المؤلفون: Abitbol, Marie, Jagannathan, Vidhya, Lopez, Marie, Courtin, Ambre, Dufaure de Citres, Caroline, Gache, Vincent, Leeb, Tosso

المساهمون: VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Universität Bern = University of Bern = Université de Berne (UNIBE), École nationale vétérinaire d'Alfort (ENVA), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Société Centrale Canine, Partenaires INRAE, Antagene France, Collaboration internationale

المصدر: ISSN: 0268-9146.

مصطلحات موضوعية: Canis lupus familiaris, DFNB12, Usher syndrome, cadherin, canine, hearing loss, [SDV.BA.MVSA]Life Sciences [q-bio]/Animal biology/Veterinary medicine and animal Health

Relation: info:eu-repo/semantics/altIdentifier/pmid/36308003; PUBMED: 36308003; WOS: 000875490300001

الاتاحة: https://enva.hal.science/hal-03854349
https://doi.org/10.1111/age.13273

المؤلفون: Khushnooda Ramzan, Nouf S. Al-Numair, Sarah Al-Ageel, Lina Elbaik, Nadia Sakati, Selwa A. F. Al-Hazzaa, Mohammed Al-Owain, Faiqa Imtiaz

المصدر: Genes; Volume 11; Issue 12; Pages: 1474

مصطلحات موضوعية: nonsyndromic hearing loss, DFNB12, CDH23, whole exome sequencing, missense variants, phenotypic variability, Saudi Arabia

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes11121474

الاتاحة: https://doi.org/10.3390/genes11121474

المؤلفون: Marie Abitbol, Vidhya Jagannathan, Marie Lopez, Ambre Courtin, Caroline Dufaure de Citres, Vincent Gache, Tosso Leeb

المساهمون: VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Bern, École nationale vétérinaire - Alfort (ENVA), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Société Centrale Canine, Partenaires INRAE, Antagene France

المصدر: Abitbol, Marie; Jagannathan, Vidhya; Lopez, Marie; Courtin, Ambre; Dufaure de Citres, Caroline; Gache, Vincent; Leeb, Tosso (2023). A CDH23 missense variant in Beauceron dogs with non-syndromic deafness. Animal genetics, 54(1), pp. 73-77. Wiley 10.1111/age.13273 <http://dx.doi.org/10.1111/age.13273>
Animal Genetics
Animal Genetics, Wiley-Blackwell, 2022, ⟨10.1111/age.13273⟩

مصطلحات موضوعية: Mammals, [SDV.BA.MVSA]Life Sciences [q-bio]/Animal biology/Veterinary medicine and animal Health, Canis lupus familiaris, 630 Agriculture, Hearing Loss, Sensorineural, Mutation, Missense, canine, General Medicine, Deafness, 590 Tiere (Zoologie), Dogs, cadherin, Mutation, Genetics, Animals, 590 Animals (Zoology), Animal Science and Zoology, 630 Landwirtschaft, Dog Diseases, Usher syndrome, Alleles, DFNB12, hearing loss

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b08317b24555c4ad2eab1efe96ef90d

المؤلفون: Gorski, Mathias, Tin, Adrienne, Garnaas, Maija, McMahon, Gearoid M., Chu, Audrey Y., Tayo, Bamidele O., Pattaro, Cristian, Teumer, Alexander, Chasman, Daniel I., Chalmers, John, Hamet, Pavel, Tremblay, Johanne, Woodward, Marc, Aspelund, Thor, Eiriksdottir, Gudny, Gudnason, Vilmundur, Harris, Tamara B., Launer, Lenore J., Smith, Albert V., Mitchell, Braxton D., O'Connell, Jeffrey R., Shuldiner, Alan R., Coresh, Josef, Li, Man, Freudenberger, Paul, Hofer, Edith, Schmidt, Helena, Schmidt, Reinhold, Holliday, Elizabeth G., Mitchell, Paul, Wang, Jie Jin, de Boer, Ian H., Li, Guo, Siscovick, David S., Kutalik, Zoltan, Corre, Tanguy, Vollenweider, Peter, Waeber, Gerard, Gupta, Jayanta, Kanetsky, Peter A., Hwang, Shih-Jen, Olden, Matthias, Yang, Qiong, de Andrade, Mariza, Atkinson, Elizabeth J., Kardia, Sharon L. R., Turner, Stephen T., Stafford, Jeanette M., Ding, Jingzhong, Liu, Yongmei, Barlassina, Cristina, Cusi, Daniele, Salvi, Erika, Staessen, Jan A., Ridker, Paul M., Grallert, Harald, Meisinger, Christa, Mueller-Nurasyid, Martina, Kraemer, Bernhard K., Kramer, Holly, Rosas, Sylvia E., Nolte, Ilja M., Penninx, Brenda W., Snieder, Harold, Del Greco, M. Fabiola, Franke, Andre, Noethlings, Ute, Lieb, Wolfgang, Bakker, Stephan J. L., Gansevoort, Ron T., van der Harst, Pim, Dehghan, Abbas, Franco, Oscar H., Hofman, Albert, Rivadeneira, Fernando, Sedaghat, Sanaz, Uitterlinden, Andre G., Coassin, Stefan, Haun, Margot, Kollerits, Barbara, Kronenberg, Florian, Paulweber, Bernhard, Aumann, Nicole, Endlich, Karlhans, Pietzner, Mike, Voelker, Uwe, Rettig, Rainer, Chouraki, Vincent, Helmer, Catherine, Lambert, Jean-Charles, Metzger, Marie, Stengel, Benedicte, Lehtimaki, Terho, Lyytikainen, Leo-Pekka, Raitakari, Olli, Johnson, Andrew, Parsa, Afshin, Bochud, Murielle, Heid, Iris M., Goessling, Wolfram, Kottgen, Anna, Kao, W. H. Linda, Fox, Caroline S., Boeger, Carsten A.

