المؤلفون: Friedhelm Hildebrandt, Saskia F Heeringa, Franz Rüschendorf, Massimo Attanasio, Gudrun Nürnberg, Christian Becker, Dominik Seelow, Norbert Huebner, Gil Chernin, Christopher N Vlangos, Weibin Zhou, John F O'Toole, Bethan E Hoskins, Matthias T F Wolf, Bernward G Hinkes, Hassan Chaib, Shazia Ashraf, Dominik S Schoeb, Bugsu Ovunc, Susan J Allen, Virginia Vega-Warner, Eric Wise, Heather M Harville, Robert H Lyons, Joseph Washburn, James Macdonald, Peter Nürnberg, Edgar A Otto

المصدر: PLoS Genetics, Vol 5, Iss 1, p e1000353 (2009)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2621355?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/f7a3369cb3264d36aea1d584e119c0d7

المؤلفون: Pawaree Saisawat, Andreas Pasch, Hassan Chaib, Peter Nuernberg, Julia Hoefele, Bethan E. Hoskins, Edgar A. Otto, Hans W. Hacker, Friedrich K. Trefz, Friedhelm Hildebrandt, Shazia Ashraf, Gudrun Nuernberg

المصدر: Ashraf, Shazia; Hoskins, Bethan E; Chaib, Hassan; Hoefele, Julia; Pasch, Andreas; Saisawat, Pawaree; Trefz, Friedrich; Hacker, Hans W; Nuernberg, Gudrun; Nuernberg, Peter; Otto, Edgar A; Hildebrandt, Friedhelm (2010). Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24. Nephrology, dialysis, transplantation, 25(5), pp. 1496-501. Oxford: Oxford University Press 10.1093/ndt/gfp650 <http://dx.doi.org/10.1093/ndt/gfp650>

مصطلحات موضوعية: Male, Locus (genetics), Single-nucleotide polymorphism, Consanguinity, Biology, Kidney, Polymorphism, Single Nucleotide, Humans, SNP, Child, Urinary Tract, Gene, Genetics, Transplantation, Haplotype, Infant, Newborn, Chromosome Mapping, Infant, Chromosome, Pedigree, Haplotypes, Nephrology, Child, Preschool, Clinical Nephrology, Female, Lod Score, Chromosomes, Human, Pair 8, SNP array

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8a8b3d5c16e96864205fae133877b6b
https://doi.org/10.1093/ndt/gfp650

المؤلفون: Matthias T.F. Wolf, Bethan E. Hoskins, Bernd Hoppe, Velibor Tasic, Bodo B. Beck, Edgar A. Otto, Friedhelm Hildebrandt

المصدر: Pediatric Nephrology. 24:55-60

مصطلحات موضوعية: Adult, Male, Urologic Diseases, Tamm–Horsfall protein, Adolescent, DNA Mutational Analysis, Single-nucleotide polymorphism, Medullary cystic kidney disease, Article, Young Adult, Exon, Mucoproteins, Uromodulin, medicine, Humans, Genetic Predisposition to Disease, Child, Urinary Tract, Genetics, biology, Infant, HNF1B, medicine.disease, Molecular biology, Phenotype, Nephrology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Mutation testing, Female, Heteroduplex

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20d1717ac79abcebef15a551e172e7ec
https://doi.org/10.1007/s00467-008-1016-6

المؤلفون: Bernward Hinkes, Christopher N. Vlangos, Jinhong Liu, Friedhelm Hildebrandt, Gil Chernin, Rasheed Gbadegesin, Bethan E. Hoskins, Saskia F. Heeringa, Fatih Ozaltin

المساهمون: Çocuk Sağlığı ve Hastalıkları

المصدر: Nephrology Dialysis Transplantation. 23:3527-3533

مصطلحات موضوعية: Male, medicine.medical_specialty, Nephrotic Syndrome, Genotype, Nonsense mutation, Mutation, Missense, urologic and male genital diseases, medicine.disease_cause, Gastroenterology, Cohort Studies, Internal medicine, medicine, Humans, Missense mutation, Congenital nephrotic syndrome, Exome sequencing, Genetics, Transplantation, Mutation, business.industry, Infant, Newborn, Infant, Membrane Proteins, Glomerulonephritis, Urology & Nephrology, medicine.disease, Mutagenesis, Insertional, Phenotype, Codon, Nonsense, Nephrology, Clinical Nephrology, Female, business, Nephrotic syndrome, Gene Deletion

وصف الملف: text/plain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb02e8c7e0bae0a16a656c095ad1d697
https://doi.org/10.1093/ndt/gfn271

المؤلفون: Shazia Ashraf, Meera Goyal, Bethan E. Hoskins, Friedhelm Hildebrandt, Hassan Chaib, Roger C. Wiggins

المصدر: American Journal of Physiology-Renal Physiology. 294:F93-F99

مصطلحات موضوعية: Proto-Oncogene Proteins B-raf, Nephrotic Syndrome, Physiology, Urinary system, Kidney Glomerulus, Biology, Cell Line, Phosphoinositide Phospholipase C, Edema, Chlorocebus aethiops, medicine, Animals, Humans, Protein Interaction Domains and Motifs, Hypoalbuminemia, Caenorhabditis elegans, Kidney, Proteinuria, Podocytes, Glomerulonephritis, medicine.disease, Rats, medicine.anatomical_structure, COS Cells, Mutation, Immunology, Cancer research, medicine.symptom, Nephrotic syndrome, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d754d9f12cdb8817fcfcae445dbb20dd
https://doi.org/10.1152/ajprenal.00345.2007

