Výsledky vyhledávání - "Markos Mihalatos"

Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening

Autor: Sandro Orru, Emmanouil Manolakos, Markos Mihalatos, Nikolaos Ploumis, Michael B. Petersen, Pantelis Malligiannis, Nicolaos Plachouras, Harry Kontos, Ema Anastasiadou

Publikováno v: Prenatal Diagnosis. 28:556-558

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c366c862cac2d1ac6b7929d710b396a
https://doi.org/10.1002/pd.2020

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Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report

Autor: Sandro Orru, George Kitsos, Markos Mihalatos, Emmanouil Manolakos, Nadezda Kosyakova, Loreta Thomaidis, Rozita Neroutsou, Anja Weise, Haris Kokotas, Thomas Liehr, Michael B. Petersen

Publikováno v: Molecular Cytogenetics, Vol 1, Iss 1, p 24 (2008)
Molecular Cytogenetics

We report on a 7 years and 4 months old Greek boy with mild microcephaly and dysmorphic facial features. He was a sociable child with maxillary hypoplasia, epicanthal folds, upslanting palpebral fissures with long eyelashes, and hypertelorism. His ea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df03ba2ef250d5a6cfc302f43ffd5377
https://doi.org/10.1186/1755-8166-1-24

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Evaluation of dHPLC in mutation screening of the APC gene in a Greek FAP cohort

Autor: Markos, Mihalatos, Angela, Apessos, John K, Triantafillidis, Paris A, Kosmidis, George, Fountzilas, Niki J, Agnantis, Drakoulis, Yannoukakos, George, Nasioulas

Publikováno v: Anticancer research. 23(3B)

Germline mutations in the APC gene predispose to colorectal adenomas leading to cancer in over 80% of patients. A multitude of mutations, dispersed throughout the gene, have been described. We wanted to evaluate the usefulness of denaturing high perf

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::77650185cd264a81fde6f66241140469
https://pubmed.ncbi.nlm.nih.gov/12894559

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A change in the last base of BRCA1 exon 23, 5586G--A, results in abnormal RNA splicing

Autor: Angela, Ladopoulou, Irene, Konstantopoulou, Sofia, Armaou, Eleni, Efstathiou, Markos, Mihalatos, George, Nasioulas, Georgia, Bardi, Nikos, Pandis, Drakoulis, Yannoukakos, Athens

Publikováno v: Cancer genetics and cytogenetics. 134(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::783cba9a3b258d3f9cefad65e18c75dd
https://pubmed.ncbi.nlm.nih.gov/12034536

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X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?

Autor: George Ioannidis, Markos Mihalatos, Stylianos Tsagarakis, Olga Karapanou, Panagiotis Angelidakis, Dimitrios Papadopoulos, Marinella Tzanela, Smaragda Kamakari, Helen Michelakakis, Barbara Vlassopoulou

Publikováno v: ResearcherID

We present the clinical and hormonal findings of a young male with X-linked adrenoleukodystrophy (X-ALD), with special emphasis on the biochemical and clinical pattern of hypogonadism. A patient, with primary adrenal insufficiency since the age of 5

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cffc6406a6050723ee63ab8659b0b5ee
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=MEDLINE&KeyUT=MEDLINE:24722136&KeyUID=MEDLINE:24722136

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