Acott P - Search Results

1

Novel splice-site mutation in ATP8B1 results in atypical progressive familial intrahepatic cholestasis type 1.

Copeland E, Renault N, Renault M, Dyack S, Bulman DE, Bedard K, Otley A, Magee F, Acott P, Greer WL. Copeland E, et al. Among authors: acott p. J Gastroenterol Hepatol. 2013 Mar;28(3):560-4. doi: 10.1111/j.1440-1746.2012.07290.x. J Gastroenterol Hepatol. 2013. PMID: 23033845

2

Fabry disease and nephrogenic diabetes insipidus.

Wornell P, Dyack S, Crocker J, Yu W, Acott P. Wornell P, et al. Among authors: acott p. Pediatr Nephrol. 2006 Aug;21(8):1185-8. doi: 10.1007/s00467-006-0110-x. Epub 2006 May 24. Pediatr Nephrol. 2006. PMID: 16721592

3

A novel rearrangement of occludin causes brain calcification and renal dysfunction.

LeBlanc MA, Penney LS, Gaston D, Shi Y, Aberg E, Nightingale M, Jiang H, Gillett RM, Fahiminiya S, Macgillivray C, Wood EP, Acott PD, Khan MN, Samuels ME, Majewski J, Orr A, McMaster CR, Bedard K. LeBlanc MA, et al. Among authors: acott pd. Hum Genet. 2013 Nov;132(11):1223-34. doi: 10.1007/s00439-013-1327-y. Epub 2013 Jun 21. Hum Genet. 2013. PMID: 23793442

4

Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature.

Alghaith FA, Arts HH, Plourde FJ, Boswall A, Gulati P, McNeely PD, Acott PD, Wong KK, Dyack S. Alghaith FA, et al. Among authors: acott pd. Am J Med Genet A. 2023 Feb;191(2):554-558. doi: 10.1002/ajmg.a.63023. Epub 2022 Oct 29. Am J Med Genet A. 2023. PMID: 36308391 Review.

5

Effects of insulin-like growth factor-type 1 on weight gain and hepatic glycogen during early development in a surfactant/virus mouse model of acute liver failure: correlation with mortality.

Acott PD, Crocker JF, Lee SH, Evans J, O'Regan P, Al-Khalidi M, Geldenhuys L, Murphy MG. Acott PD, et al. Hepatol Res. 2004 May;29(1):42-50. doi: 10.1016/j.hepres.2004.01.003. Hepatol Res. 2004. PMID: 15135346

6

Phenotypic heterogeneity in pediatric autosomal dominant polycystic kidney disease at first presentation: a single-center, 20-year review.

Tee JB, Acott PD, McLellan DH, Crocker JF. Tee JB, et al. Am J Kidney Dis. 2004 Feb;43(2):296-303. doi: 10.1053/j.ajkd.2003.10.017. Am J Kidney Dis. 2004. PMID: 14750095

7

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

Hartmannová H, Piherová L, Tauchmannová K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodaňová K, Stránecký V, Přistoupilová A, Barešová V, Jedličková I, Živná M, Sovová J, Hůlková H, Robins V, Vrbacký M, Pecina P, Kaplanová V, Houštěk J, Mráček T, Thibeault Y, Bleyer AJ, Kmoch S. Hartmannová H, et al. Among authors: acott pd. Hum Mol Genet. 2016 Sep 15;25(18):4062-4079. doi: 10.1093/hmg/ddw245. Epub 2016 Jul 27. Hum Mol Genet. 2016. PMID: 27466185

8

Pkd1-targeted mutation reveals a role for the Wolffian duct in autosomal dominant polycystic kidney disease.

Tee JB, Dnyanmote AV, Lorenzo MK, Lee OR, Grisaru S, Suk M, Acott PD. Tee JB, et al. Among authors: acott pd. J Dev Orig Health Dis. 2020 Feb;11(1):78-85. doi: 10.1017/S2040174419000436. Epub 2019 Aug 15. J Dev Orig Health Dis. 2020. PMID: 31412963

9

T-cell/periodic acid-Schiff stain: a useful tool in the evaluation of tubulointerstitial infiltrates as a component of renal allograft rejection.

Resch L, Yu W, Fraser RB, Lawen JG, Acott PD, Crocker JF, Wright JR Jr. Resch L, et al. Ann Diagn Pathol. 2002 Apr;6(2):122-4. doi: 10.1053/adpa.2002.32378. Ann Diagn Pathol. 2002. PMID: 12004361

10

Neuropsychological outcome in children with acquired or congenital renal disease.

Crocker JF, Acott PD, Carter JE, Lirenman DS, MacDonald GW, McAllister M, McDonnell MC, Shea S, Bawden HN. Crocker JF, et al. Pediatr Nephrol. 2002 Nov;17(11):908-12. doi: 10.1007/s00467-002-0912-4. Epub 2002 Sep 25. Pediatr Nephrol. 2002. PMID: 12432432 Clinical Trial.

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