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

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

ग्रंथसूची विवरण
मुख्य लेखकों:	Dixon, P, Trump, D, Wooding, C, Mumm, S, Schlessinger, D, Whyte, M, Thakker, R
स्वरूप:	Journal article
प्रकाशित:	1996

समान संसाधन

Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
द्वारा: Trump, D, और अन्य
प्रकाशित: (1998)

Physical map of the Xq27 candidate region for X-linked recessive hypoparathyroidism in two kindreds merged by mitochondrial DNA analysis
द्वारा: Mumm, S, और अन्य
प्रकाशित: (1996)

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.
द्वारा: Thakker, R, और अन्य
प्रकाशित: (1990)

MAPPING OF THE X-LINKED IDIOPATHIC HYPOPARATHYROID GENE TO XQ26-XQ27 BY LINKAGE STUDIES
द्वारा: Thakker, R, और अन्य
प्रकाशित: (1989)

X-linked recessive hypoparathyroidism is caused by a molecular deletional-insertion involving chromosomes Xq27 and 2p25.
द्वारा: Bowl, MR, और अन्य
प्रकाशित: (2001)

New candidate genes for X-linked recessive hypoparathyroidism.
द्वारा: Mumm, S, और अन्य
प्रकाशित: (1999)

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.
द्वारा: Bowl, MR, और अन्य
प्रकाशित: (2005)

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

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

LINKAGE ANALYSIS OF 3 CLONED DNA-SEQUENCES, DXS294, CDR AND DXS105, IN X-LINKED RECESSIVE HYPOPARATHYROID FAMILIES
द्वारा: Thakker, R, और अन्य
प्रकाशित: (1991)

Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphataemic rickets.
द्वारा: Dixon, P, और अन्य
प्रकाशित: (1996)

LOCALIZATION OF THE GENE CAUSING X-LINKED RECESSIVE NEPHROLITHIASIS TO THE SHORT ARM OF THE X-CHROMOSOME (XP11.22)
द्वारा: Scheinman, S, और अन्य
प्रकाशित: (1992)

Mutations of the PEX regulatory and C-terminal regions cause X-linked hypophosphataemia.
द्वारा: Dixon, P, और अन्य
प्रकाशित: (1997)

X-linked hypophosphatemia (XLH): Mutations compromising PHEX structure reflect a severe phenotype
द्वारा: Whyte, M, और अन्य
प्रकाशित: (1999)

Expression and cloning of the human X-linked hypophosphatemia gene cDNA.
द्वारा: Grieff, M, और अन्य
प्रकाशित: (1997)

MAPPING OF 2 HEREDITARY RENAL TUBULAR DISORDERS ASSOCIATED WITH KIDNEY-STONES, AND REFERRED TO AS DENT-DISEASE AND X-LINKED RECESSIVE NEPHROLITHIASIS, TO CHROMOSOME-XP11
द्वारा: Thakker, R, और अन्य
प्रकाशित: (1994)

Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.
द्वारा: Scheinman, S, और अन्य
प्रकाशित: (1993)

Mutational analysis of PHEX gene in X-linked hypophosphatemia.
द्वारा: Dixon, P, और अन्य
प्रकाशित: (1998)

Characterization of two genes within the candidate region for X-linked spondyloepiphyseal dysplasia tarda.
द्वारा: Mumm, S, और अन्य
प्रकाशित: (1997)

Characterization of two genes within the candidate region for X-linked spondyloepiphyseal dysplasia tarda.
द्वारा: Mumm, S, और अन्य
प्रकाशित: (1997)

Two Patients with X Chromosome Duplication: dupXp and dupXq
द्वारा: Ozer O, और अन्य
प्रकाशित: (2009-01-01)

Studies of mice deleted for Sox3 and uc482: Relevance to X-linked hypoparathyroidism
द्वारा: Gaynor, KU, और अन्य
प्रकाशित: (2020)

Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism
द्वारा: Katherine U Gaynor, और अन्य
प्रकाशित: (2020-02-01)

PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.
द्वारा: Lindsay, S, और अन्य
प्रकाशित: (1996)

XIST IS NOT REQUIRED FOR THE MAINTENANCE OF X-INACTIVATION - ANALYSIS OF THE X-CHROMOSOME BREAKPOINT REGION AT XQ13 IN PATIENTS WITH ACQUIRED ISODICENTRIC X-CHROMOSOME ASSOCIATED WITH LEUKEMIA
द्वारा: Rider, S, और अन्य
प्रकाशित: (1993)

Identification and Characterization of Nine Novel X-Chromosomal Short Tandem Repeats on Xp21.1, Xq21.31, and Xq23 Regions
द्वारा: Qinrui Yang, और अन्य
प्रकाशित: (2021-11-01)

Construction of a YAC contig and an STS map spanning 3.6 megabase pairs in Xp22.1.
द्वारा: Trump, D, और अन्य
प्रकाशित: (1996)

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism.
द्वारा: Parkinson, D, और अन्य
प्रकाशित: (1992)

Clinical recognition of X-linked recessive nephrocalcinosis (XRN) in childhood.
द्वारा: Langlois, V, और अन्य
प्रकाशित: (1997)

X-linked hypophosphataemic rickets in a Saudi Arabian kindred results from a nonsense mutation of the PEX gene.
द्वारा: Dixon, P, और अन्य
प्रकाशित: (1997)

A LINKAGE STUDY USING DNA MARKERS LOCALIZES THE GENE FOR X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE AT XQ13-XQ22
द्वारा: Beckett, J, और अन्य
प्रकाशित: (1985)

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
द्वारा: Gibbons, R, और अन्य
प्रकाशित: (1992)

REPORT OF THE 6TH INTERNATIONAL WORKSHOP ON X-CHROMOSOME MAPPING 1995
द्वारा: Nelson, D, और अन्य
प्रकाशित: (1995)

Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients
द्वारा: Ming-Ching Shen, और अन्य
प्रकाशित: (2022-09-01)

Recurrent Microdeletions at Xq27.3-Xq28 and Male Infertility: A Study in the Czech Population.
द्वारा: Blanka Chylíková, और अन्य
प्रकाशित: (2016-01-01)

Isolation of the human chromosomal band Xq28 within somatic cell hybrids by fragile X site breakage.
द्वारा: Warren, S, और अन्य
प्रकाशित: (1990)

Hypoparathyroidism
द्वारा: Bilezikian, J, और अन्य
प्रकाशित: (1997)

Characterization of carrier females and affected males with X-linked recessive nephrolithiasis.
द्वारा: Reinhart, S, और अन्य
प्रकाशित: (1995)

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
द्वारा: Chih-Ping Chen
प्रकाशित: (2025-03-01)

Genome analysis and the human X chromosome.
द्वारा: Mandel, J, और अन्य
प्रकाशित: (1992)