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Results: 1 to 20 of 32

1.

Endocrine abnormalities in Townes-Brocks syndrome.

Lawrence C, Hong-McAtee I, Hall B, Hartsfield J, Rutherford A, Bonilla T, Bay C.

Am J Med Genet A. 2013 Sep;161(9):2266-73. doi: 10.1002/ajmg.a.36104. Epub 2013 Jul 25.

PMID:
23894113
[PubMed - indexed for MEDLINE]
2.

Chromatin-modifying agents reactivate embryonic renal stem/progenitor genes in human adult kidney epithelial cells but abrogate dedifferentiation and stemness.

Omer D, Harari-Steinberg O, Buzhor E, Metsuyanim S, Pleniceanu O, Zundelevich A, Gal-Yam EN, Dekel B.

Cell Reprogram. 2013 Aug;15(4):281-92. doi: 10.1089/cell.2012.0087. Epub 2013 Jul 10.

PMID:
23841748
[PubMed - indexed for MEDLINE]
3.

ZRANB2 localizes to supraspliceosomes and influences the alternative splicing of multiple genes in the transcriptome.

Yang YH, Markus MA, Mangs AH, Raitskin O, Sperling R, Morris BJ.

Mol Biol Rep. 2013 Sep;40(9):5381-95. doi: 10.1007/s11033-013-2637-9. Epub 2013 May 11.

PMID:
23666063
[PubMed - indexed for MEDLINE]
4.

Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling.

Vivante A, Mark-Danieli M, Davidovits M, Harari-Steinberg O, Omer D, Gnatek Y, Cleper R, Landau D, Kovalski Y, Weissman I, Eisenstein I, Soudack M, Wolf HR, Issler N, Lotan D, Anikster Y, Dekel B.

J Am Soc Nephrol. 2013 Mar;24(4):550-8. doi: 10.1681/ASN.2012010097. Epub 2013 Mar 21.

PMID:
23520208
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.

Vodopiutz J, Zoller H, Fenwick AL, Arnhold R, Schmid M, Prayer D, Müller T, Repa A, Pollak A, Aufricht C, Wilkie AO, Janecke AR.

J Pediatr. 2013 Mar;162(3):612-7. doi: 10.1016/j.jpeds.2012.08.042. Epub 2012 Oct 12.

PMID:
23069192
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency.

Al-Qattan MM, Al Abdulkareem I, Al Haidan Y, Al Balwi M.

Am J Med Genet A. 2012 Oct;158A(10):2610-5. doi: 10.1002/ajmg.a.35584. Epub 2012 Aug 17.

PMID:
22903933
[PubMed - indexed for MEDLINE]
7.

The H3K27 demethylase Utx regulates somatic and germ cell epigenetic reprogramming.

Mansour AA, Gafni O, Weinberger L, Zviran A, Ayyash M, Rais Y, Krupalnik V, Zerbib M, Amann-Zalcenstein D, Maza I, Geula S, Viukov S, Holtzman L, Pribluda A, Canaani E, Horn-Saban S, Amit I, Novershtern N, Hanna JH.

Nature. 2012 Aug 16;488(7411):409-13. doi: 10.1038/nature11272.

PMID:
22801502
[PubMed - indexed for MEDLINE]
8.

Phosphorylation of Kif26b promotes its polyubiquitination and subsequent proteasomal degradation during kidney development.

Terabayashi T, Sakaguchi M, Shinmyozu K, Ohshima T, Johjima A, Ogura T, Miki H, Nishinakamura R.

PLoS One. 2012;7(6):e39714. doi: 10.1371/journal.pone.0039714. Epub 2012 Jun 29.

PMID:
22768111
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Characterization of 17.94, a novel anaplastic Wilms' tumor cell line.

Brown KW, Charles A, Dallosso A, White G, Charlet J, Standen GR, Malik K.

Cancer Genet. 2012 Jun;205(6):319-26. doi: 10.1016/j.cancergen.2012.04.009.

PMID:
22749038
[PubMed - indexed for MEDLINE]
10.

Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature.

Miller EM, Hopkin R, Bao L, Ware SM.

Am J Med Genet A. 2012 Mar;158A(3):533-40. doi: 10.1002/ajmg.a.34426. Epub 2012 Feb 3. Review.

PMID:
22308078
[PubMed - indexed for MEDLINE]
11.

A genetic epidemiologic study of candidate genes involved in the optic nerve head morphology.

Gasten AC, Ramdas WD, Broer L, van Koolwijk LM, Ikram MK, de Jong PT, Aulchenko YS, Wolfs RC, Hofman A, Rivadeneira F, Uitterlinden AG, Oostra BA, Lemij HG, Klaver CC, Jansonius NM, Vingerling JR, van Duijn CM.

Invest Ophthalmol Vis Sci. 2012 Mar 21;53(3):1485-91. doi: 10.1167/iovs.11-7384.

PMID:
22266513
[PubMed - indexed for MEDLINE]
Free Article
12.

Common genetic variants associated with open-angle glaucoma.

Ramdas WD, van Koolwijk LM, Lemij HG, Pasutto F, Cree AJ, Thorleifsson G, Janssen SF, Jacoline TB, Amin N, Rivadeneira F, Wolfs RC, Walters GB, Jonasson F, Weisschuh N, Mardin CY, Gibson J, Zegers RH, Hofman A, de Jong PT, Uitterlinden AG, Oostra BA, Thorsteinsdottir U, Gramer E, Welgen-Lüssen UC, Kirwan JF, Bergen AA, Reis A, Stefansson K, Lotery AJ, Vingerling JR, Jansonius NM, Klaver CC, van Duijn CM.

