Publications by authors named "Robert Kleta"

100Publications

Genetics of renovascular hypertension in children.

J Hypertens 2020 Oct;38(10):1964-1970

Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust.

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http://dx.doi.org/10.1097/HJH.0000000000002491DOI Listing
October 2020

Genetics of renovascular hypertension in children.

J Hypertens 2020 Jun 12. Epub 2020 Jun 12.

Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust.

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http://dx.doi.org/10.1097/HJH.0000000000002491DOI Listing
June 2020

Inherited Tubulopathies of the Kidney: Insights from Genetics.

Clin J Am Soc Nephrol 2020 Apr 1. Epub 2020 Apr 1.

Department of Renal Medicine, University College London, London, United Kingdom; and

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http://dx.doi.org/10.2215/CJN.14481119DOI Listing
April 2020

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis.

Authors:
Jingyuan Xie Lili Liu Nikol Mladkova Yifu Li Hong Ren Weiming Wang Zhao Cui Li Lin Xiaofan Hu Xialian Yu Jing Xu Gang Liu Yasar Caliskan Carlo Sidore Olivia Balderes Raphael J Rosen Monica Bodria Francesca Zanoni Jun Y Zhang Priya Krithivasan Karla Mehl Maddalena Marasa Atlas Khan Fatih Ozay Pietro A Canetta Andrew S Bomback Gerald B Appel Simone Sanna-Cherchi Matthew G Sampson Laura H Mariani Agnieszka Perkowska-Ptasinska Magdalena Durlik Krzysztof Mucha Barbara Moszczuk Bartosz Foroncewicz Leszek Pączek Ireneusz Habura Elisabet Ars Jose Ballarin Laila-Yasmin Mani Bruno Vogt Savas Ozturk Abdülmecit Yildiz Nurhan Seyahi Hakki Arikan Mehmet Koc Taner Basturk Gonca Karahan Sebahat Usta Akgul Mehmet Sukru Sever Dan Zhang Domenico Santoro Mario Bonomini Francesco Londrino Loreto Gesualdo Jana Reiterova Vladimir Tesar Claudia Izzi Silvana Savoldi Donatella Spotti Carmelita Marcantoni Piergiorgio Messa Marco Galliani Dario Roccatello Simona Granata Gianluigi Zaza Francesca Lugani GianMarco Ghiggeri Isabella Pisani Landino Allegri Ben Sprangers Jin-Ho Park BeLong Cho Yon Su Kim Dong Ki Kim Hitoshi Suzuki Antonio Amoroso Daniel C Cattran Fernando C Fervenza Antonello Pani Patrick Hamilton Shelly Harris Sanjana Gupta Chris Cheshire Stephanie Dufek Naomi Issler Ruth J Pepper John Connolly Stephen Powis Detlef Bockenhauer Horia C Stanescu Neil Ashman Ruth J F Loos Eimear E Kenny Matthias Wuttke Kai-Uwe Eckardt Anna Köttgen Julia M Hofstra Marieke J H Coenen Lambertus A Kiemeney Shreeram Akilesh Matthias Kretzler Lawrence H Beck Benedicte Stengel Hanna Debiec Pierre Ronco Jack F M Wetzels Magdalena Zoledziewska Francesco Cucca Iuliana Ionita-Laza Hajeong Lee Elion Hoxha Rolf A K Stahl Paul Brenchley Francesco Scolari Ming-Hui Zhao Ali G Gharavi Robert Kleta Nan Chen Krzysztof Kiryluk

Nat Commun 2020 03 30;11(1):1600. Epub 2020 Mar 30.

Department of Medicine, Division of Nephrology, Columbia University, College of Physicians & Surgeons, New York, USA.

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http://dx.doi.org/10.1038/s41467-020-15383-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7105485PMC
March 2020

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

Cell Rep 2019 12;29(13):4407-4421.e5

INSERM UMR1163, Laboratory of Epithelial Biology and Disease, Imagine Institute, Paris Descartes University, Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2019.11.066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6941224PMC
December 2019

Bartter and Gitelman syndromes: Questions of class.

Pediatr Nephrol 2020 Oct 29;35(10):1815-1824. Epub 2019 Oct 29.

