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Detlef Bockenhauer

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Fahad Mahmood; Monika Mozere; Philip L Beales; Detlef Bockenhauer; Robert Kleta; Horia C Stanescu; Jonathan Tobin; Anselm A Zdebik; Claire Russell
Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome.
Detlef Bockenhauer; D G Bichet
Inherited secondary nephrogenic diabetes insipidus: concentrating on humans.
Marieke J H Coenen; Hanna Debiec; Johanne M Groothuismink; Julia M Hofstra; Robert Kleta; Peter W Mathieson; Alan J Medlar; Steve H Powis; Detlef Bockenhauer; Anne Boland-Augé; Paul E Brenchley; Horia C Stanescu; Bénédicte Stengel; Jack F M Wetzels; Pierre Ronco
Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy.

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2013: Fahad Mahmood; Monika Mozere; Philip L Beales; Detlef Bockenhauer; Robert Kleta; Horia C Stanescu; Jonathan Tobin; Anselm A Zdebik; Claire Russell
Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome.
Disease models & mechanisms 2013;6(3):652-60.
2013: Detlef Bockenhauer; D G Bichet
Inherited secondary nephrogenic diabetes insipidus: concentrating on humans.
American journal of physiology. Renal physiology 2013;304(8):F1037-42.
2013: Marieke J H Coenen; Hanna Debiec; Johanne M Groothuismink; Julia M Hofstra; Robert Kleta; Peter W Mathieson; Alan J Medlar; Steve H Powis; Detlef Bockenhauer; Anne Boland-Augé; Paul E Brenchley; Horia C Stanescu; Bénédicte Stengel; Jack F M Wetzels; Pierre Ronco
Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy.
Journal of the American Society of Nephrology : JASN 2013;24(4):677-83.
2012: Emma L Williams; Detlef Bockenhauer; Nikhil Johri; Chris Laing; Manish D Sinha; Robert Unwin; William G Van't Hoff; Adie Viljoen; Gill Rumsby
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2012;27(8):3191-5.
2012: Detlef Bockenhauer; Robert Kleta; Emma Ashton; Alan J Medlar; Nick Lench
Genetic testing in renal disease.
Pediatric nephrology (Berlin, Germany) 2012;27(6):873-83.
2012: Cristina Has; Ingrid Hausser; Yinghong He; Friedhelm Hildebrandt; Dimitra Kiritsi; Yair Anikster; Detlef Bockenhauer; Leena Bruckner-Tuderman; Benjamin Dekel; Philipp Esser; Alexander Moeller; Giuseppina Spartà; Beate K Straub; Virginia Vega-Warner; Aoife Waters; Lisa Weibel; Guido F Laube
Integrin α3 mutations with kidney, lung, and skin disease.
The New England journal of medicine 2012;366(16):1508-14.
2012: Detlef Bockenhauer; Ambrose Gullett; David Hampton; Michael D Penney; Sankar Sailesh; William van't Hoff; Daniel G Bichet
A family with hyponatremia and the nephrogenic syndrome of inappropriate antidiuresis.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2012;59(4):566-8.
2012: Catherine Quinlan; Detlef Bockenhauer; Sian Ellard; Katie Guegan; Melanie P Hiorns; William Van't Hoff; Richard O' Neill; Amaka Offiah; Aoife M Waters
Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment.
Pediatric nephrology (Berlin, Germany) 2012;27(4):581-8.
2012: Bugsu Ovunc; Virginia Vega-Warner; Neveen A Soliman Elshakhs; Shazia Ashraf; Detlef Bockenhauer; Friedhelm Hildebrandt; Mark Joseph
Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.
Nephron. Clinical practice 2012;120(3):c139-46.
2011: Detlef Bockenhauer; H Aitkenhead
The kidney speaks: interpreting urinary sodium and osmolality.
Archives of disease in childhood. Education and practice edition 2011;96(6):223-7.
2011: Graciana Jaureguiberry; Robert Kleta; Nicholas P Mann; Imran Mushtaq; William Van't Hoff; Daniel G Bichet; Divyesh Desai; Detlef Bockenhauer
A patient with polyuria and hydronephrosis: question.
Pediatric nephrology (Berlin, Germany) 2011;26(11):1977-8, 1979-80.
2011: Robert Kleta; Enriko Klootwijk; Horia Stanescu; Detlef Bockenhauer
Filtering the genes and sorting the glomerular filter: a new piece in the puzzle?
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2011;26(9):2743-5.
