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Anna Přistoupilová

General University Hospital Prague
H指数:16
被引数:1,348

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Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis

单分子实时测序用于MUC1可变数目串联重复序列变异以改善常染色体显性肾小管间质性肾脏疾病的诊断

Journal of the American Society of Nephrology
IF9.4
2026-04-010
PRE
Vrbacka, Alena; Pristoupilova, Anna; Kidd, Kendrah O.; Janousek, Vaclav; Radina, Martin; Vyletal, Petr; Bitar, Ibrahim; Stranecky, Viktor; Steiner-Mrazova, Lenka; Treslova, Helena; Sovova, Jana; Hodanova, Katerina; Hartmannova, Hana; Musalkova, Dita; Svojsova, Klara; Kmochova, Tereza; Baresova, Veronika; Bleyer, Heidi; Taylor, Abby; Martin, Lauren; Sanchez, Antonio; Rysava, Romana; Lajtmanova, Innet; Rajnochova-Bloudickova, Silvie; Viklicky, Ondrej; Papagregoriou, Gregory; Deltas, Constantinos; Stavrou, Christoforos; Jorge, Sofia; Lopes, Jose Antonio; Rodrigues, Marcia; Elhassan, Elhussein; Clince, Michelle; Rowan, Colm; Conlon, Peter; Teltsh, Omri; Cavalleri, Gianpiero L.; Blumenstiel, Brendan; Toledo, Diana; DiStefano, Marina; DeFelice, Matthew; Zivna, Martina; Bleyer, Anthony J.; Kmoch, Stanislav
A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis
KIDNEY INTERNATIONAL REPORTS
IF5.7
2024-07-012
OAAI
Elhassan, Elhussein A. E.; Kmochova, Tereza; Benson, Katherine A.; Fennelly, Neil K.; Baresova, Veronika; Kidd, Kendrah; Doyle, Brendan; Dorman, Anthony; Morrin, Martina M.; Kyne, Niamh C.; Vyletal, Petr; Hartmannova, Hana; Hodanova, Katerina; Sovova, Jana; Musalkova, Dita; Vrbacka, Alena; Pristoupilova, Anna; Zivny, Jan; Svojsova, Klara; Radina, Martin; Stranecky, Viktor; Loginov, Dmitry; Pompach, Petr; Novak, Petr; Vanickova, Zdislava; Hansikova, Hana; Rajnochova-Bloudickova, Silvie; Viklicky, Ondrej; Hulkova, Helena; Cavalleri, Gianpiero L.; Hnizda, Ales; Bleyer, Anthony J.; Kmoch, Stanislav; Conlon, Peter J.; Zivna, Martina
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations

由于MUC1突变导致的常染色体显性肾小管间质肾病中的血浆粘蛋白-1 (CA15-3) 水平

AMERICAN JOURNAL OF NEPHROLOGY
IF3.2
2021-06-0711
OAAI
Vylet'al, Petr; Kidd, Kendrah; Ainsworth, Hannah C.; Springer, Drahomira; Vrbacka, Alena; Pristoupilova, Anna; Hughey, Rebecca P.; Alper, Seth L.; Lennon, Niall; Harrison, Steven; Harden, Maegan; Robins, Victoria; Taylor, Abbigail; Martin, Lauren; Howard, Katrice; Bitar, Ibrahim; Langefeld, Carl D.; Baresova, Veronika; Hartmannova, Hana; Hodanova, Katerina; Zima, Tomas; Zivna, Martina; Kmoch, Stanislav; Bleyer, Anthony J.
NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease

在患有神经元核内包涵体疾病的婴儿患者中，NOTCH2NLC CGG重复序列未扩大且皮肤活检为阴性

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
IF3
2020-08-228
OAAI
Jedlickova, Ivana; Pristoupilova, Anna; Hulkova, Helena; Vrbacka, Alena; Stranecky, Viktor; Hruba, Eva; Jesina, Pavel; Honzik, Tomas; Hrdlicka, Ivan; Fremuth, Jiri; Pivovarcikova, Kristyna; Bitar, Ibrahim; Matej, Radoslav; Kmoch, Stanislav; Sikora, Jakub
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2020-01-0910
OAAI
Jedlickova, Ivana; Cadieux-Dion, Maxime; Pristoupilova, Anna; Stranecky, Viktor; Hartmannova, Hana; Hodanova, Katerina; Baresova, Veronika; Hulkova, Helena; Sikora, Jakub; Noskova, Lenka; Musalkova, Dita; Vyletal, Petr; Sovova, Jana; Cossette, Patrick; Andermann, Eva; Andermann, Frederick; Kmoch, Stanislav
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology
HUMAN MUTATION
IF3.7
2019-05-1720
OAAI
Tort, Frederic; Ugarteburu, Olatz; Texido, Laura; Gea-Sorli, Sabrina; Garcia-Villoria, Judit; Ferrer-Cortes, Xenia; Arias, Angela; Matalonga, Leslie; Gort, Laura; Ferrer, Isidre; Guitart-Mampel, Mariona; Garrabou, Gloria; Vaz, Frederick M.; Pristoupilova, Ana; Esteban Rodriguez, Maria Isabel; Beltran, Sergi; Cardellach, Francesc; Wanders, Ronald J. A.; Fillat, Cristina; Teresa Garcia-Silva, Maria; Ribes, Antonia
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
IF9.4
2018-07-0236
OAAI
Zivna, Martina; Kidd, Kendrah; Pristoupilova, Anna; Baresova, Veronika; DeFelice, Mathew; Blumenstiel, Brendan; Harden, Maegan; Conlon, Peter; Lavin, Peter; Connaughton, Dervla M.; Hartmannova, Hana; Hodanova, Katerina; Stranecky, Viktor; Vrbacka, Alena; Vylet'al, Petr; Zivny, Jan; Votruba, Miroslav; Sovova, Jana; Hulkova, Helena; Robins, Victoria; Perry, Rebecca; Wenzel, Andrea; Beck, Bodo B.; Seeman, Tomas; Viklicky, Ondrej; Rajnochova-Bloudickova, Sylvie; Papagregoriou, Gregory; Deltas, Constantinos C.; Alper, Seth L.; Greka, Anna; Bleyer, Anthony J.; Kmoch, Stanislav
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)
NEUROLOGY
IF8.5
2016-08-0932
OAAI
Berkovic, Samuel F.; Staropoli, John F.; Carpenter, Stirling; Oliver, Karen L.; Kmoch, Stanislav; Anderson, Glenn W.; Damiano, John A.; Hildebrand, Michael S.; Sims, Katherine B.; Cotman, Susan L.; Bahlo, Melanie; Smith, Katherine R.; Cadieux-Dion, Maxime; Cossette, Patrick; Jedlickova, Ivana; Pristoupilova, Anna; Mole, Sara E.
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6

Fanconi综合征的Acadian变体是由线粒体呼吸链复合物I缺乏引起的，这是由于复合物I组装因子NDUFAF6中的非编码突变所致。

HUMAN MOLECULAR GENETICS
IF3.2
2016-07-2745
OAAI
Hartmannova, Hana; Piherova, Lenka; Tauchmannova, Kate Rina; Kidd, Kendrah; Acott, Philip D.; Crocker, John F. S.; Oussedik, Youcef; Mallet, Marcel; Hodanova, Katerina; Stranecky, Viktor; Pristoupilova, Anna; Baresova, Veronika; Jedlickova, Ivana; Zivna, Martina; Sovova, Jana; Hulkova, Helena; Robins, Vicki; Vrbacky, Marek; Pecina, Petr; Kaplanova, Vilma; Houstek, Josef; Mracek, Tomas; Thibeault, Yves; Bleyer, Anthony J.; Kmoch, Stanislav
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2016-07-01125
OAAI
Bolar, Nikhita Ajit; Golzio, Christelle; Zivna, Martina; Hayot, Gaelle; Van Hemelrijk, Christine; Schepers, Dorien; Vandeweyer, Geert; Hoischen, Alexander; Huyghe, Jeroen R.; Raes, Ann; Matthys, Erve; Sys, Emiel; Azou, Myriam; Gubler, Marie-Claire; Praet, Marleen; Van Camp, Guy; McFadden, Kelsey; Pediaditakis, Igor; Pristoupilova, Anna; Hodanova, Katerina; Vylet'al, Petr; Hartmannova, Hana; Stranecky, Viktor; Hulkova, Helena; Baresova, Veronika; Jedlickova, Ivana; Sovova, Jana; Hnizda, Ales; Kidd, Kendrah; Bleyer, Anthony J.; Spong, Richard S.; Vande Walle, Johan; Mortier, Geert; Brunner, Han; Van Laer, Lut; Kmoch, Stanislav; Katsanis, Nicholas; Loeys, Bart L.
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

