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

Podrobná bibliografie
Hlavní autoři:	Mumm, S, Whyte, M, Thakker, R, Schlessinger, D
Médium:	Journal article
Vydáno:	1996

Podobné jednotky

Genetic mapping studies of the X-linked recessive hypoparathyroid gene on the X chromosome (Xq27).
Autor: Dixon, P, a další
Vydáno: (1996)

Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
Autor: Trump, D, a další
Vydáno: (1998)

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

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.
Autor: Thakker, R, a další
Vydáno: (1990)

New candidate genes for X-linked recessive hypoparathyroidism.
Autor: Mumm, S, a další
Vydáno: (1999)

X-linked recessive hypoparathyroidism is caused by a molecular deletional-insertion involving chromosomes Xq27 and 2p25.
Autor: Bowl, MR, a další
Vydáno: (2001)

MAPPING OF THE X-LINKED IDIOPATHIC HYPOPARATHYROID GENE TO XQ26-XQ27 BY LINKAGE STUDIES
Autor: Thakker, R, a další
Vydáno: (1989)

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.
Autor: Bowl, MR, a další
Vydáno: (2005)

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

LINKAGE ANALYSIS OF 3 CLONED DNA-SEQUENCES, DXS294, CDR AND DXS105, IN X-LINKED RECESSIVE HYPOPARATHYROID FAMILIES
Autor: Thakker, R, a další
Vydáno: (1991)

Expression and cloning of the human X-linked hypophosphatemia gene cDNA.
Autor: Grieff, M, a další
Vydáno: (1997)

Characterization of two genes within the candidate region for X-linked spondyloepiphyseal dysplasia tarda.
Autor: Mumm, S, a další
Vydáno: (1997)

Characterization of two genes within the candidate region for X-linked spondyloepiphyseal dysplasia tarda.
Autor: Mumm, S, a další
Vydáno: (1997)

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism.
Autor: Parkinson, D, a další
Vydáno: (1992)

Recurrent Microdeletions at Xq27.3-Xq28 and Male Infertility: A Study in the Czech Population.
Autor: Blanka Chylíková, a další
Vydáno: (2016-01-01)

Hypoparathyroidism
Autor: Bilezikian, J, a další
Vydáno: (1997)

A 5-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a 6-generation Arkansas kindred.
Autor: Mumm, S, a další
Vydáno: (2000)

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.
Autor: Mumm, S, a další
Vydáno: (2000)

Linear order of new and established DNA markers around the fragile site at Xq27.3.
Autor: Hirst, M, a další
Vydáno: (1991)

Genetic developments in hypoparathyroidism.
Autor: Thakker, R
Vydáno: (2001)

Molecular genetics of hypoparathyroidism
Autor: Thakker, R
Vydáno: (2003)

Distal Xq duplication and functional Xq disomy
Autor: Schluth-Bolard Caroline, a další
Vydáno: (2009-02-01)

A LINKAGE STUDY USING DNA MARKERS LOCALIZES THE GENE FOR X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE AT XQ13-XQ22
Autor: Beckett, J, a další
Vydáno: (1985)

Hypoparathyroidism
Autor: Mannstadt, M, a další
Vydáno: (2017)

LINKAGE STUDIES IN A KINDRED WITH AUTOSOMAL-DOMINANT SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD) INDICATE GENETIC-HETEROGENEITY
Autor: Gertner, J, a další
Vydáno: (1995)

ChrXq27.3 miRNA cluster functions in cancer development
Autor: Kosuke Yoshida, a další
Vydáno: (2021-03-01)

LINKAGE STUDIES IN A KINDRED WITH HYPOCALCIURIC HYPERCALCEMIA AND INCREASING SERUM PARATHYROID-HORMONE LEVELS INDICATE GENETIC-HETEROGENEITY
Autor: Trump, D, a další
Vydáno: (1993)

X-linked hypophosphataemic rickets in a Saudi Arabian kindred results from a nonsense mutation of the PEX gene.
Autor: Dixon, P, a další
Vydáno: (1997)

KINDRED IN DEATH /
Autor: Robb, J. D., 1950-, author 233833
Vydáno: (2009)

Studies of mice deleted for Sox3 and uc482: Relevance to X-linked hypoparathyroidism
Autor: Gaynor, KU, a další
Vydáno: (2020)

Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.
Autor: Gertner, J, a další
Vydáno: (1997)

The systematic functional characterisation of Xq28 genes prioritises candidate disease genes
Autor: Wiemann Stefan, a další
Vydáno: (2006-02-01)

Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism
Autor: Katherine U Gaynor, a další
Vydáno: (2020-02-01)

The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred.
Autor: Cavaco, B, a další
Vydáno: (2001)

Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families
Autor: Bailey-Wilson Joan E, a další
Vydáno: (2012-06-01)

Kindred DNA Amplification from Two Distinct Populations of cDNA Fragments
Autor: Ulo Puurand, a další
Vydáno: (2003-05-01)

Dent's like proximal renal tubular disorder in a First Nations' kindred.
Autor: Hadad, K, a další
Vydáno: (1997)

Hypoparathyroidism: genetics and diagnosis
Autor: Mannstadt, M, a další
Vydáno: (2022)

LINKAGE STUDIES IN A KINDRED FROM OKLAHOMA WITH FAMILIAL BENIGN HYPOCALCIURIC HYPERCALCEMIA (FBH) INDICATE GENETIC-HETEROGENEITY AND A 3RD LOCUS FOR FBH
Autor: Trump, D, a další
Vydáno: (1995)

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
Autor: Bowl, MR, a další
Vydáno: (2010)