المؤلفون: Dimke, Henrik, Griveau, Camille, Ling, Wung-Man Evelyne, Brideau, Gaelle, Cheval, Lydie, Muthan, Pravina, Müller, Dominik, Al-Shebel, Amr, Houillier, Pascal, Prot-Bertoye, Caroline

المصدر: Dimke , H , Griveau , C , Ling , W-M E , Brideau , G , Cheval , L , Muthan , P , Müller , D , Al-Shebel , A , Houillier , P & Prot-Bertoye , C 2023 , ' Claudin-19 localizes to the thick ascending limb where its expression is required for junctional claudin-16 localization ' , Annals of the New York Academy of Sciences , vol. 1526 , no. 1 , pp. 126-137 . https://doi.org/10.1111/nyas.15014Test

مصطلحات موضوعية: Animals, Mice, Calcium/metabolism, Claudins/genetics, Magnesium/metabolism, Nephrocalcinosis/genetics

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/d80216df-e2c5-4020-a7da-b5f351c5f6fbTest

الإتاحة: https://doi.org/10.1111/nyas.15014Test
https://portal.findresearcher.sdu.dk/da/publications/d80216df-e2c5-4020-a7da-b5f351c5f6fbTest
https://findresearcher.sdu.dk/ws/files/238157433/Annals_of_the_New_York_Academy_of_Sciences_2023_Dimke.pdfTest

المؤلفون: Pozdzik, Agnieszka, Maalouf, Naim, Letavernier, Emmanuel, Brochériou, Isabelle, Body, Jean-Jacques, Vervaet, Benjamin, Van Haute, Carl, Noels, Johanna, Gadisseur, Romy, Castiglione, Vincent, Cotton, Frédéric, Gambaro, Giovanni, Daudon, Michel, Sakhaee, Khashayar

المصدر: JN. Journal of Nephrology, 32 (5

مصطلحات موضوعية: Néphrologie - urologie, Calcium -- metabolism, Crystallization, Decision Trees, Humans, Kidney Calculi -- epidemiology -- etiology -- metabolism -- therapy, Minerals -- metabolism, Nephrocalcinosis -- genetics, Nephrolithiasis -- genetics, Chronic kidney disease, Hypercalcemia, Hypercalciuria, Hyperoxaluria, Kidney stones, Nephrocalcinosis, Nephrolithiasis

وصف الملف: 1 full-text file(s): application/pdf

العلاقة: uri/info:doi/10.1007/s40620-019-00587-1; uri/info:pii/10.1007/s40620-019-00587-1; uri/info:pmid/30680550; https://dipot.ulb.ac.be/dspace/bitstream/2013/316832/1/doi_300476.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/316832Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/316832Test

المساهمون: College of Medicine, Dept. of Pharmacology, Daniela Anne Braun, Jennifer Ashley Lawson, Heon Yung Gee, Jan Halbritter, Shirlee Shril, Weizhen Tan, Deborah Stein, Ari J. Wassner, Michael A. Ferguson, Zoran Gucev, Brittany Fisher, Leslie Spaneas, Jennifer Varner, John A. Sayer, Danko Milosevic, Michelle Baum, Velibor Tasic, Friedhelm Hildebrandt, Gee, Heon Yung

مصطلحات موضوعية: Adolescent, Child, Preschool, Female, Humans, Infant, Male, Mutation, Nephrocalcinosis/epidemiology, Nephrocalcinosis/genetics, Nephrolithiasis/epidemiology, Nephrolithiasis/genetics, Prevalence, Europe, exons, genes, dominant, genetic renal disease, hypercalciuria, kidney stones, mutation, nephrocalcinosis

وصف الملف: 664~672

العلاقة: CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY; J00584; OAK-2016-01816; https://ir.ymlib.yonsei.ac.kr/handle/22282913/146721Test; http://cjasn.asnjournals.org/content/11/4/664Test; T201601169; CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, Vol.11(4) : 664-672, 2016

الإتاحة: https://doi.org/10.2215/CJN.07540715Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/146721Test
http://cjasn.asnjournals.org/content/11/4/664Test

المؤلفون: Schlingmann, Karl P, Jouret, François, Shen, Kuang, Nigam, Anukrati, Arjona, Francisco J, Dafinger, Claudia, Houillier, Pascal, Jones, Deborah P, Kleinerüschkamp, Felix, Oh, Jun, Godefroid, Nathalie, Eltan, Mehmet, Güran, Tülay, Burtey, Stéphane, Parotte, Marie-Christine, König, Jens, Braun, Alina, Bos, Caro, Ibars Serra, Maria, Rehmann, Holger, Zwartkruis, Fried J T, Renkema, Kirsten Y, Klingel, Karin, Schulze-Bahr, Eric, Schermer, Bernhard, Bergmann, Carsten, Altmüller, Janine, Thiele, Holger, Beck, Bodo B, Dahan, Karin, Sabatini, David, Liebau, Max C, Vargas-Poussou, Rosa, Knoers, Nine V A M, Konrad, Martin, de Baaij, Jeroen H F

