198 related articles for article (PubMed ID: 21900877)
1. Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.
Saisawat P; Tasic V; Vega-Warner V; Kehinde EO; Günther B; Airik R; Innis JW; Hoskins BE; Hoefele J; Otto EA; Hildebrandt F
Kidney Int; 2012 Jan; 81(2):196-200. PubMed ID: 21900877
[TBL] [Abstract][Full Text] [Related]
2. Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.
Kohl S; Hwang DY; Dworschak GC; Hilger AC; Saisawat P; Vivante A; Stajic N; Bogdanovic R; Reutter HM; Kehinde EO; Tasic V; Hildebrandt F
J Am Soc Nephrol; 2014 Sep; 25(9):1917-22. PubMed ID: 24700879
[TBL] [Abstract][Full Text] [Related]
3. Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.
Al-Hamed MH; Sayer JA; Alsahan N; Tulbah M; Kurdi W; Ambusaidi Q; Ali W; Imtiaz F
J Nephrol; 2021 Jun; 34(3):893-900. PubMed ID: 32643034
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.
van der Ven AT; Kobbe B; Kohl S; Shril S; Pogoda HM; Imhof T; Ityel H; Vivante A; Chen J; Hwang DY; Connaughton DM; Mann N; Widmeier E; Taglienti M; Schmidt JM; Nakayama M; Senguttuvan P; Kumar S; Tasic V; Kehinde EO; Mane SM; Lifton RP; Soliman N; Lu W; Bauer SB; Hammerschmidt M; Wagener R; Hildebrandt F
PLoS One; 2018; 13(1):e0191224. PubMed ID: 29351342
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1.
Hoefele J; Wilhelm C; Schiesser M; Mack R; Heinrich U; Weber LT; Biskup S; Daumer-Haas C; Klein HG; Rost I
Gene; 2013 May; 520(2):194-7. PubMed ID: 23473829
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.
Brophy PD; Rasmussen M; Parida M; Bonde G; Darbro BW; Hong X; Clarke JC; Peterson KA; Denegre J; Schneider M; Sussman CR; Sunde L; Lildballe DL; Hertz JM; Cornell RA; Murray SA; Manak JR
Genetics; 2017 Sep; 207(1):215-228. PubMed ID: 28739660
[TBL] [Abstract][Full Text] [Related]
11. Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele.
Pitera JE; Turmaine M; Woolf AS; Scambler PJ
Genesis; 2012 Dec; 50(12):892-8. PubMed ID: 22730198
[TBL] [Abstract][Full Text] [Related]
12. Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.
Beck TF; Shchelochkov OA; Yu Z; Kim BJ; Hernández-García A; Zaveri HP; Bishop C; Overbeek PA; Stockton DW; Justice MJ; Scott DA
PLoS One; 2013; 8(3):e58830. PubMed ID: 23536828
[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. Biallelic Pathogenic
Arora V; Khan S; El-Hattab AW; Dua Puri R; Rocha ME; Merdzanic R; Paknia O; Beetz C; Rolfs A; Bertoli-Avella AM; Bauer P; Verma IC
J Am Soc Nephrol; 2021 Jan; 32(1):223-228. PubMed ID: 33020172
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
van der Ven AT; Vivante A; Hildebrandt F
J Am Soc Nephrol; 2018 Jan; 29(1):36-50. PubMed ID: 29079659
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.
Yu Q; Lin B; Xie S; Gao S; Li W; Liu Y; Wang H; Huang D; Xie Z
Hum Mol Genet; 2018 Jul; 27(13):2357-2366. PubMed ID: 29688405
[TBL] [Abstract][Full Text] [Related]
19. Renal agenesis-related genes are associated with Herlyn-Werner-Wunderlich syndrome.
Li L; Chu C; Li S; Lu D; Zheng P; Sheng J; Luo LJ; Wu X; Zhang YD; Yin C; Duan AH
Fertil Steril; 2021 Nov; 116(5):1360-1369. PubMed ID: 34311961
[TBL] [Abstract][Full Text] [Related]
20. The Frequency of Familial Congenital Anomalies of the Kidney and Urinary Tract: Should We Screen Asymptomatic First-Degree Relatives Using Urinary Tract Ultrasonography?
Suman Gök E; Ayvacı A; Ağbaş A; Adaletli İ; Canpolat N; Sever L; Çalışkan S
Nephron; 2020; 144(4):170-175. PubMed ID: 31910412
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]