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Robert Kleta
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Network (preview)
24
Gahl, William
9
Schlatter, Eberhard
8
Bernardini, Isa
7
Anikster, Yair
6
Huizing, Marjan
5
Bockenhauer, Detlef
4
Krasnewich, Donna
4
Helip-Wooley, Amanda
4
Stuart, Caroline
3
Skovby, Flemming
3
Westbroek, Wendy
3
Kuwertz-Bröking, Eberhard
3
Orvisky, Eduard
3
Hirsch, Jochen
2
Ingelfinger, Julie
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Geonetwork of Robert Kleta (preview)
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All Publications
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2009: 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; Knepper Mark A; Dobbie Angus; Gahl William A; Warth Richard; Sheridan Eamonn; Kleta Robert
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
The New England journal of medicine 2009;360(19):1960-70.
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2009: Bockenhauer Detlef; Hug Martin J; Kleta Robert
Cystic fibrosis, aminoglycoside treatment and acute renal failure: the not so gentle micin.
Pediatric nephrology (Berlin, Germany) 2009;24(5):925-8.
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2009: Camargo Simone M R; Singer Dustin; Makrides Victoria; Huggel Katja; Pos Klaas M; Wagner Carsten A; Kuba Keiji; Danilczyk Ursula; Skovby Flemming; Kleta Robert; Penninger Josef M; Verrey François
Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.
Gastroenterology 2009;136(3):872-82.
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2009: Gonzales Patricia A; Pisitkun Trairak; Hoffert Jason D; Tchapyjnikov Dmitry; Star Robert A; Kleta Robert; Wang Nam Sun; Knepper Mark A
Large-scale proteomics and phosphoproteomics of urinary exosomes.
Journal of the American Society of Nephrology : JASN 2009;20(2):363-79.
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2009: Clark Jason A; Turner Maria L; Howard Lillian; Stanescu Horia; Kleta Robert; Kopp Jeffrey B
Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity.
BMC dermatology 2009;9():8.
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2008: Kleta Robert
Fanconi or not Fanconi? Lowe syndrome revisited.
Clinical journal of the American Society of Nephrology : CJASN 2008;3(5):1244-5.
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2008: Westbroek Wendy; Tuchman Maya; Tinloy Bradford; De Wever Olivier; Vilboux Thierry; Hertz Jens M; Hasle Henrik; Heilmann Carsten; Helip-Wooley Amanda; Kleta Robert; Gahl William A
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.
Molecular genetics and metabolism 2008;94(2):248-54.
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2008: Bockenhauer Detlef; Debiec Hanna; Sebire Neil; Barratt Martin; Warwicker Paul; Ronco Pierre; Kleta Robert
Familial membranous nephropathy: an X-linked genetic susceptibility?
Nephron. Clinical practice 2008;108(1):c10-5.
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2007: Westbroek Wendy; Adams David; Huizing Marjan; Koshoffer Amy; Dorward Heidi; Tinloy Bradford; Parkes Jennifer; Helip-Wooley Amanda; Kleta Robert; Tsilou Ekaterina; Duvernay Patrice; Digre Kathleen B; Creel Donnell J; White James G; Boissy Raymond E; Gahl William A
Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype.
The Journal of investigative dermatology 2007;127(11):2674-7.
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2007: Gahl William A; Balog Joan Z; Kleta Robert
Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy.
Annals of internal medicine 2007;147(4):242-50.
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2007: Crisponi Laura; Crisponi Giangiorgio; Meloni Alessandra; Toliat Mohammad Reza; Nurnberg Gudrun; Usala Gianluca; Uda Manuela; Masala Marco; Hohne Wolfgang; Becker Christian; Marongiu Mara; Chiappe Francesca; Kleta Robert; Rauch Anita; Wollnik Bernd; Strasser Friedrich; Reese Thomas; Jakobs Cornelis; Kurlemann Gerd; Cao Antonio; Nurnberg Peter; Rutsch Frank
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.
American journal of human genetics 2007;80(5):971-81.
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2007: Kleta Robert; Gahl William A
Collecting evidence: the case of collectrin (Tmem27) and amino acid transport.
American journal of physiology. Renal physiology 2007;292(2):F531-2.
