MAPPING OF 2 HEREDITARY RENAL TUBULAR DISORDERS ASSOCIATED WITH KIDNEY-STONES, AND REFERRED TO AS DENT-DISEASE AND X-LINKED RECESSIVE NEPHROLITHIASIS, TO CHROMOSOME-XP11

MAPPING OF 2 HEREDITARY RENAL TUBULAR DISORDERS ASSOCIATED WITH KIDNEY-STONES, AND REFERRED TO AS DENT-DISEASE AND X-LINKED RECESSIVE NEPHROLITHIASIS, TO CHROMOSOME-XP11

Dettagli Bibliografici
Autori principali:	Thakker, R, Pang, J, Wooding, C, Scheinman, S, Wrong, O, Pook, M
Natura:	Journal article
Pubblicazione:	1994

Documenti analoghi

Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.
di: Scheinman, S, et al.
Pubblicazione: (1993)

LOCALIZATION OF THE GENE CAUSING X-LINKED RECESSIVE NEPHROLITHIASIS TO THE SHORT ARM OF THE X-CHROMOSOME (XP11.22)
di: Scheinman, S, et al.
Pubblicazione: (1992)

THE GENE CAUSING DENTS DISEASE, A RENAL FANCONI SYNDROME WITH NEPHROCALCINOSIS AND KIDNEY-STONES, IS ON THE SHORT ARM OF THE X-CHROMOSOME (XP11.22)
di: Thakker, R, et al.
Pubblicazione: (1993)

Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.
di: Pook, M, et al.
Pubblicazione: (1993)

HEREDITARY NEPHROLITHIASIS IS ASSOCIATED WITH MUTATIONS IN AN X-LINKED CHLORIDE CHANNEL GENE
di: Lloyd, S, et al.
Pubblicazione: (1995)

Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases.
di: Norden, A, et al.
Pubblicazione: (2000)

Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis).
di: Fisher, S, et al.
Pubblicazione: (1994)

Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis.
di: Thakker, R
Pubblicazione: (2000)

Characterization of carrier females and affected males with X-linked recessive nephrolithiasis.
di: Reinhart, S, et al.
Pubblicazione: (1995)

Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.
di: Lloyd, SE, et al.
Pubblicazione: (1997)

Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis).
di: Fisher, S, et al.
Pubblicazione: (1995)

Dent's disease.
di: Neild, G, et al.
Pubblicazione: (2005)

CONSTRUCTION AND ANALYSIS OF LINKING LIBRARIES FROM CHROMOSOMES-11 AND XP
di: Pook, M, et al.
Pubblicazione: (1991)

Genetics of hypercalciuric nephrolithiasis: renal stone disease.
di: Stechman, M, et al.
Pubblicazione: (2007)

CONSTRUCTION AND ANALYSIS OF LINKING LIBRARIES FROM CHROMOSOMES XP AND 11
di: Pook, M, et al.
Pubblicazione: (1993)

Mutations in the chloride channel gene (CLCN5) are associated with hypercalciuric rickets and nephrolithiasis.
di: Lloyd, SE, et al.
Pubblicazione: (1996)

Characterization of novel promoter and enhancer elements of the mouse homologue of the Dent disease gene, CLCN5, implicated in X-linked hereditary nephrolithiasis.
di: Tanaka, K, et al.
Pubblicazione: (1999)

Clinical features of X-linked nephrolithiasis in childhood.
di: Langlois, V, et al.
Pubblicazione: (1998)

Localization of the Tamm-Horsfall glycoprotein (uromodulin) gene to chromosome 16p12.3-16p13.11.
di: Pook, M, et al.
Pubblicazione: (1993)

EagI and NotI linking clones from human chromosomes 11 and Xp.
di: Pook, M, et al.
Pubblicazione: (1996)

Role of chromosome 11 in hereditary and sporadic pituitary tumourigenesis
di: Thakker, R
Pubblicazione: (1996)

Dent's like proximal renal tubular disorder in a First Nations' kindred.
di: Hadad, K, et al.
Pubblicazione: (1997)

Renal chloride channel, CLCN5, mutations in Dent's disease.
di: Cox, J, et al.
Pubblicazione: (1999)

Association of somatotrophinomas with loss of alleles on chromosome 11 and with gsp mutations.
di: Thakker, R, et al.
Pubblicazione: (1993)

Dent's disease.
di: Devuyst, O, et al.
Pubblicazione: (2010)

Genetic mapping studies of the X-linked recessive hypoparathyroid gene on the X chromosome (Xq27).
di: Dixon, P, et al.
Pubblicazione: (1996)

Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis.
di: Wang, S, et al.
Pubblicazione: (2000)

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.
di: Shrimpton, A, et al.
Pubblicazione: (2009)

Genetic causes of hypercalciuric nephrolithiasis.
di: Stechman, M, et al.
Pubblicazione: (2009)

Early Stone Manipulation in Urinary Tract Infection Associated with Obstructing Nephrolithiasis
di: Megan L. Swonke, et al.
Pubblicazione: (2018-01-01)

Clinical recognition of X-linked recessive nephrocalcinosis (XRN) in childhood.
di: Langlois, V, et al.
Pubblicazione: (1997)

CHROMOSOME-11 ABNORMALITIES IN SOMATOTROPHINOMAS FROM PATIENTS WITH ACROMEGALY
di: Thakker, R, et al.
Pubblicazione: (1991)

Low molecular weight ('tubular') proteinuria in patients with mutations of the CLCN5 renal chloride channel gene.
di: Norden, A, et al.
Pubblicazione: (1999)

The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis
di: Poulami Majumder, et al.
Pubblicazione: (2013-01-01)

Windows XP professional : the complete reference /
di: 316538 Hart-Davis, Guy
Pubblicazione: (2003)

Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients.
di: Moulin, P, et al.
Pubblicazione: (2003)

A Pst I restriction fragment length polymorphism near the MAO locus on Xp.
di: Salenger, P, et al.
Pubblicazione: (1996)

Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients.
di: Gorvin, C, et al.
Pubblicazione: (2013)

Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome.
di: Thakker, R
Pubblicazione: (2000)

Windows XP home edition : the complete reference /
di: 427646 Levine, John, et al.
Pubblicazione: (2002)