Nelson T - Search Results

1

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

Mercimek-Mahmutoglu S, Horvath GA, Coulter-Mackie M, Nelson T, Waters PJ, Sargent M, Struys E, Jakobs C, Stockler-Ipsiroglu S, Connolly MB. Mercimek-Mahmutoglu S, et al. Among authors: nelson t. Pediatrics. 2012 May;129(5):e1368-72. doi: 10.1542/peds.2011-0123. Epub 2012 Apr 23. Pediatrics. 2012. PMID: 22529283

2

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.

Sinclair GB, van Karnebeek CDM, Ester M, Boyd F, Nelson T, Stockler-Ipsiroglu S, Vallance H. Sinclair GB, et al. Among authors: nelson t. Mol Genet Metab. 2016 Jul;118(3):173-177. doi: 10.1016/j.ymgme.2016.05.002. Epub 2016 May 7. Mol Genet Metab. 2016. PMID: 27233226

3

SETD1B-associated neurodevelopmental disorder.

Roston A, Evans D, Gill H, McKinnon M, Isidor B, Cogné B, Mwenifumbo J, van Karnebeek C, An J, Jones SJM, Farrer M, Demos M, Connolly M, Gibson WT; CAUSES Study; EPGEN Study. Roston A, et al. J Med Genet. 2021 Mar;58(3):196-204. doi: 10.1136/jmedgenet-2019-106756. Epub 2020 Jun 16. J Med Genet. 2021. PMID: 32546566

4

Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion.

Hewitt J, Ballard JN, Nelson TN, Smith VC, Griffiths TA, Pritchard S, Wu JK, Wadsworth LD, Casey B, MacGillivray RT. Hewitt J, et al. Among authors: nelson tn. Br J Haematol. 2005 Feb;128(3):380-5. doi: 10.1111/j.1365-2141.2004.05296.x. Br J Haematol. 2005. PMID: 15667541 Free article.

5

V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.

Huculak C, Bruyere H, Nelson TN, Kozak FK, Langlois S. Huculak C, et al. Among authors: nelson tn. Am J Med Genet A. 2006 Nov 15;140(22):2394-400. doi: 10.1002/ajmg.a.31486. Am J Med Genet A. 2006. PMID: 17036313

6

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols.

Langlois S, Armstrong L, Gall K, Hulait G, Livingston J, Nelson T, Power P, Pugash D, Siciliano D, Steinraths M, Mattman A. Langlois S, et al. Among authors: nelson t. Prenat Diagn. 2009 Oct;29(10):966-74. doi: 10.1002/pd.2326. Prenat Diagn. 2009. PMID: 19609942

7

Uniparental disomy: can SNP array data be used for diagnosis?

Tucker T, Schlade-Bartusiak K, Eydoux P, Nelson TN, Brown L. Tucker T, et al. Among authors: nelson tn. Genet Med. 2013;14(8):753-756. doi: 10.1038/gim.2012.35. Epub 2012 Apr 26. Genet Med. 2013. PMID: 22538256 Free article.

8

Severe hemolytic disease of the fetus and newborn due to allo-anti-D in a patient with a partial DEL phenotype arising from the variant allele described as RHD*148+1T (RHD*01EL.31).

Turley E, McGowan EC, Hyland CA, Schoeman EM, Flower RL, Skoll A, Delisle MF, Nelson T, Clarke G, Au N. Turley E, et al. Among authors: nelson t. Transfusion. 2018 Oct;58(10):2260-2264. doi: 10.1111/trf.14944. Epub 2018 Sep 17. Transfusion. 2018. PMID: 30222865

9

Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions.

Rajan-Babu IS, Peng JJ, Chiu R; IMAGINE Study; CAUSES Study; Li C, Mohajeri A, Dolzhenko E, Eberle MA, Birol I, Friedman JM. Rajan-Babu IS, et al. Genome Med. 2021 Aug 9;13(1):126. doi: 10.1186/s13073-021-00932-9. Genome Med. 2021. PMID: 34372915 Free PMC article.

10

Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions.

Rajan-Babu IS, Peng JJ, Chiu R; IMAGINE Study; CAUSES Study; Li C, Mohajeri A, Dolzhenko E, Eberle MA, Birol I, Friedman JM. Rajan-Babu IS, et al. Genome Med. 2021 Sep 13;13(1):151. doi: 10.1186/s13073-021-00961-4. Genome Med. 2021. PMID: 34517885 Free PMC article. No abstract available.

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