Au KS - Search Results

1

Promotor genotype of the platelet-derived growth factor receptor-alpha gene shows population stratification but not association with spina bifida meningomyelocele.

Au KS, Northrup H, Kirkpatrick TJ, Volcik KA, Fletcher JM, Townsend IT, Blanton SH, Tyerman GH, Villarreal G, King TM. Au KS, et al. Am J Med Genet A. 2005 Dec 15;139(3):194-8. doi: 10.1002/ajmg.a.31002. Am J Med Genet A. 2005. PMID: 16283668 Free PMC article.

2

Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus.

Kirkpatrick TJ, Au KS, Mastrobattista JM, McCready ME, Bulman DE, Northrup H. Kirkpatrick TJ, et al. Among authors: au ks. J Med Genet. 2003 Jan;40(1):42-4. doi: 10.1136/jmg.40.1.42. J Med Genet. 2003. PMID: 12525541 Free PMC article. No abstract available.

3

Differences in human X isochromosomes.

Priest JH, Blackston RD, Au KS, Ray SL. Priest JH, et al. Among authors: au ks. J Med Genet. 1975 Dec;12(4):378-89. doi: 10.1136/jmg.12.4.378. J Med Genet. 1975. PMID: 1219118 Free PMC article.

4

Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial.

Farach LS, Richard MA, Wulsin AC, Bebin EM, Krueger DA, Sahin M, Porter BE, McPherson TO, Peters JM, O'Kelley S, Taub KS, Rajaraman R, Randle SC, McClintock WM, Koenig MK, Frost MD, Werner K, Nolan DA, Wong M, Cutter G, Northrup H, Au KS; PREVeNT Study Group. Farach LS, et al. Among authors: au ks. Pediatr Neurol. 2024 Oct;159:62-71. doi: 10.1016/j.pediatrneurol.2024.06.012. Epub 2024 Jul 4. Pediatr Neurol. 2024. PMID: 39142021

5

Tuberous Sclerosis Complex.

Northrup H, Koenig MK, Pearson DA, Au KS. Northrup H, et al. Among authors: au ks. 1999 Jul 13 [updated 2024 Aug 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 1999 Jul 13 [updated 2024 Aug 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301399 Free Books & Documents. Review.

6

Morphometric Analysis of Spina Bifida after Fetal Repair Shows New Subtypes with Associated Outcomes.

Mann LK, Pandiri S, Agarwal N, Northrup H, Au KS, Grundberg E, Bergh EP, Austin MT, Patel R, Miller B, Zhu S, Feinberg JS, Lai D, Tsao K, Fletcher SA, Papanna R. Mann LK, et al. Among authors: au ks. medRxiv [Preprint]. 2024 May 29:2024.05.29.24308088. doi: 10.1101/2024.05.29.24308088. medRxiv. 2024. PMID: 38853851 Free PMC article. Preprint.

7

Risk of meningomyelocele mediated by the common 22q11.2 deletion.

Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. Vong KI, et al. Among authors: au ks. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583

8

Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex.

Richard MA, Lupo PJ, Ehli EA, Sahin M, Krueger DA, Wu JY, Bebin EM, Au KS, Northrup H, Farach LS; TACERN Study Group. Richard MA, et al. Among authors: au ks. Am J Med Genet A. 2024 Jun;194(6):e63569. doi: 10.1002/ajmg.a.63569. Epub 2024 Feb 17. Am J Med Genet A. 2024. PMID: 38366765

9

ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans.

Luo H, Lao L, Au KS, Northrup H, He X, Forget D, Gauthier MS, Coulombe B, Bourdeau I, Shi W, Gagliardi L, Fragoso MCBV, Peng J, Wu J. Luo H, et al. Among authors: au ks. Genome Biol. 2024 Jan 15;25(1):19. doi: 10.1186/s13059-023-03147-w. Genome Biol. 2024. PMID: 38225631 Free PMC article.

10

Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants.

Farach LS, Northrup H, Nellist M, van Unen L, Hillman P, Klonowska K, Ekong R, Crino PB, Au KS. Farach LS, et al. Among authors: au ks. Gene. 2023 Aug 15;877:147566. doi: 10.1016/j.gene.2023.147566. Epub 2023 Jun 11. Gene. 2023. PMID: 37311496

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

96 results

Search Page

Filters