BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

274 related articles for article (PubMed ID: 32643034)

  • 1. 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]  

  • 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. 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]  

  • 4. A Biallelic Frameshift Mutation in Nephronectin Causes Bilateral Renal Agenesis in Humans.
    Dai L; Li J; Xie L; Wang W; Lu Y; Xie M; Huang J; Shen K; Yang H; Pei C; Zhao Y; Zhang W
    J Am Soc Nephrol; 2021 Aug; 32(8):1871-1879. PubMed ID: 34049960
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.
    Lemire G; Zheng B; Ediae GU; Zou R; Bhola PT; Chisholm C; de Nanassy J; Lo B; Wang C; Shril S; El Desoky S; Shalaby M; Kari JA; Wang X; ; Kernohan KD; Boycott KM; Hildebrandt F; Sawyer SL
    Am J Med Genet A; 2021 Oct; 185(10):3005-3011. PubMed ID: 34145744
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis.
    Al-Hamed MH; Altuwaijri N; Alsahan N; Ali W; Abdulwahab F; Alzahrani F; Majrashi N; Alkuraya FS
    Clin Genet; 2022 Jul; 102(1):61-65. PubMed ID: 35246978
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Missense Variants in
    Al-Hamed MH; Sayer JA; Alsahan N; Edwards N; Ali W; Tulbah M; Imtiaz F
    Genes (Basel); 2022 Sep; 13(10):. PubMed ID: 36292572
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Fraser syndrome without cryptophthalmos: Two cases.
    Boussion S; Lyonnet S; Van Der Zwaag B; Vogel MJ; Smol T; Mezel A; Manouvrier-Hanu S; Vincent-Delorme C; Vanlerberghe C
    Eur J Med Genet; 2020 Apr; 63(4):103839. PubMed ID: 31923588
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.
    Pitera JE; Woolf AS; Basson MA; Scambler PJ
    J Am Soc Nephrol; 2012 Nov; 23(11):1790-6. PubMed ID: 23064016
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.
    Jordan VK; Beck TF; Hernandez-Garcia A; Kundert PN; Kim BJ; Jhangiani SN; Gambin T; Starkovich M; Punetha J; Paine IS; Posey JE; Li AH; Muzny D; Hsu CW; Lashua AJ; Sun X; Fernandes CJ; Dickinson ME; Lally KP; Gibbs RA; Boerwinkle E; Lupski JR; Scott DA
    Hum Mol Genet; 2018 Jun; 27(12):2064-2075. PubMed ID: 29618029
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis.
    Al-Shamsi B; Al-Kasbi G; Al-Kindi A; Bruwer Z; Al-Kharusi K; Al-Maawali A
    Eur J Med Genet; 2022 Jan; 65(1):104376. PubMed ID: 34737117
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Prevalence of selected congenital anomalies in the Czech Republic: renal and cardiac anomalies and congenital chromosomal aberrations].
    Šípek A; Gregor V; Horáček J; Šípek A; Langhammer P
    Epidemiol Mikrobiol Imunol; 2013 Sep; 62(3):112-28. PubMed ID: 24116699
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Mesenchymal expression of the FRAS1/FREM2 gene unit is decreased in the developing fetal diaphragm of nitrofen-induced congenital diaphragmatic hernia.
    Takahashi T; Friedmacher F; Zimmer J; Puri P
    Pediatr Surg Int; 2016 Feb; 32(2):135-40. PubMed ID: 26519041
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Expression of Fraser syndrome genes in normal and polycystic murine kidneys.
    Kerecuk L; Long DA; Ali Z; Anders C; Kolatsi-Joannou M; Scambler PJ; Woolf AS
    Pediatr Nephrol; 2012 Jun; 27(6):991-8. PubMed ID: 21993971
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.