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1-13 of 13
Keywords: X chromosome
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Journal Articles
Subject Area:
Genetics
Journal:
Human Heredity
Hum Hered (2024) 89 (1): 71–83.
Published Online: 14 June 2024
...-inactivation process and the partial likelihood ratio test proposed by Xu et al. accounting for nonrandom X-inactivation process. Then, we performed an X chromosome-wide association study on 9,261 individuals from the population-based cohort CARTaGENE to identify susceptibility loci for lung cancer among...
Journal Articles
Two Powerful Tests for Parent-of-Origin Effects at Quantitative Trait Loci on the X Chromosome
Available to Purchase
Journal:
Human Heredity
Hum Hered (2019) 83 (5): 250–273.
Published Online: 08 April 2019
... investigated for 20 years, but the development of statistical methods for detecting parent-of-origin effects on the X chromosome is relatively new. In the literature, a class of Q-XPAT-type tests are the only tests for the parent-of-origin effects for quantitative traits on the X chromosome. In this paper, we...
Journal Articles
Association Tests for X-Chromosomal Markers – A Comparison of Different Test Statistics
Available to PurchaseSubject Area:
Genetics
Journal:
Human Heredity
Hum Hered (2011) 71 (1): 23–36.
Published Online: 16 February 2011
...Christina Loley; Andreas Ziegler; Inke R. König Objective: Genome-wide association studies have successfully elucidated the genetic background of complex diseases, but X chromosomal data have usually not been analyzed. A reason for this is that there is no consensus approach for the analysis taking...
Journal Articles
DNA Haplotypes in the G6PD Gene Cluster Studied in the Chinese Li Population and their Relationship to G69PD Canton
Available to PurchaseSubject Area:
Genetics
Journal:
Human Heredity
Hum Hered (1994) 44 (5): 279–286.
Published Online: 03 September 2008
...Wangwei Cai; Stefania Filosa; Giuseppe Martini In an effort to investigate the subtelomeric region of the X chromosome among Orientals, five DNA sites in the F8C and G6PD genes were analyzed in a sample of 46 chromosomes belonging to the Chinese Li population, an ethnic group characterized...
Journal Articles
Consortium Fine Localization of X-Linked Charcot-Marie-Tooth Disease (CMTX1): Additional Support that Connexin32 Is the Defect in CMTX1
Available to PurchaseSubject Area:
Genetics
Margaret A. Pericak-Vance, David F. Barker, JoAnn Bergoffen, Phillip Chance, Susan Cochrane, Niklas Dahl, Mareike-Christine Exler, Pamela R. Fain, Nicholas D. Fairweather, Kenneth Fischbeck, Andreas Gal, Neva Haites, R. Ionasescu, Victor V. Ionasescu, Marina L. Kennerson, Anthony P. Monaco, M. Mostaccuiolo, Garth A. Nicholson, Anna Sillén, Jonathan L. Haines
Journal:
Human Heredity
Hum Hered (1995) 45 (3): 121–128.
Published Online: 03 September 2008
.... Mostaccuiolo; Garth A. Nicholson; Anna Sillén; Jonathan L. Haines Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. X-linked CMT (CMTX1) has been localized to the pericentric region of the X chromosome. Recently, mutations have been defined in the connexin 32...
Journal Articles
Variation in DNA Polymorphisms of the Short Arm of the Human X Chromosome: Genetic Affinity of Parsi from Western India
Available to PurchaseSubject Area:
Genetics
Journal:
Human Heredity
Hum Hered (1993) 43 (4): 239–243.
Published Online: 02 September 2008
...M. Al-Maghtheh; V. Ray; S.S. Mastana; M.D. Garralda; S.S. Bhattacharya; S.S. Papiha Four DNA probes (L754, p99-6, pERT87-l and pERT87-15) from the short arm of the human X chromosome were studied in two European (English and Spanish) and two Asiatic Indian (Maratha and Parsi) populations. All four...
Journal Articles
Leber’s Hereditary Optic Neuroretinopathy and the X-Chromosomal Susceptibility Factor: No Linkage to DXS7
Available to PurchaseSubject Area:
Genetics
M.R.S. Carvalho, B. Müller, E. Rötzer, T. Berninger, G. Kommerell, A. Blankenagel, M.-L. Savontaus, T. Meitinger, B. Lorenz
Journal:
Human Heredity
Hum Hered (1992) 42 (5): 316–320.
