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1Academic Journal
Authors: N. V. Shilova, V. G. Antonenko, M. E. Minzhenkova, D. V. Zaletaev, Н. В. Шилова, В. Г. Антоненко, М. Е. Миньженкова, Д. В. Залетаев
Contributors: The study was supported by the State Task №122032300370-1 “Study of structure-functional features and mechanisms of formation of the chromosomal abnormalities and genomic imbalance”., Исследование проведено в рамках темы государственного задания №122032300370-1 «Изучение структурно-функциональных особенностей и механизмов формирования хромосомных аномалий и геномного дисбаланса».
Source: Medical Genetics; Том 22, № 4 (2023); 3-10 ; Медицинская генетика; Том 22, № 4 (2023); 3-10 ; 2073-7998
Subject Terms: стандартное цитогенетическое исследование, ISCN 2016, international system of human cytogenomic nomenclature, chromosomal abnormalities, standard cytogenetic study, международная система цитогеномной номенклатуры человека, хромосомные аномалии
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Relation: https://www.medgen-journal.ru/jour/article/view/2280/1705; ISCN 2020 – An International System for Human Cytogenomic Nomenclature (2020) Ed. McGovan-Jordan J., Hastings R.J., Moore S. Karger. 2020.; ISCN 2016 – An International System for Human Cytogenomic Nomenclature (2016) Ed. McGovan-Jordan J., Simons A, Schmid M. Karger. 2016.; ISCN Online. https://iscn.karger.com/; Miller K., Madan K. ISCN 2020 compared to ISCN 2016. European Cytogeneticists Association Newsletter. 2021; 47:2-11.; Erratum. Cytogenet Genome Res. 2021;161:476-477; Silva M., de Leeuw N., Mann K. et al. European guidelines for constitutional cytogenomic analysis. Eur J Hum Genet. 2019;27:1-16.
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2Academic Journal
Source: Nauchno-prakticheskii zhurnal «Medicinskaia genetika». :62-68
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3Academic Journal
Authors: M. E. Minzhenkova, Z. G. Markova, E. L. Dadali, N. V. Shilova, М. Е. Миньженкова, Ж. Г. Маркова, Е. Л. Дадали, Н. В. Шилова
Source: Medical Genetics; Том 17, № 2 (2018); 12-17 ; Медицинская генетика; Том 17, № 2 (2018); 12-17 ; 2073-7998
Subject Terms: fluorescence in situ hybridization, интерхромосомные инсерции, стандартное цитогенетическое исследование, хромосомный микроматричный анализ, флуоресцентная in situ гибридизация, interchromosomal insertional translocations, intrachromosomal insertional translocations, conventional cytogenetic studies, chromosomal microarray
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Relation: https://www.medgen-journal.ru/jour/article/view/392/287; Kang SHL, Show C. Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. Am J Med Genet. 2010;(152A):1111-1126.; Van Hemel JО, Eussen HJ. Interchromosomal insertions. Identification of five cases and a review. Hum Genet. 2000;(107):415-432.; Gardner RJM, Sutherland GR. Chromosome abnormalities and genetic counseling 4th ed. 2012.; Madan K., Menko F.H. Intrachromosomal insertions: a case report and a review. Hum Genet. 1992;(89):1-9.; Ardalan A, Prieur M, Choiset A, et аl. Intrachromosomal insertion mimicking a pericentric inversion: molecular cytogenetic characterization of a three break rearrangement of chromosome 20. Am J Med Genet. 2005;(138A):288-293.; Madan K, Nieuwint AWM. Reproductive risks for paracentric inversion heterozygotes: inversion or insertion? That is the question. Am J Med Genet. 2002;(107):340-343.; Shaffer L. An international system for human cytogenetic nomenclature (ISCN). Int. Karger. 2013.; Nowakowska BA, de Leeuw N, Ruivenkamp CAL et аl. Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies Eur J Hum Genet. 2012;(20):166-170.; Melotte C, Debrock S, D’Hooghe T, et аl. Preimplantation genetic diagnosis for an insertional translocation carrier. Hum Reprod. 2004;(19):2777-2783.; Friedrich U, Houman M. Microdissection of chromosome 2-between-arm intrachromosomal insertion. Eur J Hum Genet. 2000;(8):393-395.; Therkelsen AJ, Hultеn M, Jonasson J, et аl. Presumptive direct insertion within chromosome 2 in man. Ann Hum Genet. 1973;(36):367-373.; Pai GS, Rogers JF, Sommer A. Identical multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to del(2)(q32) in two sisters with intrachromosomal insertional translocation in their father. Am J Med Genet. 1983;(14):189-195.; Manolakos E, Vetro A, Papadopoulou E. Partial trisomy 2p and рartial monosomy 2q аrising from a рaternal intrachromosomal 2q-into-2p between-аrm insertion and рaracentric inversion: molecular cytogenetic characterization of a four-break rearrangement. Cytogenet Genome Res. 2013;(140):12-20.
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4Academic Journal
Authors: Кохно, Алина, Пименова, М., Паровичникова, Е., Домрачева, Е., Савченко, В.
Subject Terms: МИЕЛОДИСПЛАСТИЧЕСКИЙ СИНДРОМ, СКРЫТЫЕ АНОМАЛИИ КАРИОТИПА, СТАНДАРТНОЕ ЦИТОГЕНЕТИЧЕСКОЕ ИССЛЕДОВАНИЕ, ФЛЮОРЕСЦЕНТНАЯ IN SITU ГИБРИДИЗАЦИЯ (FISH), МИЕЛОДИСПЛАСТИЧЕСКИЙ СИНДРОМ С ИЗОЛИРОВАННОЙ DEL(5Q), FLUORESCENT IN SITU HYBRIDIZATION (FISH), MYELODYSPLASTIC SYNDROME WITH ISOLATED DEL(5Q)
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5Academic Journal
Source: Гематология и трансфузиология.
Subject Terms: 03 medical and health sciences, 0302 clinical medicine, МИЕЛОДИСПЛАСТИЧЕСКИЙ СИНДРОМ, СКРЫТЫЕ АНОМАЛИИ КАРИОТИПА, СТАНДАРТНОЕ ЦИТОГЕНЕТИЧЕСКОЕ ИССЛЕДОВАНИЕ, ФЛЮОРЕСЦЕНТНАЯ IN SITU ГИБРИДИЗАЦИЯ (FISH), МИЕЛОДИСПЛАСТИЧЕСКИЙ СИНДРОМ С ИЗОЛИРОВАННОЙ DEL(5Q), FLUORESCENT IN SITU HYBRIDIZATION (FISH), MYELODYSPLASTIC SYNDROME WITH ISOLATED DEL(5Q), 3. Good health
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