2011: Joanna Kenny; Melissa M Lees; Nicholas J Lench; Deborah Morrogh; Rodger Palmer; William G Van't Hoff; Jonathan J Waters; Angela Barnicoat; Susan Drury; Detlef Bockenhauer
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.
Pediatric nephrology (Berlin, Germany) 2011;26(8):1331-4.
2011: Detlef Bockenhauer
Pulse wave velocity, blood pressure and bicycle tyres.
Pediatric nephrology (Berlin, Germany) 2011;26(8):1343.
2011: Dorothy A Thompson; Sally Feather; Horia C Stanescu; Bernard Freudenthal; Anselm A Zdebik; Richard Warth; Milos Ognjanovic; Sally A Hulton; Evangeline Wassmer; William G Van't Hoff; Isabelle Russell-Eggitt; Angus Dobbie; Eamonn Sheridan; Robert Kleta; Detlef Bockenhauer
Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.
The Journal of physiology 2011;589(Pt 7):1681-9.
2011: Sascha Bandulik; Katharina Schmidt; Detlef Bockenhauer; Anselm A Zdebik; Evelyn Humberg; Robert Kleta; Richard Warth; Markus Reichold
The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.
Pflügers Archiv : European journal of physiology 2011;461(4):423-35.
2011: Horia C Stanescu; Mauricio Arcos-Burgos; Alan Medlar; Detlef Bockenhauer; Anna Kottgen; Liviu Dragomirescu; Catalin Voinescu; Naina Patel; Kerra Pearce; Mike Hubank; Henry A F Stephens; Valerie Laundy; Sandosh Padmanabhan; Anna Zawadzka; Julia M Hofstra; Marieke J H Coenen; Martin den Heijer; Lambertus A L M Kiemeney; Delphine Bacq-Daian; Benedicte Stengel; Stephen H Powis; Paul Brenchley; John Feehally; Andrew J Rees; Hanna Debiec; Jack F M Wetzels; Pierre Ronco; Peter W Mathieson; Robert Kleta
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
The New England journal of medicine 2011;364(7):616-26.
2011: Edgar Otto; Gokul Ramaswami; Sabine Janssen; Moumita Chaki; Susan J Allen; Weibin Zhou; Rannar Airik; Toby W Hurd; Amiya K Ghosh; Matthias T F Wolf; Bernd Hoppe; Thomas J Neuhaus; Detlef Bockenhauer; David V Milford; Neveen Soliman; Corinne Antignac; Sophie Saunier; Colin A Johnson; Friedhelm Hildebrandt
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Journal of medical genetics 2011;48(2):105-16.
2011: Dalia Kasperavičiūtė; Martin Koltzenburg; John M Land; Nicholas Lench; Lillian Martinian; Simon A Pope; Maria Thom; Shazia Adalat; Detlef Bockenhauer; Claudia Bacanhim Catarino; Krishna Chinthapalli; Lisa M S Clayton; Hannah Cohen; John S Duncan; Peter Hammond; Raoul C M Hennekam; Sanjay M Sisodiya
Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions.
PloS one 2011;6(8):e23182.
2011: Brendan R Barber; Martin A Weber; Detlef Bockenhauer; Melanie P Hiorns; Kieran McHugh
Postmortem MRI of bladder agenesis.
Pediatric radiology 2011;41(1):110-2.
2010: Djalila Mekahli; Adrian S Woolf; Detlef Bockenhauer
Similar renal outcomes in children with ADPKD diagnosed by screening or presenting with symptoms.
Pediatric nephrology (Berlin, Germany) 2010;25(11):2275-82.
2010: Shazia Adalat; Detlef Bockenhauer; Sarah E Ledermann; Raoul C Hennekam; Adrian S Woolf
Renal malformations associated with mutations of developmental genes: messages from the clinic.
Pediatric nephrology (Berlin, Germany) 2010;25(11):2247-55.
2010: Dominik S Schoeb; Gil Chernin; Saskia F Heeringa; Verena Matejas; Susanne Held; Virginia Vega-Warner; Detlef Bockenhauer; Christopher N Vlangos; Khemchand N Moorani; Thomas J Neuhaus; Jameela A Kari; James MacDonald; Pawaree Saisawat; Shazia Ashraf; Bugsu Ovunc; Martin Zenker; Friedhelm Hildebrandt
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2010;25(9):2970-6.
