigree ; Phosphate-Binding Proteins ; Exome Sequencing/methods ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
    Autorzy:
    Oud MM; Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.
    Bonnard C; Laboratory of Human Embryology & Genetics, Institute of Medical Biology, ASTAR, Singapore, Singapore.
    Mans DA; Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.
    Altunoglu U; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
    Tohari S; Institute of Molecular and Cell Biology, ASTAR, Singapore, Singapore.
    Ng AYJ; Institute of Molecular and Cell Biology, ASTAR, Singapore, Singapore.
    Eskin A; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, USA.
    Lee H; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, USA.
    Rupar CA; Department of Biochemistry, University of Western Ontario, Room 4212A, 1151 Richmond Street N, N6A 5B7 London, ON Canada.; Medical Genetics Program, London Health Sciences Centre, London, ON Canada.; Children's Health Research Institute, London, ON Canada.
    de Wagenaar NP; Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.
    Wu KM; Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.
    Lahiry P; Department of Paediatrics, The Hospital for Sick Children, Toronto, ON Canada.
    Pazour GJ; Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA USA.
    Nelson SF; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, USA.
    Hegele RA; Department of Biochemistry, University of Western Ontario, Room 4212A, 1151 Richmond Street N, N6A 5B7 London, ON Canada.; Robarts Research Institute, London, ON Canada.
    Roepman R; Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.
    Kayserili H; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.; Medical Genetics Department, Koç University School of Medicine, Istanbul, Turkey.
    Venkatesh B; Institute of Molecular and Cell Biology, ASTAR, Singapore, Singapore.
    Siu VM; Department of Biochemistry, University of Western Ontario, Room 4212A, 1151 Richmond Street N, N6A 5B7 London, ON Canada.; Medical Genetics Program, London Health Sciences Centre, London, ON Canada.; Children's Health Research Institute, London, ON Canada.
    Reversade B; Laboratory of Human Embryology & Genetics, Institute of Medical Biology, ASTAR, Singapore, Singapore.
    Arts HH; Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.; Department of Biochemistry, University of Western Ontario, Room 4212A, 1151 Richmond Street N, N6A 5B7 London, ON Canada.; Children's Health Research Institute, London, ON Canada.; Robarts Research Institute, London, ON Canada.
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    Źródło:
    Cilia [Cilia] 2016 Apr 11; Vol. 5, pp. 8. Date of Electronic Publication: 2016 Apr 11 (Print Publication: 2016).
    Typ publikacji:
    Journal Article
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.
    Autorzy:
    Bachmann-Gagescu R; Institute for Molecular Life Sciences, University of Zurich, Zurich, Switzerland; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
    Dona M; Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands.
    Hetterschijt L; Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands.
    Tonnaer E; Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands.
    Peters T; Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands.
    de Vrieze E; Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands.
    Mans DA; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
    van Beersum SE; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
    Phelps IG; Department of Pediatrics, University of Washington, Seattle, Washington, United States of America.
    Arts HH; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Biochemistry, University of Western Ontario, London, Ontario, Canada.
    Keunen JE; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.
    Ueffing M; Division of Experimental Ophthalmology and Medical Proteome Center, Centre for Ophthalmology, Eberhard Karls University Tuebingen, Germany.
    Roepman R; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
    Boldt K; Division of Experimental Ophthalmology and Medical Proteome Center, Centre for Ophthalmology, Eberhard Karls University Tuebingen, Germany.
    Doherty D; Department of Pediatrics, University of Washington, Seattle, Washington, United States of America.
    Moens CB; Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America.
    Neuhauss SC; Institute for Molecular Life Sciences, University of Zurich, Zurich, Switzerland.
    Kremer H; Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
    van Wijk E; Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands.
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    Źródło:
    PLoS genetics [PLoS Genet] 2015 Oct 20; Vol. 11 (10), pp. e1005575. Date of Electronic Publication: 2015 Oct 20 (Print Publication: 2015).
