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by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sana D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and van Tilbeurgh, Herman and Zenker, Martin and ...
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 10, pp. 1529 - 1529
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly... 
YEAST | UNFOLDED PROTEIN RESPONSE | TRANSFER-RNA MODIFICATION | DNA | KINASE | SECKEL-SYNDROME | GENOME MAINTENANCE | WDR73 | GALLOWAY-MOWAT SYNDROME | MASS-SPECTROMETRY | GENETICS & HEREDITY | Metalloendopeptidases - genetics | Protein-Serine-Threonine Kinases - deficiency | Microcephaly - genetics | Humans | Metalloendopeptidases - deficiency | Apoptosis - genetics | Multiprotein Complexes - genetics | Nephrotic Syndrome - genetics | DNA Repair - genetics | Telomere Homeostasis - genetics | Endoplasmic Reticulum Stress - genetics | Intracellular Signaling Peptides and Proteins - deficiency | Hernia, Hiatal - genetics | Intracellular Signaling Peptides and Proteins - genetics | Podocytes - metabolism | RNA, Transfer - metabolism | Protein-Serine-Threonine Kinases - genetics | Models, Molecular | Nephrotic Syndrome - pathology | Zebrafish | Cytoskeleton - ultrastructure | Nephrosis - genetics | Gene Knockout Techniques | Carrier Proteins - genetics | Podocytes - ultrastructure | Zebrafish Proteins - deficiency | Animals | RNA Processing, Post-Transcriptional - genetics | CRISPR-Cas Systems | Protein Conformation | Mice | Mutation | Zebrafish Proteins - genetics | Cell Movement | Genetic disorders | Gene mutations | Development and progression | Nephrotic syndrome | Genetic aspects | Microcephaly | Health aspects | Cell proliferation | Brain | CRISPR | Genes | DNA damage | Genomes | Lethality | Kinases | Proteins | Genotype & phenotype | Microencephaly | Actin | Biopsy | Cytoskeleton | Scientific imaging | Endoplasmic reticulum | Mass spectrometry | Deoxyribonucleic acid--DNA | Apoptosis | Life Sciences
Journal Article
Human Mutation, ISSN 1059-7794, 02/2014, Volume 35, Issue 2, pp. 178 - 186
Journal Article
BMC Nephrology, ISSN 1471-2369, 07/2017, Volume 18, Issue 1, pp. 210 - 8
Journal Article
by Mansour‐Hendili, Lamisse and Blanchard, Anne and Pottier, Nelly and Roncelin, Isabelle and Lourdel, Stéphane and Treard, Cyrielle and González, Wendy and Vergara‐Jaque, Ariela and Morin, Gilles and Colin, Estelle and Holder‐Espinasse, Muriel and Bacchetta, Justine and Baudouin, Véronique and Benoit, Stéphane and Bérard, Etienne and Bourdat‐Michel, Guylhène and Bouchireb, Karim and Burtey, Stéphane and Cailliez, Mathilde and Cardon, Gérard and Cartery, Claire and Champion, Gerard and Chauveau, Dominique and Cochat, Pierre and Dahan, Karin and Faille, Renaud and Debray, François‐Guillaume and Dehoux, Laurenne and Deschenes, Georges and Desport, Estelle and Devuyst, Olivier and Dieguez, Stella and Emma, Francesco and Fischbach, Michel and Fouque, Denis and Fourcade, Jacques and François, Hélène and Gilbert‐Dussardier, Brigitte and Hannedouche, Thierry and Houillier, Pascal and Izzedine, Hassan and Janner, Marco and Karras, Alexandre and Knebelmann, Bertrand and Lavocat, Marie‐Pierre and Lemoine, Sandrine and Leroy, Valérie and Loirat, Chantal and Macher, Marie‐Alice and Martin‐Coignard, Dominique and Morin, Denis and Niaudet, Patrick and Nivet, Hubert and Nobili, François and Novo, Robert and Faivre, Laurence and Rigothier, Claire and Roussey‐Kesler, Gwenaëlle and Salomon, Remi and Schleich, Andreas and Sellier‐Leclerc, Anne‐Laure and Soulami, Kenza and Tiple, Aurélien and Ulinski, Tim and Vanhille, Philippe and Regemorter, Nicole and Jeunemaître, Xavier and Vargas‐Poussou, Rosa
Human Mutation, ISSN 1059-7794, 08/2015, Volume 36, Issue 8, pp. 743 - 752
Journal Article
Journal Article
by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F. P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaelle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I. Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Yung Gee, Heon and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sandra D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'Ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T. F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and Van Tilbeurgh, Herman and Zenker, Martin and ...
