The Experts below are selected from a list of 954 Experts worldwide ranked by ideXlab platform

P M Vanraden - One of the best experts on this subject based on the ideXlab platform.

  • evaluation of sire predicted transmitting abilities for evidence of X Chromosomal Inheritance in north american sire families
    Journal of Dairy Science, 2001
    Co-Authors: P J Boettcher, L K Jairath, P M Vanraden
    Abstract:

    This study tested for differences between genetic merits of sons and daughters of sires and for evidence of segregating quantitative trait loci on the X chromosomes of North American Holsteins. Son PTA adjusted for sire PTA was used as the dependent variable to test for biases and for genes that were passed from sire to daughter but not to son. The test of variability across sires of sons merely indicated an unaccounted source of variation, for which genes on X chromosomes might be responsible. Critical values for this test and power were determined by simulation for a variety of populations and traits differing in heritability, size of the X chromosome effect, and allelic frequency. Simulated genes on the X chromosome were detected with high power at intermediate frequencies of the favorable allele. The power of the test increased as the size of the effect increased and as genetic variance attributed to autosomes decreased. The test was then applied to recently evaluated data from US and Canadian Holstein populations. Genetic evaluations for >17,000 bulls from the US and >9000 from Canada were included. Results suggested that little eXtra variation was present for some traits formally evaluated in North America, but that genes on the X chromosome were unlikely to be the cause.

H Forsius - One of the best experts on this subject based on the ideXlab platform.

  • clinical and electroretinographic comparison between aland island eye disease and a newly found related disease with X Chromosomal Inheritance
    Acta Ophthalmologica, 2009
    Co-Authors: Synnove Carlson, Eija Vesti, Christina Raitta, M Donner, A W Eriksson, H Forsius
    Abstract:

    Two subjects representing AIED (Aland Island Eye Disease) and a family with 5 males affected with an AIED related X-linked hereditary eye disease were studied clinically and electrophysiologically. The clinical picture of AIED includes myopia and astigmatism, reduced visual acuity, nystagmus, ocular albinism, hemeralopia and dyschromatopsia (No. 300600, McKusick 1990). The subjects with the related disease showed astigmatism with or without myopia, reduced visual acuity, slight hemeralopia, normal color vision in 3/5 subjects, no ocular albinism and nystagmus only in one case. In both diseases the ERG was abnormal showing defective a- and b-waves, but there were also differences. The most notable was the greater reduction of the b-wave amplitude in the miXed (rod and cone) responses for the white stimulus in the ERG of the AIED related disease. With regard to the pathogenesis we propose that in both diseases rod and cone functions are defective but in an AIED related disease a defective cone function inhibits the transmission of the rod signals to the rod bipolars, causing greatly reduced miXed responses. The clinical and ERG findings of this study suggest that the 5 subjects of our family do not represent AIED but another X-linked hereditary eye disease. The investigation to find out the gene locus of this disease is going on.

P J Boettcher - One of the best experts on this subject based on the ideXlab platform.

  • evaluation of sire predicted transmitting abilities for evidence of X Chromosomal Inheritance in north american sire families
    Journal of Dairy Science, 2001
    Co-Authors: P J Boettcher, L K Jairath, P M Vanraden
    Abstract:

    This study tested for differences between genetic merits of sons and daughters of sires and for evidence of segregating quantitative trait loci on the X chromosomes of North American Holsteins. Son PTA adjusted for sire PTA was used as the dependent variable to test for biases and for genes that were passed from sire to daughter but not to son. The test of variability across sires of sons merely indicated an unaccounted source of variation, for which genes on X chromosomes might be responsible. Critical values for this test and power were determined by simulation for a variety of populations and traits differing in heritability, size of the X chromosome effect, and allelic frequency. Simulated genes on the X chromosome were detected with high power at intermediate frequencies of the favorable allele. The power of the test increased as the size of the effect increased and as genetic variance attributed to autosomes decreased. The test was then applied to recently evaluated data from US and Canadian Holstein populations. Genetic evaluations for >17,000 bulls from the US and >9000 from Canada were included. Results suggested that little eXtra variation was present for some traits formally evaluated in North America, but that genes on the X chromosome were unlikely to be the cause.

Ramos L. - One of the best experts on this subject based on the ideXlab platform.

