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| Personal data sheet |
 Print previewpersonal data approved: 2023. VII. 18. | Publications |
2022
 from data base, 2023. VII. 18. |
Bessenyei Beata, Balogh Istvan, Mokanszki Attila, Ujfalusi Aniko, Pfundt Rolph, Szakszon Katalin: MED13L-related intellectual disability due to paternal germinal mosaicism, COLD SPRING HARBOR MOLECULAR CASE STUDIES 8: (1) a006124
type of document: Journal paper/Article
language: English
URL |
2021
from data base, 2023. VII. 18. |
Szűcs Zsuzsanna, Fitala Réka, Nyuzó Ágnes Renáta, Fodor Krisztina, Czemmel Éva, Vrancsik Nóra, Bessenyei Mónika, Szabó Tamás, Szakszon Katalin, Balogh István: Four New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary, GENES 12: (9) 1331
type of document: Journal paper/Article
number of independent citations: 3
language: English
URL |
2020
from data base, 2023. VII. 18. |
Ujfalusi Anikó, Nagy Orsolya, Bessenyei Beáta, Lente Györgyi, Kántor Irén, Borbély Ádám J., Szakszon Katalin: 22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum, MOLECULAR SYNDROMOLOGY 11: (3) pp. 146-152.
type of document: Journal paper/Article
number of independent citations: 2
language: English
URL |
2020
from data base, 2023. VII. 18. |
Parry David A., Tamayo-Orrego Lukas, Carroll Paula, Marsh Joseph A., Greene Philip, Murina Olga, Uggenti Carolina, Leitch Andrea, Káposzta Rita, Merő Gabriella, Nagy Andrea, Orlik Brigitta, Kovács-Pászthy Balázs, Quigley Alan J., Riszter Magdolna, Rankin Julia, Reijns Martin A.M., Szakszon Katalin, Jackson Andrew P.: PRIM1 deficiency causes a distinctive primordial dwarfism syndrome, GENES & DEVELOPMENT 34: (21-22) pp. 1520-1533.
type of document: Journal paper/Article
number of independent citations: 12
language: English
URL |
2019
from data base, 2023. VII. 18. |
Nagy Orsolya, Szakszon Katalin, Biró Brigitta Orsolya, Mogyorósy Gábor, Nagy Dóra, Nagy Bálint, Balogh István, Ujfalusi Anikó: Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases, JOURNAL OF BIOTECHNOLOGY 299: pp. 86-95.
type of document: Journal paper/Article
number of independent citations: 10
language: English
URL |
2018
from data base, 2023. VII. 18. |
Lessel Davor, Ozel Ayse Bilge, Campbell Susan E., Saadi Abdelkrim, Arlt Martin F., McSweeney Keisha Melodi, Plaiasu Vasilica, Szakszon Katalin, Szőllős Anna, Rusu Cristina, Rojas Armando J., Lopez-Valdez Jaime, Thiele Holger, Nürnberg Peter, Nickerson Deborah A., Bamshad Michael J., Li Jun Z., Kubisch Christian, Glover Thomas W., Gordon Leslie B.: Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations, HUMAN GENETICS 137: (11-12) pp. 921-939.
type of document: Journal paper/Article
number of independent citations: 5
language: English
URL |
2018
from data base, 2023. VII. 18. |
Rüstem Yilmaz, Katalin Szakszon, Anna Altmann, Umut Altunoglu, Leyli Senturk, Marianne McGuire, Olga Calabrese, Suneeta Madan-Khetarpal, Lina Basel-Vanagaite, Guntram Borck: Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients., AMERICAN JOURNAL OF MEDICAL GENETICS PART A 176: (1) pp. 187-193.
type of document: Journal paper/Article
number of independent citations: 7
language: English
URL |
2015
from data base, 2023. VII. 18. |
Lessel D, Hisama FM, Szakszon K, Saha B, Sanjuanelo AB, Salbert BA, Steele PD, Baldwin J, Brown WT, Piussan C, Plauchu H, Szilvássy J, Horkay E, Högel J, Martin GM, Herr AJ, Oshima J, Kubisch C: POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome., HUMAN MUTATION 36: (11) pp. 1070-1079.
type of document: Journal paper/Article
number of independent citations: 36
language: English
URL |
2015
from data base, 2023. VII. 18. |
Yilmaz Ruestem, Beleza-Meireles Ana, Price Susan, Oliveira Renata, Kubisch Christian, Clayton-Smith Jill, Szakszon Katalin, Borck Guntram: A Recurrent Synonymous KAT6B Mutation Causes Say-Barber-Biesecker/Young-Simpson Syndrome by Inducing Aberrant Splicing, AMERICAN JOURNAL OF MEDICAL GENETICS PART A 167: (12) pp. 3006-3010.
type of document: Journal paper/Article
number of independent citations: 6
language: English
URL |
2013
from data base, 2023. VII. 18. |
Szakszon K, Salpietro C, Kakar N, Knegt AC, Oláh É, Dallapiccola B, Borck G: De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome, AMERICAN JOURNAL OF MEDICAL GENETICS PART A 161A: (4) pp. 884-888.
type of document: Journal paper/Article
number of independent citations: 26
language: English
URL |
| | Number of independent citations to these publications: | 107 |
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