242 related articles for article (PubMed ID: 32164334)
1. Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract.
Ahn YH; Lee C; Kim NKD; Park E; Kang HG; Ha IS; Park WY; Cheong HI
J Clin Med; 2020 Mar; 9(3):. PubMed ID: 32164334
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.
Hwang DY; Dworschak GC; Kohl S; Saisawat P; Vivante A; Hilger AC; Reutter HM; Soliman NA; Bogdanovic R; Kehinde EO; Tasic V; Hildebrandt F
Kidney Int; 2014 Jun; 85(6):1429-33. PubMed ID: 24429398
[TBL] [Abstract][Full Text] [Related]
5. Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience.
Riedhammer KM; Ćomić J; Tasic V; Putnik J; Abazi-Emini N; Paripovic A; Stajic N; Meitinger T; Nushi-Stavileci V; Berutti R; Braunisch MC; Hoefele J
Eur J Hum Genet; 2023 Jun; 31(6):674-680. PubMed ID: 36922632
[TBL] [Abstract][Full Text] [Related]
6. Targeted Exome Sequencing Identifies
Heidet L; Morinière V; Henry C; De Tomasi L; Reilly ML; Humbert C; Alibeu O; Fourrage C; Bole-Feysot C; Nitschké P; Tores F; Bras M; Jeanpierre M; Pietrement C; Gaillard D; Gonzales M; Novo R; Schaefer E; Roume J; Martinovic J; Malan V; Salomon R; Saunier S; Antignac C; Jeanpierre C
J Am Soc Nephrol; 2017 Oct; 28(10):2901-2914. PubMed ID: 28566479
[TBL] [Abstract][Full Text] [Related]
7. Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract.
Narikot A; Pardeshi VC; Shubha AM; Iyengar A; Vasudevan A
BMC Nephrol; 2022 Jan; 23(1):1. PubMed ID: 34979951
[TBL] [Abstract][Full Text] [Related]
8. Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.
Werfel L; Martens H; Hennies I; Gjerstad AC; Fröde K; Altarescu G; Banerjee S; Valenzuela Palafoll I; Geffers R; Kirschstein M; Christians A; Bjerre A; Haffner D; Weber RG
Kidney Int Rep; 2023 Nov; 8(11):2439-2457. PubMed ID: 38025229
[TBL] [Abstract][Full Text] [Related]
9. Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Seltzsam S; Wang C; Zheng B; Mann N; Connaughton DM; Wu CW; Schneider S; Schierbaum L; Kause F; Kolvenbach CM; Nakayama M; Dai R; Ottlewski I; Schneider R; Deutsch K; Buerger F; Klämbt V; Mao Y; Onuchic-Whitford AC; Nicolas-Frank C; Yousef K; Pantel D; Lai EW; Salmanullah D; Majmundar AJ; Bauer SB; Rodig NM; Somers MJG; Traum AZ; Stein DR; Daga A; Baum MA; Daouk GH; Tasic V; Awad HS; Eid LA; El Desoky S; Shalaby M; Kari JA; Fathy HM; Soliman NA; Mane SM; Shril S; Ferguson MA; Hildebrandt F
Genet Med; 2022 Feb; 24(2):307-318. PubMed ID: 34906515
[TBL] [Abstract][Full Text] [Related]
10. Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract.
Lei TY; Fu F; Li R; Wang D; Wang RY; Jing XY; Deng Q; Li ZZ; Liu ZQ; Yang X; Li DZ; Liao C
Nephrol Dial Transplant; 2017 Oct; 32(10):1665-1675. PubMed ID: 28387813
[TBL] [Abstract][Full Text] [Related]
11. A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT).
Saygılı S; Koşukcu C; Baştuğ T; Doğan ÖA; Yılmaz EK; Kalyoncu AU; Ağbaş A; Canpolat N; Çalışkan S; Ozaltin F
Clin Genet; 2023 Dec; 104(6):679-685. PubMed ID: 37468454
[TBL] [Abstract][Full Text] [Related]
12. Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract.
Kohl S; Chen J; Vivante A; Hwang DY; Shril S; Dworschak GC; Van Der Ven A; Sanna-Cherchi S; Bauer SB; Lee RS; Soliman NA; Kehinde EO; Reutter HM; Tasic V; Hildebrandt F
Nephrol Dial Transplant; 2016 Aug; 31(8):1280-3. PubMed ID: 26908769
[TBL] [Abstract][Full Text] [Related]
13. Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.
Nicolaou N; Pulit SL; Nijman IJ; Monroe GR; Feitz WF; Schreuder MF; van Eerde AM; de Jong TP; Giltay JC; van der Zwaag B; Havenith MR; Zwakenberg S; van der Zanden LF; Poelmans G; Cornelissen EA; Lilien MR; Franke B; Roeleveld N; van Rooij IA; Cuppen E; Bongers EM; Giles RH; Knoers NV; Renkema KY
Kidney Int; 2016 Feb; 89(2):476-86. PubMed ID: 26489027
[TBL] [Abstract][Full Text] [Related]
14. Genetic, environmental, and epigenetic factors involved in CAKUT.
Nicolaou N; Renkema KY; Bongers EM; Giles RH; Knoers NV
Nat Rev Nephrol; 2015 Dec; 11(12):720-31. PubMed ID: 26281895
[TBL] [Abstract][Full Text] [Related]
15. Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project.
Huang Z; Shen Q; Wu B; Wang H; Dong X; Lu Y; Cheng G; Wang L; Lu W; Chen L; Kang W; Li L; Pan X; Wei Q; Zhuang D; Chen D; Yin Z; Yang L; Ni Q; Liu R; Li G; Zhang P; Qian Y; Peng X; Wang Y; Cao Y; Xu H; Hu L; Yang L; Zhou W
Kidney Int Rep; 2023 Nov; 8(11):2376-2384. PubMed ID: 38025242
[TBL] [Abstract][Full Text] [Related]
16. [Analysis of 26 fetuses with congenital anomalies of the kidney and urinary tract by whole exome sequencing].
Lei T; Fu F; Li R; Wang D; Yang D; Wang F; Yang X; Pan M; Zhen L; Han J; Li D; Liao C
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Dec; 35(6):856-859. PubMed ID: 30512163
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).
Wu CW; Mann N; Nakayama M; Connaughton DM; Dai R; Kolvenbach CM; Kause F; Ottlewski I; Wang C; Klämbt V; Seltzsam S; Lai EW; Selvin A; Senguttuva P; Bodamer O; Stein DR; El Desoky S; Kari JA; Tasic V; Bauer SB; Shril S; Hildebrandt F
Genet Med; 2020 Oct; 22(10):1673-1681. PubMed ID: 32475988
[TBL] [Abstract][Full Text] [Related]
19. Developmental Genetics and Congenital Anomalies of the Kidney and Urinary Tract.
Uy N; Reidy K
J Pediatr Genet; 2016 Mar; 5(1):51-60. PubMed ID: 27617142
[TBL] [Abstract][Full Text] [Related]
20. Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.
Zheng B; Seltzsam S; Wang C; Schierbaum L; Schneider S; Wu CW; Dai R; Connaughton DM; Nakayama M; Mann N; Stajic N; Mane S; Bauer SB; Tasic V; Nam HJ; Shril S; Hildebrandt F
Nephrol Dial Transplant; 2022 Sep; 37(10):1833-1843. PubMed ID: 34473308
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