2010: Markus Reichold; Anselm A Zdebik; Evelyn Lieberer; Markus Rapedius; Katharina Schmidt; Sascha Bandulik; Christina Sterner; Ines Tegtmeier; David Penton; Thomas Baukrowitz; Sally-Anne Hulton; Ralph Witzgall; Bruria Ben-Zeev; Alexander J Howie; Robert Kleta; Detlef Bockenhauer; Richard Warth
KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(32):14490-5.
2010: Detlef Bockenhauer; William G Van't Hoff; Mehul T Dattani; A Lehnhardt; M Subtirelu; Friedhelm Hildebrandt; D G Bichet
Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases.
Nephron. Physiology 2010;116(4):p23-9.
2010: Detlef Bockenhauer; Michel Bouvier; Billy Breton; Eric Carpentier; Driss Rochdi; William G Van't Hoff; Virginie Bernier; Daniel G Bichet
Vasopressin type 2 receptor V88M mutation: molecular basis of partial and complete nephrogenic diabetes insipidus.
Nephron. Physiology 2010;114(1):p1-10.
2009: Detlef Bockenhauer; William G Van't Hoff; Gil Chernin; Saskia F Heeringa; Neil J Sebire
Membranoproliferative glomerulonephritis associated with a mutation in Wilms' tumour suppressor gene 1.
Pediatric nephrology (Berlin, Germany) 2009;24(7):1399-401.
2009: Janette Cansick; Lesley Rees; Geoff Koffman; William G Van't Hoff; Detlef Bockenhauer
A fatal case of cerebral oedema with hyponatraemia and massive polyuria after renal transplantation.
Pediatric nephrology (Berlin, Germany) 2009;24(6):1231-4.
2009: Detlef Bockenhauer; Sally Feather; Horia C Stanescu; Sascha Bandulik; Anselm A Zdebik; Markus Reichold; Jonathan Tobin; Evelyn Lieberer; Christina Sterner; Guida Landoure; Ruchi Arora; Tony Sirimanna; Dorothy Thompson; J Helen Cross; William G Van't Hoff; Omar Al Masri; Kjell Tullus; Stella Yeung; Yair Anikster; Enriko Klootwijk; Mike Hubank; Michael J Dillon; Dirk Heitzmann; Mauricio Arcos-Burgos; Mark A Knepper; Angus Dobbie; William A Gahl; Richard Warth; Eamonn Sheridan; Robert Kleta
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
The New England journal of medicine 2009;360(19):1960-70.
2009: Shazia Adalat; Adrian S Woolf; Karen A Johnstone; Andrea Wirsing; Lorna W Harries; David A Long; Raoul Hennekam; Sarah E Ledermann; Lesley Rees; William G Van't Hoff; Stephen D Marks; Richard S Trompeter; Kjell Tullus; Paul J Winyard; Janette Cansick; Imran Mushtaq; Harjeeta K Dhillon; Coralie Bingham; Emma L Edghill; Rukshana Shroff; Horia Stanescu; Gerhart U Ryffel; Sian Ellard; Detlef Bockenhauer
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.
Journal of the American Society of Nephrology : JASN 2009;20(5):1123-31.
2009: Detlef Bockenhauer; Martin J Hug; Robert Kleta
Cystic fibrosis, aminoglycoside treatment and acute renal failure: the not so gentle micin.
Pediatric nephrology (Berlin, Germany) 2009;24(5):925-8.
2008: Detlef Bockenhauer; M Cruwys; R Kleta; L F Halperin; P Wildgoose; T Souma; N Nukiwa; S Cheema-Dhadli; C K Chong; K S Kamel; M R Davids; M L Halperin
Antenatal Bartter's syndrome: why is this not a lethal condition?
QJM : monthly journal of the Association of Physicians 2008;101(12):927-42.
2008: Cecilie Bredrup; Verena Matejas; Margaret Barrow; Kveta Bláhová; Detlef Bockenhauer; DJ Fowler; Richard M Gregson; Iwona Maruniak-Chudek; Ana Medeira; Erica Laima Mendonça; Mikhail Kagan; Jens Koenig; Hermann Krastel; Hester Y Kroes; Anand Saggar; Taylor Sawyer; Michael Schittkowski; Janusz Swietliński; Dorothy Thompson; Rene G VanDeVoorde; Dienke Wittebol-Post; Geoffrey Woodruff; Aleksandra Zurowska; Raoul Hennekam; Martin Zenker; Isabelle Russell-Eggitt
Ophthalmological aspects of Pierson syndrome.
American journal of ophthalmology 2008;146(4):602-611.