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2006: Gunay-Aygun Meral; Avner Ellis D; Bacallao Robert L; Choyke Peter L; Flynn Joseph T; Germino Gregory G; Guay-Woodford Lisa; Harris Peter; Heller Theo; Ingelfinger Julie; Kaskel Frederick; Kleta Robert; LaRusso Nicholas F; Mohan Parvathi; Pazour Gregory J; Shneider Benjamin L; Torres Vicente E; Wilson Patricia; Zak Colleen; Zhou Jing; Gahl William A
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference.
The Journal of pediatrics 2006;149(2):159-64.
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2006: Kleta Robert
A deeper look into cysteamine absorption for the treatment of cystinosis.
The Journal of pediatrics 2006;148(6):718-9.
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2006: Ueda Masako; O'Brien Kevin; Rosing Douglas R; Ling Alexander; Kleta Robert; McAreavey Dorothea; Bernardini Isa; Gahl William A
Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation.
Clinical journal of the American Society of Nephrology : CJASN 2006;1(3):555-62.
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2006: Kleta Robert
A key stone cop regulates oxalate homeostasis.
Nature genetics 2006;38(4):403-4.
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2006: O'Brien Kevin; Hussain Nadeem; Warady Bradley A; Kleiner David E; Kleta Robert; Bernardini Isa; Heller Theo; Gahl William A
Nodular regenerative hyperplasia and severe portal hypertension in cystinosis.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2006;4(3):387-94.
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2006: Lotan Danny; Eisenkraft Arik; Jacobsson Jeffrey M; Bar-Yosef Omer; Kleta Robert; Gal Nurit; Raviv-Zilka Lisa; Gore Hagar; Anikster Yair
Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome.
Pediatric nephrology (Berlin, Germany) 2006;21(3):423-6.
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2006: Kleta Robert; Bockenhauer Detlef
Bartter syndromes and other salt-losing tubulopathies.
Nephron. Physiology 2006;104(2):p73-80.
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2005: Morse Richard P; Kleta Robert; Alroy Joseph; Gahl William A
Novel form of intermediate salla disease: clinical and neuroimaging features.
Journal of child neurology 2005;20(10):814-6.
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2005: Brooks B P; Kleta R; Stuart C; Tuchman M; Jeong A; Stergiopoulos S G; Bei T; Bjornson B; Russell L; Chanoine J-P; Tsagarakis S; Kalsner Lr; Stratakis Ca
Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005.
Clinical genetics 2005;68(3):215-21.
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2005: Zarzour Wafika; Kleta Robert; Frangoul Haydar; Suwannarat Pim; Jeong Anna; Kim Su Young; Wayne Alan S; Gunay-Aygun Meral; White James; Filipovich Alexandra H; Gahl William A
Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome.
Molecular genetics and metabolism 2005;85(2):125-32.
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2005: Sonies Barbara C; Almajid Phaedra; Kleta Robert; Bernardini Isa; Gahl William A
Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy.
Medicine 2005;84(3):137-46.
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2005: Kleta Robert; Kaskel Frederick; Dohil Ranjan; Goodyer Paul; Guay-Woodford Lisa M; Harms Erik; Ingelfinger Julie R; Koch Vera H; Langman Craig B; Leonard Mary B; Mannon Roslyn B; Sarwal Minnie; Schneider Jerry A; Skovby Flemming; Sonies Barbara C; Thoene Jess G; Trauner Doris A; Gahl William A;
First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.
Pediatric nephrology (Berlin, Germany) 2005;20(4):452-4.
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2004: Kleta Robert; O'Brien Kevin
Aldosterone revisited.
The New England journal of medicine 2004;351(20):2131-3; author reply 2131-3.
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2004: Kleta Robert; Gahl William A
Pharmacological treatment of nephropathic cystinosis with cysteamine.
Expert opinion on pharmacotherapy 2004;5(11):2255-62.
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2004: Bendavid Claude; Kleta Robert; Long Robert; Ouspenskaia Maia; Muenke Maximilian; Haddad Bassem R; Gahl William A
FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis.
Human genetics 2004;115(6):510-4.
