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)

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)

ग्रंथसूची विवरण
मुख्य लेखकों:	Thakker, R, Pook, M, Wooding, C, Norden, A, Feest, T, Wrong, O
स्वरूप:	Journal article
प्रकाशित:	1993

समान संसाधन

Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.
द्वारा: Pook, M, और अन्य
प्रकाशित: (1993)

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
द्वारा: Thakker, R, और अन्य
प्रकाशित: (1994)

LOCALIZATION OF THE GENE CAUSING X-LINKED RECESSIVE NEPHROLITHIASIS TO THE SHORT ARM OF THE X-CHROMOSOME (XP11.22)
द्वारा: Scheinman, S, और अन्य
प्रकाशित: (1992)

Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.
द्वारा: Scheinman, S, और अन्य
प्रकाशित: (1993)

Dent's disease.
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Renal chloride channel, CLCN5, mutations in Dent's disease.
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प्रकाशित: (1999)

FURTHER-STUDIES ON CONSERVED LOCI IN XP11.22-]P11.21
द्वारा: Boyd, Y, और अन्य
प्रकाशित: (1993)

YAC CONTIGS AND PHYSICAL MAPPING OF XP11.23-]P11.22
द्वारा: Fisher, S, और अन्य
प्रकाशित: (1994)

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report
द्वारा: Magdalena Danyel, और अन्य
प्रकाशित: (2019-01-01)

Prenatally detected six duplications at Xp22.33-p11.22: a case report
द्वारा: Xue Zhang, और अन्य
प्रकाशित: (2023-04-01)

The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis.
द्वारा: Thakker, R
प्रकाशित: (1998)

YAC MAPPING OF THE WISKOTT-ALDRICH SYNDROME LOCUS IN XP11.31-]P11.22
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Further Clinical and Molecular Delineation of Xp11.22 Deletion Syndrome: A Case Report
द्वारा: Halima Al-Shehhi, और अन्य
प्रकाशित: (2019-09-01)

Glomerular protein sieving and implications for renal failure in Fanconi syndrome.
द्वारा: Norden, A, और अन्य
प्रकाशित: (2001)

Fragmentation of filtered proteins and implications for glomerular protein sieving in Fanconi syndrome.
द्वारा: Norden, A, और अन्य
प्रकाशित: (2002)

A Rare Novel Copy Number Variation of Xp22.33-p11.22 Duplication is Associated with Congenital Heart Defects
द्वारा: Juan Zhang, और अन्य
प्रकाशित: (2015-01-01)

A novel Xp11.22–22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy
द्वारा: Jingwei Liu, और अन्य
प्रकाशित: (2021-03-01)

Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases.
द्वारा: Norden, A, और अन्य
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CONSTRUCTION AND ANALYSIS OF LINKING LIBRARIES FROM CHROMOSOMES-11 AND XP
द्वारा: Pook, M, और अन्य
प्रकाशित: (1991)

Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22.
द्वारा: Miller, A, और अन्य
प्रकाशित: (1995)

CONSTRUCTION AND ANALYSIS OF LINKING LIBRARIES FROM CHROMOSOMES XP AND 11
द्वारा: Pook, M, और अन्य
प्रकाशित: (1993)

Urinary Stones in Neonates: Dilemma Between Urolithiasis and Nephrocalcinosis
द्वारा: Fatma Narter, और अन्य
प्रकाशित: (2015-03-01)

Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1
द्वारा: Qingming Wang, और अन्य
प्रकाशित: (2020-05-01)

EagI and NotI linking clones from human chromosomes 11 and Xp.
द्वारा: Pook, M, और अन्य
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Dent's disease.
द्वारा: Devuyst, O, और अन्य
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Construction of a YAC contig and an STS map spanning 3.6 megabase pairs in Xp22.1.
द्वारा: Trump, D, और अन्य
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Dent's disease
द्वारा: Thakker Rajesh V, और अन्य
प्रकाशित: (2010-10-01)

Recurrent fever of unknown origin and unexplained bacteremia in a patient with a novel 4.5 Mb microdeletion in Xp11.23-p11.22
द्वारा: Cho-Rong Lee, और अन्य
प्रकाशित: (2024-08-01)

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.
द्वारा: Christina Grau, और अन्य
प्रकाशित: (2017-01-01)

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.
द्वारा: Toutain, A, और अन्य
प्रकाशित: (2002)

Clinical recognition of X-linked recessive nephrocalcinosis (XRN) in childhood.
द्वारा: Langlois, V, और अन्य
प्रकाशित: (1997)

Association of somatotrophinomas with loss of alleles on chromosome 11 and with gsp mutations.
द्वारा: Thakker, R, और अन्य
प्रकाशित: (1993)

P362: Newborn with 4 syndromes (Down, Turner, Xp11.22 duplication and 3q duplication) characterized by G-banding, FISH, microarray and optical genome mapping
द्वारा: Jie Xu, और अन्य
प्रकाशित: (2023-01-01)

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).
द्वारा: Fisher, S, और अन्य
प्रकाशित: (1994)

Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5' region of PEX.
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Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis
द्वारा: Anneke B. Oostra, और अन्य
प्रकाशित: (2012-01-01)

Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report
द्वारा: Jincheng Dai, और अन्य
प्रकाशित: (2022-06-01)

Hypercalciuric nephrocalcinosis in Japanese children due to mutations of the renal chloride channel (CLCN5).
द्वारा: Lloyd, SE, और अन्य
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Comparison of Renal Stones and Nephrocalcinosis in Children: Findings From Two Tertiary Centers in Saudi Arabia
द्वारा: Khalid A. Alhasan, और अन्य
प्रकाशित: (2022-01-01)

Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients.
द्वारा: Gorvin, C, और अन्य
प्रकाशित: (2013)