المساهمون: Genetica Sectie Research, CMM Groep Bos, Genetica Groep Van Haaften, Child Health, Cancer, Genetica

مصطلحات موضوعية: Cardiomyopathy, Dilated/genetics, Female, HEK293 Cells, Humans, Hypercalciuria/genetics, Kidney Diseases/genetics, Kidney Tubules, Distal/metabolism, Male, Models, Molecular, Monomeric GTP-Binding Proteins/genetics, Mutation, Missense, Natriuresis/genetics, Nephrocalcinosis/genetics, Pedigree, Protein Conformation, Renal Tubular Transport, Inborn Errors/genetics, Seizures/genetics, Signal Transduction, TOR Serine-Threonine Kinases/metabolism, Whole Exome Sequencing, Whole Genome Sequencing, Journal Article, Research Support, N.I.H., Extramural

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/445180Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/445180Test

المؤلفون: Jaureguiberry, G., De la Dure-Molla, M., Parry, D., Quentric, M., Himmerkus, N., Koike, T., Poulter, J., Klootwijk, E., Robinette, S.L., Howie, A.J., Patel, V., Figueres, M.L., Stanescu, H.C., Issler, N., Nicholson, J.K., Bockenhauer, D., Laing, C., Walsh, S.B., McCredie, D.A., Povey, S., Asselin, A., Picard, A., Coulomb, A., Medlar, A.J., Bailleul-Forestier, I., Verloes, A., Le Caignec, C., Roussey, G., Guiol, J., Isidor, B., Logan, C., Shore, R., Johnson, C., Inglehearn, C., Al-Bahlani, S., Schmittbuhl, M., Clauss, F., Huckert, M., Laugel, V., Ginglinger, E., Pajarola, S., Spartà, G., Bartholdi, D., Rauch, A., Addor, M.C., Yamaguti, P.M., Safatle, H.P., Acevedo, A.C., Martelli-Júnior, H., dos Santos Netos, P.E., Coletta, R.D., Gruessel, S., Sandmann, C., Ruehmann, D., Langman, C.B., Scheinman, S.J., Ozdemir-Ozenen, D., Hart, T.C., Hart, P.S., Neugebauer, U., Schlatter, E., Houillier, P., Gahl, W.A., Vikkula, M., Bloch-Zupan, A., Bleich, M., Kitagawa, H., Unwin, R.J., Mighell, A., Berdal, A., Kleta, R.

المصدر: Nephron. Physiology, vol. 122, no. 1-2, pp. 1-6

مصطلحات موضوعية: Adolescent, Adult, Amelogenesis Imperfecta/complications, Amelogenesis Imperfecta/genetics, Child, Consanguinity, Dental Enamel Proteins/genetics, Exome/genetics, Family Health, Female, Genes, Recessive/genetics, Genetic Predisposition to Disease/genetics, Genome-Wide Association Study, Humans, Male, Middle Aged, Mutation, Nephrocalcinosis/complications, Nephrocalcinosis/genetics, Pedigree, Sequence Analysis, DNA/methods, Syndrome, Young Adult

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23434854; info:eu-repo/semantics/altIdentifier/eissn/1660-2137; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_DCEC597C12541; https://serval.unil.ch/notice/serval:BIB_DCEC597C1254Test; urn:issn:1660-2110; https://serval.unil.ch/resource/serval:BIB_DCEC597C1254.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_DCEC597C12541Test

الإتاحة: https://doi.org/10.1159/000349989Test
https://serval.unil.ch/notice/serval:BIB_DCEC597C1254Test
https://serval.unil.ch/resource/serval:BIB_DCEC597C1254.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_DCEC597C12541Test

المؤلفون: Kang, Ju Hyung, Choi, Hyun Jin, Cho, Hee Yeon, Lee, Joo Hoon, Ha, Il Soo, Cheong, Hae Il, Choi, Yong

المساهمون: 강주형, 최현진, 조희연, 이주훈, 하일수, 정해일, 최용

مصطلحات موضوعية: Base Sequence, Calcium/*urine, Calcium Metabolism Disorders/*genetics, Child, Cytosine, Female, Gene Deletion, Guanine, Heterozygote, Humans, Magnesium Deficiency/*blood/*genetics, Male, Membrane Proteins/*genetics, Molecular Sequence Data, Nephrocalcinosis/*genetics, Mutation

