229 related articles for article (PubMed ID: 31708116)
21. 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]
22. Congenital anomalies of the kidney and urinary tract: defining risk factors of disease progression and determinants of outcomes.
Walawender L; Becknell B; Matsell DG
Pediatr Nephrol; 2023 Dec; 38(12):3963-3973. PubMed ID: 36867265
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Congenital anomalies of the kidney and urinary tract (CAKUT) associated with Hirschsprung's disease: a systematic review.
Hofmann AD; Duess JW; Puri P
Pediatr Surg Int; 2014 Aug; 30(8):757-61. PubMed ID: 24974188
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. The genetics and pathogenesis of CAKUT.
Kolvenbach CM; Shril S; Hildebrandt F
Nat Rev Nephrol; 2023 Nov; 19(11):709-720. PubMed ID: 37524861
[TBL] [Abstract][Full Text] [Related]
27. Anatomy and embryology of congenital surgical anomalies: Congenital Anomalies of the Kidney and Urinary Tract.
Costigan CS; Rosenblum ND
Semin Pediatr Surg; 2022 Dec; 31(6):151232. PubMed ID: 36423515
[TBL] [Abstract][Full Text] [Related]
28. Congenital anomalies of the kidney and urinary tract genetics in mice and men.
Caruana G; Bertram JF
Nephrology (Carlton); 2015 May; 20(5):309-11. PubMed ID: 25605230
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
De Tomasi L; David P; Humbert C; Silbermann F; Arrondel C; Tores F; Fouquet S; Desgrange A; Niel O; Bole-Feysot C; Nitschké P; Roume J; Cordier MP; Pietrement C; Isidor B; Khau Van Kien P; Gonzales M; Saint-Frison MH; Martinovic J; Novo R; Piard J; Cabrol C; Verma IC; Puri R; Journel H; Aziza J; Gavard L; Said-Menthon MH; Heidet L; Saunier S; Jeanpierre C
Am J Hum Genet; 2017 Nov; 101(5):803-814. PubMed ID: 29100091
[TBL] [Abstract][Full Text] [Related]
31. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
Kitzler TM; Schneider R; Kohl S; Kolvenbach CM; Connaughton DM; Dai R; Mann N; Nakayama M; Majmundar AJ; Wu CW; Kari JA; El Desoky SM; Senguttuvan P; Bogdanovic R; Stajic N; Valivullah Z; Lek M; Mane S; Lifton RP; Tasic V; Shril S; Hildebrandt F
Hum Genet; 2019 Oct; 138(10):1105-1115. PubMed ID: 31230195
[TBL] [Abstract][Full Text] [Related]
32. Mutations in DSTYK and dominant urinary tract malformations.
Sanna-Cherchi S; Sampogna RV; Papeta N; Burgess KE; Nees SN; Perry BJ; Choi M; Bodria M; Liu Y; Weng PL; Lozanovski VJ; Verbitsky M; Lugani F; Sterken R; Paragas N; Caridi G; Carrea A; Dagnino M; Materna-Kiryluk A; Santamaria G; Murtas C; Ristoska-Bojkovska N; Izzi C; Kacak N; Bianco B; Giberti S; Gigante M; Piaggio G; Gesualdo L; Vukic DK; Vukojevic K; Saraga-Babic M; Saraga M; Gucev Z; Allegri L; Latos-Bielenska A; Casu D; State M; Scolari F; Ravazzolo R; Kiryluk K; Al-Awqati Q; D'Agati VD; Drummond IA; Tasic V; Lifton RP; Ghiggeri GM; Gharavi AG
N Engl J Med; 2013 Aug; 369(7):621-9. PubMed ID: 23862974
[TBL] [Abstract][Full Text] [Related]
33. Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans.
Vivante A; Kohl S; Hwang DY; Dworschak GC; Hildebrandt F
Pediatr Nephrol; 2014 Apr; 29(4):695-704. PubMed ID: 24398540
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. 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]
36. Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Münch J; Engesser M; Schönauer R; Hamm JA; Hartig C; Hantmann E; Akay G; Pehlivan D; Mitani T; Coban Akdemir Z; Tüysüz B; Shirakawa T; Dateki S; Claus LR; van Eerde AM; ; Smol T; Devisme L; Franquet H; Attié-Bitach T; Wagner T; Bergmann C; Höhn AK; Shril S; Pollack A; Wenger T; Scott AA; Paolucci S; Buchan J; Gabriel GC; Posey JE; Lupski JR; Petit F; McCarthy AA; Pazour GJ; Lo CW; Popp B; Halbritter J
Kidney Int; 2022 May; 101(5):1039-1053. PubMed ID: 35227688
[TBL] [Abstract][Full Text] [Related]
37. Familial Autonomic Ganglionopathy Caused by Rare
Shibao CA; Joos K; Phillips JA; Cogan J; Newman JH; Hamid R; Meiler J; Capra J; Sheehan J; Vetrini F; Yang Y; Black B; Diedrich A; Roberston D; Biaggioni I
Neurology; 2021 Jul; 97(2):e145-e155. PubMed ID: 33947782
[TBL] [Abstract][Full Text] [Related]
38. Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.
Vivante A; Kleppa MJ; Schulz J; Kohl S; Sharma A; Chen J; Shril S; Hwang DY; Weiss AC; Kaminski MM; Shukrun R; Kemper MJ; Lehnhardt A; Beetz R; Sanna-Cherchi S; Verbitsky M; Gharavi AG; Stuart HM; Feather SA; Goodship JA; Goodship TH; Woolf AS; Westra SJ; Doody DP; Bauer SB; Lee RS; Adam RM; Lu W; Reutter HM; Kehinde EO; Mancini EJ; Lifton RP; Tasic V; Lienkamp SS; Jüppner H; Kispert A; Hildebrandt F
Am J Hum Genet; 2015 Aug; 97(2):291-301. PubMed ID: 26235987
[TBL] [Abstract][Full Text] [Related]
39. [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]
40. A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.
Kolvenbach CM; Zheng B; Merz LM; Mertens ND; Mansour B; Wang C; Seltzsam S; Schneider S; Schierbaum L; Pantel D; Chen J; van der Ven AT; Bello JO; Shril S; Hildebrandt F
Am J Med Genet A; 2023 May; 191(5):1355-1359. PubMed ID: 36694287
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]