Similar articles for PMID: 25602001

Year	Number of Results
1967	1
1978	1
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1990	1
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1998	2
1999	4
2000	4
2001	3
2002	3
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2005	3
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2012	14
2013	1
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2015	5
2016	6
2017	4
2018	4
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2021	2

1

Old meets new: identifying founder mutations in genetic disease.

Evans JA. Evans JA. CMAJ. 2015 Feb 3;187(2):93-94. doi: 10.1503/cmaj.141509. Epub 2015 Jan 19. CMAJ. 2015. PMID: 25602001 Free PMC article. No abstract available.

2

Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.

Marcadier JL, Boland M, Scott CR, Issa K, Wu Z, McIntyre AD, Hegele RA, Geraghty MT, Lines MA. Marcadier JL, et al. CMAJ. 2015 Feb 3;187(2):102-107. doi: 10.1503/cmaj.140657. Epub 2014 Dec 1. CMAJ. 2015. PMID: 25452324 Free PMC article.

3

A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.

Rousseau-Nepton I, Okubo M, Grabs R; FORGE Canada Consortium, Mitchell J, Polychronakos C, Rodd C. Rousseau-Nepton I, et al. CMAJ. 2015 Feb 3;187(2):E68-E73. doi: 10.1503/cmaj.140840. Epub 2015 Jan 19. CMAJ. 2015. PMID: 25602008 Free PMC article.

4

Congenital sucrase-isomaltase deficiency.

Treem WR. Treem WR. J Pediatr Gastroenterol Nutr. 1995 Jul;21(1):1-14. doi: 10.1097/00005176-199507000-00001. J Pediatr Gastroenterol Nutr. 1995. PMID: 8576798 Review. No abstract available.

5

Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID.

Uhrich S, Wu Z, Huang JY, Scott CR. Uhrich S, et al. J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S34-5. doi: 10.1097/01.mpg.0000421408.65257.b5. J Pediatr Gastroenterol Nutr. 2012. PMID: 23103650 No abstract available.

6

Congenital sucrase-isomaltase deficiency: summary of an evaluation in one family.

Chumpitazi BP, Robayo-Torres CC, Opekun AR, Nichols BL Jr, Naim HY. Chumpitazi BP, et al. J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2(0 2):S36. doi: 10.1097/01.mpg.0000421409.65257.fc. J Pediatr Gastroenterol Nutr. 2012. PMID: 23103651 Free PMC article. No abstract available.

7

Congenital sucrase-isomaltase deficiency: heterogeneity of inheritance, trafficking, and function of an intestinal enzyme complex.

Naim HY, Heine M, Zimmer KP. Naim HY, et al. J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S13-20. doi: 10.1097/01.mpg.0000421402.57633.4b. J Pediatr Gastroenterol Nutr. 2012. PMID: 23103643 No abstract available.

8

Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients.

Gericke B, Amiri M, Scott CR, Naim HY. Gericke B, et al. Biochim Biophys Acta Mol Basis Dis. 2017 Mar;1863(3):817-826. doi: 10.1016/j.bbadis.2016.12.017. Epub 2017 Jan 3. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28062276 Free article.

9

Onset of sucrase-isomaltase deficiency in late adulthood.

Muldoon C, Maguire P, Gleeson F. Muldoon C, et al. Am J Gastroenterol. 1999 Aug;94(8):2298-9. doi: 10.1111/j.1572-0241.1999.01320.x. Am J Gastroenterol. 1999. PMID: 10445568

10

A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.

Basit S, Malibari O, Al Balwi AM, Abdusamad F, Abu Ismail F. Basit S, et al. Ann Saudi Med. 2014 Sep-Oct;34(5):390-5. doi: 10.5144/0256-4947.2014.390. Ann Saudi Med. 2014. PMID: 25827695 Free PMC article.

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