The Experts below are selected from a list of 300 Experts worldwide ranked by ideXlab platform
Ahmed Alfares - One of the best experts on this subject based on the ideXlab platform.
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Fraternal Twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
American journal of medical genetics. Part A, 2011Co-Authors: Laura Pilozzi-edmonds, Thomas A Maher, Raveen K Basran, Aubrey Milunsky, Khalid Al-thihli, Nancy E Braverman, Ahmed AlfaresAbstract:Aarskog-Scott syndrome is a rare X-linked recessive disorder with characteristic facial, skeletal, and genital abnormalities. We report on Aarskog-Scott syndrome in male Dizygotic Twins with an identical de novo mutation in FGD1 that resulted from germline mosaicism in the phenotypically normal mother. This is the first report of inheritance by germline mosaicism for the FGD1 gene.
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Fraternal Twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
American Journal of Medical Genetics Part A, 2011Co-Authors: Laura Pilozzi-edmonds, Thomas A Maher, Raveen K Basran, Aubrey Milunsky, Khalid Al-thihli, Nancy E Braverman, Ahmed AlfaresAbstract:Aarskog–Scott syndrome is a rare X-linked recessive disorder with characteristic facial, skeletal, and genital abnormalities. We report on Aarskog–Scott syndrome in male Dizygotic Twins with an identical de novo mutation in FGD1 that resulted from germline mosaicism in the phenotypically normal mother. This is the first report of inheritance by germline mosaicism for the FGD1 gene. © 2011 Wiley-Liss, Inc.
Laura Pilozzi-edmonds - One of the best experts on this subject based on the ideXlab platform.
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Fraternal Twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
American journal of medical genetics. Part A, 2011Co-Authors: Laura Pilozzi-edmonds, Thomas A Maher, Raveen K Basran, Aubrey Milunsky, Khalid Al-thihli, Nancy E Braverman, Ahmed AlfaresAbstract:Aarskog-Scott syndrome is a rare X-linked recessive disorder with characteristic facial, skeletal, and genital abnormalities. We report on Aarskog-Scott syndrome in male Dizygotic Twins with an identical de novo mutation in FGD1 that resulted from germline mosaicism in the phenotypically normal mother. This is the first report of inheritance by germline mosaicism for the FGD1 gene.
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Fraternal Twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
American Journal of Medical Genetics Part A, 2011Co-Authors: Laura Pilozzi-edmonds, Thomas A Maher, Raveen K Basran, Aubrey Milunsky, Khalid Al-thihli, Nancy E Braverman, Ahmed AlfaresAbstract:Aarskog–Scott syndrome is a rare X-linked recessive disorder with characteristic facial, skeletal, and genital abnormalities. We report on Aarskog–Scott syndrome in male Dizygotic Twins with an identical de novo mutation in FGD1 that resulted from germline mosaicism in the phenotypically normal mother. This is the first report of inheritance by germline mosaicism for the FGD1 gene. © 2011 Wiley-Liss, Inc.
Nicholas G. Martin - One of the best experts on this subject based on the ideXlab platform.
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no effects of prenatal hormone transfer on digit ratio in a large sample of same and opposite sex Dizygotic Twins
Personality and Individual Differences, 2008Co-Authors: John C Loehlin, Sarah E Medland, Nicholas G. MartinAbstract:Hormone-transfer theory proposes that the hormonal milieu of one twin may influence the other. In opposite-sex Twins it has been proposed that hormonal transfer may produce a masculinizing effect in females. The second-to-fourth-finger ratio (2D:4D) has been proposed as an index of the level of prenatal androgens and could, theoretically, be used to detect hormone transfer. Previous examinations in smaller samples provide conflicting evidence. The present study attempted to clarify these results in a large sample of same-sex and opposite-sex Dizygotic Twins (867 individuals). No significant differences were found in the means, variances or covariance of same- and opposite-sex Twins. Female 2D:4D was significantly higher than male (in both hands), as expected, but no sex effects were found on the variance or covariance. Thus, no evidence of hormonal transfer was found in this large twin sample.
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hla and genomewide allele sharing in Dizygotic Twins
American Journal of Human Genetics, 2006Co-Authors: Grant W Montgomery, Nicholas G. Martin, Dorret I Boomsma, Gu Zhu, Joukejan Hottenga, David L Duffy, Andrew C Heath, Peter M VisscherAbstract:Gametic selection during fertilization or the effects of specific genotypes on the viability of embryos may cause a skewed transmission of chromosomes to surviving offspring. A recent analysis of transmission distortion in humans reported significant excess sharing among full siblings. Dizygotic (DZ) twin pairs are a special case of the simultaneous survival of two genotypes, and there have been reports of DZ pairs with excess allele sharing around the HLA locus, a candidate locus for embryo survival. We performed an allele-sharing study of 1,592 DZ twin pairs from two independent Australian cohorts, of which 1,561 pairs were informative for linkage on chromosome 6. We also analyzed allele sharing in 336 DZ twin pairs from The Netherlands. We found no evidence of excess allele sharing, either at the HLA locus or in the rest of the genome. In contrast, we found evidence of a small but significant ( P =.003 for the Australian sample) genomewide deficit in the proportion of two alleles shared identical by descent among DZ twin pairs. We reconciled conflicting evidence in the literature for excess genomewide allele sharing by performing a simulation study that shows how undetected genotyping errors can lead to an apparent deficit or excess of allele sharing among sibling pairs, dependent on whether parental genotypes are known. Our results imply that gene-mapping studies based on affected sibling pairs that include DZ pairs will not suffer from false-positive results due to loci involved in embryo survival.
