Sturm AC - Search Results

1

Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF.

Ament AE, Li Z, Sturm AC, Perko JD, Lawson S, Masterson M, Quadros EV, Tanner SM. Ament AE, et al. Among authors: sturm ac. Br J Haematol. 2009 Feb;144(4):622-4. doi: 10.1111/j.1365-2141.2008.07496.x. Epub 2008 Nov 19. Br J Haematol. 2009. PMID: 19036097 Free PMC article. No abstract available.

2

Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities.

Beech CM, Liyanarachchi S, Shah NP, Sturm AC, Sadiq MF, de la Chapelle A, Tanner SM. Beech CM, et al. Among authors: sturm ac. Orphanet J Rare Dis. 2011 Nov 13;6:74. doi: 10.1186/1750-1172-6-74. Orphanet J Rare Dis. 2011. PMID: 22078000 Free PMC article.

3

Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.

Tanner SM, Sturm AC, Baack EC, Liyanarachchi S, de la Chapelle A. Tanner SM, et al. Among authors: sturm ac. Orphanet J Rare Dis. 2012 Aug 28;7:56. doi: 10.1186/1750-1172-7-56. Orphanet J Rare Dis. 2012. PMID: 22929189 Free PMC article.

4

Investigation of the ABC transporter MRP1 in selected patients with presumed defects in vitamin B12 absorption.

Shah NP, Beech CM, Sturm AC, Tanner SM. Shah NP, et al. Among authors: sturm ac. Blood. 2011 Apr 21;117(16):4397-8. doi: 10.1182/blood-2010-12-322750. Blood. 2011. PMID: 21511966 Free article. No abstract available.

5

Hereditary intrinsic factor deficiency in chaldeans.

Sturm AC, Baack EC, Armstrong MB, Schiff D, Zia A, Savasan S, de la Chapelle A, Tanner SM. Sturm AC, et al. JIMD Rep. 2013;7:13-8. doi: 10.1007/8904_2012_133. Epub 2012 Mar 18. JIMD Rep. 2013. PMID: 23430489 Free PMC article.

6

Familial peripheral keratopathy without PAX6 mutation.

Smith WM, Lange JM, Sturm AC, Tanner SM, Mauger TF. Smith WM, et al. Among authors: sturm ac. Cornea. 2012 Feb;31(2):130-3. doi: 10.1097/ICO.0b013e3182222779. Cornea. 2012. PMID: 22146551

7

Imerslund-Gräsbeck syndrome: new mutation in amnionless.

Densupsoontorn N, Sanpakit K, Vijarnsorn C, Pattaragarn A, Kangwanpornsiri C, Jatutipsompol C, Tirapongporn H, Jirapinyo P, Shah NP, Sturm AC, Tanner SM. Densupsoontorn N, et al. Among authors: sturm ac. Pediatr Int. 2012 Jun;54(3):e19-21. doi: 10.1111/j.1442-200X.2011.03482.x. Pediatr Int. 2012. PMID: 22631584 No abstract available.

8

Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred.

Efebera YA, Sturm A, Baack EC, Hofmeister CC, Satoskar A, Nadasdy T, Nadasdy G, Benson DM, Gillmore JD, Hawkins PN, Rowczenio D. Efebera YA, et al. Amyloid. 2014 Jun;21(2):110-2. doi: 10.3109/13506129.2014.891502. Epub 2014 Mar 6. Amyloid. 2014. PMID: 24601799 Free PMC article.

9

Impact of variant reclassification in the clinical setting of cardiovascular genetics.

VanDyke RE, Hashimoto S, Morales A, Pyatt RE, Sturm AC. VanDyke RE, et al. Among authors: sturm ac. J Genet Couns. 2021 Apr;30(2):503-512. doi: 10.1002/jgc4.1336. Epub 2020 Oct 7. J Genet Couns. 2021. PMID: 33029862

10

Direct-to-consumer personal genomic testing: a case study and practical recommendations for “genomic counseling”.

Sturm AC, Manickam K. Sturm AC, et al. J Genet Couns. 2012 Jun;21(3):402-412. doi: 10.1007/s10897-012-9489-7. J Genet Couns. 2012. PMID: 22302621

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