共 50 条
- [1] Copy-number variation associated with congenital anomalies of the kidney and urinary tract[J]. PEDIATRIC NEPHROLOGY, 2015, 30 (03) : 487 - 495Caruana, GeorginaWong, Milagros N.Walker, AmandaHeloury, YvesWebb, NathalieJohnstone, LilianJames, Paul A.Burgess, TrentBertram, John F.
- [2] The copy number variation landscape of congenital anomalies of the kidney and urinary tract[J]. NATURE GENETICS, 2019, 51 (01) : 117 - +Verbitsky, MiguelWestland, RikPerez, AlejandraKiryluk, KrzysztofLiu, QingxueKrithivasan, PriyaMitrotti, AdeleFasel, David A.Batourina, EkaterinaSampson, Matthew G.Bodria, MonicaWerth, MaxKao, CharllyMartino, JeremiahCapone, Valentina P.Vivante, AsafShril, ShirleeKil, Byum HeeMarasa, MaddalenaZhang, Jun Y.Na, Young-JiLim, Tze Y.Ahram, DinaWeng, Patricia L.Heinzen, Erin L.Carrea, AlbaPiaggio, GiorgioGesualdo, LoretoManca, ValeriaMasnata, GiuseppeGigante, MaddalenaCusi, DanieleIzzi, ClaudiaScolari, Francescovan Wijk, Joanna A. E.Saraga, MarijanSantoro, DomenicoConti, GiovanniZamboli, PasqualeWhite, HopeDrozdz, DorotaZachwieja, KatarzynaMiklaszewska, MonikaTkaczyk, MarcinTomczyk, DariaKrakowska, AnnaSikora, PrzemyslawJarmolinski, TomaszBorszewska-Kornacka, Maria K.Pawluch, Robert
- [3] The copy number variation landscape of congenital anomalies of the kidney and urinary tract[J]. Nature Genetics, 2019, 51 : 117 - 127Miguel VerbitskyRik WestlandAlejandra PerezKrzysztof KirylukQingxue LiuPriya KrithivasanAdele MitrottiDavid A. FaselEkaterina BatourinaMatthew G. SampsonMonica BodriaMax WerthCharlly KaoJeremiah MartinoValentina P. CaponeAsaf VivanteShirlee ShrilByum Hee KilMaddalena MarasàJun Y. ZhangYoung-Ji NaTze Y. LimDina AhramPatricia L. WengErin L. HeinzenAlba CarreaGiorgio PiaggioLoreto GesualdoValeria MancaGiuseppe MasnataMaddalena GiganteDaniele CusiClaudia IzziFrancesco ScolariJoanna A. E. van WijkMarijan SaragaDomenico SantoroGiovanni ContiPasquale ZamboliHope WhiteDorota DrozdzKatarzyna ZachwiejaMonika MiklaszewskaMarcin TkaczykDaria TomczykAnna KrakowskaPrzemyslaw SikoraTomasz JarmolińskiMaria K. Borszewska-KornackaRobert Pawluch
- [4] Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract[J]. Nature Genetics, 2019, 51 : 764 - 764Miguel VerbitskyRik WestlandAlejandra PerezKrzysztof KirylukQingxue LiuPriya KrithivasanAdele MitrottiDavid A. FaselEkaterina BatourinaMatthew G. SampsonMonica BodriaMax WerthCharlly KaoJeremiah MartinoValentina P. CaponeAsaf VivanteShirlee ShrilByum Hee KilMaddalena MarasaJun Y. ZhangYoung-Ji NaTze Y. LimDina AhramPatricia L. WengErin L. HeinzenAlba CarreaGiorgio PiaggioLoreto GesualdoValeria MancaGiuseppe MasnataMaddalena GiganteDaniele CusiClaudia IzziFrancesco ScolariJoanna A. E. van WijkMarijan SaragaDomenico SantoroGiovanni ContiPasquale ZamboliHope WhiteDorota DrozdzKatarzyna ZachwiejaMonika MiklaszewskaMarcin TkaczykDaria TomczykAnna KrakowskaPrzemyslaw SikoraTomasz JarmolińskiMaria K. Borszewska-KornackaRobert Pawluch
- [5] COPY-NUMBER VARIATION GENETIC ANALYSIS OF FAMILIAL PAEDIATRIC CASES OF CONGENITAL ANOMALIES OF THE KIDNEYAND URINARY TRACT[J]. PEDIATRIC NEPHROLOGY, 2015, 30 (09) : 1578 - 1578Siomou, EkateriniMitsioni, Artemis G.Bouba, IoannaSiamopoulou, AntigoniGeorgiou, Ioannis
- [6] Rare Copy Number Variants in Congenital Anomalies of the Kidney and Urinary Tract[J]. PEDIATRIC NEPHROLOGY, 2010, 25 (09) : 1911 - 1911Sanna-Cherchi, S.Burgess, K.Bodria, M.Kiryluk, K.Sterken, R.Weng, P. L.Kacak, N.Allegri, L.Scolari, F.Lifton, R. P.Latos-Bielenska, A.Tasic, V.Ghiggeri, G. M.Gharavi, A.