Renal Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1007/s00467-019-04371-yDOI Listing
October 2020

Long-term outcome in inherited nephrogenic diabetes insipidus.

Clin Kidney J 2019 Apr 13;12(2):180-187. Epub 2018 Apr 13.

Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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https://academic.oup.com/ckj/article/12/2/180/4969891
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http://dx.doi.org/10.1093/ckj/sfy027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452213PMC
April 2019

Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families.

Eur J Med Genet 2019 Nov 28;62(11):103561. Epub 2018 Oct 28.

Department of Dentistry, Federal University of Jequitinhonha and Mucuri Valleys, UFVJM, Brazil.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183024
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http://dx.doi.org/10.1016/j.ejmg.2018.10.013DOI Listing
November 2019

Makes Me Miserable.

J Am Soc Nephrol 2018 09 17;29(9):2257-2258. Epub 2018 Aug 17.

Division of Medicine, Department of Nephrology, University College London, London, UK

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http://dx.doi.org/10.1681/ASN.2018070742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115660PMC
September 2018

Clinical and diagnostic features of Bartter and Gitelman syndromes.

Clin Kidney J 2018 Jun 10;11(3):302-309. Epub 2017 Nov 10.

Department of Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1093/ckj/sfx118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007694PMC
June 2018

Zebrafish as a model for kidney function and disease.

Pediatr Nephrol 2019 05 3;34(5):751-762. Epub 2018 Mar 3.

Centre for Nephrology, Royal Free Hospital/Medical School, University College London, 1. Floor, Room 1.7007, Rowland Hill Street, London, NW3 2PF, UK.

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http://dx.doi.org/10.1007/s00467-018-3921-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6424945PMC
May 2019

OVAS: an open-source variant analysis suite with inheritance modelling.

BMC Bioinformatics 2018 02 8;19(1):46. Epub 2018 Feb 8.

Division of Medicine, University College London, London, NW3 2PF, UK.

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http://dx.doi.org/10.1186/s12859-018-2030-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5806474PMC
February 2018

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

Kidney Int 2018 04 15;93(4):961-967. Epub 2018 Feb 15.

Centre for Nephrology, University College London, London, UK; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2017.10.016DOI Listing
April 2018

Salt-Losing Tubulopathies in Children: What's New, What's Controversial?

J Am Soc Nephrol 2018 03 13;29(3):727-739. Epub 2017 Dec 13.

UCL Centre for Nephrology and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom

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http://dx.doi.org/10.1681/ASN.2017060600DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5827598PMC
March 2018

Genetics of membranous nephropathy.

Nephrol Dial Transplant 2018 09;33(9):1493-1502

University College London-Centre for Nephrology, London, UK.

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http://dx.doi.org/10.1093/ndt/gfx296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6113634PMC
September 2018

HaploForge: a comprehensive pedigree drawing and haplotype visualization web application.

Bioinformatics 2017 Dec;33(24):3871-3877

Division of Medicine, University College London, London NW3 2PF, UK.

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http://dx.doi.org/10.1093/bioinformatics/btx510DOI Listing
December 2017

Fainting Fanconi syndrome clarified by proxy: a case report.

BMC Nephrol 2017 Jul 11;18(1):230. Epub 2017 Jul 11.

Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1186/s12882-017-0649-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5504823PMC
July 2017

Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK.

BMC Nephrol 2017 Apr 18;18(1):136. Epub 2017 Apr 18.

Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.

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http://dx.doi.org/10.1186/s12882-017-0505-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395926PMC
April 2017

Erratum to: Clinical and molecular aspects of distal renal tubular acidosis in children.

Pediatr Nephrol 2017 06;32(6):1095

Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.

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http://dx.doi.org/10.1007/s00467-017-3631-6DOI Listing
June 2017

Galactosylation of IgA1 Is Associated with Common Variation in .

J Am Soc Nephrol 2017 Jul 16;28(7):2158-2166. Epub 2017 Feb 16.

Department of Infection, Immunity and Inflammation, University of Leicester, Leicester, United Kingdom.

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http://dx.doi.org/10.1681/ASN.2016091043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5491291PMC
July 2017

Clinical and molecular aspects of distal renal tubular acidosis in children.

Pediatr Nephrol 2017 06 10;32(6):987-996. Epub 2017 Feb 10.

Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.

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http://dx.doi.org/10.1007/s00467-016-3573-4DOI Listing
June 2017

Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes.

Oral Surg Oral Med Oral Pathol Oral Radiol 2017 Feb 13;123(2):229-234.e2. Epub 2016 Oct 13.

Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil.

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http://dx.doi.org/10.1016/j.oooo.2016.09.226DOI Listing
February 2017

Of dogs and men.

Eur J Hum Genet 2017 02;25(2):161

UCL Centre for Nephrology & Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1038/ejhg.2016.161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255959PMC
February 2017

Urea is successful in treating inappropriate antidiuretic hormone secretion in an infant.

Acta Paediatr 2017 Mar 4;106(3):513-515. Epub 2017 Jan 4.

Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1111/apa.13697DOI Listing
March 2017

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.

Mol Genet Genomic Med 2016 Sep 7;4(5):521-6. Epub 2016 Jun 7.

Centre for Nephrology University College London London UK.

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http://dx.doi.org/10.1002/mgg3.227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023937PMC
September 2016

Genetic, pathophysiological, and clinical aspects of nephrocalcinosis.

Am J Physiol Renal Physiol 2016 12 7;311(6):F1243-F1252. Epub 2016 Sep 7.

University College London, Centre for Nephrology, London, United Kingdom.

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http://dx.doi.org/10.1152/ajprenal.00211.2016DOI Listing
December 2016

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.

J Allergy Clin Immunol 2017 02 15;139(2):634-642.e5. Epub 2016 Jul 15.

Infection, Immunity, Inflammation and Physiological Medicine, UCL Institute of Child Health, London, United Kingdom; Department of Clinical Immunology, Great Ormond Street Hospital NHS Trust, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.05.036DOI Listing
February 2017

Renal apnoea: extreme disturbance of homoeostasis in a child with Bartter syndrome type IV.

Lancet 2016 Aug;388(10044):631-2

Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; UCL Centre for Nephrology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(16)00087-8DOI Listing
August 2016

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10.

Rare Dis 2016 1;4(1):e1195043. Epub 2016 Jun 1.

Center for Nephrology, University College London , London, UK.

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http://dx.doi.org/10.1080/21675511.2016.1195043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4961265PMC
August 2016

Genetic causes of hypomagnesemia, a clinical overview.

Pediatr Nephrol 2017 Jul 27;32(7):1123-1135. Epub 2016 May 27.

Centre for Nephrology, University College London, London, UK.

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http://dx.doi.org/10.1007/s00467-016-3416-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440500PMC
July 2017

Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy.

Cell Rep 2016 05 5;15(7):1423-1429. Epub 2016 May 5.

Institute of Functional Genomics, University of Regensburg, 93053 Regensburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.04.037DOI Listing
May 2016

Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.

Rheumatology (Oxford) 2017 02 5;56(2):209-213. Epub 2016 May 5.

National Amyloidosis Centre, Centre for Amyloidosis and Acute Phase Proteins, University College London Medical School, London, UK.

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http://dx.doi.org/10.1093/rheumatology/kew058DOI Listing
February 2017

Tolvaptan is successful in treating inappropriate antidiuretic hormone secretion in infants.

Acta Paediatr 2016 Jul 14;105(7):e334-7. Epub 2016 Apr 14.

Renal Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1111/apa.13415DOI Listing
July 2016

The use of whole-exome sequencing to disentangle complex phenotypes.

Eur J Hum Genet 2016 Feb 10;24(2):298-301. Epub 2015 Jun 10.

Centre for Translational Omics - GOSgene, UCL Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717198PMC
February 2016

STAG3 truncating variant as the cause of primary ovarian insufficiency.

Eur J Hum Genet 2016 Jan 10;24(1):135-8. Epub 2015 Jun 10.

Reproductive Medicine Unit, Institute for Women's Health, University College London Hospitals, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795223PMC
January 2016

Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.

J Clin Immunol 2015 Feb 8;35(2):147-57. Epub 2015 Feb 8.

Molecular and Cellular Immunology Section, Institute of Child Health, University College of London, London, UK,

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http://dx.doi.org/10.1007/s10875-015-0135-7DOI Listing
February 2015

Renal Fanconi syndrome: taking a proximal look at the nephron.

