Zobrazeno 1 - 10
of 98
pro vyhledávání: '"balanced translocations"'
Autor:
Ingrid Bendas Feres Lima, Lúcia de Fátima Marques de Moraes, Carlos Roberto da Fonseca, Juan Clinton Llerena Junior, Mana Mehrjouy, Niels Tommerup, Elenice Ferreira Bastos
Publikováno v:
Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-8 (2024)
Abstract Background Mesomelia-Synostoses Syndrome (MSS)(OMIM 600,383) is a rare autosomal dominant disorder characterized by mesomelic limb shortening, acral synostoses and multiple congenital malformations which is described as a contiguous deletion
Externí odkaz:
https://doaj.org/article/e84d1fd76bd94baeb08f9cf4c66b74fb
Akademický článek
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Publikováno v:
Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-5 (2021)
Abstract Background Recurrent spontaneous abortion (RSA) is often idiopathic, but structural chromosomal abnormality is an important nosogenesis. Balanced translocations or inversions can lead to unbalanced gametes depending on the specific recombina
Externí odkaz:
https://doaj.org/article/763aae432e354fab8c4b54f3aee47225
Publikováno v:
Fertility & Reproduction, Vol 3, Iss 1, Pp 19-24 (2021)
Embryonic mosaicism is defined as two or more distinct cell lines within an embryo, which is originally developed from a zygote. Although the potential of mosaic embryos still remain unclear, recent reports have proved that mosaic embryo transfer can
Externí odkaz:
https://doaj.org/article/66840365ff8e4390afbca884bdbbac31
Autor:
Olga Tšuiko, Tuuli Dmitrijeva, Katrin Kask, Pille Tammur, Neeme Tõnisson, Andres Salumets, Tatjana Jatsenko
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-6 (2019)
Abstract Background Balanced translocation carriers are burdened with fertility issues due to improper chromosome segregation in gametes, resulting in either implantation failure, miscarriage or birth of a child with chromosomal disorders. At the sam
Externí odkaz:
https://doaj.org/article/66d88dae38034ad9b1f51e9d474ee407
Akademický článek
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Akademický článek
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Autor:
Constantia Aristidou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Paola Evangelidou, Zoe Kosmaidou-Aravidou, Farkhondeh Behjati, Violetta Christophidou-Anastasiadou, George A. Tanteles, Carolina Sismani
Publikováno v:
Genes; Volume 14; Issue 1; Pages: 82
Familial apparently balanced translocations (ABTs) are usually not associated with a phenotype; however, rarely, ABTs segregate with discordant phenotypes in family members carrying identical rearrangements. The current study was a follow-up investig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7b35cc5903c90f768614d335ad17c5f
https://doi.org/10.3390/genes14010082
https://doi.org/10.3390/genes14010082
Autor:
Neeme Tõnisson, Tatjana Jatsenko, Pille Tammur, Tuuli Dmitrijeva, Olga Tšuiko, Katrin Kask, Andres Salumets
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-6 (2019)
Molecular Cytogenetics
Molecular Cytogenetics
Background Balanced translocation carriers are burdened with fertility issues due to improper chromosome segregation in gametes, resulting in either implantation failure, miscarriage or birth of a child with chromosomal disorders. At the same time, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffc199a63eb2082ee31875c751da8b16
http://link.springer.com/article/10.1186/s13039-019-0444-2
http://link.springer.com/article/10.1186/s13039-019-0444-2
Publikováno v:
Journal of Medical Case Reports
Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-5 (2021)
Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-5 (2021)
Background Recurrent spontaneous abortion (RSA) is often idiopathic, but structural chromosomal abnormality is an important nosogenesis. Balanced translocations or inversions can lead to unbalanced gametes depending on the specific recombination and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6e32cae73548c13140a5a840a214355
http://europepmc.org/articles/PMC8142492
http://europepmc.org/articles/PMC8142492