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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1978 1
1984 1
1985 2
1987 1
1989 2
1993 6
1996 1
1998 1
1999 1
2001 2
2005 1
2006 1
2007 2
2008 1
2009 2
2010 3
2011 3
2012 1
2013 2
2014 7
2015 7
2016 7
2017 16
2018 14
2019 20
2020 21
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Similar Articles for PMID: 33020172

100 results
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Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.
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. Arora V, et al. J Am Soc Nephrol. 2020 Oct 5:ASN.2020040478. doi: 10.1681/ASN.2020040478. Online ahead of print. J Am Soc Nephrol. 2020. PMID: 33020172
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. Al-Hamed MH, et al. J Nephrol. 2020 Jul 8. doi: 10.1007/s40620-020-00795-0. Online ahead of print. J Nephrol. 2020. PMID: 32643034
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. De Tomasi L, et al. Am J Hum Genet. 2017 Nov 2;101(5):803-814. doi: 10.1016/j.ajhg.2017.09.026. Am J Hum Genet. 2017. PMID: 29100091 Free PMC article.
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. Kohl S, et al. J Am Soc Nephrol. 2014 Sep;25(9):1917-22. doi: 10.1681/ASN.2013101103. Epub 2014 Apr 3. J Am Soc Nephrol. 2014. PMID: 24700879 Free PMC article.
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. Brophy PD, et al. Genetics. 2017 Sep;207(1):215-228. doi: 10.1534/genetics.117.1125. Epub 2017 Jul 24. Genetics. 2017. PMID: 28739660 Free PMC article.
Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report.
Herlin MK, Le VQ, Højland AT, Ernst A, Okkels H, Petersen AC, Petersen MB, Pedersen IS. Herlin MK, et al. Hum Reprod. 2019 Sep 29;34(9):1838-1846. doi: 10.1093/humrep/dez126. Hum Reprod. 2019. PMID: 31424080
FREM1 Autosomal Recessive Disorders.
Li C, Slavotinek A. Li C, et al. 2008 Jul 9 [updated 2019 May 9]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 20301721 Free Books & Documents. Review.
Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole-exome sequencing.
Zhou X, Wang Y, Shao B, Wang C, Hu P, Qiao F, Xu Z. Zhou X, et al. J Clin Lab Anal. 2020 Aug 11;34(11):e23480. doi: 10.1002/jcla.23480. Online ahead of print. J Clin Lab Anal. 2020. PMID: 32779812 Free PMC article.
Clinical Exome Sequencing Identifies a Novel Mutation of the GREB1L Gene in a Chinese Family with Renal Agenesis.
Wang A, Ji B, Wu F, Zhao X. Wang A, et al. Genet Test Mol Biomarkers. 2020 Aug;24(8):520-526. doi: 10.1089/gtmb.2020.0036. Epub 2020 Jun 25. Genet Test Mol Biomarkers. 2020. PMID: 32598191
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
Humbert C, Silbermann F, Morar B, Parisot M, Zarhrate M, Masson C, Tores F, Blanchet P, Perez MJ, Petrov Y, Khau Van Kien P, Roume J, Leroy B, Gribouval O, Kalaydjieva L, Heidet L, Salomon R, Antignac C, Benmerah A, Saunier S, Jeanpierre C. Humbert C, et al. Am J Hum Genet. 2014 Feb 6;94(2):288-94. doi: 10.1016/j.ajhg.2013.12.017. Epub 2014 Jan 16. Am J Hum Genet. 2014. PMID: 24439109 Free PMC article.
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