An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.

X-linked recessive hypoparathyroidism, due to parathyroid agenesis, has been mapped to a 906-kb region on Xq27 that contains 3 genes (ATP11C, U7snRNA, and SOX3), and analyses have not revealed mutations. We therefore characterized this region by combined analysis of single nucleotide polymorphisms a...

Bibliografiset tiedot
Päätekijät:	Bowl, MR, Nesbit, M, Harding, B, Levy, E, Jefferson, A, Volpi, E, Rizzoti, K, Lovell-Badge, R, Schlessinger, D, Whyte, M, Thakker, R
Aineistotyyppi:	Journal article
Kieli:	English
Julkaistu:	2005

Samankaltaisia teoksia

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

Physical map of the Xq27 candidate region for X-linked recessive hypoparathyroidism in two kindreds merged by mitochondrial DNA analysis
Tekijä: Mumm, S, et al.
Julkaistu: (1996)

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.
Tekijä: Thakker, R, et al.
Julkaistu: (1990)

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Tekijä: Katherine U Gaynor, et al.
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Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
Tekijä: Trump, D, et al.
Julkaistu: (1998)

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Tekijä: Thakker, R, et al.
Julkaistu: (1989)

New candidate genes for X-linked recessive hypoparathyroidism.
Tekijä: Mumm, S, et al.
Julkaistu: (1999)

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

Molecular diagnosis of hypoparathyroidism: 2 illustrative cases
Tekijä: Hampson, G, et al.
Julkaistu: (2003)

A family with hypoparathyroidism, deafness and renal anomaly syndrome - Clinical and molecular studies
Tekijä: Dobbie, A, et al.
Julkaistu: (2001)

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Tekijä: Nesbit, M, et al.
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Tekijä: Thakker, R, et al.
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Tekijä: Jianlong Zhuang, et al.
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Tekijä: Lee, Kristie, et al.
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Tekijä: Mirczuk, S, et al.
Julkaistu: (2010)

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Tekijä: Parkinson, D, et al.
Julkaistu: (1992)

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Tekijä: Elisa Rahikkala, et al.
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Tekijä: Bilezikian, J, et al.
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Tekijä: Gaynor, K, et al.
Julkaistu: (2009)

Genetic developments in hypoparathyroidism.
Tekijä: Thakker, R
Julkaistu: (2001)

Molecular genetics of hypoparathyroidism
Tekijä: Thakker, R
Julkaistu: (2003)

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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Distal Xq duplication and functional Xq disomy
Tekijä: Schluth-Bolard Caroline, et al.
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Recurrent Microdeletions at Xq27.3-Xq28 and Male Infertility: A Study in the Czech Population.
Tekijä: Blanka Chylíková, et al.
Julkaistu: (2016-01-01)

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Tekijä: Bowl, MR, et al.
Julkaistu: (2001)

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Tekijä: Mannstadt, M, et al.
Julkaistu: (2017)

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Tekijä: Zahirieh, A, et al.
Julkaistu: (2005)

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Tekijä: Marcelo Santana Ferreira
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Tekijä: Mannstadt, M, et al.
Julkaistu: (2013)

Characterization and mapping of the human SOX4 gene.
Tekijä: Farr, C, et al.
Julkaistu: (1993)

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Tekijä: Ailton Vitor Guimarães
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Tekijä: Zahirieh, A, et al.
Julkaistu: (2005)

Construction of a YAC contig spanning the Xq13.3 subband.
Tekijä: Villard, L, et al.
Julkaistu: (1995)

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Tekijä: Mannstadt, M, et al.
Julkaistu: (2022)

Transcription factors in parathyroid development: lessons from hypoparathyroid disorders.
Tekijä: Grigorieva, I, et al.
Julkaistu: (2011)