Published Online: 02 September 2008
... and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Leber’s hereditary optic neuroretinopathy LHON X chromosome Optic atrophy DXS7 DXS426 OTC Susceptibility...
Journal Articles
X Chromosome Restriction Fragment Length Polymorphisms in Five Racial Groups: Rare Variant Detected with the RC8 (DXS9) Probe in the Marathi Population, India
Available to PurchaseSubject Area:
Genetics
Journal:
Human Heredity
Hum Hered (1989) 39 (6): 309–312.
Published Online: 02 September 2008
...Renu Wadhwa; Surinder Papiha; Douglas Lester; Vijay Ray; N. Saha; Shomi Bhattacharya Restriction fragment length polymorphisms were investigated in five racial groups using the X chromosome probes DXS9 and DXS7. The allele frequencies of these polymorphisms showed significant differences and both...
Journal Articles
Four DNA Polymorphisms on the Short Arm of the X Chromosome: Allele Frequencies in a German and in a Turkish Population
Available to PurchaseSubject Area:
Genetics
Journal:
Human Heredity
Hum Hered (1987) 37 (6): 329–333.
Published Online: 02 September 2008
...M. Schürmann; Regina Warneke; E. Schwinger Four restriction fragment length polymorphisms, revealed by cloned arbitrary X chromosome segments (L1.28, RC8, pD2, 754) were studied in samples (50 individuals each) of a German and a Turkish population. All previously reported alleles...
Journal Articles
X del(q) Turner’s Syndrome in a 30-Month-Old Girl
Available to PurchaseSubject Area:
Genetics
Journal:
Human Heredity
Hum Hered (1977) 27 (5): 356–361.
Published Online: 28 August 2008
...F. Lošan; M. Macek; E. Seemanová; A. Zwinger A 30-month-old girl is presented with a deletion of the X chromosome at q 22 when examined by G- and Q-banding techniques. She exhibited dystrophia, mental and motor retardation, shortened extremities, lymphoedema, frontal protrusion of the forehead...
Journal Articles
The X Chromosome and the Eye: The Implications of Recent Microbiological Models for Clinical Ophthalmology
Available to PurchaseSubject Area:
Genetics
Journal:
Human Heredity
Hum Hered (1974) 24 (5-6): 289–414.
Published Online: 27 August 2008
...Mette Warburg A number of recent genetical experiments and microbiological models are directly applicable to human ophthalmogenetics. This is particularly the case in models and experiments involving X-chromosomal markers because X-chromosomal traits are well studied in the eye. The high prevalence...
Journal Articles
A Recoding Scheme for X-Linked and Pseudoautosomal Loci to Be Used with Computer Programs for Autosomal LOD-Score Analysis
Available to PurchaseSubject Area:
Genetics
Journal:
Human Heredity
Hum Hered (2004) 58 (1): 55–58.
Published Online: 13 December 2004
...Konstantin Strauch; Max P. Baur; Thomas F. Wienker We present a recoding scheme that allows for a parametric multipoint X-chromosomal linkage analysis of dichotomous traits in the context of a computer program for autosomes that can use trait models with imprinting. Furthermore, with this scheme...
Journal Articles
Genetic Linkage Analysis of Prostate Cancer Families to Xq27–28
Available to PurchaseSubject Area:
Genetics
Mette A. Peters, Gail P. Jarvik, Marta Janer, Lisa Chakrabarti, Suzanne Kolb, Ellen L. Goode, Mark Gibbs, Charles C. DuBois, Eugene F. Schuster, Leroy Hood, Elaine A. Ostrander, Janet L. Stanford
Journal:
Human Heredity
Hum Hered (2000) 51 (1-2): 107–113.
Published Online: 30 October 2000
... with prostate cancer, studies have yielded few clues as to the underlying etiologic factors or molecular defects involved. Prostate cancer X chromosome Genetic susceptibility HPCX Linkage analysis We are grateful for the cooperation of and time contributed by the men with prostate cancer...