  • Klinefelter syndrome and fertility-Impact of X-Chromosomal Inheritance on spermatogenesis
    'Wiley', 2018
    Co-Authors: Franik S, Smeets D., Zande G. Van De, D'hauwers K., Braat D.d.m., Fleischer K., Ramos L.
    Abstract:

    Item does not contain fullteXtWith the use of testicular sperm eXtraction (TESE), spermatozoa can be retrieved in about 30%-50% of men with Klinefelter syndrome (KS). The reason for the absence or presence of spermatozoa in half of the men with KS remains unknown. Therefore, the search for an objective marker for a positive prediction in finding spermatozoa is of significant clinical value to avoid unnecessary testicular biopsies in males with (mostly) low testicular volume and impaired testosterone. The objective of this study was to determine whether paternal or maternal Inheritance of the additional X-chromosome can predict the absence or presence of spermatogenesis in men with KS. Men with KS who have had a testicular biopsy for diagnostic fertility workup TESE were eligible for inclusion. Buccal swabs from nine KS patients and parents (trios) were taken to compare X-Chromosomal Inheritance to determine the parental origin of both X-chromosomes in the males with KS. Spermatozoa were found in TESE biopsies 8 of 35 (23%) patients after performing a unilateral or bilateral TESE. Different levels of spermatogenesis (from the only presence of spermatogonia, up to maturation arrest or hypospermatogenesis) appeared to be present in 19 of 35 (54%) men, meaning that the presence of spermatogenesis not always yields mature spermatozoa. From the nine KS-trios that were genetically analysed for X-Chromosomal Inheritance origin, no evidence of a correlation between the maternal or paternal origin of the additional X-chromosome and the presence of spermatogenesis was found. In conclusion, the maternal or paternal origin of the additional X-chromosome in men with KS does not predict the presence or absence of spermatogenesis

  • Klinefelter syndrome and fertility-Impact of X-Chromosomal Inheritance on spermatogenesis
    2018
    Co-Authors: Franik S, Smeets D., Zande G. Van De, D'hauwers K., Braat D.d.m., Fleischer K., Ramos L.
    Abstract:

    With the use of testicular sperm eXtraction (TESE), spermatozoa can be retrieved in about 30%-50% of men with Klinefelter syndrome (KS). The reason for the absence or presence of spermatozoa in half of the men with KS remains unknown. Therefore, the search for an objective marker for a positive prediction in finding spermatozoa is of significant clinical value to avoid unnecessary testicular biopsies in males with (mostly) low testicular volume and impaired testosterone. The objective of this study was to determine whether paternal or maternal Inheritance of the additional X-chromosome can predict the absence or presence of spermatogenesis in men with KS. Men with KS who have had a testicular biopsy for diagnostic fertility workup TESE were eligible for inclusion. Buccal swabs from nine KS patients and parents (trios) were taken to compare X-Chromosomal Inheritance to determine the parental origin of both X-chromosomes in the males with KS. Spermatozoa were found in TESE biopsies 8 of 35 (23%) patients after performing a unilateral or bilateral TESE. Different levels of spermatogenesis (from the only presence of spermatogonia, up to maturation arrest or hypospermatogenesis) appeared to be present in 19 of 35 (54%) men, meaning that the presence of spermatogenesis not always yields mature spermatozoa. From the nine KS-trios that were genetically analysed for X-Chromosomal Inheritance origin, no evidence of a correlation between the maternal or paternal origin of the additional X-chromosome and the presence of spermatogenesis was found. In conclusion, the maternal or paternal origin of the additional X-chromosome in men with KS does not predict the presence or absence of spermatogenesis

L K Jairath - One of the best experts on this subject based on the ideXlab platform.

  • evaluation of sire predicted transmitting abilities for evidence of X Chromosomal Inheritance in north american sire families
    Journal of Dairy Science, 2001
    Co-Authors: P J Boettcher, L K Jairath, P M Vanraden
    Abstract:

    This study tested for differences between genetic merits of sons and daughters of sires and for evidence of segregating quantitative trait loci on the X chromosomes of North American Holsteins. Son PTA adjusted for sire PTA was used as the dependent variable to test for biases and for genes that were passed from sire to daughter but not to son. The test of variability across sires of sons merely indicated an unaccounted source of variation, for which genes on X chromosomes might be responsible. Critical values for this test and power were determined by simulation for a variety of populations and traits differing in heritability, size of the X chromosome effect, and allelic frequency. Simulated genes on the X chromosome were detected with high power at intermediate frequencies of the favorable allele. The power of the test increased as the size of the effect increased and as genetic variance attributed to autosomes decreased. The test was then applied to recently evaluated data from US and Canadian Holstein populations. Genetic evaluations for >17,000 bulls from the US and >9000 from Canada were included. Results suggested that little eXtra variation was present for some traits formally evaluated in North America, but that genes on the X chromosome were unlikely to be the cause.