المؤلفون: Tom D. Bunney, Grant G. Kelley, Puneet Garg, Christian Becker, Alper Soylu, Dontscho Kerjaschki, Thomas Gudermann, Alexander Dietrich, Roxana Cleper, Jinhong Liu, Alexey N. Tsygin, Lina Basel-Vanagaite, Andreas Kispert, Caroline S. Sorli, Rannar Airik, Martin Pohl, Friedhelm Hildebrandt, Bettina E. Mucha, Matilda Katan, Martin Griebel, Alan V. Smrcka, Meera Goyal, Aysin Bakkaloglu, Katrin Hasselbacher, Bernward Hinkes, Rasheed Gbadegesin, John F. O'Toole, Rüdiger Waldherr, Massimo Attanasio, Roger C. Wiggins, Sudha Mudumana, Bryan L. Wharram, Christopher N. Vlangos, Edgar A. Otto, Asher D. Schachter, Lawrence B. Holzman, Fatih Ozaltin, Bethan E. Hoskins, Gudrun Nürnberg, Iain A. Drummond, Hassan Chaib, Dominik Seelow, Peter Nürnberg, Rakesh Verma, Shazia Ashraf, Dominik N. Müller, Hans Christian Hennies

المصدر: Nature Genetics. 38:1397-1405

مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Nephrotic Syndrome, Positional cloning, Mutation, Missense, Genes, Recessive, Biology, Kidney, Phosphoinositide Phospholipase C, Focal segmental glomerulosclerosis, Internal medicine, Edema, Genetics, medicine, Animals, Humans, Missense mutation, Cloning, Molecular, Child, Zebrafish, Sequence Deletion, Models, Genetic, Homozygote, Infant, Glomerulonephritis, medicine.disease, Rats, Disease Models, Animal, Endocrinology, medicine.anatomical_structure, Child, Preschool, Type C Phospholipases, Gene Targeting, Mutation, Female, medicine.symptom, Nephrotic syndrome, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e48bc25306eb10553696ecbab090d6f
https://doi.org/10.1038/ng1918

المؤلفون: Alysa Lesemann, Randall R. Reed, Erica R. Eichers, Jose L. Badano, Bethan E. Hoskins, Carmen C. Leitch, James R. Lupski, Heather Kulaga, Philip L. Beales, Nicholas Katsanis

المصدر: Nature Genetics. 36:994-998

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, BBS1, Anosmia, Biology, Microtubules, Mice, Olfaction Disorders, Nephronophthisis, Internal medicine, Genetics, medicine, Polycystic kidney disease, Animals, Humans, Basal body, Cilia, Bardet-Biedl Syndrome, Cilium, Proteins, Kartagener Syndrome, medicine.disease, Cell biology, Dendritic microtubule, Nasal Mucosa, Endocrinology, Mutation, Mutagenesis, Site-Directed, medicine.symptom, Microtubule-Associated Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ced75e2d6f0d6cfd18e5d500a7721ca6
https://doi.org/10.1038/ng1418

المؤلفون: Philip L. Beales, Nicholas Katsanis, Oliver E. Blacque, Richard A. Lewis, Alison Ross, Stephen J. Ansley, Bethan E. Hoskins, John C. Cavender, Michel R. Leroux, Tanya M. Teslovich, Jose L. Badano, Erica R. Eichers, Allan K. Mah, Robert C. Johnsen, Jun Chul Kim, Carmen C. Leitch, Josephine Hill

المصدر: Nature. 425:628-633

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, BBSome, BBS1, Molecular Sequence Data, BBS5, BBS10, Biology, Cell Line, Bardet–Biedl syndrome, Ciliogenesis, medicine, Animals, Humans, Basal body, Amino Acid Sequence, Cilia, RNA, Messenger, Caenorhabditis elegans, Bardet-Biedl Syndrome, Alleles, Centrosome, Neurons, Genetics, Multidisciplinary, Base Sequence, Gene Expression Profiling, Cilium, Homozygote, Proteins, medicine.disease, Pedigree, Cytoskeletal Proteins, Mutation, Female, Lod Score, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1db1b9e9a0413bdfdc6e7ea2a8b7dce6
https://doi.org/10.1038/nature02030

المؤلفون: Stephen J. Ansley, Jose L. Badano, Oliver E. Blacque, Josephine Hill, Bethan E. Hoskins, Carmen C. Leitch, Jun Chul Kim, Alison J. Ross, Erica R. Eichers, Tanya M. Teslovich, Allan K. Mah

المصدر: Nature, Nature. 425(6958):628-633

الإتاحة: https://ideas.repec.org/a/nat/nature/v425y2003i6958d10.1038_nature02030.html

المؤلفون: Friedhelm Hildebrandt, Carl H. Cramer, Martin Pohl, Elijah O. Kehinde, Bethan E. Hoskins, Radovan Bogdanovic, Shazia Ashraf, Velibor Tasic, Julia Hoefele

المصدر: Nephrology Dialysis Transplantation. 23:777-779

مصطلحات موضوعية: Adult, Male, Adolescent, Urinary system, Mutation, Missense, Protein tyrosine phosphatase, Humans, Medicine, Missense mutation, Nuclear protein, Child, Urinary Tract, Aged, Hepatocyte Nuclear Factor 1-beta, Transplantation, business.industry, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Middle Aged, Nephrology, Child, Preschool, Hepatocyte Nuclear Factor 1-Beta, Cancer research, Female, Protein Tyrosine Phosphatases, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dfb7f7b7f70856d59eeb5c3f6d6c9e6
https://doi.org/10.1093/ndt/gfm685