Fine mapping of the human SCIDX1 locus at Xq12-13.1.

Fine mapping of the human SCIDX1 locus at Xq12-13.1.

Previous linkage analysis of families with X-linked severe combined immunodeficiency (SCIDX1) mapped this locus to a large region encompassing about 10 to 20 cM at Xq12-21. We have analyzed in SCIDX1 families the segregation of 7 highly polymorphic microsatellites repeats localized to this region, i...

書誌詳細
主要な著者:	Markiewicz, S, DiSanto, J, Chelly, J, Fairweather, N, Le Marec, B, Griscelli, C, Graeber, M, Müller, U, Fischer, A, Monaco, A
フォーマット:	Journal article
言語:	English
出版事項:	1993

類似資料

YAC CONTIGS IN XQ12-]Q13.1
著者:: Rider, S, 等
出版事項: (1994)

Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1.
著者:: Haberhausen, G, 等
出版事項: (1995)

DELINEATION OF THE X-CHROMOSOMAL DYSTONIA-PARKINSONISM (XDP) SYNDROME LOCUS, DYT3, WITHIN YAC AND COSMID CONTIGS OF XQ13.1 AND ISOLATION OF CANDIDATE GENES
著者:: Muller, U, 等
出版事項: (1995)

CHARACTERIZATION OF MOLECULAR DNA REARRANGEMENTS, WITHIN THE XQ12-]Q13.1 REGION, IN 4 PATIENTS WITH X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA)
著者:: Thomas, N, 等
出版事項: (1993)

T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication
著者:: Xavier Rios, 等
出版事項: (2017-07-01)

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA) - ANALYSIS OF CYTOGENETIC REARRANGEMENTS IN 4 PATIENTS AND DEVELOPMENT OF A DETAILED PHYSICAL MAP WITHIN XQ12-Q13.1.
著者:: Thomas, N, 等
出版事項: (1993)

DXS106 AND DXS559 FLANK THE X-LINKED DYSTONIA-PARKINSONISM LOCUS, DYT3
著者:: Wagner, T, 等
出版事項: (1994)

Assignment of the gene (EPLG2) encoding a high-affinity binding protein for the receptor tyrosine kinase elk to a 200-kilobasepair region in human chromosome Xq12.
著者:: Fletcher, F, 等
出版事項: (1995)

Construction of a YAC contig spanning the Xq13.3 subband.
著者:: Villard, L, 等
出版事項: (1995)

Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)
著者:: Cetin Z, 等
出版事項: (2011-01-01)

DXS106 and DXS559 flank the X-linked dystonia-parkinsonism syndrome locus (DYT3).
著者:: Müller, U, 等
出版事項: (1994)

Isolation of DNTR polymorphisms from yeast artificial chromosomes encompassing X chromosomal loci PGK1 and DXS56.
著者:: Graeber, M, 等
出版事項: (1992)

Distal Xq duplication and functional Xq disomy
著者:: Schluth-Bolard Caroline, 等
出版事項: (2009-02-01)

Four dinucleotide repeat polymorphisms at the D7S804 locus.
著者:: Graeber, M, 等
出版事項: (1993)

2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes.
著者:: Lafrenière, R, 等
出版事項: (1993)

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
著者:: Rider, S, 等
出版事項: (1993)

MAPPING OF THE X-LINKED IDIOPATHIC HYPOPARATHYROID GENE TO XQ26-XQ27 BY LINKAGE STUDIES
著者:: Thakker, R, 等
出版事項: (1989)

19p13.1 is a triple-negative-specific breast cancer susceptibility locus.
著者:: Stevens, K, 等
出版事項: (2012)

Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia.
著者:: McDonell, N, 等
出版事項: (2000)

Identification and Characterization of Nine Novel X-Chromosomal Short Tandem Repeats on Xp21.1, Xq21.31, and Xq23 Regions
著者:: Qinrui Yang, 等
出版事項: (2021-11-01)

A 2.6-MB YAC CONTIG OF THE HUMAN X-INACTIVATION CENTER REGION IN XQ13 - PHYSICAL LINKAGE OF THE RPS4X, PHKA1, XIST, AND DXS128E GENES AND REFINEMENT OF THE XIC-CONTAINING INTERVAL
著者:: Lafreniere, R, 等
出版事項: (1993)

Updating the elite rice variety Kongyu 131 by improving the Gn1a locus
著者:: Xiaomin Feng, 等
出版事項: (2017-07-01)

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.
著者:: Thakker, R, 等
出版事項: (1990)

Recurrent Microdeletions at Xq27.3-Xq28 and Male Infertility: A Study in the Czech Population.
著者:: Blanka Chylíková, 等
出版事項: (2016-01-01)

Dinucleotide repeat polymorphisms from DXS106 and DXS227 YACs using a two stage approach.
著者:: Fairweather, N, 等
出版事項: (1993)

An N-terminally truncated envelope protein encoded by a human endogenous retrovirus W locus on chromosome Xq22.3
著者:: Roebke Christina, 等
出版事項: (2010-08-01)

Editorial 13.1
著者:: Maria Cristina Triguero Veloz Teixeira, 等
出版事項: (2011-04-01)

Créditos 13.1
著者:: Créditos 13.1
出版事項: (2014-03-01)

A LINKAGE STUDY USING DNA MARKERS LOCALIZES THE GENE FOR X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE AT XQ13-XQ22
著者:: Beckett, J, 等
出版事項: (1985)

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.
著者:: Lawrenson, K, 等
出版事項: (2016)

Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1.
著者:: Fuencisla Matesanz, 等
出版事項: (2012-01-01)

An X chromosome association scan of the Norfolk Island genetic isolate provides evidence for a novel migraine susceptibility locus at Xq12.
著者:: Bridget H Maher, 等
出版事項: (2012-01-01)

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus
著者:: Kate Lawrenson, 等
出版事項: (2016-09-01)

Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
著者:: Fairweather, N, 等
出版事項: (1994)

Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family.
著者:: Martínez, F, 等
出版事項: (2004)

Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome
著者:: Liu, Yanshan, 等
出版事項: (2022)

Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6.
著者:: Brzustowicz, L, 等
出版事項: (1992)

Fine-mapping of the 1p11.2 breast cancer susceptibility locus
著者:: Horne, H, 等
出版事項: (2016)

PP 1.31 – 00161 Chimeric proviral/human transcription events at the BACH2 integration locus in cellular models for chronic HIV infection
著者:: U. Lange, 等
出版事項: (2022-12-01)

B CELL DEFECTS IN A PATIENT WITH XQ24 DELETION
著者:: Anzilotti, C, 等
出版事項: (2012)