Dr. Szakszon Katalin
Dr. Szakszon Katalin
University of Debrecen, Clinical Center, Pediatric Clinic
E-mail megerősítve itt: med.unideb.hu
Hivatkozott rá
Hivatkozott rá
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Genetics in Medicine 17 (8), 686, 2015
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
COC Loveday, C., Tatton-Brown, K., Clarke, M., Westwood, I., Renwick, A ...
Human Molecular Genetics 24 (17), 4775–4779, 2015
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
SM Maas, AC Shaw, H Bikker, HJ Lüdecke, K van der Tuin, ...
European journal of medical genetics 58 (5), 279-292, 2015
KAT6B is a tumor suppressor histone H3 lysine 23 acetyltransferase undergoing genomic loss in small cell lung cancer
L Simó-Riudalbas, M Pérez-Salvia, F Setien, A Villanueva, C Moutinho, ...
Cancer research 75 (18), 3936-3945, 2015
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome
D Lessel, FM Hisama, K Szakszon, B Saha, AB Sanjuanelo, BA Salbert, ...
Human mutation 36 (11), 1070-1079, 2015
Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene
S Mercimek‐Mahmutoglu, J Ndika, W Kanhai, TB de Villemeur, ...
Human mutation 35 (4), 462-469, 2014
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say‐Barber/Biesecker/Young‐Simpson syndrome
K Szakszon, C Salpietro, N Kakar, AC Knegt, É Oláh, B Dallapiccola, ...
American journal of medical genetics Part A 161 (4), 884-888, 2013
Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann–Pick C patient
K Szakszon, I Szegedi, Á Magyar, É Oláh, M Andrejkovics, P Balla, ...
european journal of paediatric neurology 18 (1), 75-78, 2014
New mutations in the ATM gene and clinical data of 25 AT patients
I Demuth, V Dutrannoy, W Marques, H Neitzel, D Schindler, PS Dimova, ...
neurogenetics 12, 273-282, 2011
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic …
D Lessel, AB Ozel, SE Campbell, A Saadi, MF Arlt, KM McSweeney, ...
Human genetics 137, 921-939, 2018
Clinical and genetic characteristics of craniosynostosis in Hungary
B Bessenyei, A Nagy, K Szakszon, A Mokánszki, E Balogh, A Ujfalusi, ...
American Journal of Medical Genetics Part A 167 (12), 2985-2991, 2015
A recurrent synonymous KAT6B mutation causes Say‐Barber‐Biesecker/Young‐Simpson syndrome by inducing aberrant splicing
R Yilmaz, A Beleza‐Meireles, S Price, R Oliveira, C Kubisch, ...
American journal of medical genetics Part A 167 (12), 3006-3010, 2015
Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome
K Szakszon, E Felszeghy, I Csízy, T Józsa, R Káposzta, E Balogh, É Oláh, ...
European journal of medical genetics 55 (2), 109-111, 2012
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome
DA Parry, L Tamayo-Orrego, P Carroll, JA Marsh, P Greene, O Murina, ...
Genes & development 34 (21-22), 1520-1533, 2020
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients
R Yilmaz, K Szakszon, A Altmann, U Altunoglu, L Senturk, M McGuire, ...
American Journal of Medical Genetics Part A 176 (1), 187-193, 2018
Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases
O Nagy, K Szakszon, BO Biró, G Mogyorósy, D Nagy, B Nagy, I Balogh, ...
Journal of biotechnology 299, 86-95, 2019
The satiety factor apolipoprotein A-IV modulates intestinal epithelial permeability through its interaction with α-catenin: Implications for inflammatory bowel diseases
E Orso, C Moehle, A Boettcher, K Szakszon, T Werner, T Langmann, ...
Hormone and metabolic research 39 (08), 601-611, 2007
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation
B Bessenyei, M Tihanyi, M Hartwig, K Szakszon, É Oláh
American Journal of Medical Genetics Part A 164 (12), 3176-3179, 2014
Blepharophimosis mental retardation syndrome Say‐Barber/Biesecker/Young‐Simpson type–New findings with neuroimaging
K Szakszon, E Berényi, A Jakab, B Bessenyei, E Balogh, T Köbling, ...
American Journal of Medical Genetics Part A 155 (3), 634-637, 2011
Early introduction of peritoneal dialysis may improve survival in severe sepsis
K Szakszon, I Csízy, T Szabó
Pediatric emergency care 25 (9), 599-602, 2009
A rendszer jelenleg nem tudja elvégezni a műveletet. Próbálkozzon újra később.
Cikkek 1–20