全外显子组测序鉴定家族性结直肠癌新易感基因中的罕见致病变异

GENETICS IN MEDICINE
IF6.2
2015-02-0188
OAAI
Esteban-Jurado, Clara; Vila-Casadesus, Maria; Garre, Pilar; Lozano, Juan Jose; Pristoupilova, Anna; Beltran, Sergi; Munoz, Jenifer; Ocana, Teresa; Balaguer, Francesc; Lopez-Ceron, Maria; Cuatrecasas, Miriam; Franch-Exposito, Sebastia; Pique, Josep M.; Castells, Antoni; Carracedo, Angel; Ruiz-Ponte, Clara; Abuli, Anna; Bessa, Xavier; Andreu, Montserrat; Bujanda, Luis; Caldes, Trinidad; Castellvi-Bel, Sergi
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness
NATURE COMMUNICATIONS
IF15.7
2015-01-0971
OAAI
Kmoch, S.; Majewski, J.; Ramamurthy, V.; Cao, S.; Fahiminiya, S.; Ren, H.; MacDonald, I. M.; Lopez, I.; Sun, V.; Keser, V.; Khan, A.; Stranecky, V.; Hartmannova, H.; Pristoupilova, A.; Hodanova, K.; Piherova, L.; Kuchar, L.; Baxova, A.; Chen, R.; Barsottini, O. G. P.; Pyle, A.; Griffin, H.; Splitt, M.; Sallum, J.; Tolmie, J. L.; Sampson, J. R.; Chinnery, P.; Banin, E.; Sharon, D.; Dutta, S.; Grebler, R.; Helfrich-Foerster, C.; Pedroso, J. L.; Kretzschmar, D.; Cayouette, M.; Koenekoop, R. K.
New genes emerging for colorectal cancer predisposition
WORLD JOURNAL OF GASTROENTEROLOGY
IF5.4
2014-01-0132
OA
Esteban-Jurado, Clara; Garre, Pilar; Vila, Maria; Lozano, Juan Jose; Pristoupilova, Anna; Beltran, Sergi; Abuli, Anna; Munoz, Jenifer; Balaguer, Francesc; Ocana, Teresa; Castells, Antoni; Pique, Josep M.; Carracedo, Angel; Ruiz-Ponte, Clara; Bessa, Xavier; Andreu, Montserrat; Bujanda, Luis; Caldes, Trinidad; Castellvi-Bel, Sergi
Mutations in ANTXR1 Cause GAPO Syndrome
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2013-05-0167
OAAI
Stranecky, Viktor; Hoischen, Alexander; Hartmannova, Hana; Zaki, Maha S.; Chaudhary, Amit; Zudaire, Enrique; Noskova, Lenka; Baresova, Veronika; Pristoupilova, Anna; Hodanova, Katerina; Sovova, Jana; Hulkova, Helena; Piherova, Lenka; Hehir-Kwa, Jayne Y.; de Silva, Deepthi; Senanayake, Manouri P.; Farrag, Sameh; Zeman, Jiri; Martasek, Pavel; Baxova, Alice; Afifi, Hanan H.; St Croix, Brad; Brunner, Han G.; Temtamy, Samia; Kmoch, Stanislav
Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis (vol 89, pg 241, 2011)
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2011-10-012
OAAI
Noskova, Lenka; Stranecky, Viktor; Hartmannova, Hana; Pristoupilova, Anna; Baresova, Veronika; Ivanek, Robert; Hulkova, Helena; Jahnova, Helena; van der Zee, Julie; Staropoli, John F.; Sims, Katherine B.; Tyynelae, Jaana; Van Broeckhoven, Christine; Nijssen, Peter C. G.; Mole, Sara E.; Elleder, Milan; Kmoch, Stanislav
Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2011-08-01231
OAAI
Noskova, Lenka; Stranecky, Viktor; Hartmannova, Hana; Pristoupilova, Anna; Baresova, Veronika; Ivanek, Robert; Hulkova, Helena; Jahnova, Helena; van der Zee, Julie; Staropoli, John F.; Sims, Katherine B.; Tyynela, Jaana; Van Broeckhoven, Christine; Nijssen, Peter C. G.; Mole, Sara E.; Elleder, Milan; Kmoch, Stanislav

研究方向

暂未获取到该数据
S
Stanislav Kmoch
H 指数:48论文数:284被引数:7,494
V
Viktor Stránecký
H 指数:30论文数:187被引数:3,447
H
Hana Hartmannová
H 指数:22论文数:68被引数:2,374
H
Helena Hůlková
H 指数:28论文数:80被引数:3,187
V
Veronika Barešová
H 指数:21论文数:63被引数:2,403
K
Kateřina Hodaňová
H 指数:24论文数:69被引数:2,017
I
Ivana Jedličková
H 指数:10论文数:18被引数:421
J
Jana Sovová
H 指数:14论文数:39被引数:1,290
M
Martina Živná
H 指数:19论文数:69被引数:1,528
A
Anthony J. Bleyer
H 指数:57论文数:607被引数:1.3万