2008: Detlef Bockenhauer; Lesley Rees; Hartmut Neumann; Ying Foo
A sporadic case of paraganglioma undetected by urine metabolite screening.
Pediatric nephrology (Berlin, Germany) 2008;23(10):1889-91.
2008: Detlef Bockenhauer; Arend Bokenkamp; William van't Hoff; Elena Levtchenko; Joana E Kist-Van Holthe; Velibor Tasic; Michael Ludwig
Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.
Clinical journal of the American Society of Nephrology : CJASN 2008;3(5):1430-6.
2008: Detlef Bockenhauer; Hanna Debiec; Neil Sebire; Martin Barratt; Paul Warwicker; Pierre Ronco; Robert Kleta
Familial membranous nephropathy: an X-linked genetic susceptibility?
Nephron. Clinical practice 2008;108(1):c10-5.
2006: Dominik Müller; P Jaya Kausalya; Detlef Bockenhauer; Julia Thumfart; Iwan C Meij; Michael J Dillon; William G Van't Hoff; Walter Hunziker
Unusual clinical presentation and possible rescue of a novel claudin-16 mutation.
The Journal of clinical endocrinology and metabolism 2006;91(8):3076-9.
2006: Detlef Bockenhauer; Lesley Rees; William G Van't Hoff
An association of tubular dysfunction, cortical macrocysts and chronic kidney disease.
Pediatric nephrology (Berlin, Germany) 2006;21(4):580-3.
2006: Robert Kleta; Detlef Bockenhauer
Bartter syndromes and other salt-losing tubulopathies.
Nephron. Physiology 2006;104(2):p73-80.
2005: Rajasree Sreedharan; Detlef Bockenhauer
Congenital nephrotic syndrome responsive to angiotensin-converting enzyme inhibition.
Pediatric nephrology (Berlin, Germany) 2005;20(9):1340-2.
2004: Robert Kleta; Elisa Romeo; Zorica Ristic; Toshihiro Ohura; Caroline Stuart; Mauricio Arcos-Burgos; Mital H Dave; Carsten A Wagner; Simone R M Camargo; Sumiko Inoue; Norio Matsuura; Amanda Helip-Wooley; Detlef Bockenhauer; Richard Warth; Isa Bernardini; Gepke Visser; Thomas Eggermann; Philip Lee; Arthit Chairoungdua; Promsuk Jutabha; Ellappan Babu; Sirinun Nilwarangkoon; Naohiko Anzai; Yoshikatsu Kanai; François Verrey; William A Gahl; Akio Koizumi
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
Nature genetics 2004;36(9):999-1002.
2004: Brent Lee Lechner; Detlef Bockenhauer; Sandra Iragorri; Thomas Lyle Kennedy; Norman J Siegel
The risk of cardiovascular disease in adults who have had childhood nephrotic syndrome.
Pediatric nephrology (Berlin, Germany) 2004;19(7):744-8.
2004: Daniel I Levy; Heino Velazquez; Steve A N Goldstein; Detlef Bockenhauer
Segment-specific expression of 2P domain potassium channel genes in human nephron.
Kidney international 2004;65(3):918-26.
2001: Detlef Bockenhauer; Noam Zilberberg; Steve A N Goldstein
KCNK2: reversible conversion of a hippocampal potassium leak into a voltage-dependent channel.
Nature neuroscience 2001;4(5):486-91.
2001: J Hausladen; E Granahan; Detlef Bockenhauer
Case report: Teenage girl with proteinuria and amenorrhea.
Current opinion in pediatrics 2001;13(2):150-3.
2001: Detlef Bockenhauer
Ion channels in disease.
Current opinion in pediatrics 2001;13(2):142-9.
2001: Steve A N Goldstein; Detlef Bockenhauer; I O'Kelly; Noam Zilberberg
Potassium leak channels and the KCNK family of two-P-domain subunits.
Nature reviews. Neuroscience 2001;2(3):175-84.
2000: Detlef Bockenhauer; Manjunath Nimmakayalu; David C Ward; Steve A N Goldstein; Patrick G Gallagher
Genomic organization and chromosomal localization of the murine 2 P domain potassium channel gene Kcnk8: conservation of gene structure in 2 P domain potassium channels.
Gene 2000;261(2):365-72.
1999: P Jorquera; J Wu; Detlef Bockenhauer
Nonanion gap metabolic acidosis in a newborn.
Current opinion in pediatrics 1999;11(2):169-73.