Ah Mew N - Search Results

1

Haplotype analysis of a BRCA1: 185delAG mutation in a Chilean family supports its Ashkenazi origins.

Ah Mew N, Hamel N, Galvez M, Al-Saffar M, Foulkes WD. Ah Mew N, et al. Clin Genet. 2002 Aug;62(2):151-6. doi: 10.1034/j.1399-0004.2002.620208.x. Clin Genet. 2002. PMID: 12220453

2

Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature.

Campeau PM, Ah Mew N, Cartier L, Mackay KL, Shaffer LG, Der Kaloustian VM, Thomas MA. Campeau PM, et al. Among authors: ah mew n. Am J Med Genet A. 2008 Dec 1;146A(23):3062-9. doi: 10.1002/ajmg.a.32563. Am J Med Genet A. 2008. PMID: 19006213 Review.

3

Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.

Numata S, Koda Y, Ihara K, Sawada T, Okano Y, Matsuura T, Endo F, Yoo HW, Arranz JA, Rubio V, Wermuth B, Ah Mew N, Tuchman M, Pinner JR, Kirk EP, Yoshino M. Numata S, et al. Among authors: ah mew n. J Hum Genet. 2010 Jan;55(1):18-22. doi: 10.1038/jhg.2009.113. Epub 2009 Nov 6. J Hum Genet. 2010. PMID: 19893582

4

A new capillary zone electrophoresis method for the screening of congenital disorders of glycosylation (CDG).

Parente F, Ah Mew N, Jaeken J, Gilfix BM. Parente F, et al. Among authors: ah mew n. Clin Chim Acta. 2010 Jan;411(1-2):64-6. doi: 10.1016/j.cca.2009.10.004. Epub 2009 Oct 27. Clin Chim Acta. 2010. PMID: 19840782

5

Norepinephrine infusion during moderate-intensity exercise increases glucose production and uptake.

Kreisman SH, Ah Mew N, Halter JB, Vranic M, Marliss EB. Kreisman SH, et al. Among authors: ah mew n. J Clin Endocrinol Metab. 2001 May;86(5):2118-24. doi: 10.1210/jcem.86.5.7476. J Clin Endocrinol Metab. 2001. PMID: 11344216

6

Epinephrine infusion during moderate intensity exercise increases glucose production and uptake.

Kreisman SH, Ah Mew N, Arsenault M, Nessim SJ, Halter JB, Vranic M, Marliss EB. Kreisman SH, et al. Among authors: ah mew n. Am J Physiol Endocrinol Metab. 2000 May;278(5):E949-57. doi: 10.1152/ajpendo.2000.278.5.E949. Am J Physiol Endocrinol Metab. 2000. PMID: 10780953 Free article. Clinical Trial.

7

Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.

Summerlin ML, Regier DS, Fraser JL, Chapman KA, Kafashzadeh D, Billington C Jr, Kisling M, Grochowsky A, Ah Mew N, Shur N. Summerlin ML, et al. Among authors: ah mew n. Am J Med Genet A. 2021 Feb;185(2):500-507. doi: 10.1002/ajmg.a.62000. Epub 2020 Dec 10. Am J Med Genet A. 2021. PMID: 33300687

8

Do the data really support ordering fragile X testing as a first-tier test without clinical features?

Weinstein V, Tanpaiboon P, Chapman KA, Ah Mew N, Hofherr S. Weinstein V, et al. Among authors: ah mew n. Genet Med. 2017 Dec;19(12):1317-1322. doi: 10.1038/gim.2017.64. Epub 2017 May 25. Genet Med. 2017. PMID: 28541279 Free PMC article.

9

Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.

Jang YJ, LaBella AL, Feeney TP, Braverman N, Tuchman M, Morizono H, Ah Mew N, Caldovic L. Jang YJ, et al. Among authors: ah mew n. Hum Mutat. 2018 Apr;39(4):527-536. doi: 10.1002/humu.23394. Epub 2018 Jan 16. Hum Mutat. 2018. PMID: 29282796 Free PMC article.

10

Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.

Shi D, Zhao G, Ah Mew N, Tuchman M. Shi D, et al. Among authors: ah mew n. Mol Genet Metab. 2017 Mar;120(3):198-206. doi: 10.1016/j.ymgme.2016.12.002. Epub 2016 Dec 8. Mol Genet Metab. 2017. PMID: 28007335 Free PMC article.

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