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the control of ovulation in mothers of Dizygotic Twins
The Journal of Clinical Endocrinology and Metabolism, 1996Co-Authors: Christopher Gilfillan, David Robertson, Henry G Burger, Maria A Leoni, Victor Hurley, Nicholas G. MartinAbstract:Dizygotic twinning is familial, suggesting that there may be an inherited abnormality of the control of ovulation that predisposes to double ovulation and, therefore, Dizygotic Twins. The present study examines 17 mothers of Dizygotic Twins (MODZT) and 8 control mothers of singletons by daily blood sampling throughout an entire menstrual cycle. Blood samples were assayed for LH, FSH, estradiol, progesterone, and inhibin. The process of follicular development was followed by transvaginal ultrasound. The pituitary LH response to iv GnRH was also assessed. Three of the 16 MODZT double ovulated during the study compared to none of the 8 control mothers (P < 0.05). The number of small follicles (<6 mm) declined significantly in control women at midcycle, but not in MODZT. There was no significant difference in serum FSH, LH, estradiol, or inhibin levels between the 2 groups at any stage of the menstrual cycle. During the follicular phase, serum progesterone levels were significantly higher in MODZT. The response to GnRH stimulation was not different between MODZT and controls. In conclusion, this study demonstrates an increased tendency to double ovulate in MODZT that may be due to a reduced rate of atresia in advanced follicles. Furthermore, the elevated progesterone levels in MODZT during the follicular phase suggest altered intrafollicular steroidogenesis that is independent of gonadotropins.
Aubrey Milunsky - One of the best experts on this subject based on the ideXlab platform.
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Fraternal Twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
American journal of medical genetics. Part A, 2011Co-Authors: Laura Pilozzi-edmonds, Thomas A Maher, Raveen K Basran, Aubrey Milunsky, Khalid Al-thihli, Nancy E Braverman, Ahmed AlfaresAbstract:Aarskog-Scott syndrome is a rare X-linked recessive disorder with characteristic facial, skeletal, and genital abnormalities. We report on Aarskog-Scott syndrome in male Dizygotic Twins with an identical de novo mutation in FGD1 that resulted from germline mosaicism in the phenotypically normal mother. This is the first report of inheritance by germline mosaicism for the FGD1 gene.
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Fraternal Twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
American Journal of Medical Genetics Part A, 2011Co-Authors: Laura Pilozzi-edmonds, Thomas A Maher, Raveen K Basran, Aubrey Milunsky, Khalid Al-thihli, Nancy E Braverman, Ahmed AlfaresAbstract:Aarskog–Scott syndrome is a rare X-linked recessive disorder with characteristic facial, skeletal, and genital abnormalities. We report on Aarskog–Scott syndrome in male Dizygotic Twins with an identical de novo mutation in FGD1 that resulted from germline mosaicism in the phenotypically normal mother. This is the first report of inheritance by germline mosaicism for the FGD1 gene. © 2011 Wiley-Liss, Inc.
Thomas A Maher - One of the best experts on this subject based on the ideXlab platform.
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Fraternal Twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
American journal of medical genetics. Part A, 2011Co-Authors: Laura Pilozzi-edmonds, Thomas A Maher, Raveen K Basran, Aubrey Milunsky, Khalid Al-thihli, Nancy E Braverman, Ahmed AlfaresAbstract:Aarskog-Scott syndrome is a rare X-linked recessive disorder with characteristic facial, skeletal, and genital abnormalities. We report on Aarskog-Scott syndrome in male Dizygotic Twins with an identical de novo mutation in FGD1 that resulted from germline mosaicism in the phenotypically normal mother. This is the first report of inheritance by germline mosaicism for the FGD1 gene.
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Fraternal Twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
American Journal of Medical Genetics Part A, 2011Co-Authors: Laura Pilozzi-edmonds, Thomas A Maher, Raveen K Basran, Aubrey Milunsky, Khalid Al-thihli, Nancy E Braverman, Ahmed AlfaresAbstract:Aarskog–Scott syndrome is a rare X-linked recessive disorder with characteristic facial, skeletal, and genital abnormalities. We report on Aarskog–Scott syndrome in male Dizygotic Twins with an identical de novo mutation in FGD1 that resulted from germline mosaicism in the phenotypically normal mother. This is the first report of inheritance by germline mosaicism for the FGD1 gene. © 2011 Wiley-Liss, Inc.