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51

Variable Phenotype of Severe Immunodeficiencies Associated withRMRPGene Mutations

Ip, Winnie, Gaspar, H. Bobby, Kleta, Robert, Chanudet, Estelle, Bacchelli, Chiara, Pitts, Alison, Nademi, Zohreh, Davies, E. Graham, Slatter, Mary A., Amrolia, Persis, Rao, Kanchan, Veys, Paul, Genner

Journal:

Journal of Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 210 KB

english, 2015

52

Bartter Syndromes and Other Salt-Losing Tubulopathies

Kleta, Robert, Bockenhauer, Detlef

Journal:

Nephron Physiology

Year:

2006

Language:

english

File:

PDF, 157 KB

english, 2006

53

Familial Membranous Nephropathy: An X-Linked Genetic Susceptibility?

Bockenhauer, Detlef, Debiec, Hanna, Sebire, Neil, Barratt, Martin, Warwicker, Paul, Ronco, Pierre, Kleta, Robert

Journal:

Nephron Clinical Practice

Year:

2008

Language:

english

File:

PDF, 490 KB

english, 2008

54

The use of whole-exome sequencing to disentangle complex phenotypes

Williams, Hywel J, Hurst, John R, Ocaka, Louise, James, Chela, Pao, Caroline, Chanudet, Estelle, Lescai, Francesco, Stanescu, Horia C, Kleta, Robert, Rosser, Elisabeth, Bacchelli, Chiara, Beales, Phil

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 431 KB

english, 2015

55

Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations

Simpkin, Arabella, Cochran, Elaine, Cameron, Fergus, Dattani, Mehul, de Bock, Martin, Dunger, David B., Forsander, Gun, Guran, Tulay, Harris, Julie, Isaac, Iona, Hussain, Khalid, Kleta, Robert, Peters

Journal:

Nephron Physiology

Year:

2014

Language:

english

File:

PDF, 624 KB

english, 2014

56

New Treatment Options for Bartter's Syndrome

Kleta, Robert, Basoglu, Candan, Kuwertz-Bröking, Eberhard

Journal:

Boston Medical and Surgical Journal

Year:

2000

Language:

english

File:

PDF, 232 KB

english, 2000

57

STAG3 truncating variant as the cause of primary ovarian insufficiency

Le Quesne Stabej, Polona, Williams, Hywel J, James, Chela, Tekman, Mehmet, Stanescu, Horia C, Kleta, Robert, Ocaka, Louise, Lescai, Francesco, Storr, Helen L, Bitner-Glindzicz, Maria, Bacchelli, Chiar

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1013 KB

english, 2015

58

Pharmacological treatment of nephropathic cystinosis with cysteamine

Kleta, Robert, Gahl, William A

Journal:

Expert Opinion on Pharmacotherapy

Year:

2004

Language:

english

File:

PDF, 136 KB

english, 2004

59

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

Dumitriu, Simona, Klootwijk, Enriko, Issler, Naomi, Stanescu, Horia, Kleta, Robert, Puiu, Maria

Journal:

Romanian Review of Laboratory Medicine

Year:

2013

Language:

english

File:

PDF, 571 KB

english, 2013

60

Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue—a case series and genetic exploration: Table 1

Rowczenio, Dorota M., Iancu, Daniela S., Trojer, Hadija, Gilbertson, Janet A., Gillmore, Julian D., Wechalekar, Ashutosh D., Tekman, Mehmet, Stanescu, Horia C., Kleta, Robert, Lane, Thirusha, Hawkins,

Journal:

Year:

2016

Language:

english

File:

PDF, 65 KB

english, 2016

61

Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy

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,

Journal:

Year:

2016

Language:

english

File:

PDF, 1.66 MB

english, 2016

62

Swallowing Dysfunction in 101 Patients with Nephropathic Cystinosis

Sonies, Barbara C., Almajid, Phaedra, Kleta, Robert, Bernardini, Isa, Gahl, William A.