Hum Mol Genet. 2011 Jun 15;20(12):2464-71. doi: 10.1093/hmg/ddr120. Epub 2011 Mar 22.

PMID:
21427129
[PubMed - indexed for MEDLINE]
Free Article
13.

Nephron progenitors in the metanephric mesenchyme.

Nishinakamura R, Uchiyama Y, Sakaguchi M, Fujimura S.

Pediatr Nephrol. 2011 Sep;26(9):1463-7. doi: 10.1007/s00467-011-1806-0. Epub 2011 Feb 19. Review.

PMID:
21336811
[PubMed - indexed for MEDLINE]
14.

Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.

Dehghan A, Dupuis J, Barbalic M, Bis JC, Eiriksdottir G, Lu C, Pellikka N, Wallaschofski H, Kettunen J, Henneman P, Baumert J, Strachan DP, Fuchsberger C, Vitart V, Wilson JF, Paré G, Naitza S, Rudock ME, Surakka I, de Geus EJ, Alizadeh BZ, Guralnik J, Shuldiner A, Tanaka T, Zee RY, Schnabel RB, Nambi V, Kavousi M, Ripatti S, Nauck M, Smith NL, Smith AV, Sundvall J, Scheet P, Liu Y, Ruokonen A, Rose LM, Larson MG, Hoogeveen RC, Freimer NB, Teumer A, Tracy RP, Launer LJ, Buring JE, Yamamoto JF, Folsom AR, Sijbrands EJ, Pankow J, Elliott P, Keaney JF, Sun W, Sarin AP, Fontes JD, Badola S, Astor BC, Hofman A, Pouta A, Werdan K, Greiser KH, Kuss O, Meyer zu Schwabedissen HE, Thiery J, Jamshidi Y, Nolte IM, Soranzo N, Spector TD, Völzke H, Parker AN, Aspelund T, Bates D, Young L, Tsui K, Siscovick DS, Guo X, Rotter JI, Uda M, Schlessinger D, Rudan I, Hicks AA, Penninx BW, Thorand B, Gieger C, Coresh J, Willemsen G, Harris TB, Uitterlinden AG, Järvelin MR, Rice K, Radke D, Salomaa V, Willems van Dijk K, Boerwinkle E, Vasan RS, Ferrucci L, Gibson QD, Bandinelli S, Snieder H, Boomsma DI, Xiao X, Campbell H, Hayward C, Pramstaller PP, van Duijn CM, Peltonen L, Psaty BM, Gudnason V, Ridker PM, Homuth G, Koenig W, Ballantyne CM, Witteman JC, Benjamin EJ, Perola M, Chasman DI.

Circulation. 2011 Feb 22;123(7):731-8. doi: 10.1161/CIRCULATIONAHA.110.948570. Epub 2011 Feb 7.

PMID:
21300955
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Expanded spectrum of oculo-auriculo-vertebral spectrum with imperforate anus in a male patient who is negative for SALL1 mutations.

Slavotinek AM, Vargervik K.

Clin Dysmorphol. 2011 Jan;20(1):11-4. No abstract available.

PMID:
21188766
[PubMed - indexed for MEDLINE]
16.

Genome-wide scanning reveals complex etiology of oculo-auriculo-vertebral spectrum.

Huang XS, Li X, Tan C, Xiao L, Jiang HO, Zhang SF, Wang DM, Zhang JX.

Tohoku J Exp Med. 2010 Dec;222(4):311-8.

PMID:
21150135
[PubMed - indexed for MEDLINE]
Free Article
17.

Sall1 regulates embryonic stem cell differentiation in association with nanog.

Karantzali E, Lekakis V, Ioannou M, Hadjimichael C, Papamatheakis J, Kretsovali A.

J Biol Chem. 2011 Jan 14;286(2):1037-45. doi: 10.1074/jbc.M110.170050. Epub 2010 Nov 9.

PMID:
21062744
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

FISH mapping of six genes responsible for development of the nervous and skeletal systems on donkey (Equus asinus) chromosomes.

Bugno-Poniewierska M, Pawlina K, Dardzińska A, Zabek T, Słota E, Klukowka-Rötzler J.

Hereditas. 2010 Jun 1;147(3):132-5. doi: 10.1111/j.1601-5223.2010.02178.x.

PMID:
20626768
[PubMed - indexed for MEDLINE]
19.

Sumoylation modulates the activity of Spalt-like proteins during wing development in Drosophila.

Sánchez J, Talamillo A, Lopitz-Otsoa F, Pérez C, Hjerpe R, Sutherland JD, Herboso L, Rodríguez MS, Barrio R.

J Biol Chem. 2010 Aug 13;285(33):25841-9. doi: 10.1074/jbc.M110.124024. Epub 2010 Jun 18.

PMID:
20562097
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Phenotypic variability in a family with Townes-Brocks syndrome.

Sudo Y, Numakura C, Abe A, Aiba S, Matsunaga A, Hayasaka K.

J Hum Genet. 2010 Aug;55(8):550-1. doi: 10.1038/jhg.2010.64. Epub 2010 Jun 3.

PMID:
20520617
[PubMed - indexed for MEDLINE]

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