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Cerebellum/*abnormalities
    Ciliary Motility Disorders/*genetics
    Encephalocele/*genetics
    Microtubule-Associated Proteins/*metabolism
    Mixed Function Oxygenases/*genetics
    Nuclear Proteins/*metabolism
    Polycystic Kidney Diseases/*genetics
    Proteins/*genetics
    Retina/*abnormalities
    rab GTP-Binding Proteins/*genetics
    Abnormalities, Multiple/genetics ; Abnormalities, Multiple/metabolism ; Abnormalities, Multiple/pathology ; Animals ; Cerebellum/metabolism ; Cerebellum/pathology ; Cilia/genetics ; Cilia/metabolism ; Cilia/pathology ; Ciliary Motility Disorders/metabolism ; Ciliary Motility Disorders/pathology ; Cytoskeletal Proteins ; Encephalocele/metabolism ; Encephalocele/pathology ; Eye Abnormalities/genetics ; Eye Abnormalities/metabolism ; Eye Abnormalities/pathology ; Gene Knockdown Techniques ; Humans ; Kidney Diseases, Cystic/genetics ; Kidney Diseases, Cystic/metabolism ; Kidney Diseases, Cystic/pathology ; Microtubule-Associated Proteins/genetics ; Mixed Function Oxygenases/metabolism ; Mutation ; Nuclear Proteins/genetics ; Polycystic Kidney Diseases/metabolism ; Polycystic Kidney Diseases/pathology ; Protein Transport/genetics ; Proteins/metabolism ; Retina/metabolism ; Retina/pathology ; Retinitis Pigmentosa ; Signal Transduction ; Zebrafish ; rab GTP-Binding Proteins/metabolism
    SCR Disease Name:
    Agenesis of Cerebellar Vermis; Meckel syndrome type 1
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Non-invasive sources of cells with primary cilia from pediatric and adult patients.
    Autorzy:
    Ajzenberg H; Department of Nephrology and Hypertension, University Medical Center Utrecht, Heidelberglaan 100, 3584CX Utrecht, Netherlands.
    Slaats GG; Department of Nephrology and Hypertension, University Medical Center Utrecht, Heidelberglaan 100, 3584CX Utrecht, Netherlands.
    Stokman MF; Department of Medical Genetics, University Medical Center Utrecht, Lundlaan 6, 3584EA Utrecht, Netherlands.
    Arts HH; Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein zuid 10, 6525GA Nijmegen, Netherlands.; Department of Biochemistry, University of Western Ontario, Medical Sciences Building Rm. 342, N6A 5C1 London Ontario, Canada.
    Logister I; Department of Nephrology and Hypertension, University Medical Center Utrecht, Heidelberglaan 100, 3584CX Utrecht, Netherlands.
    Kroes HY; Department of Medical Genetics, University Medical Center Utrecht, Lundlaan 6, 3584EA Utrecht, Netherlands.
    Renkema KY; Department of Medical Genetics, University Medical Center Utrecht, Lundlaan 6, 3584EA Utrecht, Netherlands.
    van Haelst MM; Department of Medical Genetics, University Medical Center Utrecht, Lundlaan 6, 3584EA Utrecht, Netherlands.
    Terhal PA; Department of Medical Genetics, University Medical Center Utrecht, Lundlaan 6, 3584EA Utrecht, Netherlands.
    van Rooij IA; Department of Health Evidence, Radboud University Medical Center, Geert Grooteplein zuid 10, 6525GA Nijmegen, Netherlands.
    Keijzer-Veen MG; Department of Pediatric Nephrology, University Medical Center Utrecht, Lundlaan 6, 3584EA Utrecht, Netherlands.
    Knoers NV; Department of Medical Genetics, University Medical Center Utrecht, Lundlaan 6, 3584EA Utrecht, Netherlands.
    Lilien MR; Department of Pediatric Nephrology, University Medical Center Utrecht, Lundlaan 6, 3584EA Utrecht, Netherlands.
    Jewett MA; Department of Surgery (Urology), University of Toronto, 610 University Avenue, M5G 2M9 Toronto, Canada.
