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| Personal data sheet |
 Print previewpersonal data approved: 2024. I. 02. | Publications |
2023
 from data base, 2024. I. 02. |
Beniczky Nikolett Jusztina, Sallai Ágnes, Bertalan Rita Ágnes: Silver–Russell-szindróma, GYERMEKORVOS TOVÁBBKÉPZÉS 22: (1) p. b.
type of document: Journal paper/Article
language: Hungarian
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2022
from data base, 2024. I. 02. |
Kovács Árpád Ferenc, Beniczky Nikolett Jusztina, Bertalan Rita Ágnes, Sallai Ágnes: A Silver-Russell-szindróma diagnosztikai lépései és terápiás lehetőségei egy családi halmozódást mutató eset kapcsán, ORVOSI HETILAP 163: (45) pp. 1775-1781.
type of document: Journal paper/Review paper
language: Hungarian
URL |
2021
from data base, 2024. I. 02. |
Tenenbaum-Rakover Yardena, Admoni Osnat, Elias-Assad Ghadir, London Shira, Noufi-Barhoum Marie, Ludar Hanna, Almagor Tal, Zehavi Yoav, Sultan Charles, Bertalan Rita, Bashamboo Anu, McElreavey Kenneth: The evolving role of whole-exome sequencing in the management of disorders of sex development, ENDOCRINE CONNECTIONS 10: (6) pp. 620-629.
type of document: Journal paper/Article
number of independent citations: 5
language: English
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2020
from data base, 2024. I. 02. |
McElreavey Ken, Jorgensen Anne, Eozenou Caroline, Merel Tiphanie, Bignon-Topalovic Joelle, Tan Daisylyn Senna, Houzelstein Denis, Buonocore Federica, Warr Nick, Kay Raissa G. G., Peycelon Matthieu, Siffroi Jean-Pierre, Mazen Inas, Achermann John C., Shcherbak Yuliya, Leger Juliane, Sallai Agnes, Carel Jean-Claude, Martinerie Laetitia, Le Ru Romain, Conway Gerard S., Mignot Brigitte, Van Maldergem Lionel, Bertalan Rita, Globa Evgenia, Brauner Raja, Jauch Ralf, Nef Serge, Greenfield Andy, Bashamboo Anu: Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome, GENETICS IN MEDICINE 22: (1) pp. 150-159.
type of document: Journal paper/Article
number of independent citations: 26
language: English
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2020
from data base, 2024. I. 02. |
Eozenou Caroline, Gonen Nitzan, Touzon Maria Sol, Jorgensen Anne, Yatsenko Svetlana A., Fusee Leila, Kamel Alaa K., Gellen Balazs, Guercio Gabriela, Singh Priti, Witchel Selma, Berman Andrea J., Mainpal Rana, Totonchi Mehdi, Meybodi Anahita Mohseni, Askari Masomeh, Merel-Chali Tiphanie, Bignon-Topalovic Joelle, Migale Roberta, Costanzo Mariana, Marino Roxana, Ramirez Pablo, Garrido Natalia Perez, Berensztein Esperanza, Mekkawy Mona K., Schimenti John C., Bertalan Rita, Mazen Inas, McElreavey Ken, Belgorosky Alicia, Lovell-Badge Robin, Rajkovic Aleksandar, Bashamboo Anu: Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 117: (24) pp. 13680-13688.
type of document:
number of independent citations: 27
language: English
URL |
2018
from data base, 2024. I. 02. |
Bashamboo A, Eozenou C, Jorgensen A, Bignon-Topalovic J, Siffroi JP, Hyon C, Tar A, Nagy P, Solyom J, Halasz Z, Paye-Jaouen A, Lambert S, Rodriguez-Buritica D, Bertalan R, Martinerie L, Rajpert-De Meyts E, Achermann JC, McElreavey K: Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children, AMERICAN JOURNAL OF HUMAN GENETICS 102: (3) pp. 487-493.
type of document: Journal paper/Article
number of independent citations: 44
language: English
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2010
from data base, 2024. I. 02. |
Bertalan Rita, Sallai Ágnes, Sólyom János, Lotz Gábor, Szabó István, Kovács Balázs, Szabó Éva, Patócs Attila, Rácz Károly: Hyperthyroidism Caused by a Germline Activating Mutation of the Thyrotropin Receptor Gene: Difficulties in Diagnosis and Therapy, THYROID 20: (3) pp. 327-332.
type of document: Journal paper/Article
number of independent citations: 16
language: English
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2009
from data base, 2024. I. 02. |
Bertalan R, Patocs A, Nagy B, Derzsy Z, Gullai N, Szappanos A, Rigo J Jr, Racz K: Overrepresentation of BclI polymorphism of the glucocorticoid receptor gene in pregnant women with HELLP syndrome., CLINICA CHIMICA ACTA 405: (1-2) pp. 148-152.
type of document:
number of independent citations: 11
language: English
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2008
from data base, 2024. I. 02. |
Bertalan R, Patocs A, Vasarhelyi B, Treszl A, Varga I, Szabo E, Tamas J, Toke J, Boyle B, Nobilis A, Rigo J Jr, Racz K: Association between birth weight in preterm neonates and the BclI polymorphism of the glucocorticoid receptor gene., JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY 111: (1-2) pp. 91-94.
type of document: Journal paper/Article
number of independent citations: 20
language: English
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2005
from data base, 2024. I. 02. |
Patocs A, Liko I, Varga I, Gergics P, Boros A, Futo L, Kun I, Bertalan R, Toth S, Pazmany T, Toth M, Szucs N, Horanyi J, Glaz E, Racz K: Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing, JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY 97: (3) pp. 257-265.
type of document: Journal paper/Article
number of independent citations: 32
language: English
URL |
| | Number of independent citations to these publications: | 181 |
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