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Marchesin, Valentina [Author]; Pérez-Martí, Albert [Author]; Le Meur, Gwenn [Author]; Pichler, Roman [Author]; Grand, Kelli [Author]; Klootwijk, Enriko D. [Author]; Kesselheim, Anne [Author]; Kleta, Robert [Author]; Lienkamp, Soeren [Author]; Simons, Matias [Author]

Molecular basis for autosomal-dominant renal fanconi syndrome caused by HNF4A

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New York, NY: Elsevier, 2019

Published in: Cell reports ; 29, 13 (2019), 4407-4421.e5
Jaureguiberry, Graciana [Author]; De la Dure-Molla, Muriel [Author]; Parry, David [Author]; Quentric, Mickael [Author]; Himmerkus, Nina [Author]; Koike, Toshiyasu [Author]; Poulter, James [Author]; Klootwijk, Enriko [Author]; Robinette, Steven L. [Author]; Howie, Alexander J. [Author]; Patel, Vaksha [Author]; Figueres, Marie-Lucile [Author]; Stanescu, Horia C. [Author]; Issler, Naomi [Author]; Nicholson, Jeremy K. [Author]; Bockenhauer, Detlef [Author]; Laing, Christopher [Author]; Walsh, Stephen B. [Author]; McCredie, David A. [Author]; Povey, Sue [Author]; Asselin, Audrey [Author]; Picard, Arnaud [Author]; Coulomb, Aurore [Author]; Medlar, Alan J. [Author]; [...]

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsNephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations

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https://nbn-resolving.org/urn:nbn:de:gbv:8-mods-2020-00556-0

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Basel: Karger, 23 February 2013

Published in: Nephron. Physiology ; 122 (2012), 1-2
Klootwijk, Enriko D.; Reichold, Markus; Unwin, Robert J.; Kleta, Robert; Warth, Richard; Bockenhauer, Detlef

Renal Fanconi syndrome: taking a proximal look at the nephron

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Oxford University Press (OUP), 2015

Published in: Nephrology Dialysis Transplantation
Nadarajah, Luxme; Khosravi, Maryam; Dumitriu, Simona; Klootwijk, Enriko; Kleta, Robert; Yaqoob, Muhammad M; Walsh, Stephen B

A novel claudin-16 mutation, severe bone disease, and nephrocalcinosis

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Elsevier BV, 2014

Published in: The Lancet
Dumitriu, Simona; Klootwijk, Enriko; Issler, Naomi; Stanescu, Horia; Kleta, Robert; Puiu, Maria

Mutation analysis of the MECP2 gene in Romanian females with Rett syndrome

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Walter de Gruyter GmbH, 2013

Published in: Romanian Review of Laboratory Medicine
Marchesin, Valentina; Marti, Albert Perez; Le Meur, Gwenn; Pichler, Roman; Grand, Kelli; Klootwijk, Enriko; Kleta, Robert; Lienkamp, Soeren; Simons, Matias

Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A

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Elsevier BV, 2019

Published in: SSRN Electronic Journal
Marchesin, Valentina; Marti, Albert Perez; Le Meur, Gwenn; Pichler, Roman; Grand, Kelli; Klootwijk, Enriko; Kleta, Robert; Lienkamp, Soeren; Simons, Matias

Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A

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Elsevier BV, 2019

Published in: SSRN Electronic Journal
Fish, Richard S.; Klootwijk, Enriko; Tam, Frederick W. K.; Kleta, Robert; Wheeler, David C.; Unwin, Robert J.; Norman, Jill

ATP and arterial calcification

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Wiley, 2013

Published in: European Journal of Clinical Investigation
Meindl, Katrin; Issler, Naomi; Afonso, Sara; Cebrian-Serrano, Alberto; Müller, Karin; Sterner, Christina; Othmen, Helga; Tegtmeier, Ines; Witzgall, Ralph; Klootwijk, Enriko; Davies, Benjamin; Kleta, Robert; Warth, Richard

A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility

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Frontiers Media SA, 2023

Published in: Frontiers in Cell and Developmental Biology
Patel, Vaksha; Klootwijk, Enriko; Whiting, Gail; Bockenhauer, Detlef; Siew, Keith; Walsh, Stephen; Bleich, Markus; Himmerkus, Nina; Jaureguiberry, Graciana; Issler, Naomi; Godovac‐Zimmermann, Jasminka; Kleta, Robert; Wheeler, Jun

Quantification of FAM20A in human milk and identification of calcium metabolism proteins

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Wiley, 2021

Published in: Physiological Reports
Marchesin, Valentina; Pérez-Martí, Albert; Le Meur, Gwenn; Pichler, Roman; Grand, Kelli; Klootwijk, Enriko D.; Kesselheim, Anne; Kleta, Robert; Lienkamp, Soeren; Simons, Matias

Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A

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Elsevier BV, 2019

Published in: Cell Reports
Marks, Stephen D.; Gullett, Ambrose M.; Brennan, Eileen; Tullus, Kjell; Jaureguiberry, Graciana; Klootwijk, Enriko; Stanescu, Horia C.; Kleta, Robert; Woolf, Adrian S.

