279 related articles for article (PubMed ID: 25270717)
1. Copy-number variation associated with congenital anomalies of the kidney and urinary tract.
Caruana G; Wong MN; Walker A; Heloury Y; Webb N; Johnstone L; James PA; Burgess T; Bertram JF
Pediatr Nephrol; 2015 Mar; 30(3):487-95. PubMed ID: 25270717
[TBL] [Abstract][Full Text] [Related]
2. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Bekheirnia MR; Bekheirnia N; Bainbridge MN; Gu S; Coban Akdemir ZH; Gambin T; Janzen NK; Jhangiani SN; Muzny DM; Michael M; Brewer ED; Elenberg E; Kale AS; Riley AA; Swartz SJ; Scott DA; Yang Y; Srivaths PR; Wenderfer SE; Bodurtha J; Applegate CD; Velinov M; Myers A; Borovik L; Craigen WJ; Hanchard NA; Rosenfeld JA; Lewis RA; Gonzales ET; Gibbs RA; Belmont JW; Roth DR; Eng C; Braun MC; Lupski JR; Lamb DJ
Genet Med; 2017 Apr; 19(4):412-420. PubMed ID: 27657687
[TBL] [Abstract][Full Text] [Related]
3. Pattern of clinical presentation of congenital anomalies of the kidney and urinary tract among infants and children.
Soliman NA; Ali RI; Ghobrial EE; Habib EI; Ziada AM
Nephrology (Carlton); 2015 Jun; 20(6):413-8. PubMed ID: 25645028
[TBL] [Abstract][Full Text] [Related]
4. Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution.
Ishiwa S; Sato M; Morisada N; Nishi K; Kanamori T; Okutsu M; Ogura M; Sako M; Kosuga M; Kamei K; Ito S; Nozu K; Iijima K; Ishikura K
Pediatr Nephrol; 2019 Aug; 34(8):1457-1464. PubMed ID: 30937553
[TBL] [Abstract][Full Text] [Related]
5. The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Verbitsky M; Westland R; Perez A; Kiryluk K; Liu Q; Krithivasan P; Mitrotti A; Fasel DA; Batourina E; Sampson MG; Bodria M; Werth M; Kao C; Martino J; Capone VP; Vivante A; Shril S; Kil BH; Marasà M; Zhang JY; Na YJ; Lim TY; Ahram D; Weng PL; Heinzen EL; Carrea A; Piaggio G; Gesualdo L; Manca V; Masnata G; Gigante M; Cusi D; Izzi C; Scolari F; van Wijk JAE; Saraga M; Santoro D; Conti G; Zamboli P; White H; Drozdz D; Zachwieja K; Miklaszewska M; Tkaczyk M; Tomczyk D; Krakowska A; Sikora P; Jarmoliński T; Borszewska-Kornacka MK; Pawluch R; Szczepanska M; Adamczyk P; Mizerska-Wasiak M; Krzemien G; Szmigielska A; Zaniew M; Dobson MG; Darlow JM; Puri P; Barton DE; Furth SL; Warady BA; Gucev Z; Lozanovski VJ; Tasic V; Pisani I; Allegri L; Rodas LM; Campistol JM; Jeanpierre C; Alam S; Casale P; Wong CS; Lin F; Miranda DM; Oliveira EA; Simões-E-Silva AC; Barasch JM; Levy B; Wu N; Hildebrandt F; Ghiggeri GM; Latos-Bielenska A; Materna-Kiryluk A; Zhang F; Hakonarson H; Papaioannou VE; Mendelsohn CL; Gharavi AG; Sanna-Cherchi S
Nat Genet; 2019 Jan; 51(1):117-127. PubMed ID: 30578417
[TBL] [Abstract][Full Text] [Related]
6.
Le Tanno P; Breton J; Bidart M; Satre V; Harbuz R; Ray PF; Bosson C; Dieterich K; Jaillard S; Odent S; Poke G; Beddow R; Digilio MC; Novelli A; Bernardini L; Pisanti MA; Mackenroth L; Hackmann K; Vogel I; Christensen R; Fokstuen S; Béna F; Amblard F; Devillard F; Vieville G; Apostolou A; Jouk PS; Guebre-Egziabher F; Sartelet H; Coutton C
J Med Genet; 2017 Jul; 54(7):502-510. PubMed ID: 28270404
[TBL] [Abstract][Full Text] [Related]
7. Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract.
Wu CW; Lim TY; Wang C; Seltzsam S; Zheng B; Schierbaum L; Schneider S; Mann N; Connaughton DM; Nakayama M; van der Ven AT; Dai R; Kolvenbach CM; Kause F; Ottlewski I; Stajic N; Soliman NA; Kari JA; El Desoky S; Fathy HM; Milosevic D; Turudic D; Al Saffar M; Awad HS; Eid LA; Ramanathan A; Senguttuvan P; Mane SM; Lee RS; Bauer SB; Lu W; Hilger AC; Tasic V; Shril S; Sanna-Cherchi S; Hildebrandt F
Eur Urol Open Sci; 2022 Oct; 44():106-112. PubMed ID: 36185583
[TBL] [Abstract][Full Text] [Related]
8. Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).
