Zobrazeno 1 - 10 of 21 pro vyhledávání: '"Kamlesh Madan"'
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Akademický článek
True polyploid meiosis in the human male
Autor: Peter L. Pearson, Kamlesh Madan
Publikováno v: Genetics and Molecular Biology, Iss 0 (2018)
Abstract Polyploidy does not usually occur in germinal cells of mammals and other higher vertebrates. We describe a unique example of mosaic autotetraploidy in the meiosis of a human male. Although the original observations were made in the late 1960
Externí odkaz: https://doaj.org/article/1d27b8b58d334121b33cd8aa33b9568b
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3
Natural human chimeras: A review
Autor: Kamlesh Madan
Publikováno v: European Journal of Medical Genetics. 63:103971
The term chimera has been borrowed from Greek mythology and has a long history of use in biology and genetics. A chimera is an organism whose cells are derived from two or more zygotes. Recipients of tissue and organ transplants are artificial chimer
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62bbd51783413a9a2c3998db50370d78
https://doi.org/10.1016/j.ejmg.2020.103971
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4
Impact of prenatal technologies on the sex ratio in India: an overview
Autor: Kamlesh Madan, Martijn H. Breuning
Publikováno v: Genetics in Medicine
Genetics in Medicine, 16(6), 425-432
The fact that techniques of prenatal diagnosis are used in India and China to selectively eliminate females is widely known. It has been extensively reported in the international media and in scientific publications since the 1990s. The publication o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc6633e403176e7a693735965a5807ac
https://doi.org/10.1038/gim.2013.172
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5
Prenatal Diagnosis of Chromosome Abnormalities
Autor: Kamlesh Madan
Publikováno v: Prenatal Medicine ISBN: 9780429136221
Prenatal Medicine, 237-272
STARTPAGE=237;ENDPAGE=272;TITLE=Prenatal Medicine
Madan, K 2016, Prenatal diagnosis of chromosome abnormalities . in Prenatal Medicine . Prenatal Medicine, CRC Press, pp. 237-272 .
The correct human chromosome number was determined to be 46 in 1956 (1,2). In the following 10 years, most of the common chromosomal disorders such as Down syndrome, Turner syndrome, Edwards syndrome, Klinefelter syndrome, and Patau syndrome were ide
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d6e7774d81e8ae4355d02267e52e24f
https://doi.org/10.3109/9781420016369-19
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6
An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy
Autor: Christine E. M. de Die-Smulders, Annemieke H. van der Hout, Egbert Bakker, H.B. Ginjaar, Martijn H. Breuning, Apollonia T. J. M. Helderman-van den Enden, Kamlesh Madan
Publikováno v: European Journal of Human Genetics, 21(1), 21-26. Nature Publishing Group
European Journal of Human Genetics, 21(1), 21-6
European Journal of Human Genetics
Prenatal diagnosis for Duchenne muscular dystrophy (DMD) was introduced in the Netherlands in 1984. We have investigated the impact of 26 years (1984-2009) of prenatal testing. Of the 635 prenatal diagnoses, 51% were males; nearly half (46%) of these
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67589dc8876c283bb2db7aae5aedd465
https://doi.org/10.1038/ejhg.2012.101
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7
Balanced complex chromosome rearrangements: Reproductive aspects. A review
Autor: Kamlesh Madan
Publikováno v: American Journal of Medical Genetics Part A. :947-963
This review examines the reproductive consequences for carriers of a balanced complex chromosome rearrangement (CCR). It is based on an analysis of CCRs in 103 adults referred for reproductive problems, including male infertility. The main focus is o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07cb7f268aa9bee01f75383f2373fab7
https://doi.org/10.1002/ajmg.a.35220
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8
Multiple Genomic Aberrations in a Patient With Mental Retardation and Hypogonadism: 45,X/46,X,psu dic(Y) Karyotype, Thyroid Hormone Receptor Beta (THRB) Mutation and Heterozygosity for Wilson Disease
Autor: Theo J. Visser, Kerstin Hansson, Frederik J. Hes, Johannes W. A. Smit, I. Shan Rombout-Liem, Kamlesh Madan, Helena Sørensen, Egbert Bakker, Hans Kristian Ploos van Amstel, Karoly Szuhai
Publikováno v: American Journal of Medical Genetics Part A, 149A(10), 2231-2235. Wiley-Liss Inc.
We report on multiple genomic aberrations in a patient with mental retardation. In addition, he had hypogonadism, elevated thyroid hormone levels, hearing loss, delayed speech development and mild dysmorphic features. First, we identified a mosaic ka
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30f609de2b1b6f1109613ed7a627d639
https://doi.org/10.1002/ajmg.a.33004
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9
'Identical' twins with discordant karyotypes
Autor: A. W. M. Nieuwint, Rieteke M. van Zalen-Sprock, Kamlesh Madan, Pieter Hummel, Gerard Pals, John M.G. van Vugt, Yvonne M. Heins, Hans Van Der Harten
Publikováno v: Prenatal Diagnosis, 19, 72-76. John Wiley and Sons Ltd
Nieuwint, A, van Zalen-Sprock, R M, Hummel, P, Pals, G, van Vugt, J M G, van der Harten, H, Heins, Y & Madan, K 1999, ' 'Identical' twins with discordant karyotypes ', Prenatal Diagnosis, vol. 19, pp. 72-76 . https://doi.org/10.1002/(SICI)1097-0223(199901)19:1<72::AID-PD465>3.0.CO;2-V
A chromosomal abnormality in one of the fetuses of a monozygotic twin pregnancy is a rare phenomenon. In the prenatal unit of our cytogenetics laboratory we have recently come across two such heterokaryotypic twin pregnancies. In both cases ultrasoun
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78ceefb42e690259311d5a33d54d3048
https://doi.org/10.1002/(sici)1097-0223(199901)19:1<72::aid-pd465>3.0.co
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