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2004: Kleta Robert; Bernardini Isa; Ueda Masako; Varade William S; Phornphutkul Chanika; Krasnewich Donna; Gahl William A
Long-term follow-up of well-treated nephropathic cystinosis patients.
The Journal of pediatrics 2004;145(4):555-60.
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2004: Westbroek Wendy; Lambert Jo; De Schepper Sofie; Kleta Robert; Van Den Bossche Karolien; Seabra Miguel C; Huizing Marjan; Mommaas Mieke; Naeyaert Jean Marie
Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society 2004;17(5):498-505.
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2004: Huizing Marjan; Hess Richard; Dorward Heidi; Claassen David A; Helip-Wooley Amanda; Kleta Robert; Kaiser-Kupfer Muriel I; White James G; Gahl William A
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.
Traffic (Copenhagen, Denmark) 2004;5(9):711-22.
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2004: Kleta Robert; Romeo Elisa; Ristic Zorica; Ohura Toshihiro; Stuart Caroline; Arcos-Burgos Mauricio; Dave Mital H; Wagner Carsten A; Camargo Simone R M; Inoue Sumiko; Matsuura Norio; Helip-Wooley Amanda; Bockenhauer Detlef; Warth Richard; Bernardini Isa; Visser Gepke; Eggermann Thomas; Lee Philip; Chairoungdua Arthit; Jutabha Promsuk; Babu Ellappan; Nilwarangkoon Sirinun; Anzai Naohiko; Kanai Yoshikatsu; Verrey Francois; Gahl William A; Koizumi Akio
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
Nature genetics 2004;36(9):999-1002.
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2004: Kleta Robert; Morse Richard P; Orvisky Eduard; Krasnewich Donna; Alroy Joseph; Ucci Angelo A; Bernardini Isa; Wenger David A; Gahl William A
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.
Molecular genetics and metabolism 2004;82(2):137-43.
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2004: Kleta Robert; Stuart Caroline; Gill Fred A; Gahl William A
Renal glucosuria due to SGLT2 mutations.
Molecular genetics and metabolism 2004;82(1):56-8.
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2004: Kleta Robert; Blair Scott C; Bernardini Isa; Kaiser-Kupfer Muriel I; Gahl William A
Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosis.
Mayo Clinic proceedings. Mayo Clinic 2004;79(3):410-2.
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2004: Brooks Brian P; Kleta Robert; Caruso Rafael C; Stuart Caroline; Ludlow Jonathan; Stratakis Constantine A
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.
BMC ophthalmology 2004;4():7.
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2003: Kleta Robert; Aughton David J; Rivkin Michael J; Huizing Marjan; Strovel Erin; Anikster Yair; Orvisky Eduard; Natowicz Marvin; Krasnewich Donna; Gahl William A
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
American journal of medical genetics. Part A 2003;120A(1):28-33.
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2003: Martin Rick A; Slaugh Rachel; Natowicz Marvin; Pearlman Kayla; Orvisky Eduard; Krasnewich Donna; Kleta Robert; Huizing Marjan; Gahl William A
Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.
American journal of medical genetics. Part A 2003;120A(1):23-7.
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2002: Ben-Zeev Bruria; Levy-Nissenbaum Etgar; Lahat Hadas; Anikster Yair; Shinar Yael; Brand Nathan; Gross-Tzur Varda; MacGregor Daune; Sidi Roy; Kleta Robert; Frydman Moshe; Pras Elon
Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.
Human genetics 2002;111(2):214-8.
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2002: Kleta Robert; Gahl William A
Cystinosis: antibodies and healthy bodies.
Journal of the American Society of Nephrology : JASN 2002;13(8):2189-91.
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2002: Cetinkaya Ibrahim; Schlatter Eberhard; Hirsch Jochen R; Herter Peter; Harms Erik; Kleta Robert
Inhibition of Na(+)-dependent transporters in cystine-loaded human renal cells: electrophysiological studies on the Fanconi syndrome of cystinosis.
Journal of the American Society of Nephrology : JASN 2002;13(8):2085-93.
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2002: Kleta Robert; Skovby Flemming; Christensen Ernst; Rosenberg Thomas; Gahl William A; Anikster Yair
3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.
Molecular genetics and metabolism 2002;76(3):201-6.