Nature Genetics, ISSN 1061-4036, 10/2017, Volume 49, Issue 10, pp. 1529 - 1538
Journal Article
by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I. Chiara and Sanchez-Ferras, Oraly and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian and Daga, Ankana and LeBerre, Tamara Basta and Matejas, Verena and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okasha and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wolf, Matthias T.F and Wong, Sik-Nin and Poduri, Annapurna and Truglio, Gessica and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Calleweart, Bert and van Tilbeurgh, Herman and Zenker, Martin and Antignac, Corinne and Hildebrandt, Friedhelm
Nature genetics, ISSN 1061-4036, 10/2017, Volume 49, Issue 10, pp. 1529 - 1538
Galloway-Mowat syndrome (GAMOS) is a severe autosomal-recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome... 
Journal Article
Genetic Testing and Molecular Biomarkers, ISSN 1945-0265, 11/2015, Volume 19, Issue 11, pp. 623 - 628
Journal Article
by Mansour-Hendili, Lamisse and Blanchard, Anne and Le Pottier, Nelly and Roncelin, Isabelle and Lourdel, Stéphane and Treard, Cyrielle and González, Wendy and Vergara-Jaque, Ariela and Morin, Gilles and Colin, Estelle and Holder-Espinasse, Muriel and Bacchetta, Justine and Baudouin, Véronique and Benoit, Stéphane and Bérard, Etienne and Bourdat-Michel, Guylhène and Bouchireb, Karim and Burtey, Stéphane and Cailliez, Mathilde and Cardon, Gérard and Cartery, Claire and Champion, Gerard and Chauveau, Dominique and Cochat, Pierre and Dahan, Karin and De la Faille, Renaud and Debray, François-Guillaume and Dehoux, Laurenne and Deschenes, Georges and Desport, Estelle and Devuyst, Olivier and Dieguez, Stella and Emma, Francesco and Fischbach, Michel and Fouque, Denis and Fourcade, Jacques and François, Hélène and Gilbert-Dussardier, Brigitte and Hannedouche, Thierry and Houillier, Pascal and Izzedine, Hassan and Janner, Marco and Karras, Alexandre and Knebelmann, Bertrand and Lavocat, Marie-Pierre and Lemoine, Sandrine and Leroy, Valérie and Loirat, Chantal and Macher, Marie-Alice and Martin-Coignard, Dominique and Morin, Denis and Niaudet, Patrick and Nivet, Hubert and Nobili, François and Novo, Robert and Faivre, Laurence and Rigothier, Claire and Roussey-Kesler, Gwenaëlle and Salomon, Remi and Schleich, Andreas and Sellier-Leclerc, Anne-Laure and Soulami, Kenza and Tiple, Aurélien and Ulinski, Tim and Vanhille, Philippe and Van Regemorter, Nicole and Jeunemaître, Xavier and Vargas-Poussou, Rosa
Human Mutation, ISSN 1059-7794, 08/2015, Volume 36, Issue 8, pp. 743 - 752
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 07/2010, Volume 47, Issue 7, pp. 445 - 52
BACKGROUND: Mutations in the PLCE1 gene encoding phospholipase C epsilon 1 (PLCepsilon1) have been recently described in patients with early onset nephrotic... 
Genetic Predisposition to Disease | Humans | Middle Aged | Child, Preschool | Infant | Male | Phosphoinositide Phospholipase C | Nephrotic Syndrome | Life Sciences | Phenotype | DNA Mutational Analysis | Adolescent | Statistics, Nonparametric | Aged, 80 and over | Adult | Female | Genetics | Aged | Glomerulosclerosis, Focal Segmental | Mutation | Child | Steroids | Cohort Studies
Journal Article
Nephrologie et Therapeutique, ISSN 1769-7255, 2012, Volume 8, Issue 4, pp. 247 - 258
Acute postinfectious glomerulonephritis are defined by an acute nonsuppurative inflammatory insult predominantly glomerular. Its current incidence is uncertain... 
Infection | Acute nephritic syndrome | Renal biopsy | Streptococcus | Acute postinfectious glomerulonephritis | Endocapillary proliferation | Complement | Immune complex
Journal Article
Néphrologie & Thérapeutique, ISSN 1769-7255, 07/2012, Volume 8, Issue 4, pp. 247 - 258
Les glomérulonéphrites aiguës postinfectieuses sont définies par une agression inflammatoire aiguë non suppurative à prédominance glomérulaire. Leur incidence... 
Biopsie rénale | Endocapillary proliferation | Glomérulonéphrite aiguë | Complexes immuns | Infections | Complement | Streptocoque | Infection | Acute nephritic syndrome | Renal biopsy | Streptococcus | Acute postinfectious glomerulonephritis | Complément | Prolifération endocapillaire | Syndrome néphritique aigu | Immune complex
Journal Article