MAPPING OF THE X-LINKED IDIOPATHIC HYPOPARATHYROID GENE TO XQ26-XQ27 BY LINKAGE STUDIES

MAPPING OF THE X-LINKED IDIOPATHIC HYPOPARATHYROID GENE TO XQ26-XQ27 BY LINKAGE STUDIES

Bibliografiska uppgifter
Huvudupphovsmän:	Thakker, R, Davies, K, Whyte, M, Wooding, C, Oriordan, J
Materialtyp:	Journal article
Publicerad:	1989

Liknande verk

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism 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
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X-linked recessive hypoparathyroidism is caused by a molecular deletional-insertion involving chromosomes Xq27 and 2p25.
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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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An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.
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Distal Xq duplication and functional Xq disomy
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A LINKAGE STUDY USING DNA MARKERS LOCALIZES THE GENE FOR X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE AT XQ13-XQ22
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Recurrent Microdeletions at Xq27.3-Xq28 and Male Infertility: A Study in the Czech Population.
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Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families
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LINKAGE ANALYSIS OF 3 CLONED DNA-SEQUENCES, DXS294, CDR AND DXS105, IN X-LINKED RECESSIVE HYPOPARATHYROID FAMILIES
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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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Identification and Characterization of Nine Novel X-Chromosomal Short Tandem Repeats on Xp21.1, Xq21.31, and Xq23 Regions
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ChrXq27.3 miRNA cluster functions in cancer development
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X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
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Two Patients with X Chromosome Duplication: dupXp and dupXq
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Incidental detection of partial Xq deletion (Xq21→qter), or 46,X,del(X)(q21) in a 17-year-old girl with irregular menstrual cycle
av: Chih-Ping Chen
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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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Fine mapping of the human SCIDX1 locus at Xq12-13.1.
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A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion
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Characterization of novel isoforms and evaluation of <it>SNF2L/SMARCA1 </it>as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26
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2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes.
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B CELL DEFECTS IN A PATIENT WITH XQ24 DELETION
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Systemic lupus erythematosus: genetic variants in Xq28 region
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The systematic functional characterisation of Xq28 genes prioritises candidate disease genes
av: Wiemann Stefan, et al.
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Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot–Marie–Tooth Neuropathy CMTX3
av: Elisa Rahikkala, et al.
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Construction of a YAC contig spanning the Xq13.3 subband.
av: Villard, L, et al.
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New candidate genes for X-linked recessive hypoparathyroidism.
av: Mumm, S, et al.
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Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome
av: Liu, Yanshan, et al.
Publicerad: (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
av: Chih-Ping Chen, et al.
Publicerad: (2016-10-01)

Population genetics of the FRAXE and FRAXF GCC repeats, and a novel CGG repeat, in Xq28.
av: Ritchie, R, et al.
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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
av: Chih-Ping Chen
Publicerad: (2025-03-01)

Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia.
av: McDonell, N, et al.
Publicerad: (2000)

SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease
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X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA) - ANALYSIS OF CYTOGENETIC REARRANGEMENTS IN 4 PATIENTS AND DEVELOPMENT OF A DETAILED PHYSICAL MAP WITHIN XQ12-Q13.1.
av: Thomas, N, et al.
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CHARACTERIZATION OF MOLECULAR DNA REARRANGEMENTS, WITHIN THE XQ12-]Q13.1 REGION, IN 4 PATIENTS WITH X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA)
av: Thomas, N, et al.
Publicerad: (1993)

Identification of a De Novo Xq26.2 Microduplication Encompassing <i>FIRRE</i> Gene in a Child with Intellectual Disability
av: Gianmaria Miolo, et al.
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Isolation of the human chromosomal band Xq28 within somatic cell hybrids by fragile X site breakage.
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