BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

336 related articles for article (PubMed ID: 26908769)

  • 21. 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]  

  • 22. 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]  

  • 23. 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]  

  • 24. 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]  

  • 25. Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT).
    Virth J; Mack HG; Colville D; Crockett E; Savige J
    Pediatr Nephrol; 2024 Feb; 39(2):357-369. PubMed ID: 37468646
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations.
    Chatterjee R; Ramos E; Hoffman M; VanWinkle J; Martin DR; Davis TK; Hoshi M; Hmiel SP; Beck A; Hruska K; Coplen D; Liapis H; Mitra R; Druley T; Austin P; Jain S
    Hum Genet; 2012 Nov; 131(11):1725-38. PubMed ID: 22729463
    [TBL] [Abstract][Full Text] [Related]  

  • 27. GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract.
    Du X; Wang C; Liu J; Yu M; Ju H; Xue S; Li Y; Liu J; Dai R; Chen J; Zhai Y; Rao J; Wang X; Sun Y; Sun L; Wu X; Xu H; Shen Q
    Hum Genomics; 2024 Apr; 18(1):41. PubMed ID: 38654324
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. 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]  

  • 30. 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]  

  • 31. 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]  

  • 32. CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.
    Mann N; Kause F; Henze EK; Gharpure A; Shril S; Connaughton DM; Nakayama M; Klämbt V; Majmundar AJ; Wu CW; Kolvenbach CM; Dai R; Chen J; van der Ven AT; Ityel H; Tooley MJ; Kari JA; Bownass L; El Desoky S; De Franco E; Shalaby M; Tasic V; Bauer SB; Lee RS; Beckel JM; Yu W; Mane SM; Lifton RP; Reutter H; Ellard S; Hibbs RE; Kawate T; Hildebrandt F
    Am J Hum Genet; 2019 Dec; 105(6):1286-1293. PubMed ID: 31708116
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. 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]  

  • 35. Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
    Klämbt V; Buerger F; Wang C; Naert T; Richter K; Nauth T; Weiss AC; Sieckmann T; Lai E; Connaughton DM; Seltzsam S; Mann N; Majmundar AJ; Wu CW; Onuchic-Whitford AC; Shril S; Schneider S; Schierbaum L; Dai R; Bekheirnia MR; Joosten M; Shlomovitz O; Vivante A; Banne E; Mane S; Lifton RP; Kirschner KM; Kispert A; Rosenberger G; Fischer KD; Lienkamp SS; Zegers MMP; Hildebrandt F
    J Am Soc Nephrol; 2023 Feb; 34(2):273-290. PubMed ID: 36414417
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C.
    Connaughton DM; Hildebrandt F
    Am J Med Genet C Semin Med Genet; 2022 Sep; 190(3):325-343. PubMed ID: 36208064
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Novel genetic aspects of congenital anomalies of kidney and urinary tract.
    Weber S
    Curr Opin Pediatr; 2012 Apr; 24(2):212-8. PubMed ID: 22245908
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT).
    Neirijnck Y; Reginensi A; Renkema KY; Massa F; Kozlov VM; Dhib H; Bongers EMHF; Feitz WF; van Eerde AM; Lefebvre V; Knoers NVAM; Tabatabaei M; Schulz H; McNeill H; Schaefer F; Wegner M; Sock E; Schedl A
    Kidney Int; 2018 May; 93(5):1142-1153. PubMed ID: 29459093
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 17.