Thakker, Rajesh : rechercher sur Z-Library

Igarashi, Takashi, Inatomi, Jun, Ohara, Toshio, Kuwahara, Takashi, Shimadzu, Mitsunobu, Thakker, Rajesh V

Année:

2001

Langue:

english

Fichier:

PDF, 110 KB

english, 2001

Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease

Journal:

Norden, Anthony G W, Scheinman, Steven J, Deschodt-Lanckman, Monique M, Lapsley, Marta, Nortier, Joëlle L, Thakker, Rajesh V, Unwin, Robert J, Wrong, Oliver

Année:

2000

Langue:

english

Fichier:

PDF, 741 KB

english, 2000

Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 902 KB

english, 2000

Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis

Thakker, Rajesh V

Journal:

Norden, Anthony G.W., Lapsley, Marta, Lee, Philip J., Pusey, Charles D., Scheinman, Steven J., Tam, Frederick W.K., Thakker, Rajesh V., Unwin, Robert J., Wrong, Oliver

Année:

2000

Langue:

english

Fichier:

PDF, 762 KB

english, 2000

Glomerular protein sieving and implications for renal failure in Fanconi syndrome

Journal:

Norden, Anthony G W, Lapsley, Marta, Lee, Philip J, Pusey, Charles D, Scheinman, Steven J, Tam, Frederick W K, Thakker, Rajesh V, Unwin, Robert J, Wrong, Oliver

Année:

2001

Langue:

english

Fichier:

PDF, 143 KB

english, 2001

Fragmentation of filtered proteins and implications for glomerular protein sieving in Fanconi syndrome

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 29 KB

english, 2002

Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship

Wu, Fiona, Roche, Philippe, Christie, Paul T, Loh, Nellie Y, Reed, Anita AC, Esnouf, Robert M, Thakker, Rajesh V

Journal:

Moulin, Pierre, Igarashi, Takashi, Van Der Smissen, Patrick, Cosyns, Jean-Pierre, Verroust, Pierre, Thakker, Rajesh V, Scheinman, Steven J, Courtoy, Pierre J, Devuyst, Olivier

Année:

2003

Langue:

english

Fichier:

PDF, 4.62 MB

english, 2003

Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 3.22 MB

english, 2003

Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH

Dorothy Trump, Michael P. Whyte, Carol Wooding, Joanna T. Pang, Simon H. S. Pearce, David B. Kocher, Rajesh V. Thakker

Journal:

Human Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 541 KB

english, 1995

Characterization of carrier females and affected males with X-linked recessive nephrolithiasis

Scott C. Reinhart, Anthony G. W. Norden, Marta Lapsley, Rajesh V. Thakker, Joanna Pang, Arnold M. Moses, Paul A. Frymoyer, Murray J. Favus, John A. Hoepner, Steven J. Scheinman

Journal:

Clinical and Experimental Nephrology

Année:

1996

Langue:

english

Fichier:

PDF, 119 KB

english, 1996

Chloride channel mutations in hypercalciuric kidney stone disease

Rajesh V. Thakker

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 522 KB

english, 1998

Genetic causes of hypercalciuric nephrolithiasis

Michael J. Stechman, Nellie Y. Loh, Rajesh V. Thakker

Journal:

Valerie Langlois, Chantale Bernard, Steven J. Scheinman, Rajesh V. Thakker, Jeremy P. D. Cox, Paul R. Goodyer

Année:

2009

Langue:

english

Fichier:

PDF, 224 KB

english, 2009

Clinical features of X-linked nephrolithiasis in childhood

Journal:

M. Bosio, Maria Luisa Bianchi, Sarah E. Lloyd, Rajesh V. Thakker

Année:

1998

Langue:

english

Fichier:

PDF, 470 KB

english, 1998

A familial syndrome due to Arg648Stop mutation in the X-linked renal chloride channel gene

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 77 KB

english, 1999

Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density

Brian Harding, Alan J. Curley, Fadil M. Hannan, Paul T. Christie, Michael R. Bowl, Jeremy J. O. Turner, Mathew Barber, Irina Gillham-Nasenya, Geeta Hampson, Tim D. Spector, Rajesh V. Thakker

Journal:

Manuel C. Lemos, Brian Harding, Stephen M. Shalet, Rajesh V. Thakker

Année:

2006

Langue:

english

Fichier:

PDF, 211 KB

english, 2006

A novel MEN1 intronic mutation associated with multiple endocrine neoplasia type 1

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 205 KB

english, 2007

A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia

Fadil M. Hannan, M. A. Nesbit, Paul T. Christie, Willy Lissens, Bart Van der Schueren, Marie Bex, Roger Bouillon, Rajesh V. Thakker

Journal:

Jouret, Francois, Igarashi, Takashi, Gofflot, Francoise, Wilson, Patricia D., Karet, Fiona E., Thakker, Rajesh V., Devuyst, Olivier

Année:

2010

Langue:

english

Fichier:

PDF, 180 KB

english, 2010

Comparative ontogeny, processing, and segmental distribution of the renal chloride channel, ClC-5

Journal:

Irina V. Grigorieva, Rajesh V. Thakker

Année:

2004

Langue:

english

Fichier:

PDF, 381 KB

english, 2004

Transcription factors in parathyroid development: lessons from hypoparathyroid disorders

Journal:

Annals of the New York Academy of Sciences

Année:

2011

Langue:

english

Fichier:

PDF, 504 KB

english, 2011

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3

Hannan, Fadil M, Nesbit, M Andrew, Turner, Jeremy J O, Stacey, Joanna M, Cianferotti, Luisella, Christie, Paul T, Conigrave, Arthur D, Whyte, Michael P, Thakker, Rajesh V

Journal:

European Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 427 KB

english, 2009

Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis

Akuta, Naoko, Lloyd, Sarah E, Igarashi, Takashi, Shiraga, Hiroshi, Matsuyama, Takeshi, Yokoro, Seitarou, Cox, Jeremy P D, Thakker, Rajesh V

Journal: