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1

Triple-A syndrome with prominent ophthalmic features and a novel mutation in theAAASgene: a case report

Brian P Brooks, Robert Kleta, Rafael C Caruso, Caroline Stuart, Jonathan Ludlow, Constantine A Stratakis

Journal:

BMC Ophthalmology

Year:

2004

Language:

english

File:

PDF, 1.22 MB

english, 2004

2

Development of ifosfamide-induced nephrotoxicity: prospective follow-up in 75 patients

Rossi, Rainer, Pleyer, Julia, Sch�fers, Petra, Kuhn, Nanna, Kleta, Robert, Deufel, Thomas, J�rgens, Heribert

Journal:

Medical and Pediatric Oncology

Year:

1999

Language:

english

File:

PDF, 127 KB

english, 1999

3

Tissue-Specific Amino Acid Transporter Partners ACE2 and Collectrin Differentially Interact With Hartnup Mutations

Simone M.R. Camargo, Dustin Singer, Victoria Makrides, Katja Huggel, Klaas M. Pos, Carsten A. Wagner, Keiji Kuba, Ursula Danilczyk, Flemming Skovby, Robert Kleta, Josef M. Penninger, François Verrey

Journal:

Gastroenterology

Year:

2009

Language:

english

File:

PDF, 2.64 MB

english, 2009

4

ATP and arterial calcification

Fish, Richard S., Klootwijk, Enriko, Tam, Frederick W. K., Kleta, Robert, Wheeler, David C., Unwin, Robert J., Norman, Jill

Journal:

European Journal of Clinical Investigation

Year:

2013

Language:

english

File:

PDF, 189 KB

english, 2013

5

Genetic causes of hypomagnesemia, a clinical overview

Viering, Daan H. H. M, de Baaij, Jeroen H. F., Walsh, Stephen B., Kleta, Robert, Bockenhauer, Detlef

Journal:

Pediatric Nephrology

Year:

2017

Language:

english

File:

PDF, 969 KB

english, 2017

6

TRNT1 deficiency: clinical, biochemical and molecular genetic features

Wedatilake, Yehani, Niazi, Rojeen, Fassone, Elisa, Powell, Christopher A., Pearce, Sarah, Plagnol, Vincent, Saldanha, José W., Kleta, Robert, Chong, W Kling, Footitt, Emma, Mills, Philippa B., Taanman

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 2.01 MB

english, 2016

7

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

Le Quesne Stabej, Polona, James, Chela, Ocaka, Louise, Tekman, Mehmet, Grunewald, Stephanie, Clement, Emma, Stanescu, Horia C., Kleta, Robert, Morrogh, Deborah, Calder, Alistair, Williams, Hywel J., B

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 1.45 MB

english, 2017

8

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

Mozere, Monika, Tekman, Mehmet, Kari, Jameela, Bockenhauer, Detlef, Kleta, Robert, Stanescu, Horia

Journal:

BMC Bioinformatics

Year:

2018

Language:

english

File:

PDF, 1.38 MB

english, 2018

9

Tissue plasminogen activator and obstructed central venous catheters

Kleta, Robert, Schleef, Jürgen, Jürgens, Heribert

Journal:

Medical and Pediatric Oncology

Year:

1998

Language:

english

File:

PDF, 19 KB

english, 1998

10

Recurrence of SIADH after a high-dose regimen of thiotepa, carboplatin, and etoposide phosphate

Kleta, Robert, Wagner, Alexandra, Jürgens, Heribert

Journal:

Medical and Pediatric Oncology

Year:

1998

Language:

english

File:

PDF, 39 KB

english, 1998

11

Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs

Rick A. Martin, Rachel Slaugh, Marvin Natowicz, Kayla Pearlman, Eduard Orvisky, Donna Krasnewich, Robert Kleta, Marjan Huizing, William A. Gahl

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 159 KB

english, 2003

12

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children

Robert Kleta, David J. Aughton, Michael J. Rivkin, Marjan Huizing, Erin Strovel, Yair Anikster, Eduard Orvisky, Marvin Natowicz, Donna Krasnewich, William A. Gahl

