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| Personal data sheet |
 Print previewVALIDITY EXPIRED
personal data approved: 2020. VI. 24. | Publications |
2020
 from data base, 2020. VI. 24. |
Balogh Eszter, Chandler Jennifer C., Varga Máté, Tahoun Mona, Menyhárd Dóra K., Schay Gusztáv, Goncalves Tomas, Hamar Renáta, Légrádi Regina, Szekeres Ákos, Gribouval Olivier, Kleta Robert, Stanescu Horia, Bockenhauer Detlef, Kerti Andrea, Williams Hywel, Kinsler Veronica, Di Wei-Li, Curtis David, Kolatsi-Joannou Maria, Hammid Hafsa, Szőcs Anna, Perczel Kristóf, Maka Erika, Toldi Gergely, Sava Florentina, Arrondel Christelle, Kardos Magdolna, Fintha Attila, Hossain Ahmed, D’Arco Felipe, Kaliakatsos Mario, Koeglmeier Jutta, Mifsud William, Moosajee Mariya, Faro Ana, Jávorszky Eszter, Rudas Gábor, Saied Marwa H., Marzouk Salah, Kelen Kata, Götze Judit, Reusz George, Tulassay Tivadar, Dragon François, Mollet Géraldine, Motameny Susanne, Thiele Holger, Dorval Guillaume, Nürnberg Peter, Perczel András, Szabó Attila J., Long David A., Tomita Kazunori, Antignac Corinne, Waters Aoife M., Tory Kálmán: Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA In press:
type of document:
language: English
URL |
2018
from data base, 2020. VI. 24. |
Szabó T, Orosz P, Balogh E, Jávorszky E, Máttyus I, Bereczki Cs, Maróti Z, Kalmár T, Szabó A, Reusz G, Várkonyi Ildikó, Marián E, Gombos É, Orosz O, Madar L, Balla Gy, Kappelmayer J, Tory K, Balogh I: Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies, PEDIATRIC NEPHROLOGY 33: (10) pp. 1713-1721.
type of document: Journal paper/Article
number of independent citations: 5
language: English
URL |
2018
from data base, 2020. VI. 24. |
Mikó Ágnes, K Menyhárd Dóra, Kaposi Ambrus, Antignac Corinne, Tory Kálmán: The mutation‐dependent pathogenicity of NPHS2 p.R229Q, HUMAN MUTATION 39: (12) pp. 1854-1860.
type of document:
number of independent citations: 1
language: English
URL |
2018
from data base, 2020. VI. 24. |
Stráner Pál, Balogh Eszter, Schay Gusztáv, Arrondel Christelle, Mikó Ágnes, L'Auné Gerda, Benmerah Alexandre, Perczel András, K Menyhárd Dóra, Antignac Corinne, Mollet Géraldine, Tory Kálmán: C-terminal oligomerization of podocin mediates interallelic interactions, BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1864: (7) pp. 2448-2457.
type of document: Journal paper/Article
number of independent citations: 1
language: English
URL |
2017
from data base, 2020. VI. 24. |
Javorszky E, Moriniere V, Kerti A, Balogh E, Piko H, Saunier S, Karcagi V, Antignac C, Tory K: QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions, CLINICAL CHEMISTRY AND LABORATORY MEDICINE 55: (6) pp. 809-816.
type of document: Journal paper/Article
number of independent citations: 2
language: English
URL |
2014
from data base, 2020. VI. 24. |
Tory K, Menyhard DK, Woerner S, Nevo F, Gribouval O, Kerti A, Straner P, Arrondel C, Cong EH, Tulassay T, Mollet G, Perczel A, Antignac C: Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome, NATURE GENETICS 46: (3) pp. 299-304.
type of document: Journal paper/Article
number of independent citations: 79
language: English
URL |
2009
from data base, 2020. VI. 24. |
Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Wolf MT, Utsch B, Becker C, Nurnberg G, Nurnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11), JOURNAL OF MEDICAL GENETICS 46: (10) pp. 663-670.
type of document: Journal paper/Article
number of independent citations: 63
language: English
URL |
2009
from data base, 2020. VI. 24. |
Tory K, Rousset-Rouviere C, Gubler MC, Moriniere V, Pawtowski A, Becker C, Guyot C, Gie S, Frishberg Y, Nivet H, Deschenes G, Cochat P, Gagnadoux MF, Saunier S, Antignac C, Salomon R: Mutations of NPHP2 and NPHP3 in infantile nephronophthisis., KIDNEY INTERNATIONAL 75: (8) pp. 839-847.
type of document: Journal paper/Article
number of independent citations: 54
language: English
URL |
2007
from data base, 2020. VI. 24. |
Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Bertheleme JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Ruther U, Schneider-Maunoury S, Attie-Bitach T, Saunier S: The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome., NATURE GENETICS 39: (7) pp. 875-881.
type of document:
number of independent citations: 249
language: English
URL |
2007
from data base, 2020. VI. 24. |
Tory K, Lacoste T, Burglen L, Moriniere V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S: High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis, JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY 18: (5) pp. 1566-1575.
type of document: Journal paper/Article
number of independent citations: 101
language: English
URL |
| | Number of independent citations to these publications: | 555 |
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