These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 37468454)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
    Riedhammer KM; Nguyen TT; Koşukcu C; Calzada-Wack J; Li Y; Assia Batzir N; Saygılı S; Wimmers V; Kim GJ; Chrysanthou M; Bakey Z; Sofrin-Drucker E; Kraiger M; Sanz-Moreno A; Amarie OV; Rathkolb B; Klein-Rodewald T; Garrett L; Hölter SM; Seisenberger C; Haug S; Schlosser P; Marschall S; Wurst W; Fuchs H; Gailus-Durner V; Wuttke M; Hrabe de Angelis M; Ćomić J; Akgün Doğan Ö; Özlük Y; Taşdemir M; Ağbaş A; Canpolat N; Orenstein N; Çalışkan S; Weber RG; Bergmann C; Jeanpierre C; Saunier S; Lim TY; Hildebrandt F; Alhaddad B; Basel-Salmon L; Borovitz Y; Wu K; Antony D; Matschkal J; Schaaf CW; Renders L; Schmaderer C; Rogg M; Schell C; Meitinger T; Heemann U; Köttgen A; Arnold SJ; Ozaltin F; Schmidts M; Hoefele J
    Kidney Int; 2024 Apr; 105(4):844-864. PubMed ID: 38154558
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract.
    Zheng B; Wang C; Seltzsam S; Schneider S; Schierbaum L; Wu W; Dai R; Connaughton DM; Nakayama M; Mann N; Bauer SB; Awad HS; Eid LA; Tasic V; Shril S; Hildebrandt F
    Am J Med Genet A; 2022 Jan; 188(1):310-313. PubMed ID: 34525250
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
    Connaughton DM; Dai R; Owen DJ; Marquez J; Mann N; Graham-Paquin AL; Nakayama M; Coyaud E; Laurent EMN; St-Germain JR; Blok LS; Vino A; Klämbt V; Deutsch K; Wu CW; Kolvenbach CM; Kause F; Ottlewski I; Schneider R; Kitzler TM; Majmundar AJ; Buerger F; Onuchic-Whitford AC; Youying M; Kolb A; Salmanullah D; Chen E; van der Ven AT; Rao J; Ityel H; Seltzsam S; Rieke JM; Chen J; Vivante A; Hwang DY; Kohl S; Dworschak GC; Hermle T; Alders M; Bartolomaeus T; Bauer SB; Baum MA; Brilstra EH; Challman TD; Zyskind J; Costin CE; Dipple KM; Duijkers FA; Ferguson M; Fitzpatrick DR; Fick R; Glass IA; Hulick PJ; Kline AD; Krey I; Kumar S; Lu W; Marco EJ; Wentzensen IM; Mefford HC; Platzer K; Povolotskaya IS; Savatt JM; Shcherbakova NV; Senguttuvan P; Squire AE; Stein DR; Thiffault I; Voinova VY; Somers MJG; Ferguson MA; Traum AZ; Daouk GH; Daga A; Rodig NM; Terhal PA; van Binsbergen E; Eid LA; Tasic V; Rasouly HM; Lim TY; Ahram DF; Gharavi AG; Reutter HM; Rehm HL; MacArthur DG; Lek M; Laricchia KM; Lifton RP; Xu H; Mane SM; Sanna-Cherchi S; Sharrocks AD; Raught B; Fisher SE; Bouchard M; Khokha MK; Shril S; Hildebrandt F
    Am J Hum Genet; 2020 Oct; 107(4):727-742. PubMed ID: 32891193
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES).
    Koenigbauer JT; Fangmann L; Reinhardt C; Weichert A; Henrich W; Saskia B; Gabriel HP
    Arch Gynecol Obstet; 2024 Jun; 309(6):2613-2622. PubMed ID: 37535131
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Maternal risk factors for congenital anomalies of the kidney and urinary tract: A case-control study.
    Boato RT; Aguiar MB; Mak RH; Colosimo EA; Simões E Silva AC; Oliveira EA
    J Pediatr Urol; 2023 Apr; 19(2):199.e1-199.e11. PubMed ID: 36535837
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Recessive CHRM5 variant as a potential cause of neurogenic bladder.
    Schneider S; Schierbaum L; Burger WAC; Seltzsam S; Wang C; Zheng B; Wu CW; Nakayama M; Connaughton DM; Mann N; Shalaby MA; Kari JA; ElDesoky S; Tasic V; Eid LA; Shril S; Thal DM; Hildebrandt F
    Am J Med Genet A; 2023 Aug; 191(8):2083-2091. PubMed ID: 37213061
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.