Journal:

Medicine (Williams & Wilkins)

Year:

2005

Language:

english

File:

PDF, 340 KB

english, 2005

63

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

Abdelhadi, Ola, Iancu, Daniela, Stanescu, Horia, Kleta, Robert, Bockenhauer, Detlef

Journal:

Year:

2016

Language:

english

File:

PDF, 684 KB

english, 2016

64

Tolvaptan is successful in treating inappropriate antidiuretic hormone secretion in infants

Marx-Berger, Daniela, Milford, David V, Bandhakavi, Meenakshi, van't Hoff, William, Kleta, Robert, Dattani, Mehul, Bockenhauer, Detlef

Journal:

Acta Paediatrica

Year:

2016

Language:

english

File:

PDF, 89 KB

english, 2016

65

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

Plumb, Lucy Anne, van't Hoff, William, Kleta, Robert, Reid, Chris, Ashton, Emma, Samuels, Martin, Bockenhauer, Detlef

Journal:

Year:

2016

Language:

english

File:

PDF, 104 KB

english, 2016

66

Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis

Oliveira, Ben, Kleta, Robert, Bockenhauer, Detlef, Walsh, Stephen B

Journal:

AJP: Renal Physiology

Year:

2016

Language:

english

File:

PDF, 4.94 MB

english, 2016

67

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

Dufek, Stephanie, Booth, Christine, Carroll, Adrian, van't Hoff, William, Kleta, Robert, Bockenhauer, Detlef

Journal:

Acta Paediatrica

Year:

2017

Language:

english

File:

PDF, 468 KB

english, 2017

68

Pathophysiology, current treatments and future targets in hereditary forms of renal Fanconi syndrome

Klootwijk, Enriko, Dufek, Stephanie, Issler, Naomi, Bockenhauer, Detlef, Kleta, Robert

Journal:

Expert Opinion on Orphan Drugs

Year:

2017

Language:

english

File:

PDF, 1.36 MB

english, 2017

69

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

Pêgo, Sabina Pena B., Coletta, Ricardo D., Dumitriu, Simona, Iancu, Daniela, Albanyan, Saleh, Kleta, Robert, Auricchio, Maria Teresa, Santos, Luis Antônio, Rocha, Breno, Martelli-Júnior, Hercílio

Journal:

Oral Surgery Oral Medicine Oral Pathology and Oral Radiology

Year:

2017

Language:

english

File:

PDF, 7.08 MB

english, 2017

70

Of dogs and men

Bockenhauer, Detlef, Kleta, Robert

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 65 KB

english, 2017

71

Clinical and molecular aspects of distal renal tubular acidosis in children

Besouw, Martine T. P., Bienias, Marc, Walsh, Patrick, Kleta, Robert, van’t Hoff, William G., Ashton, Emma, Jenkins, Lucy, Bockenhauer, Detlef

Journal:

Pediatric Nephrology

Year:

2017

Language:

english

File:

PDF, 808 KB

english, 2017

72

Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1

Gale, Daniel P., Molyneux, Karen, Wimbury, David, Higgins, Patricia, Levine, Adam P., Caplin, Ben, Ferlin, Anna, Yin, Peiran, Nelson, Christopher P., Stanescu, Horia, Samani, Nilesh J., Kleta, Robert,

Journal:

Journal of the American Society of Nephrology

Year:

2017

Language:

english

File:

PDF, 809 KB

english, 2017

73

Multi-infarct dementia of Swedish type is caused by a 3’UTR mutation of COL4A1

Siitonen, Maija, Börjesson-Hanson, Anne, Pöyhönen, Minna, Ora, Ari, Pasanen, Petra, Bras, Jose, Kern, Silke, Kern, Jürgen, Andersen, Oluf, Stanescu, Horia, Kleta, Robert, Baumann, Marc, Kalaria, Rajes

Journal:

Year:

2017

Language:

english

File:

PDF, 243 KB

english, 2017

74

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

Issler, Naomi, Dufek, Stephanie, Kleta, Robert, Bockenhauer, Detlef, Smeulders, Naima, van‘t Hoff, William

Journal:

Year:

2017

Language:

english

File:

PDF, 499 KB

english, 2017

75

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

Besouw, Martine T. P., Bienias, Marc, Walsh, Patrick, Kleta, Robert, van’t Hoff, William G., Ashton, Emma, Jenkins, Lucy, Bockenhauer, Detlef

Journal:

Pediatric Nephrology

Year:

2017

Language:

english

File:

PDF, 179 KB

english, 2017

76

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome

Abdelhadi, Ola, Iancu, Daniela, Tekman, Mehmet, Stanescu, Horia, Bockenhauer, Detlef, Kleta, Robert

Journal:

Molecular Genetics & Genomic Medicine

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

77

HaploForge: A Comprehensive Pedigree Drawing and Haplotype Visualisation Web Application

Tekman, Mehmet, Medlar, Alan, Mozere, Monika, Kleta, Robert, Stanescu, Horia

Journal:

Year:

2017

Language:

english

File:

PDF, 4.15 MB

english, 2017

78

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

Kleta, Robert, Bockenhauer, Detlef

Journal:

Journal of the American Society of Nephrology

Year:

2017

Language:

english

File:

PDF, 1.05 MB

english, 2017

79

Genetics of membranous nephropathy

Gupta, Sanjana, Köttgen, Anna, Hoxha, Elion, Brenchley, Paul, Bockenhauer, Detlef, Stanescu, Horia C, Kleta, Robert

Journal:

Nephrology Dialysis Transplantation

Year:

2017

Language:

english

File:

PDF, 195 KB

english, 2017

80

Clinical and diagnostic features of Bartter and Gitelman syndromes

Walsh, Patrick R, Tse, Yincent, Ashton, Emma, Iancu, Daniela, Jenkins, Lucy, Bienias, Marc, Kleta, Robert, van’t Hoff, William, Bockenhauer, Detlef

Journal:

Clinical Kidney Journal

Year:

2017

Language:

english

File:

PDF, 535 KB

english, 2017

81

Zebrafish as a model for kidney function and disease

Outtandy, Priya, Russell, Claire, Kleta, Robert, Bockenhauer, Detlef

Journal:

Pediatric Nephrology

Year:

2018

Language:

english

File:

PDF, 777 KB

english, 2018

82

Fainting Fanconi syndrome clarified by proxy: a case report

Walsh, Stephen Benedict, Unwin, Robert, Kleta, Robert, van’t Hoff, William, Bass, Paul, Hussain, Khalid, Ellard, Sian, Bockenhauer, Detlef

Journal:

Year:

2017

Language:

english

File:

PDF, 467 KB

english, 2017

83

Long-term outcome in inherited nephrogenic diabetes insipidus

Sharma, Sonia, Ashton, Emma, Iancu, Daniela, Arthus, Marie-Francoise, Hayes, Wesley, van’t Hoff, William, Kleta, Robert, Bichet, Daniel G, Bockenhauer, Detlef

Journal:

Clinical Kidney Journal

Year:

2018

Language:

english

File:

PDF, 403 KB

english, 2018

84

Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes

Lescai, Francesco, Bonfiglio, Silvia, Bacchelli, Chiara, Chanudet, Estelle, Waters, Aoife, Sisodiya, Sanjay M., Kasperavičiūtė, Dalia, Williams, Julie, Harold, Denise, Hardy, John, Kleta, Robert, Cira

Journal:

Year:

2012

Language:

english

File:

PDF, 476 KB

english, 2012

85

Cystic Fibrosis and Metabolic Alkalosis in Children – Revisited

Kleta, Robert, Brune, Thomas, Harms, Erik

Journal:

Mineral and Electrolyte Metabolism

Year:

1999

Language:

english

File:

PDF, 140 KB

english, 1999

86

MUC1 Makes Me Miserable

Gale, Daniel P., Kleta, Robert

Journal:

Journal of the American Society of Nephrology

Year:

2018

Language:

english

File:

PDF, 464 KB

english, 2018

87

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

Dourado, Mauricio Rocha, dos Santos, Cássio Roberto Rocha, Dumitriu, Simona, Iancu, Daniela, Albanyan, Saleh, Kleta, Robert, Coletta, Ricardo D., Marques Mesquita, Ana Terezinha

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.96 MB

english, 2018

88

Intraperitoneal Application of Low-Molecular-Weight Heparin in Continuous Ambulatory Peritoneal Dialysis in a Child

Kleta, Robert, Fründ, Stefan, Kuwertz-Bröking, Eberhard, Bulla, Monika

Journal:

Year:

2000

File:

PDF, 81 KB

2000

89

HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood

Adalat, Shazia, Hayes, Wesley N., Bryant, William A., Booth, John, Woolf, Adrian S., Kleta, Robert, Subtil, Sandra, Clissold, Rhian, Colclough, Kevin, Ellard, Sian, Bockenhauer, Detlef

Journal:

Kidney International Reports

Year:

2019

Language:

english

File:

PDF, 1012 KB

english, 2019

90

TO029EPIDEMIOLOGY OF PAEDIATRIC UROLITHIASIS IN A LARGE COHORT IN UK

Dufek, Stephanie, Issler, Naomi, Kleta, Robert, Bockenhauer, Detlef, Smeulders, Naima, van't Hoff, William

Journal:

Nephrology Dialysis Transplantation

Year:

2016

Language:

english

File:

PDF, 58 KB

english, 2016

91

SO030POLYCYSTIC KIDNEY DISEASE WITH HYPERINSULINAEMIC HYPOGLYCAEMIA AND A PROMOTER MUTATION IN PMM2

Rubio Cabezas, Oscar, Flanagan, Sarah, Stanescu, Horia, Kleta, Robert, Hussain, Khalid, Ellard, Sian, Bockenhauer, Detlef

Journal:

Nephrology Dialysis Transplantation

Year:

2017

Language:

english

File:

PDF, 71 KB

english, 2017

92

Bartter and Gitelman syndromes: Questions of class

Besouw, Martine T. P., Kleta, Robert, Bockenhauer, Detlef

Journal:

Pediatric Nephrology

Year:

2019

Language:

english

File:

PDF, 456 KB

english, 2019

93

SO030POLYCYSTIC KIDNEY DISEASE WITH HYPERINSULINAEMIC HYPOGLYCAEMIA AND A PROMOTER MUTATION IN PMM2

Rubio Cabezas, Oscar, Flanagan, Sarah, Stanescu, Horia, Kleta, Robert, Hussain, Khalid, Ellard, Sian, Bockenhauer, Detlef

Journal:

Nephrology Dialysis Transplantation

Year:

2017

File:

PDF, 71 KB

2017

94

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

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

Journal:

Year:

2019

File:

PDF, 6.60 MB

2019

95

ENAMEL RENAL SYNDROME: A NOVEL HOMOZYGOUS FAM20A FOUNDER MUTATION IN 5 NEW BRAZILIAN FAMILIES

MESQUITA, ANA TEREZINHA MARQUES, DOURADO, MAURICIO ROCHA, DOS SANTOS, CÁSSIO ROBERTO ROCHA, DA SILVEIRA, ESMERALDA MARIA, GONÇALVES, RAFAELA NOGUEIRA MOREIRA, KLETA, ROBERT, COLETTA, RICARDO DELLA

Journal:

Oral Surgery Oral Medicine Oral Pathology and Oral Radiology

Year:

2020

File:

PDF, 40 KB

2020

96

Inherited Tubulopathies of the Kidney

Downie, Mallory L., Lopez Garcia, Sergio C., Kleta, Robert, Bockenhauer, Detlef

Journal:

Clinical Journal of the American Society of Nephrology

Year:

2020

File:

PDF, 1.51 MB

2020

97

Genetics of renovascular hypertension in children

Viering, Daan H.H.M., Chan, Melanie M.Y., Hoogenboom, Lieke, Iancu, Daniela, de Baaij, Jeroen H.F., Tullus, Kjell, Kleta, Robert, Bockenhauer, Detlef

Journal:

Journal of Hypertension

Year:

2020

File:

PDF, 225 KB

2020

98

HEROIC: a 5-year observational cohort study aimed at identifying novel factors that drive diabetic kidney disease: rationale and study protocol

Mccafferty, Kieran, Caplin, Ben, Knight, Sinead, Hockings, Paul, Wheeler, David, Fan, Stanley L, Hulthe, Johannes, Kleta, Robert, Ashman, Neil, Papastefanou, Vasilios, Mehta, Hemal, Salama, Alan, Hadz

Journal:

Year:

2020

File:

PDF, 630 KB

2020

99

Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood

Dufek-Kamperis, Stephanie, Kleta, Robert, Bockenhauer, Detlef, Gale, Daniel, Downie, Mallory L.

Journal:

Pediatric Nephrology

Year:

2020

File:

PDF, 476 KB

2020