Niemi AK - Search Results

1

Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

Myers A, Bernstein JA, Brennan ML, Curry C, Esplin ED, Fisher J, Homeyer M, Manning MA, Muller EA, Niemi AK, Seaver LH, Hintz SR, Hudgins L. Myers A, et al. Among authors: niemi ak. Am J Med Genet A. 2014 Nov;164A(11):2814-21. doi: 10.1002/ajmg.a.36737. Epub 2014 Sep 22. Am J Med Genet A. 2014. PMID: 25250515 Review.

2

Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex.

Niemi AK, Northrup H, Hudgins L, Bernstein JA. Niemi AK, et al. Am J Med Genet A. 2011 Oct;155A(10):2534-7. doi: 10.1002/ajmg.a.34197. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910228

3

Ectopia lentis as the presenting and primary feature in Marfan syndrome.

Zadeh N, Bernstein JA, Niemi AK, Dugan S, Kwan A, Liang D, Hyland JC, Hoyme HE, Hudgins L, Manning MA. Zadeh N, et al. Among authors: niemi ak. Am J Med Genet A. 2011 Nov;155A(11):2661-8. doi: 10.1002/ajmg.a.34245. Epub 2011 Sep 19. Am J Med Genet A. 2011. PMID: 21932315

4

Report of two patients and further characterization of interstitial 9p13 deletion--a rare but recurrent microdeletion syndrome?

Niemi AK, Kwan A, Hudgins L, Cherry AM, Manning MA. Niemi AK, et al. Am J Med Genet A. 2012 Sep;158A(9):2328-35. doi: 10.1002/ajmg.a.35536. Epub 2012 Aug 7. Am J Med Genet A. 2012. PMID: 22887577

5

Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia.

Splinter K, Niemi AK, Cox R, Platt J, Shah M, Enns GM, Kasahara M, Bernstein JA. Splinter K, et al. Among authors: niemi ak. J Genet Couns. 2016 Oct;25(5):936-44. doi: 10.1007/s10897-015-9921-x. Epub 2015 Dec 14. J Genet Couns. 2016. PMID: 26667650

6

Severe thrombocytopenia and intracranial hemorrhage in a newborn with Noonan syndrome and neonatal alloimmune thrombocytopenia.

Carter R, Niemi AK. Carter R, et al. Among authors: niemi ak. Platelets. 2022 May 19;33(4):649-651. doi: 10.1080/09537104.2021.1981845. Epub 2021 Dec 14. Platelets. 2022. PMID: 34904514

7

Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency.

Niemi AK, Brown C, Moore T, Enns GM, Cowan TM. Niemi AK, et al. Mol Genet Metab Rep. 2014 Apr 1;1:129-132. doi: 10.1016/j.ymgmr.2014.02.005. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896081 Free PMC article.

8

Abnormal hepatocellular mitochondria in methylmalonic acidemia.

Wilnai Y, Enns GM, Niemi AK, Higgins J, Vogel H. Wilnai Y, et al. Among authors: niemi ak. Ultrastruct Pathol. 2014 Oct;38(5):309-14. doi: 10.3109/01913123.2014.921657. Epub 2014 Jun 16. Ultrastruct Pathol. 2014. PMID: 24933007

9

Reply: To PMID 25771389.

Niemi AK, Enns GM. Niemi AK, et al. J Pediatr. 2015 Nov;167(5):1173-4. doi: 10.1016/j.jpeds.2015.08.031. Epub 2015 Sep 9. J Pediatr. 2015. PMID: 26362093 No abstract available.

10

Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation.

Niemi AK, Kim IK, Krueger CE, Cowan TM, Baugh N, Farrell R, Bonham CA, Concepcion W, Esquivel CO, Enns GM. Niemi AK, et al. J Pediatr. 2015 Jun;166(6):1455-61.e1. doi: 10.1016/j.jpeds.2015.01.051. Epub 2015 Mar 11. J Pediatr. 2015. PMID: 25771389

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