Δημοσιεύσεις

Κατάλογος ενδεικτικών δημοσιεύσεων του τμήματος Ιατρικής ΑΠΘ σε διεθνή επιστημονικά περιοδικά κατά τα τελευταία 5 έτη.

Export 31 results:
Συντάκτης Τίτλος [ Τύπος(Desc)] Έτος
Φίλτρα: Keyword is Pedigree  [Clear All Filters]
Journal Article
Jennings, J. E., Georgitsi M., Holdaway I., Daly A. F., Tichomirowa M., Beckers A., et al. (2009).  Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germline R271W mutation in the AIP gene.. Eur J Endocrinol. 161(5), 799-804.
Georgitsi, M., De Menis E., Cannavò S., Mäkinen M. J., Tuppurainen K., Pauletto P., et al. (2008).  Aryl hydrocarbon receptor interacting protein (AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas.. Clin Endocrinol (Oxf). 69(4), 621-7.
Wirtz, M. K., Samples J. R., Toumanidou V., Charlesworth J., Mikropoulos D. G., Kaltsos K., et al. (2010).  Association of POAG risk factors and the Thr377Met MYOC mutation in an isolated Greek population.. Invest Ophthalmol Vis Sci. 51(6), 3055-60.
Haar, N. M. Ter, Eijkelboom C., Cantarini L., Papa R., Brogan P. A., Koné-Paut I., et al. (2019).  Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases.. Ann Rheum Dis. 78(10), 1405-1411.
Kontodiou, M., Daskalakis G., Vetro A., Paspaliaris V., Papaioannou G., Dagklis T., et al. (2015).  Complex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning Difficulties.. Cytogenet Genome Res. 147(2-3), 118-23.
Wang, S., Mandell J. D., Kumar Y., Sun N., Morris M. T., Arbelaez J., et al. (2018).  De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.. Cell Rep. 24(13), 3441-3454.e12.
Kazakos, K., Kotsa K., Yavropoulou M., Dionyssopoulos A., Grabs R., Yovos J., et al. (2012).  Familial clustering strongly suggests that the phenotypic variation of the 8344 A>G lys mitochondrial tRNA mutation is encoded in cis.. Ann Hum Genet. 76(4), 296-300.
Galli-Tsinopoulou, A., Krohn C., & Schmidt H. (2001).  Familial polythelia over three generations with polymastia in the youngest girl.. Eur J Pediatr. 160(6), 375-7.
Deretzi, G., Kountouras J., Koutlas E., Zavos C., Polyzos S., Rudolf J., et al. (2010).  Familial prevalence of autoimmune disorders in multiple sclerosis in Northern Greece.. Mult Scler. 16(9), 1091-101.
van Beek, N., Patsatsi A., Gupta Y., Möller S., Freitag M., Lemcke S., et al. (2015).  A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1?. PLoS One. 10(4), e0121253.
Bougea, A., Koros C., Stamelou M., Simitsi A., Papagiannakis N., Antonelou R., et al. (2017).  Frontotemporal dementia as the presenting phenotype of p.A53T mutation carriers in the alpha-synuclein gene.. Parkinsonism Relat Disord. 35, 82-87.
Bozi, M., Papadimitriou D., Antonellou R., Moraitou M., Maniati M., Vassilatis D. K., et al. (2014).  Genetic assessment of familial and early-onset Parkinson's disease in a Greek population.. Eur J Neurol. 21(7), 963-8.
Pontikides, N., Karras S., Kaprara A., Anagnostis P., Mintziori G., Goulis D. G., et al. (2014).  Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature.. J Bone Miner Metab. 32(4), 351-66.
Lipska, B. S., Iatropoulos P., Maranta R., Caridi G., Ozaltin F., Anarat A., et al. (2013).  Genetic screening in adolescents with steroid-resistant nephrotic syndrome.. Kidney Int. 84(1), 206-13.
Bettencourt, C., Salpietro V., Efthymiou S., Chelban V., Hughes D., Pittman A. M., et al. (2017).  Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.. Orphanet J Rare Dis. 12(1), 172.
Borg, J., Papadopoulos P., Georgitsi M., Gutiérrez L., Grech G., Fanis P., et al. (2010).  Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.. Nat Genet. 42(9), 801-5.
Speletas, M., Boukas K., Papadopoulou-Alataki E., Tsitsami E., & Germenis A. E. (2009).  Hereditary angioedema in Greek families caused by novel and recurrent mutations.. Hum Immunol. 70(11), 925-9.
Kruis, T., Klammt J., Galli-Tsinopoulou A., Wallborn T., Schlicke M., Müller E., et al. (2010).  Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation.. J Clin Endocrinol Metab. 95(3), 1137-42.
Makedou, K. G., Mikhailidis D. P., Makedou A., Iliadis S., Kourtis A., Vavatsi-Christaki N., et al. (2009).  Lipid profile, low-density lipoprotein oxidation and ceruloplasmin in the progeny of families with a positive history of cardiovascular diseases and/or hyperlipidemia.. Angiology. 60(4), 455-61.
Rouskas, K., Meyre D., Stutzmann F., Paletas K., Papazoglou D., Vatin V., et al. (2012).  Loss-of-function mutations in MC4R are very rare in the Greek severely obese adult population.. Obesity (Silver Spring). 20(11), 2278-82.
Gkaliagkousi, E., Erlic Z., Petidis K., Semertzidis P., Doumas M., Zamboulis C., et al. (2009).  Neurofibromatosis type 1: should we screen for other genetic syndromes? A case report of co-existence with multiple endocrine neoplasia 2A.. Eur J Clin Invest. 39(9), 828-32.
Guardoli, D., Argenziano G., Ponti G., Nasti S., Zalaudek I., Moscarella E., et al. (2015).  A novel CYLD germline mutation in Brooke-Spiegler syndrome.. J Eur Acad Dermatol Venereol. 29(3), 457-62.
Christoforidis, A., Skordis N., Fanis P., Dimitriadou M., Sevastidou M., Phelan M. M., et al. (2017).  A novel MKRN3 nonsense mutation causing familial central precocious puberty.. Endocrine. 56(2), 446-449.
Ash, D. B., Papadimitriou D., Hays A. P., Dimauro S., & Hirano M. (2012).  A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy.. Arch Neurol. 69(9), 1190-2.
Galli-Tsinopoulou, A., Hiort O., Schuster T., Messer G., & Kuhnle U. (2003).  A novel point mutation in the hormone binding domain of the androgen receptor associated with partial and minimal androgen insensitivity syndrome.. J Pediatr Endocrinol Metab. 16(2), 149-54.

Σελίδες

Επικοινωνία

Τμήμα Ιατρικής, Πανεπιστημιούπολη ΑΠΘ, T.K. 54124, Θεσσαλονίκη
 

Συνδεθείτε

Το τμήμα Ιατρικής στα κοινωνικά δίκτυα.
Ακολουθήστε μας ή συνδεθείτε μαζί μας.

           

Σύνδεσμοι

 

Το πανεπιστήμιο

 
 

Προσωπικό & Φοιτητές