العلاقة: Pediatr Nephrol. 2005 Oct;20(10):1490-3. Epub 2005 Jul 27.; 0931-041X (Print); http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16047219Test; https://hdl.handle.net/10371/29517Test

الإتاحة: https://doi.org/10.1007/s00467-005-1969-7Test
https://hdl.handle.net/10371/29517Test
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16047219Test

المؤلفون: Benjamin Vervaet, Giovanni Gambaro, Johanna Noels, Khashayar Sakhaee, Vincent Castiglione, Jean-Jacques Body, Emmanuel Letavernier, Frédéric Cotton, Michel Daudon, Naim M. Maalouf, Romy Gadisseur, Carl Van Haute, Isabelle Brocheriou, Agnieszka Pozdzik

المصدر: Journal of nephrology
JN. Journal of Nephrology, 32 (5

مصطلحات موضوعية: Nephrology, medicine.medical_specialty, Kidney stones, Hypercalciuria, education, 030232 urology & nephrology, 030204 cardiovascular system & hematology, Nephrolithiasis, 03 medical and health sciences, Kidney Calculi, 0302 clinical medicine, Internal medicine, Chronic kidney disease, medicine, Mineral metabolism, Humans, Minerals -- metabolism, Biology, health care economics and organizations, Nephrocalcinosis -- genetics, Hyperoxaluria, Minerals, Néphrologie - urologie, business.industry, Decision Trees, medicine.disease, Nephrocalcinosis, Family medicine, Hypercalcemia, Calcium -- metabolism, Calcium, Kidney Calculi -- epidemiology -- etiology -- metabolism -- therapy, Human medicine, Nephrolithiasis -- genetics, business, Crystallization

وصف الملف: pdf; 1 full-text file(s): application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a932c624620140df709713cbdd5c7dfTest
https://hdl.handle.net/10067/1571700151162165141Test

المؤلفون: Colin A. Johnson, Ariane Berdal, Craig B. Langman, Detlef Bockenhauer, P. Suzanne Hart, Alan J. Mighell, Pascal Houillier, Marie-Claude Addor, Denise Ruehmann, Naomi Issler, Alain Verloes, Arnaud Picard, Audrey Asselin, Gwenaelle Roussey, Mickael Quentric, Virginie Laugel, Cédric Le Caignec, H.P.N. Safatle, David A. McCredie, Hercílio Martelli-Júnior, Robert Kleta, Enriko Klootwijk, Thomas C. Hart, Agnès Bloch-Zupan, Miikka Vikkula, Toshiyasu Koike, Marie Lucile Figueres, Bertrand Isidor, Ricardo D. Coletta, Ana Carolina Acevedo, Sandra Gruessel, Hiroshi Kitagawa, Emmanuelle Ginglinger, James A. Poulter, Anita Rauch, Sue Povey, Ute Neugebauer, Graciana Jaureguiberry, Deborah Bartholdi, Stephen B. Walsh, Alexander J. Howie, Muriel De La Dure-Molla, Julien Guiol, Chris F. Inglehearn, Eberhard Schlatter, Jeremy K. Nicholson, Vaksha Patel, Markus Bleich, Robert J. Unwin, Matthieu Schmittbuhl, François Clauss, Horia Stanescu, Clare V. Logan, Steven J. Scheinman, Sandra Pajarola, Pedro E. Dos Santos Netos, Nina Himmerkus, Alan Medlar, Giuseppina Spartà, David A. Parry, Chris Laing, Aurore Coulomb, Suhaila Al-Bahlani, Carolin Sandmann, Isabelle Bailleul-Forestier, Paulo Marcio Yamaguti, Didem Ozdemir-Ozenen, Roger C. Shore, William A. Gahl, Mathilde Huckert, Steven L. Robinette

المصدر: Nephron. Physiology
Nephron. Physiology, vol. 122, no. 1-2, pp. 1-6

مصطلحات موضوعية: Male, Pathology, Amelogenesis Imperfecta, Physiology, Genome-wide association study, medicine.disease_cause, Consanguinity, 0302 clinical medicine, Urolithiasis, FAM20B, Exome, Amelogenesis imperfecta, Child, Sanger sequencing, 0303 health sciences, Mutation, Syndrome, General Medicine, Middle Aged, Pedigree, 3. Good health, Nephrocalcinosis, Nephrology, symbols, Adolescent, Adult, Amelogenesis Imperfecta/complications, Amelogenesis Imperfecta/genetics, Dental Enamel Proteins/genetics, Exome/genetics, Family Health, Female, Genes, Recessive/genetics, Genetic Predisposition to Disease/genetics, Genome-Wide Association Study, Humans, Nephrocalcinosis/complications, Nephrocalcinosis/genetics, Sequence Analysis, DNA/methods, Young Adult, medicine.medical_specialty, FAM20C, Genes, Recessive, Nephrolithiasis, 03 medical and health sciences, symbols.namesake, Dental Enamel Proteins, Physiology (medical), medicine, Genetic Predisposition to Disease, 030304 developmental biology, Original Paper, Autosome, business.industry, Sequence Analysis, DNA, 030206 dentistry, medicine.disease, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66a9da0d46a0cce56715c53f3a9ed3b8Test
https://doi.org/10.1159/000349989Test

