Genetic mapping studies of the X-linked recessive hypoparathyroid gene on the X chromosome (Xq27).

Genetic mapping studies of the X-linked recessive hypoparathyroid gene on the X chromosome (Xq27).

Podrobná bibliografie
Hlavní autoři:	Dixon, P, Trump, D, Wooding, C, Mumm, S, Schlessinger, D, Whyte, M, Thakker, R
Médium:	Journal article
Vydáno:	1996

Podobné jednotky

Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
Autor: Trump, D, a další
Vydáno: (1998)

Physical map of the Xq27 candidate region for X-linked recessive hypoparathyroidism in two kindreds merged by mitochondrial DNA analysis
Autor: Mumm, S, a další
Vydáno: (1996)

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.
Autor: Thakker, R, a další
Vydáno: (1990)

MAPPING OF THE X-LINKED IDIOPATHIC HYPOPARATHYROID GENE TO XQ26-XQ27 BY LINKAGE STUDIES
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Vydáno: (1989)

X-linked recessive hypoparathyroidism is caused by a molecular deletional-insertion involving chromosomes Xq27 and 2p25.
Autor: Bowl, MR, a další
Vydáno: (2001)

New candidate genes for X-linked recessive hypoparathyroidism.
Autor: Mumm, S, a další
Vydáno: (1999)

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.
Autor: Bowl, MR, a další
Vydáno: (2005)

mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation.
Autor: Mumm, S, a další
Vydáno: (1997)

X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.
Autor: Andrew Nesbit, M, a další
Vydáno: (2004)

LINKAGE ANALYSIS OF 3 CLONED DNA-SEQUENCES, DXS294, CDR AND DXS105, IN X-LINKED RECESSIVE HYPOPARATHYROID FAMILIES
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Vydáno: (1991)

Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphataemic rickets.
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Vydáno: (1996)

LOCALIZATION OF THE GENE CAUSING X-LINKED RECESSIVE NEPHROLITHIASIS TO THE SHORT ARM OF THE X-CHROMOSOME (XP11.22)
Autor: Scheinman, S, a další
Vydáno: (1992)

Mutations of the PEX regulatory and C-terminal regions cause X-linked hypophosphataemia.
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Vydáno: (1997)

X-linked hypophosphatemia (XLH): Mutations compromising PHEX structure reflect a severe phenotype
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Vydáno: (1999)

Expression and cloning of the human X-linked hypophosphatemia gene cDNA.
Autor: Grieff, M, a další
Vydáno: (1997)

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
Autor: Thakker, R, a další
Vydáno: (1994)

Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.
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Vydáno: (1993)

Mutational analysis of PHEX gene in X-linked hypophosphatemia.
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Characterization of two genes within the candidate region for X-linked spondyloepiphyseal dysplasia tarda.
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Vydáno: (1997)

Characterization of two genes within the candidate region for X-linked spondyloepiphyseal dysplasia tarda.
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Two Patients with X Chromosome Duplication: dupXp and dupXq
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Studies of mice deleted for Sox3 and uc482: Relevance to X-linked hypoparathyroidism
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PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.
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XIST IS NOT REQUIRED FOR THE MAINTENANCE OF X-INACTIVATION - ANALYSIS OF THE X-CHROMOSOME BREAKPOINT REGION AT XQ13 IN PATIENTS WITH ACQUIRED ISODICENTRIC X-CHROMOSOME ASSOCIATED WITH LEUKEMIA
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Identification and Characterization of Nine Novel X-Chromosomal Short Tandem Repeats on Xp21.1, Xq21.31, and Xq23 Regions
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Construction of a YAC contig and an STS map spanning 3.6 megabase pairs in Xp22.1.
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A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism.
Autor: Parkinson, D, a další
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Clinical recognition of X-linked recessive nephrocalcinosis (XRN) in childhood.
Autor: Langlois, V, a další
Vydáno: (1997)

X-linked hypophosphataemic rickets in a Saudi Arabian kindred results from a nonsense mutation of the PEX gene.
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A LINKAGE STUDY USING DNA MARKERS LOCALIZES THE GENE FOR X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE AT XQ13-XQ22
Autor: Beckett, J, a další
Vydáno: (1985)

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
Autor: Gibbons, R, a další
Vydáno: (1992)

REPORT OF THE 6TH INTERNATIONAL WORKSHOP ON X-CHROMOSOME MAPPING 1995
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Vydáno: (1995)

Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients
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Recurrent Microdeletions at Xq27.3-Xq28 and Male Infertility: A Study in the Czech Population.
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Isolation of the human chromosomal band Xq28 within somatic cell hybrids by fragile X site breakage.
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Hypoparathyroidism
Autor: Bilezikian, J, a další
Vydáno: (1997)

Characterization of carrier females and affected males with X-linked recessive nephrolithiasis.
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Vydáno: (1995)

Prenatal diagnosis of familial 46,X,del(X)(q27.1) with an Xq27.1-q28 deletion and an Xp22.33 microduplication in an asymptomatic mother carrier
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Genome analysis and the human X chromosome.
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