Nephrol Dial Transplant 2015 Sep 9;30(9):1456-60. Epub 2014 Dec 9.

Centre for Nephrology, University College London, London, UK.

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http://dx.doi.org/10.1093/ndt/gfu377DOI Listing
September 2015

The case | Renal tubular acidosis and eye findings.

Kidney Int 2014 Jul;86(1):217-8

UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1038/ki.2013.320DOI Listing
July 2014

Research capacity. Enabling the genomic revolution in Africa.

Authors:
Charles Rotimi Akin Abayomi Alash'le Abimiku Victoria May Adabayeri Clement Adebamowo Ezekiel Adebiyi Adebowale D Ademola Adebowale Adeyemo Dwomoa Adu Dissou Affolabi Godfred Agongo Samuel Ajayi Sally Akarolo-Anthony Rufus Akinyemi Albert Akpalu Marianne Alberts Orlando Alonso Betancourt Ahmed Mansour Alzohairy Gobena Ameni Olukemi Amodu Gabriel Anabwani Kristian Andersen Fatiu Arogundade Oyedunni Arulogun Danny Asogun Rasheed Bakare Naby Balde Mary Lynn Baniecki Christine Beiswanger Alia Benkahla Lara Bethke Micheal Boehnke Vincent Boima James Brandful Andrew I Brooks Frank C Brosius Chester Brown Bruno Bucheton David T Burke Barrington G Burnett Stacy Carrington-Lawrence Nadia Carstens John Chisi Alan Christoffels Richard Cooper Heather Cordell Nigel Crowther Talishiea Croxton Jantina de Vries Leslie Derr Peter Donkor Seydou Doumbia Audrey Duncanson Ivy Ekem Ahmed El Sayed Mark E Engel John C K Enyaru Dean Everett Faisal M Fadlelmola Eyitayo Fakunle Kenneth H Fischbeck Anne Fischer Onikepe Folarin Junaid Gamieldien Robert F Garry Simani Gaseitsiwe Rasheed Gbadegesin Anita Ghansah Maria Giovanni Parham Goesbeck F Xavier Gomez-Olive Donald S Grant Ravnit Grewal Mark Guyer Neil A Hanchard Christian T Happi Scott Hazelhurst Branwen J Hennig Christiane Hertz- Fowler Winston Hide Friedhelm Hilderbrandt Christopher Hugo-Hamman Muntaser E Ibrahim Regina James Yasmina Jaufeerally-Fakim Carolyn Jenkins Ute Jentsch Pan-Pan Jiang Moses Joloba Victor Jongeneel Fourie Joubert Mukthar Kader Kathleen Kahn Pontiano Kaleebu Saidi H Kapiga Samar Kamal Kassim Ishmael Kasvosve Jonathan Kayondo Bernard Keavney Adeodata Kekitiinwa Sheik Humarr Khan Paul Kimmel Mary-Claire King Robert Kleta Mathurin Koffi Jeffrey Kopp Matthias Kretzler Judit Kumuthini Samuel Kyobe Catherine Kyobutungi Daniel T Lackland Karen A Lacourciere Guida Landouré Rita Lawlor Thomas Lehner Maia Lesosky Naomi Levitt Katherine Littler Zane Lombard Jeanne F Loring Sylvester Lyantagaye Annette Macleod Ebony B Madden Chengetai R Mahomva Julie Makani Manmak Mamven Marape Marape Graeme Mardon Patricia Marshall Darren P Martin Daniel Masiga Robin Mason Michael Mate-Kole Enock Matovu Mary Mayige Bongani M Mayosi Jean Claude Mbanya Sheryl A McCurdy Mark I McCarthy Helen McIlleron S O Mc'Ligeyo Corrine Merle Ana Olga Mocumbi Charles Mondo John V Moran Ayesha Motala Marva Moxey-Mims Wata Sununguko Mpoloka Chisomo L Msefula Thuli Mthiyane Nicola Mulder Gebregziab her Mulugeta Dieuodonne Mumba John Musuku Mo Nagdee Oyekanmi Nash Daouda Ndiaye Anh Quynh Nguyen Mark Nicol Oathokwa Nkomazana Shane Norris Betty Nsangi Alexander Nyarko Moffat Nyirenda Eileen Obe Reginald Obiakor Abraham Oduro Solomon F Ofori-Acquah Okechukwu Ogah Stephen Ogendo Kwaku Ohene-Frempong Akinlolu Ojo Timothy Olanrewaju John Oli Charlotte Osafo Odile Ouwe Missi Oukem-Boyer Bruce Ovbiagele Andrew Owen Mayowa Ojo Owolabi Lukman Owolabi Ellis Owusu-Dabo Guillaume Pare Rulan Parekh Hugh G Patterton Margaret B Penno Jane Peterson Rembert Pieper Jacob Plange-Rhule Martin Pollak Julia Puzak Rajkumar S Ramesar Michele Ramsay Rebekah Rasooly Shiksha Reddy Pardis C Sabeti Kwamena Sagoe Tunde Salako Oumar Samassékou Manjinder S Sandhu Osman Sankoh Fred Stephen Sarfo Marie Sarr Gasnat Shaboodien Issa Sidibe Gustave Simo Martin Simuunza Liam Smeeth Eugene Sobngwi Himla Soodyall Hermann Sorgho Oumou Sow Bah Sudha Srinivasan Dan J Stein Ezra S Susser Carmen Swanepoel Godfred Tangwa Andrew Tareila Ozlem Tastan Bishop Bamidele Tayo Nicki Tiffin Halidou Tinto Ekaete Tobin Stephen Meir Tollman Mahamadou Traoré Marsha J Treadwell Jennifer Troyer Masego Tsimako-Johnstone Vincent Tukei Ifeoma Ulasi Nzovu Ulenga Beverley van Rooyen Ablo Prudence Wachinou Salina P Waddy Alisha Wade Misaki Wayengera James Whitworth Louise Wideroff Cheryl A Winkler Sarah Winnicki Ambroise Wonkam Mengistu Yewondwos Tadase sen Nathan Yozwiak Heather Zar

Science 2014 Jun;344(6190):1346-8

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http://dx.doi.org/10.1126/science.1251546DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4138491PMC
June 2014

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.

Am J Med Genet A 2014 Jul 3;164A(7):1777-83. Epub 2014 Apr 3.

NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.36506DOI Listing
July 2014

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.

N Engl J Med 2014 Jan;370(2):129-38

From the Centre for Nephrology (E.D.K., H.C.S., D.B., G.J., H.C., A.M.H., R.J.U., R.K.) and Institute of Child Health (D.B., R.K.), University College London, and Biomolecular Medicine, Imperial College London (S.L.R., A.D.W., E.H., J.K.N.) - both in London; the Departments of Medical Cell Biology (M.R., C.B., D.P., C.S., R. Warth), Internal Medicine III (K.R.), Internal Medicine II (S.W.R.), and Molecular and Cellular Anatomy (R. Witzgall) and the Institutes of Functional Genomics (J.R., K.E., N.A., P.J.O., K.D.) and Pathology (J.S.), University of Regensburg, and the Department of Radiology, Barmherzige Brueder Hospital (N.Z.) - all in Regensburg, Germany; the National Human Genome Research Institute (A.H.-W., S.L.R., H.C.S., K.O., I.B., D.M.K., W.A.G., R.K.) and National Heart, Lung, and Blood Institute (Y.I.), National Institutes of Health, Bethesda, MD; the Division of Pediatric Nephrology, University of Florida, Jacksonville (A.T., M.I.); the Genome Biology Department, Australian National University, Canberra, ACT, Australia (M.A.-B.); Kitasato University Medical Center, Saitama, Japan (H.N.); and the Department of Pathology, Northwestern University, Chicago (Y.J., J.K.R.).

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http://dx.doi.org/10.1056/NEJMoa1307581DOI Listing
January 2014

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

Lancet 2014 Jan;383(9911):98

UCL Centre for Nephrology, University College London, Rowland Hill Street, London, UK. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(13)62673-2DOI Listing
January 2014

Epilepsy in kcnj10 morphant zebrafish assessed with a novel method for long-term EEG recordings.

PLoS One 2013 14;8(11):e79765. Epub 2013 Nov 14.

Department of Neuroscience, Physiology and Pharmacology, University College London, London, United Kingdom ; Centre for Nephrology, University College London, London, United Kingdom.