Renal FMD may not confer a familial hypertensive risk nor is it caused by ACTA2 mutations

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Springer Science and Business Media LLC, 2011

Published in: Pediatric Nephrology
Assmann, Nadine; Dettmer, Katja; Simbuerger, Johann M.B.; Broeker, Carsten; Nuernberger, Nadine; Renner, Kathrin; Courtneidge, Holly; Klootwijk, Enriko D.; Duerkop, Axel; Hall, Andrew; Kleta, Robert; Oefner, Peter J.; Reichold, Markus; Reinders, Joerg

Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy

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Elsevier BV, 2016

Published in: Cell Reports
Kakani, Sravan; Yardeni, Tal; Poling, Justin; Ciccone, Carla; Niethamer, Terren; Klootwijk, Enriko D.; Manoli, Irini; Darvish, Daniel; Hoogstraten-Miller, Shelley; Zerfas, Patricia; Tian, E.; Ten Hagen, Kelly G.; Kopp, Jeffrey B.; Gahl, William A.; Huizing, Marjan

The Gne M712T Mouse as a Model for Human Glomerulopathy

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Elsevier BV, 2012

Published in: The American Journal of Pathology
Parrock, Sophie; Hussain, Sofia; Issler, Naomi; Differ, Ann-Marie; Lench, Nicholas; Guarino, Stefano; Oosterveld, Michiel J.S.; Keijzer-Veen, Mandy; Brilstra, Eva; van Wieringen, Hester; Konijnenberg, A. Yvette; Amin-Rasip, Sarah; Dumitriu, Simona; Klootwijk, Enriko; Knoers, Nine; Bockenhauer, Detlef; Kleta, Robert; Zdebik, Anselm A.

KCNJ10 Mutations Display Differential Sensitivity to Heteromerisation with KCNJ16

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S. Karger AG, 2013

Published in: Nephron Physiology
Dufek, Stephanie; Cheshire, Chris; Levine, Adam P.; Trompeter, Richard S.; Issler, Naomi; Stubbs, Matthew; Mozere, Monika; Gupta, Sanjana; Klootwijk, Enriko; Patel, Vaksha; Hothi, Daljit; Waters, Aoife; Webb, Hazel; Tullus, Kjell; Jenkins, Lucy; Godinho, Lighta; Levtchenko, Elena; Wetzels, Jack; Knoers, Nine; Teeninga, Nynke; Nauta, Jeroen; Shalaby, Mohamed; Eldesoky, Sherif; Kari, Jameela A.; [...]

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome

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Ovid Technologies (Wolters Kluwer Health), 2019

Published in: Journal of the American Society of Nephrology
Bockenhauer, Detlef; Feather, Sally; Stanescu, Horia C.; Bandulik, Sascha; Zdebik, Anselm A.; Reichold, Markus; Tobin, Jonathan; Lieberer, Evelyn; Sterner, Christina; Landoure, Guida; Arora, Ruchi; Sirimanna, Tony; Thompson, Dorothy; Cross, J. Helen; van't Hoff, William; Al Masri, Omar; Tullus, Kjell; Yeung, Stella; Anikster, Yair; Klootwijk, Enriko; Hubank, Mike; Dillon, Michael J.; Heitzmann, Dirk; Arcos-Burgos, Mauricio; [...]

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations

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Massachusetts Medical Society, 2009

Published in: New England Journal of Medicine
Issler, Naomi; Afonso, Sara; Weissman, Irith; Jordan, Katrin; Cebrian-Serrano, Alberto; Meindl, Katrin; Dahlke, Eileen; Tziridis, Konstantin; Yan, Guanhua; Robles-López, José M.; Tabernero, Lydia; Patel, Vaksha; Kesselheim, Anne; Klootwijk, Enriko D.; Stanescu, Horia C.; Dumitriu, Simona; Iancu, Daniela; Tekman, Mehmet; Mozere, Monika; Jaureguiberry, Graciana; Outtandy, Priya; Russell, Claire; Forst, Anna-Lena; Sterner, Christina; [...]

A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness

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Ovid Technologies (Wolters Kluwer Health), 2022

Published in: Journal of the American Society of Nephrology
Cabezas, Oscar Rubio; Flanagan, Sarah E.; Stanescu, Horia; García-Martínez, Elena; Caswell, Richard; Lango-Allen, Hana; Antón-Gamero, Montserrat; Argente, Jesús; Bussell, Anna-Marie; Brandli, Andre; Cheshire, Chris; Crowne, Elizabeth; Dumitriu, Simona; Drynda, Robert; Hamilton-Shield, Julian P; Hayes, Wesley; Hofherr, Alexis; Iancu, Daniela; Issler, Naomi; Jefferies, Craig; Jones, Peter; Johnson, Matthew; Kesselheim, Anne; Klootwijk, Enriko; [...]

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2

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Ovid Technologies (Wolters Kluwer Health), 2017

Published in: Journal of the American Society of Nephrology
Klootwijk, Enriko D.; Reichold, Markus; Helip-Wooley, Amanda; Tolaymat, Asad; Broeker, Carsten; Robinette, Steven L.; Reinders, Joerg; Peindl, Dominika; Renner, Kathrin; Eberhart, Karin; Assmann, Nadine; Oefner, Peter J.; Dettmer, Katja; Sterner, Christina; Schroeder, Josef; Zorger, Niels; Witzgall, Ralph; Reinhold, Stephan W.; Stanescu, Horia C.; Bockenhauer, Detlef; Jaureguiberry, Graciana; Courtneidge, Holly; Hall, Andrew M.; Wijeyesekera, Anisha D.; [...]

Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome

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Massachusetts Medical Society, 2014

Published in: New England Journal of Medicine

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