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 220 KB

english, 2003

13

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

Sabina Domené, Horia Stanescu, Deeann Wallis, Bradford Tinloy, Daniel E. Pineda, Robert Kleta, Mauricio Arcos-Burgos, Erich Roessler, Maximilian Muenke

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2011

Language:

english

File:

PDF, 2.10 MB

english, 2011

14

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria

Thierry Vilboux, Michael Kayser, Wendy Introne, Pim Suwannarat, Isa Bernardini, Roxanne Fischer, Kevin O'Brien, Robert Kleta, Marjan Huizing, William A. Gahl

Journal:

Year:

2009

Language:

english

File:

PDF, 234 KB

english, 2009

15

Cyclophosphamide and mercaptoethane sulfonate therapy for minimal lesion glomerulonephritis

Journal:

Kidney International

Year:

1999

Language:

english

File:

PDF, 91 KB

english, 1999

16

Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity

Jason A Clark, Maria L Turner, Lillian Howard, Horia Stanescu, Robert Kleta, Jeffrey B Kopp

Journal:

BMC Dermatology

Year:

2009

Language:

english

File:

PDF, 1.06 MB

english, 2009

17

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

Sascha Bandulik, Katharina Schmidt, Detlef Bockenhauer, Anselm A. Zdebik, Evelyn Humberg, Robert Kleta, Richard Warth, Markus Reichold

Journal:

Pflügers Archiv European Journal of Physiology

Year:

2011

Language:

english

File:

PDF, 543 KB

english, 2011

18

Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews

Bruria Ben-Zeev, Etgar Levy-Nissenbaum, Hadas Lahat, Yair Anikster, Yael Shinar, Nathan Brand, Varda Gross-Tzur, Daune MacGregor, Roy Sidi, Robert Kleta, Moshe Frydman, Elon Pras

Journal:

Year:

2002

Language:

english

File:

PDF, 96 KB

english, 2002

19

FISH diagnosis of the common 57-kb deletion inCTNScausing cystinosis

Claude Bendavid, Robert Kleta, Robert Long, Maia Ouspenskaia, Maximilian Muenke, Bassem R. Haddad, William A. Gahl

Journal:

Year:

2004

Language:

english

File:

PDF, 129 KB

english, 2004

20

First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future

Robert Kleta, Frederick Kaskel, Ranjan Dohil, Paul Goodyer, Lisa M. Guay-Woodford, Erik Harms, Julie R. Ingelfinger, Vera H. Koch, Craig B. Langman, Mary B. Leonard, Roslyn B. Mannon, Minnie Sarwal, J

Journal:

Pediatric Nephrology

Year:

2005

Language:

english

File:

PDF, 82 KB

english, 2005

21

Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome

Danny Lotan, Arik Eisenkraft, Jeffrey M. Jacobsson, Omer Bar-Yosef, Robert Kleta, Nurit Gal, Lisa Raviv-Zilka, Hagar Gore, Yair Anikster

Journal:

Pediatric Nephrology

Year:

2006

Language:

english

File:

PDF, 228 KB

english, 2006

22

Cystic fibrosis, aminoglycoside treatment and acute renal failure: the not so gentle micin

Detlef Bockenhauer, Martin J. Hug, Robert Kleta

Journal:

Pediatric Nephrology

Year:

2009

Language:

english

File:

PDF, 92 KB

english, 2009

23

A patient with polyuria and hydronephrosis: question

Graciana Jaureguiberry, William van’t Hoff, Imran Mushtaq, Divyesh Desai, Nicholas P. Mann, Robert Kleta, Daniel G. Bichet, Detlef Bockenhauer

Journal:

Pediatric Nephrology

Year:

2011

Language:

english

File:

PDF, 94 KB

english, 2011

24

A patient with polyuria and hydronephrosis: answer

Graciana Jaureguiberry, William van’t Hoff, Imran Mushtaq, Divyesh Desai, Nicholas P. Mann, Robert Kleta, Daniel G. Bichet, Detlef Bockenhauer