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http://discovery.ucl.ac.uk/1415812/1/journal.pone.0079765.pd
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http://dx.plos.org/10.1371/journal.pone.0079765
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0079765PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3828195PMC
November 2014

Consanguinity in Saudi Arabia: a unique opportunity for pediatric kidney research.

Am J Kidney Dis 2014 Feb 13;63(2):304-10. Epub 2013 Nov 13.

Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1053/j.ajkd.2013.08.033DOI Listing
February 2014

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Nephron Physiol 2012 23;122(1-2):1-6. Epub 2013 Feb 23.

Centre for Nephrology, University College London, London, UK.

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http://dx.doi.org/10.1159/000349989DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782194PMC
October 2013

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

Ann Neurol 2013 Apr 19;73(4):546-53. Epub 2013 Feb 19.

Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.

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http://dx.doi.org/10.1002/ana.23832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698699PMC
April 2013

ATP and arterial calcification.

Eur J Clin Invest 2013 Apr 10;43(4):405-12. Epub 2013 Feb 10.

UCL Centre for Nephrology, UCL Medical School, London, UK.

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http://dx.doi.org/10.1111/eci.12055DOI Listing
April 2013

SwiftLink: parallel MCMC linkage analysis using multicore CPU and GPU.

Bioinformatics 2013 Feb 13;29(4):413-9. Epub 2012 Dec 13.

Division of Medicine, University College London, London WC1E 6BT, UK, Institute of Biotechnology, University of Helsinki, Helsinki 00014, Finland.

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http://dx.doi.org/10.1093/bioinformatics/bts704DOI Listing
February 2013

Filtering the genes and sorting the glomerular filter: a new piece in the puzzle?

Nephrol Dial Transplant 2011 Sep;26(9):2743-5

Centre for Nephrology, University College London, London, UK.

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http://dx.doi.org/10.1093/ndt/gfr437DOI Listing
September 2011

KCNJ10 mutations disrupt function in patients with EAST syndrome.

Nephron Physiol 2011 18;119(3):p40-8. Epub 2011 Aug 18.

Centre for Nephrology, University College London, Royal Free Hospital, London, UK.

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http://dx.doi.org/10.1159/000330250DOI Listing
April 2014

Genetic testing in renal disease.

Pediatr Nephrol 2012 Jun 27;27(6):873-83. Epub 2011 May 27.

Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1007/s00467-011-1865-2DOI Listing
June 2012

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

Pediatr Nephrol 2011 Oct 8;26(10):1857-61. Epub 2011 May 8.

Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London, WC1N 3JH, UK.

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http://dx.doi.org/10.1007/s00467-011-1891-0DOI Listing
October 2011

A patient with polyuria and hydronephrosis: question.

Pediatr Nephrol 2011 Nov 8;26(11):1977-8, 1979-80. Epub 2011 Feb 8.

Centre for Nephrology, Royal Free Hospital, University College London, London, UK.

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http://dx.doi.org/10.1007/s00467-011-1780-6DOI Listing
November 2011

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.

J Physiol 2011 Apr 7;589(Pt 7):1681-9. Epub 2011 Feb 7.

The Tony Kriss Visual Electrophysiology Unit, Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital/University College London, London WC1 N3JH, UK.

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http://dx.doi.org/10.1113/jphysiol.2010.198531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3099023PMC
April 2011

The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.

Pflugers Arch 2011 Apr 11;461(4):423-35. Epub 2011 Jan 11.

Medical Cell Biology, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1007/s00424-010-0915-0DOI Listing
April 2011

Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility.

Am J Med Genet B Neuropsychiatr Genet 2011 Jan 12;156B(1):11-8. Epub 2010 Nov 12.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-3717, USA.

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http://dx.doi.org/10.1002/ajmg.b.31141DOI Listing
January 2011

New clues for nephrotoxicity induced by ifosfamide: preferential renal uptake via the human organic cation transporter 2.

Mol Pharm 2011 Feb 2;8(1):270-9. Epub 2010 Dec 2.

Medizinische Klinik und Poliklinik D, Experimentelle Nephrologie, Universitätsklinikum Münster, Münster, Germany.

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http://dx.doi.org/10.1021/mp100329uDOI Listing
February 2011