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Novel KRIT1 mutation and no molecular evidence of anticipation in a family with cerebral and spinal cavernous malformations.
Eur Neurol. 2009;61(3):154-8. doi: 10.1159/000186506. Epub 2008 Dec 18.
Eur Neurol. 2009.
PMID: 19092252
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.
Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C.
Chung BD, et al.
Hum Mutat. 2009 Apr;30(4):641-8. doi: 10.1002/humu.20916.
Hum Mutat. 2009.
PMID: 19177549
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LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B.
Li Y, et al. Among authors: chung bd.
Am J Hum Genet. 2010 May 14;86(5):696-706. doi: 10.1016/j.ajhg.2010.03.004. Epub 2010 Apr 8.
Am J Hum Genet. 2010.
PMID: 20381006
Free PMC article.
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Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).
Laine CM, Chung BD, Susic M, Prescott T, Semler O, Fiskerstrand T, D'Eufemia P, Castori M, Pekkinen M, Sochett E, Cole WG, Netzer C, Mäkitie O.
Laine CM, et al. Among authors: chung bd.
Eur J Hum Genet. 2011 Aug;19(8):875-81. doi: 10.1038/ejhg.2011.42. Epub 2011 Mar 16.
Eur J Hum Genet. 2011.
PMID: 21407258
Free PMC article.
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CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT).
Brockschmidt A, Chung B, Weber S, Fischer DC, Kolatsi-Joannou M, Christ L, Heimbach A, Shtiza D, Klaus G, Simonetti GD, Konrad M, Winyard P, Haffner D, Schaefer F, Weber RG.
Brockschmidt A, et al.
Nephrol Dial Transplant. 2012 Jun;27(6):2355-64. doi: 10.1093/ndt/gfr649. Epub 2011 Dec 6.
Nephrol Dial Transplant. 2012.
PMID: 22146311
Free article.
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Effect of increased fluid intake on stool output in normal healthy volunteers.
Chung BD, Parekh U, Sellin JH.
Chung BD, et al.
J Clin Gastroenterol. 1999 Jan;28(1):29-32. doi: 10.1097/00004836-199901000-00006.
J Clin Gastroenterol. 1999.
PMID: 9916661
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