المصدر: Gorski , M , Tin , A , Garnaas , M , McMahon , G M , Chu , A Y , Tayo , B O , Pattaro , C , Teumer , A , Chasman , D I , Chalmers , J , Hamet , P , Tremblay , J , Woodward , M , Aspelund , T , Eiriksdottir , G , Gudnason , V , Harris , T B , Launer , L J , Smith , A V , Mitchell , B D , O'Connell , J R , Shuldiner , A R , Coresh ....

مصطلحات موضوعية: chronic kidney disease, genome-wide association study, kidney function decline, kidney development, population genetics, single nucleotide polymorphism, zebrafish, GLOMERULAR-FILTRATION-RATE, STAGE RENAL-DISEASE, SYNDROME TYPE 1D, HYPERTENSIVE NEPHROSCLEROSIS, DIABETIC-NEPHROPATHY, DEAFNESS DFNB12, MORTALITY RISK, MOUSE MODEL, GENE, PROGRESSION

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/29913518-3235-4ecc-a1e9-47efad9118fb
https://research.rug.nl/en/publications/29913518-3235-4ecc-a1e9-47efad9118fb
https://doi.org/10.1038/ki.2014.361
https://pure.rug.nl/ws/files/109690419/Genome_wide_association_study_of_kidney_function_decline_in_individuals.pdf

المؤلفون: Faiqa Imtiaz, Nadia Sakati, Lina Elbaik, Nouf S. Al-Numair, Khushnooda Ramzan, Mohammed Al-Owain, Selwa A.F. Al-Hazzaa, Sarah Al-Ageel

المصدر: Genes
Genes, Vol 11, Iss 1474, p 1474 (2020)
Volume 11
Issue 12

مصطلحات موضوعية: 0301 basic medicine, Male, Usher syndrome, 030105 genetics & heredity, Deafness, Compound heterozygosity, whole exome sequencing, CDH23, Gene Frequency, Genetics (clinical), Exome sequencing, Genetics, Disease gene identification, Cadherins, Pedigree, missense variants, Allelic heterogeneity, Female, medicine.symptom, Usher Syndromes, Retinitis Pigmentosa, Adult, lcsh:QH426-470, Adolescent, Genotype, Hearing loss, Saudi Arabia, Mutation, Missense, Cadherin Related Proteins, Biology, nonsyndromic hearing loss, Article, 03 medical and health sciences, Exome Sequencing, medicine, otorhinolaryngologic diseases, Humans, Family, DFNB12, Allele, Alleles, medicine.disease, eye diseases, lcsh:Genetics, 030104 developmental biology, Mutation, phenotypic variability

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0d447ddd5ac80a39a27d2a4ec1a9ab4
http://europepmc.org/articles/PMC7764456

المؤلفون: Mizutari, Kunio, Mutai, Hideki, Namba, Kazunori, Miyanaga, Yuko, Nakano, Atsuko, Arimoto, Yukiko, Masuda, Sawako, Morimoto, Noriko, Sakamoto, Hirokazu, Kaga, Kimitaka, Matsunaga, Tatsuo

مصطلحات موضوعية: CDH23, Congenital hearing loss, DFNB12, Gene mutation, Phenotype

Relation: http://www.ojrd.com/content/10/1/60

الاتاحة: http://www.ojrd.com/content/10/1/60

المؤلفون: Kimitaka Kaga, Yuko Miyanaga, Kunio Mizutari, Sawako Masuda, Yukiko Arimoto, Hideki Mutai, Atsuko Nakano, Noriko Morimoto, Tatsuo Matsunaga, Hirokazu Sakamoto, Kazunori Namba

المصدر: Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Adult, Male, Adolescent, Hearing loss, Hearing Loss, Sensorineural, Usher syndrome, DNA Mutational Analysis, Cadherin Related Proteins, Gene mutation, Biology, Compound heterozygosity, medicine.disease_cause, Congenital hearing loss, Connexins, Young Adult, Prevalence, otorhinolaryngologic diseases, medicine, Humans, Missense mutation, Genetics(clinical), Pharmacology (medical), Child, Hearing Loss, Genetics (clinical), Medicine(all), Genetics, CDH23, Mutation, Research, Infant, Newborn, Infant, General Medicine, Cadherins, medicine.disease, eye diseases, Connexin 26, Phenotype, Hearing level, Child, Preschool, Female, medicine.symptom, DFNB12

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b357fb77e0f7ec0bdee5f0e0c78e15d2
https://doi.org/10.1186/s13023-015-0276-z

المؤلفون: von Brederlow, B., Bolz, H., Janecke, A., La O Cabrera, A., Rudolph, G., Lorenz, B., Schwinger, E., Gal, A.

المصدر: Hum. Mutat. 19, 268-273 (2002)

مصطلحات موضوعية: Usher syndrome, USH1D, cadherin 23, CDH23, DFNB12, exon trapping, splicing, deafness, retinal disease, retinitis pigmentosa, RP

Relation: info:eu-repo/semantics/altIdentifier/pmid/11857743; info:eu-repo/semantics/altIdentifier/wos/undefined; info:eu-repo/semantics/altIdentifier/isbn/1059-7794; info:eu-repo/semantics/altIdentifier/pi; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=9528; urn:isbn:1059-7794; urn:issn:1059-7794; urn:issn:1098-1004

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=9528
https://doi.org/10.1002/humu.10049