Journal:

Pediatric Nephrology

Year:

2011

Language:

english

File:

PDF, 61 KB

english, 2011

25

Renal FMD may not confer a familial hypertensive risk nor is it caused byACTA2mutations

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

Journal:

Pediatric Nephrology

Year:

2011

Language:

english

File:

PDF, 146 KB

english, 2011

26

Genetic basis of cystinosis in Turkish patients: a single-center experience

Rezan Topaloglu, Thierry Vilboux, Turgay Coskun, Fatih Ozaltin, Brad Tinloy, Meral Gunay-Aygun, Aysin Bakkaloglu, Nesrin Besbas, Lambert van den Heuvel, Robert Kleta, William A. Gahl

Journal:

Pediatric Nephrology

Year:

2012

Language:

english

File:

PDF, 424 KB

english, 2012

27

Renal involvement in children with malignancies

R. Rossi, Robert Kleta, Jochen H. H. Ehrich

Journal:

Pediatric Nephrology

Year:

1999

Language:

english

File:

PDF, 88 KB

english, 1999

28

Rab27b is Up-Regulated in Human Griscelli Syndrome Type II Melanocytes and Linked to the Actin Cytoskeleton via Exon F-Myosin Va Transcripts

Wendy Westbroek, Jo Lambert, Sofie De Schepper, Robert Kleta, Karolien Van Den Bossche, Miguel C. Seabra, Marjan Huizing, Mieke Mommaas, Jean Marie Naeyaert

Journal:

Pigment Cell & Melanoma Research

Year:

2004

Language:

english

File:

PDF, 223 KB

english, 2004

29

Cellular, Molecular and Clinical Characterization of Patients with Hermansky–Pudlak Syndrome Type 5

Marjan Huizing, Richard Hess, Heidi Dorward, David A. Claassen, Amanda Helip-Wooley, Robert Kleta, Muriel I. Kaiser-Kupfer, James G. White, William A. Gahl

Journal:

Year:

2004

Language:

english

File:

PDF, 7.89 MB

english, 2004

30

Effects of sodium nitroprusside in the rat cortical collecting duct are independent of the NO pathway

Hirsch, Jochen R, Cermak, Rainer, Forssmann, Wolf-Georg, Kleta, Robert, Kruhøffer, Mogens, Kuhn, Michaela, Schafer, James A, Sun, Duo, Schlatter, Eberhard

Journal:

Kidney International

Year:

1997

Language:

english

File:

PDF, 336 KB

english, 1997

31

A key stone cop regulates oxalate homeostasis

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 379 KB

english, 2006

32

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

Romeo, Elisa, Ristic, Zorica, Ohura, Toshihiro, Stuart, Caroline, Arcos-Burgos, Mauricio, Dave, Mital H, Wagner, Carsten A, Camargo, Simone R M, Inoue, Sumiko, Kleta, Robert

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 361 KB

english, 2004

33

Cellular Defects in Chediak–Higashi Syndrome Correlate with the Molecular Genotype and Clinical Phenotype

Westbroek, Wendy, Adams, David, Huizing, Marjan, Koshoffer, Amy, Dorward, Heidi, Tinloy, Bradford, Parkes, Jennifer, Helip-Wooley, Amanda, Kleta, Robert, Tsilou, Ekaterina

Journal:

The Journal of Investigative Dermatology

Year:

2007

Language:

english

File:

PDF, 180 KB

english, 2007

34

Genetic testing in renal disease

Detlef Bockenhauer, Alan J. Medlar, Emma Ashton, Robert Kleta, Nick Lench

Journal:

Pediatric Nephrology

Year:

2012

Language:

english

File:

PDF, 188 KB

english, 2012

35

CTNS Mutations in African American Patients with Cystinosis

Robert Kleta, Yair Anikster, Cynthia Lucero, Vorasuk Shotelersuk, Marjan Huizing, Isa Bernardini, Margaret Park, Jess Thoene, Jerry Schneider, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 282 KB

english, 2001

36

Long-term follow-up of well-treated nephropathic cystinosis patients

Robert Kleta, Isa Bernardini, Masako Ueda, William S. Varade, Chanika Phornphutkul, Donna Krasnewich, William A. Gahl