- [7] Copy-number variation analysis in familial nonsyndromic congenital anomalies of the kidney and urinary tract: Evidence for the causative role of a transposable element-associated genomic rearrangement[J]. MOLECULAR MEDICINE REPORTS, 2017, 15 (06) : 3631 - 3636Siomou, EkateriniMitsioni, Artemis G.Giapros, VasileiosBouba, IoannaNoutsopoulos, DimitriosGeorgiou, Ioannis
- [8] The copy number variation landscape of congenital anomalies of the kidney and urinary tract (vol 51, pg 117, 2018)[J]. NATURE GENETICS, 2019, 51 (04) : 764 - 764Verbitsky, MiguelWestland, RikPerez, AlejandraKiryluk, KrzysztofLiu, QingxueKrithivasan, PriyaMitrotti, AdeleFasel, David A.Batourina, EkaterinaSampson, Matthew G.Bodria, MonicaWerth, MaxKao, CharllyMartino, JeremiahCapone, Valentina P.Vivante, AsafShril, ShirleeKil, Byum HeeMarasa, MaddalenaZhang, Jun Y.Na, Young-JiLim, Tze Y.Ahram, DinaWeng, Patricia L.Heinzen, Erin L.Carrea, AlbaPiaggio, GiorgioGesualdo, LoretoManca, ValeriaMasnata, GiuseppeGigante, MaddalenaCusi, DanieleIzzi, ClaudiaScolari, Francescovan Wijk, Joanna A. E.Saraga, MarijanSantoro, DomenicoConti, GiovanniZamboli, PasqualeWhite, HopeDrozdz, DorotaZachwieja, KatarzynaMiklaszewska, MonikaTkaczyk, MarcinTomczyk, DariaKrakowska, AnnaSikora, PrzemyslawJarmolinski, TomaszBorszewska-Kornacka, Maria K.Pawluch, Robert
- [9] Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract[J]. EUROPEAN UROLOGY OPEN SCIENCE, 2022, 44 : 106 - 112Wu, Chen-Han WilfredLim, Tze Y.Wang, ChunyanSeltzsam, SteveZheng, BixiaSchierbaum, LucaSchneider, SophiaMann, NinaConnaughton, Dervla M.Nakayama, Makikovan der Ven, Amelie T.Dai, RufengKolvenbach, Caroline M.Kause, FranziskaOttlewski, IsabelStajic, NatasaSoliman, Neveen A.Kari, Jameela A.El Desoky, SherifFathy, Hanan M.Milosevic, DankoTurudic, DanielAl Saffar, MunaAwad, Hazem S.Eid, Loai A.Ramanathan, AravindSenguttuvan, PrabhaMane, Shrikant M.Lee, Richard S.Bauer, Stuart B.Lu, WeiningHilger, Alina C.Tasic, VeliborShril, ShirleeSanna-Cherchi, SimoneHildebrandt, Friedhelm
- [10] Copy-number variation in congenital heart disease[J]. CURRENT OPINION IN GENETICS & DEVELOPMENT, 2022, 77Ehrlich, LaurentPrakash, Siddharth K.