Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.

Idiopathic hypoparathyroidism has been reported to occur as an X-linked recessive disorder in two multigeneration kindreds. Affected individuals, who are males, suffer from infantile onset of epilepsy and hypocalcemia, which appears to be due to an isolated congenital defect of parathyroid gland dev...

Bibliografski detalji
Glavni autori:	Thakker, R, Davies, K, Whyte, M, Wooding, C, O'Riordan, J
Format:	Journal article
Jezik:	English
Izdano:	1990

Slični predmeti

MAPPING OF THE X-LINKED IDIOPATHIC HYPOPARATHYROID GENE TO XQ26-XQ27 BY LINKAGE STUDIES
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Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
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Genetic mapping studies of the X-linked recessive hypoparathyroid gene on the X chromosome (Xq27).
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Physical map of the Xq27 candidate region for X-linked recessive hypoparathyroidism in two kindreds merged by mitochondrial DNA analysis
od: Mumm, S, i dr.
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X-linked recessive hypoparathyroidism is caused by a molecular deletional-insertion involving chromosomes Xq27 and 2p25.
od: Bowl, MR, i dr.
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An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.
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X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.
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Distal Xq duplication and functional Xq disomy
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YAC CONTIGS IN XQ12-]Q13.1
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Linear order of new and established DNA markers around the fragile site at Xq27.3.
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mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation.
od: Mumm, S, i dr.
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Construction of a YAC contig spanning the Xq13.3 subband.
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Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome
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Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion
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Population genetics of the FRAXE and FRAXF GCC repeats, and a novel CGG repeat, in Xq28.
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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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SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease
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Isolation of the human chromosomal band Xq28 within somatic cell hybrids by fragile X site breakage.
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Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family.
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Klinefelter-like phenotype and primary infertility in a male with a paracentric Xq inversion.
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