المؤلفون: de Baaij, Jeroen H F, Dorresteijn, Eiske M, Hennekam, Eric A M, Kamsteeg, Erik-Jan, Meijer, Rowdy, Dahan, Karin, Muller, Michelle, van den Dorpel, Marinus A, Bindels, René J M, Hoenderop, Joost G J, Devuyst, Olivier, Knoers, Nine V A M

المصدر: de Baaij , J H F , Dorresteijn , E M , Hennekam , E A M , Kamsteeg , E-J , Meijer , R , Dahan , K , Muller , M , van den Dorpel , M A , Bindels , R J M , Hoenderop , J G J , Devuyst , O & Knoers , N V A M 2015 , ' Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia ' , Nephrology, Dialysis, Transplantation , vol. 30 , no. 6 , pp. 952-957 . https://doi.org/10.1093/ndt/gfv014Test ; ISSN:0931-0509

مصطلحات موضوعية: Adult, Female, Genes, Dominant, Homeostasis/genetics, Humans, Hypercalciuria/genetics, Magnesium/blood, Male, Mutation/genetics, Nephrocalcinosis/genetics, Pedigree, Renal Tubular Transport, Inborn Errors/genetics, Sodium-Potassium-Exchanging ATPase/genetics

الإتاحة: https://doi.org/10.1093/ndt/gfv014Test
http://hdl.handle.net/11370/1a39df70-8e83-4b7c-9597-7a8d24a28b3eTest
https://research.rug.nl/en/publications/recurrent-fxyd2-pgly41arg-mutation-in-patients-with-isolated-dominant-hypomagnesaemiaTest(1a39df70-8e83-4b7c-9597-7a8d24a28b3e).html

المؤلفون: Michelle Muller, Eiske M. Dorresteijn, Marinus A. van den Dorpel, Jeroen H. F. de Baaij, Nine V A M Knoers, Joost G. J. Hoenderop, René J. M. Bindels, Eric A. M. Hennekam, Olivier Devuyst, Erik-Jan Kamsteeg, Rowdy Meijer, Karin Dahan

المساهمون: Pediatrics, Hematology, Medical Oncology, University of Zurich, Knoers, Nine V A M

المصدر: Nephrology Dialysis Transplantation, 30(6), 952-957. Oxford University Press
Nephrology, Dialysis, Transplantation, 30(6), 952-957. Oxford University Press
Nephrology Dialysis Transplantation, 30(6), 952. Oxford University Press
Nephrology, Dialysis, Transplantation, 30, 952-7
Nephrology, Dialysis, Transplantation, 30, 6, pp. 952-7

مصطلحات موضوعية: Male, 2747 Transplantation, magnesium, medicine.disease_cause, 10052 Institute of Physiology, Na+-K+-ATPase, Homeostasis, Non-U.S. Gov't, Genes, Dominant, distal convoluted tubule, Mutation, 2727 Nephrology, HYPOKALEMIA, Research Support, Non-U.S. Gov't, Renal Tubular Transport, Hypokalemia, Hypercalciuria/genetics, Pedigree, Nephrocalcinosis, Nephrology, 10076 Center for Integrative Human Physiology, Female, Sodium-Potassium-Exchanging ATPase, medicine.symptom, Nephrocalcinosis/genetics, Adult, medicine.medical_specialty, kidney, Sodium-Potassium-Exchanging ATPase/genetics, Renal Tubular Transport, Inborn Errors, NA+,K+-ATPASE GAMMA-SUBUNIT, Mutation/genetics, Hypercalciuria, 610 Medicine & health, NA+, Research Support, Hypocalciuria, Hypomagnesemia, K+-ATPASE GAMMA-SUBUNIT, Renal Tubular Transport, Inborn Errors/genetics, Magnesium/blood, Internal medicine, medicine, Journal Article, Humans, Dominant, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Transplantation, business.industry, RENAL MAGNESIUM LOSS, Haplotype, medicine.disease, Homeostasis/genetics, RAT-KIDNEY, Endocrinology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Genes, 570 Life sciences, biology, business, FXYD2, Inborn Errors/genetics, Muscle cramp, Founder effect

وصف الملف: image/pdf; gfv014.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::684317e1b7ed13588743c2fb00e0005fTest
https://pure.eur.nl/en/publications/955161a0-fd32-430e-875c-80b232b1a90aTest