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...

Disgrifiad llawn

Manylion Llyfryddiaeth
Prif Awduron:	Thakker, R, Davies, K, Whyte, M, Wooding, C, O'Riordan, J
Fformat:	Journal article
Iaith:	English
Cyhoeddwyd:	1990

Eitemau Tebyg

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

Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
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Cyhoeddwyd: (1998)

Genetic mapping studies of the X-linked recessive hypoparathyroid gene on the X chromosome (Xq27).
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Cyhoeddwyd: (1996)

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

X-linked recessive hypoparathyroidism is caused by a molecular deletional-insertion involving chromosomes Xq27 and 2p25.
gan: Bowl, MR, et al.
Cyhoeddwyd: (2001)

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.
gan: Bowl, MR, et al.
Cyhoeddwyd: (2005)

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

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

A LINKAGE STUDY USING DNA MARKERS LOCALIZES THE GENE FOR X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE AT XQ13-XQ22
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Cyhoeddwyd: (1985)

Recurrent Microdeletions at Xq27.3-Xq28 and Male Infertility: A Study in the Czech Population.
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Cyhoeddwyd: (2016-01-01)

Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families
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Cyhoeddwyd: (2012-06-01)

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

Identification and Characterization of Nine Novel X-Chromosomal Short Tandem Repeats on Xp21.1, Xq21.31, and Xq23 Regions
gan: Qinrui Yang, et al.
Cyhoeddwyd: (2021-11-01)

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
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Cyhoeddwyd: (1992)

Two Patients with X Chromosome Duplication: dupXp and dupXq
gan: Ozer O, et al.
Cyhoeddwyd: (2009-01-01)

Incidental detection of partial Xq deletion (Xq21→qter), or 46,X,del(X)(q21) in a 17-year-old girl with irregular menstrual cycle
gan: Chih-Ping Chen
Cyhoeddwyd: (2023-11-01)

PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.
gan: Lindsay, S, et al.
Cyhoeddwyd: (1996)

YAC CONTIGS IN XQ12-]Q13.1
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Cyhoeddwyd: (1994)

Linear order of new and established DNA markers around the fragile site at Xq27.3.
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Cyhoeddwyd: (1991)

B CELL DEFECTS IN A PATIENT WITH XQ24 DELETION
gan: Anzilotti, C, et al.
Cyhoeddwyd: (2012)

Systemic lupus erythematosus: genetic variants in Xq28 region
gan: Noha Doudar, et al.
Cyhoeddwyd: (2019-10-01)

2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes.
gan: Lafrenière, R, et al.
Cyhoeddwyd: (1993)

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

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

Construction of a YAC contig spanning the Xq13.3 subband.
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Cyhoeddwyd: (1995)

Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome
gan: Liu, Yanshan, et al.
Cyhoeddwyd: (2022)

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
gan: Chih-Ping Chen, et al.
Cyhoeddwyd: (2016-10-01)

Population genetics of the FRAXE and FRAXF GCC repeats, and a novel CGG repeat, in Xq28.
gan: Ritchie, R, et al.
Cyhoeddwyd: (1997)

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
gan: Chih-Ping Chen
Cyhoeddwyd: (2025-03-01)

Fine mapping of the human SCIDX1 locus at Xq12-13.1.
gan: Markiewicz, S, et al.
Cyhoeddwyd: (1993)

SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease
gan: J. M. Ramirez, et al.
Cyhoeddwyd: (2019-01-01)

The systematic functional characterisation of Xq28 genes prioritises candidate disease genes
gan: Wiemann Stefan, et al.
Cyhoeddwyd: (2006-02-01)

CHARACTERIZATION OF MOLECULAR DNA REARRANGEMENTS, WITHIN THE XQ12-]Q13.1 REGION, IN 4 PATIENTS WITH X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA)
gan: Thomas, N, et al.
Cyhoeddwyd: (1993)

Isolation of the human chromosomal band Xq28 within somatic cell hybrids by fragile X site breakage.
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Cyhoeddwyd: (1990)

Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family.
gan: Martínez, F, et al.
Cyhoeddwyd: (2004)

Klinefelter-like phenotype and primary infertility in a male with a paracentric Xq inversion.
gan: Németh, A, et al.
Cyhoeddwyd: (2002)

Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion Syndrome
gan: Matthew T. Whitehead, et al.
Cyhoeddwyd: (2014-01-01)

Dynamic Performance of a Hybrid Synchronous Machine with Ultra-High XD/XQ Ratio
gan: Linus Uchechukwu Anih, et al.
Cyhoeddwyd: (2023-04-01)

Evaluating Temperature Measurements of the iMET-XQ, in the Field, under Varying Atmospheric Conditions
gan: Sytske K. Kimball, et al.
Cyhoeddwyd: (2020-03-01)

Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature Review
gan: Lu Qin, et al.
Cyhoeddwyd: (2022-09-01)