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 647 KB

english, 2004

37

A deeper look into cysteamine absorption for the treatment of cystinosis

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 60 KB

english, 2006

38

Renal glucosuria due to SGLT2 mutations

Robert Kleta, Caroline Stuart, Fred A Gill, William A Gahl

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 212 KB

english, 2004

39

Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity

Robert Kleta, Richard P Morse, Eduard Orvisky, Donna Krasnewich, Joseph Alroy, Angelo A Ucci, Isa Bernardini, David A Wenger, William A Gahl

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 580 KB

english, 2004

40

Two novel CHS1 (LYST) mutations: Clinical correlations in an infant with Chediak–Higashi syndrome

Wafika Zarzour, Robert Kleta, Haydar Frangoul, Pim Suwannarat, Anna Jeong, Su Young Kim, Alan S. Wayne, Meral Gunay-Aygun, James White, Alexandra H. Filipovich, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 1.31 MB

english, 2005

41

A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome

Wendy Westbroek, Maya Tuchman, Bradford Tinloy, Olivier De Wever, Thierry Vilboux, Jens M. Hertz, Henrik Hasle, Carsten Heilmann, Amanda Helip-Wooley, Robert Kleta, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.63 MB

english, 2008

42

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria

Marjan Huizing, Heidi Dorward, Lien Ly, Enriko Klootwijk, Robert Kleta, Flemming Skovby, Wuhong Pei, Benjamin Feldman, William A. Gahl, Yair Anikster

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 2.53 MB

english, 2010

43

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings

Robert Kleta, Flemming Skovby, Ernst Christensen, Thomas Rosenberg, William A Gahl, Yair Anikster

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 452 KB

english, 2002

44

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

Yair Anikster, Robert Kleta, Avraham Shaag, William A. Gahl, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 123 KB

english, 2001

45

Consanguinity in Saudi Arabia: A Unique Opportunity for Pediatric Kidney Research

Kari, Jameela A., Bockenhauer, Detlef, Stanescu, Horia, Gari, Mamdooh, Kleta, Robert, Singh, Ajay K.

Journal:

American Journal of Kidney Diseases

Year:

2014

Language:

english

File:

PDF, 416 KB

english, 2014

46

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

Drury, Suzanne, Boustred, Christopher, Tekman, Mehmet, Stanescu, Horia, Kleta, Robert, Lench, Nicholas, Chitty, Lyn S., Scott, Richard H.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 137 KB

english, 2014

47

Nodular Regenerative Hyperplasia and Severe Portal Hypertension in Cystinosis

O’Brien, Kevin, Hussain, Nadeem, Warady, Bradley A., Kleiner, David E., Kleta, Robert, Bernardini, Isa, Heller, Theo, Gahl, William A.

Journal:

Clinical Gastroenterology and Hepatology

Year:

2006

Language:

english

File:

PDF, 471 KB

english, 2006

48

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

Nadarajah, Luxme, Khosravi, Maryam, Dumitriu, Simona, Klootwijk, Enriko, Kleta, Robert, Yaqoob, Muhammad M, Walsh, Stephen B

Journal:

Year:

2014

Language:

english

File:

PDF, 288 KB

english, 2014

49

Keratopathy of Multiple Myeloma Masquerading as Corneal Crystals of Ocular Cystinosis

Kleta, Robert, Blair, Scott C., Bernardini, Isa, Kaiser-Kupfer, Muriel I., Gahl, William A.

Journal:

Mayo Clinic Proceedings

Year:

2004

Language:

english

File:

PDF, 76 KB

english, 2004

50

The Case | Renal tubular acidosis and eye findings

Kari, Jameela A, El Desoky, Sherif M, Singh, Ajay K, Gari, Mamdooh A, Kleta, Robert, Bockenhauer, Detlef

Journal:

Kidney International

Year:

2014

Language:

english

File:

PDF, 356 KB

english, 2014