    Giles RH; Department of Nephrology and Hypertension, University Medical Center Utrecht, Heidelberglaan 100, 3584CX Utrecht, Netherlands.
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    Źródło:
    Cilia [Cilia] 2015 Jun 01; Vol. 4, pp. 8. Date of Electronic Publication: 2015 Jun 01 (Print Publication: 2015).
    Typ publikacji:
    Journal Article
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Current insights into renal ciliopathies: what can genetics teach us?
    Autorzy:
    Arts HH; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands. h.arts@gen.umcn.nl
    Knoers NV
    Pokaż więcej
    Źródło:
    Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2013 Jun; Vol. 28 (6), pp. 863-74. Date of Electronic Publication: 2012 Jul 25.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't; Review
    MeSH Terms:
    Cilia/*physiology
    Kidney Diseases, Cystic/*genetics
    Genetic Association Studies ; Humans ; Kidney Diseases, Cystic/congenital ; Kidney Diseases, Cystic/therapy ; Mutation ; Polymorphism, Single Nucleotide ; Precision Medicine ; Renal Insufficiency/etiology
    SCR Disease Name:
    Nephronophthisis, familial juvenile
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
    Autorzy:
    den Hollander AI; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. />Koenekoop RK
    Mohamed MD
    Arts HH
    Boldt K
    Towns KV
    Sedmak T
    Beer M
    Nagel-Wolfrum K
    McKibbin M
    Dharmaraj S
    Lopez I
    Ivings L
    Williams GA
    Springell K
    Woods CG
    Jafri H
    Rashid Y
    Strom TM
    van der Zwaag B
    Gosens I
    Kersten FF
    van Wijk E
    Veltman JA
    Zonneveld MN
    van Beersum SE
    Maumenee IH
    Wolfrum U
    Cheetham ME
    Ueffing M
    Cremers FP
    Inglehearn CF
    Roepman R
    Pokaż więcej
    Źródło:
    Nature genetics [Nat Genet] 2007 Jul; Vol. 39 (7), pp. 889-95. Date of Electronic Publication: 2007 Jun 03.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Eye Proteins/*genetics
    Microtubule-Associated Proteins/*genetics
    Optic Atrophy, Hereditary, Leber/*genetics
    Animals ; COS Cells ; Cell Line ; Chlorocebus aethiops ; Cilia/genetics ; Codon, Nonsense ; Eye Proteins/metabolism ; Female ; Frameshift Mutation ; Humans ; Male ; Mice ; Mice, Inbred C57BL ; Microtubule-Associated Proteins/metabolism ; Molecular Sequence Data ; Pedigree ; Rats ; Rats, Wistar
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
    Autorzy:
    Arts HH; Department of Human Genetics, Radboud University Nijmegen Medical Centre and Nijmegen Centre for Molecular Life Sciences, 6500 HB Nijmegen, The Netherlands.
    Doherty D
    van Beersum SE
    Parisi MA
    Letteboer SJ
    Gorden NT
    Peters TA
    Märker T
    Voesenek K
    Kartono A
    Ozyurek H
    Farin FM
    Kroes HY
    Wolfrum U
    Brunner HG
    Cremers FP
    Glass IA
    Knoers NV
    Roepman R
    Pokaż więcej
    Źródło:
    Nature genetics [Nat Genet] 2007 Jul; Vol. 39 (7), pp. 882-8. Date of Electronic Publication: 2007 Jun 10.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Adaptor Proteins, Signal Transducing/*genetics
    Adaptor Proteins, Signal Transducing/*metabolism
    Cerebellar Diseases/*genetics
    Cilia/*genetics
    Ciliary Motility Disorders/*genetics
    Eye Diseases/*genetics
    Kidney Diseases/*genetics
    Proteins/*genetics
    Proteins/*metabolism
    Adult ; Animals ; Cell Line ; Cytoskeletal Proteins ; Female ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Rats ; Syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-9 z 9

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