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2001: Anikster Y; Kleta R; Shaag A; Gahl W A; Elpeleg O
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.
American journal of human genetics 2001;69(6):1218-24.
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2001: Kleta R; Anikster Y; Lucero C; Shotelersuk V; Huizing M; Bernardini I; Park M; Thoene J; Schneider J; Gahl W A
CTNS mutations in African American patients with cystinosis.
Molecular genetics and metabolism 2001;74(3):332-7.
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2001: Kuwertz-Bröking E; Fründ S; Bulla M; Kleta R; August C; Kisters K
Familial hypomagnesemia-hypercalciuria in 2 siblings.
Clinical nephrology 2001;56(2):155-61.
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2000: Kleta R; Fründ S; Kuwertz-Bröking E; Bulla M
Intraperitoneal application of low-molecular-weight heparin in continuous ambulatory peritoneal dialysis in a child.
Nephron 2000;86(4):545.
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2000: Kleta R; Basoglu C; Kuwertz-Bröking E
New treatment options for Bartter's syndrome.
The New England journal of medicine 2000;343(9):661-2.
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2000: Denecke J; Zimmer K P; Kleta R; Koch H G; Rabe H; August C; Harms E
[Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome: case report and review of the literature]
Klinische Pädiatrie 2000;212(2):77-80.
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1999: Schleef J; Wagner A; Kleta R; Schaarschmidt K; Dockhorn-Dworniczak B; Willital G; Jürgens H
Small-cell carcinoma of the ovary of the hypercalcemic type in an 8-year-old girl.
Pediatric surgery international 1999;15(5-6):431-4.
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1999: Rossi R; Pleyer J; Schäfers P; Kuhn N; Kleta R; Deufel T; Jürgens H
Development of ifosfamide-induced nephrotoxicity: prospective follow-up in 75 patients.
Medical and pediatric oncology 1999;32(3):177-82.
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1999: Kleta R; Burckhardt B C; Wolff N A; Schlatter E
Unexpected electrophysiological effects of D-19575, a new cytostatic drug.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1999;14 Suppl 4():18-20.
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1998: Kleta R; Schleef J; Jürgens H
Tissue plasminogen activator and obstructed central venous catheters.
Medical and pediatric oncology 1998;30(6):376.
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1997: Hirsch J R; Cermak R; Forssmann W G; Kleta R; Kruhøffer M; Kuhn M; Schafer J A; Sun D; Schlatter E
Effects of sodium nitroprusside in the rat cortical collecting duct are independent of the NO pathway.
Kidney international 1997;51(2):473-6.
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1996: Schlatter E; Cermak R; Forssmann W G; Hirsch J R; Kleta R; Kuhn M; Sun D; Schafer J A
cGMP-activating peptides do not regulate electrogenic electrolyte transport in principal cells of rat CCD.
The American journal of physiology 1996;271(6 Pt 2):F1158-65.
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1996: Cermak R; Kleta R; Forssmann W G; Schlatter E
Natriuretic peptides increase a K+ conductance in rat mesangial cells.
Pflügers Archiv : European journal of physiology 1996;431(4):571-7.
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1995: Schlatter E; Haxelmans S; Ankorina I; Kleta R
Regulation of Na+/H+ exchange by diadenosine polyphosphates, angiotensin II, and vasopressin in rat cortical collecting duct.
Journal of the American Society of Nephrology : JASN 1995;6(4):1223-9.
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1995: Schlatter E; Ankorina I; Haxelmans S; Kleta R
Effects of diadenosine polyphosphates, ATP and angiotensin II on cytosolic Ca2+ activity and contraction of rat mesangial cells.
Pflügers Archiv : European journal of physiology 1995;430(5):721-8.
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1995: Kleta R; Hirsch J; Heidenreich S; Schlüter H; Zidek W; Schlatter E
Effects of diadenosine polyphosphates, ATP and angiotensin II on membrane voltage and membrane conductances of rat mesangial cells.
Pflügers Archiv : European journal of physiology 1995;430(5):713-20.
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1995: Kleta R; Mohrmann M; Schlatter E
Effects of cell differentiation on ion conductances and membrane voltage in LLC-PK1 cells.
Pflügers Archiv : European journal of physiology 1995;429(3):370-7.
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