Physical map of the Xq27 candidate region for X-linked recessive hypoparathyroidism in two kindreds merged by mitochondrial DNA analysis

Physical map of the Xq27 candidate region for X-linked recessive hypoparathyroidism in two kindreds merged by mitochondrial DNA analysis

Xehetasun bibliografikoak
Egile Nagusiak:	Mumm, S, Whyte, M, Thakker, R, Schlessinger, D
Formatua:	Journal article
Argitaratua:	1996

Antzeko izenburuak

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

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

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

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.
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Argitaratua: (1990)

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

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

MAPPING OF THE X-LINKED IDIOPATHIC HYPOPARATHYROID GENE TO XQ26-XQ27 BY LINKAGE STUDIES
nork: Thakker, R, et al.
Argitaratua: (1989)

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

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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Argitaratua: (2004)

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

Expression and cloning of the human X-linked hypophosphatemia gene cDNA.
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Argitaratua: (1997)

Characterization of two genes within the candidate region for X-linked spondyloepiphyseal dysplasia tarda.
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Argitaratua: (1997)

Characterization of two genes within the candidate region for X-linked spondyloepiphyseal dysplasia tarda.
nork: Mumm, S, et al.
Argitaratua: (1997)

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism.
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Recurrent Microdeletions at Xq27.3-Xq28 and Male Infertility: A Study in the Czech Population.
nork: Blanka Chylíková, et al.
Argitaratua: (2016-01-01)

Hypoparathyroidism
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Argitaratua: (1997)

A 5-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a 6-generation Arkansas kindred.
nork: Mumm, S, et al.
Argitaratua: (2000)

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.
nork: Mumm, S, et al.
Argitaratua: (2000)

Linear order of new and established DNA markers around the fragile site at Xq27.3.
nork: Hirst, M, et al.
Argitaratua: (1991)

Genetic developments in hypoparathyroidism.
nork: Thakker, R
Argitaratua: (2001)

Molecular genetics of hypoparathyroidism
nork: Thakker, R
Argitaratua: (2003)

Distal Xq duplication and functional Xq disomy
nork: Schluth-Bolard Caroline, et al.
Argitaratua: (2009-02-01)

A LINKAGE STUDY USING DNA MARKERS LOCALIZES THE GENE FOR X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE AT XQ13-XQ22
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Hypoparathyroidism
nork: Mannstadt, M, et al.
Argitaratua: (2017)

LINKAGE STUDIES IN A KINDRED WITH AUTOSOMAL-DOMINANT SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD) INDICATE GENETIC-HETEROGENEITY
nork: Gertner, J, et al.
Argitaratua: (1995)

ChrXq27.3 miRNA cluster functions in cancer development
nork: Kosuke Yoshida, et al.
Argitaratua: (2021-03-01)

LINKAGE STUDIES IN A KINDRED WITH HYPOCALCIURIC HYPERCALCEMIA AND INCREASING SERUM PARATHYROID-HORMONE LEVELS INDICATE GENETIC-HETEROGENEITY
nork: Trump, D, et al.
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X-linked hypophosphataemic rickets in a Saudi Arabian kindred results from a nonsense mutation of the PEX gene.
nork: Dixon, P, et al.
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KINDRED IN DEATH /
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Studies of mice deleted for Sox3 and uc482: Relevance to X-linked hypoparathyroidism
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Argitaratua: (2020)

Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.
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The systematic functional characterisation of Xq28 genes prioritises candidate disease genes
nork: Wiemann Stefan, et al.
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Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism
nork: Katherine U Gaynor, et al.
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The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred.
nork: Cavaco, B, et al.
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Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families
nork: Bailey-Wilson Joan E, et al.
Argitaratua: (2012-06-01)

Kindred DNA Amplification from Two Distinct Populations of cDNA Fragments
nork: Ulo Puurand, et al.
Argitaratua: (2003-05-01)

Dent's like proximal renal tubular disorder in a First Nations' kindred.
nork: Hadad, K, et al.
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Hypoparathyroidism: genetics and diagnosis
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LINKAGE STUDIES IN A KINDRED FROM OKLAHOMA WITH FAMILIAL BENIGN HYPOCALCIURIC HYPERCALCEMIA (FBH) INDICATE GENETIC-HETEROGENEITY AND A 3RD LOCUS FOR FBH
nork: Trump, D, et al.
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Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
nork: Bowl, MR, et al.
Argitaratua: (2010)