Kosfeld A; Kreuzer M; Daniel C; Brand F; Schäfer AK; Chadt A; Weiss AC; Riehmer V; Jeanpierre C; Klintschar M; Bräsen JH; Amann K; Pape L; Kispert A; Al-Hasani H; Haffner D; Weber RG
Hum Genet; 2016 Jan; 135(1):69-87. PubMed ID: 26572137
[TBL] [Abstract][Full Text] [Related]
9. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
van der Ven AT; Connaughton DM; Ityel H; Mann N; Nakayama M; Chen J; Vivante A; Hwang DY; Schulz J; Braun DA; Schmidt JM; Schapiro D; Schneider R; Warejko JK; Daga A; Majmundar AJ; Tan W; Jobst-Schwan T; Hermle T; Widmeier E; Ashraf S; Amar A; Hoogstraaten CA; Hugo H; Kitzler TM; Kause F; Kolvenbach CM; Dai R; Spaneas L; Amann K; Stein DR; Baum MA; Somers MJG; Rodig NM; Ferguson MA; Traum AZ; Daouk GH; Bogdanović R; Stajić N; Soliman NA; Kari JA; El Desoky S; Fathy HM; Milosevic D; Al-Saffar M; Awad HS; Eid LA; Selvin A; Senguttuvan P; Sanna-Cherchi S; Rehm HL; MacArthur DG; Lek M; Laricchia KM; Wilson MW; Mane SM; Lifton RP; Lee RS; Bauer SB; Lu W; Reutter HM; Tasic V; Shril S; Hildebrandt F
J Am Soc Nephrol; 2018 Sep; 29(9):2348-2361. PubMed ID: 30143558
[TBL] [Abstract][Full Text] [Related]
10. 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.
Siomou E; Mitsioni AG; Giapros V; Bouba I; Noutsopoulos D; Georgiou I
Mol Med Rep; 2017 Jun; 15(6):3631-3636. PubMed ID: 28440405
[TBL] [Abstract][Full Text] [Related]
11. A homozygous HOXA11 variation as a potential novel cause of autosomal recessive congenital anomalies of the kidney and urinary tract.
Saygili S; Atayar E; Canpolat N; Elicevik M; Kurugoglu S; Sever L; Caliskan S; Ozaltin F
Clin Genet; 2020 Oct; 98(4):390-395. PubMed ID: 32666543
[TBL] [Abstract][Full Text] [Related]
12. Interleukin-10-1082A/G polymorphism is associated with renal parenchymal damage in congenital anomalies of the kidney and urinary tract.
Miteva LD; Kostadinova ES; Stanilova SA
Nephrology (Carlton); 2019 Feb; 24(2):213-220. PubMed ID: 29380920
[TBL] [Abstract][Full Text] [Related]
13. ACE serum level and I/D gene polymorphism in children with obstructive uropathies and other congenital anomalies of the kidney and urinary tract.
Kostadinova ES; Miteva LD; Stanilova SA
Nephrology (Carlton); 2017 Aug; 22(8):609-616. PubMed ID: 27206329
[TBL] [Abstract][Full Text] [Related]
14. High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT.
Bulum B; Ozçakar ZB; Ustüner E; Düşünceli E; Kavaz A; Duman D; Walz K; Fitoz S; Tekin M; Yalçınkaya F
Pediatr Nephrol; 2013 Nov; 28(11):2143-7. PubMed ID: 23812353
[TBL] [Abstract][Full Text] [Related]
15. Detection of copy number disorders associated with congenital anomalies of the kidney and urinary tract in fetuses via single nucleotide polymorphism arrays.
Cai M; Lin N; Su L; Wu X; Xie X; Li Y; Chen X; Dai Y; Lin Y; Huang H; Xu L
J Clin Lab Anal; 2020 Jan; 34(1):e23025. PubMed ID: 31506986
[TBL] [Abstract][Full Text] [Related]
16. SIX1 gene: absence of mutations in children with isolated congenital anomalies of kidney and urinary tract.
Negrisolo S; Centi S; Benetti E; Ghirardo G; Della Vella M; Murer L; Artifoni L
J Nephrol; 2014 Dec; 27(6):667-71. PubMed ID: 24899122
[TBL] [Abstract][Full Text] [Related]
17. [Genetic Basis of Congenital Anomalies of the Kidney and Urinary Tract].
Bodria M; Sanna-Cherchi S
G Ital Nefrol; 2015; 32 Suppl 64():. PubMed ID: 26479062
[TBL] [Abstract][Full Text] [Related]
18. Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract.
Dong S; Wang C; Li X; Shen Q; Fu X; Wu M; Song C; Yang N; Wu Y; Wang H; Jin L; Xu H; Zhang F
Mol Genet Genomics; 2019 Apr; 294(2):493-500. PubMed ID: 30604070
[TBL] [Abstract][Full Text] [Related]
19. Congenital Anomalies of the Kidney and Urinary Tract in Children Born Small for Gestational Age.
Janchevska A; Gucev Z; Tasevska-Rmus L; Tasic V
Pril (Makedon Akad Nauk Umet Odd Med Nauki); 2017 Mar; 38(1):53-57. PubMed ID: 28593895
[TBL] [Abstract][Full Text] [Related]
20. Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract.
Westland R; Renkema KY; Knoers NVAM
Clin J Am Soc Nephrol; 2020 Dec; 16(1):128-137. PubMed ID: 32312792
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
