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Items: 1 to 50 of 83

1.

Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study.

Wu JY, Goyal M, Peters JM, Krueger D, Sahin M, Northrup H, Au KS, O'Kelley S, Williams M, Pearson DA, Hanson E, Byars AW, Krefting J, Beasley M, Cutter G, Limdi N, Bebin EM.

Epilepsia. 2019 Nov 5. doi: 10.1111/epi.16379. [Epub ahead of print]

PMID:
31691264
2.

Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.

Farach LS, Pearson DA, Woodhouse JP, Schraw JM, Sahin M, Krueger DA, Wu JY, Bebin EM, Lupo PJ, Au KS, Northrup H; TACERN Study Group.

Pediatr Neurol. 2019 Jul;96:58-63. doi: 10.1016/j.pediatrneurol.2019.03.003. Epub 2019 Mar 13.

3.

Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice.

Peron A, Au KS, Northrup H.

Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):281-290. doi: 10.1002/ajmg.c.31651. Epub 2018 Sep 26. Review.

PMID:
30255984
4.

Somewhere between no-blame culture and treating medical errors as crimes.

Au DK.

Hong Kong Med J. 2018 Aug;24(4):330-332. doi: 10.12809/hkmj185080. No abstract available.

5.

Tuberous Sclerosis Complex.

Northrup H, Koenig MK, Pearson DA, Au KS.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
1999 Jul 13 [updated 2018 Jul 12].

6.

Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants.

Davis PE, Filip-Dhima R, Sideridis G, Peters JM, Au KS, Northrup H, Bebin EM, Wu JY, Krueger D, Sahin M; Tuberous Sclerosis Complex Autism Center of Excellence Research Network.

Pediatrics. 2017 Dec;140(6). pii: e20164040. doi: 10.1542/peds.2016-4040. Epub 2017 Nov 3.

7.

Mutations in folate transporter genes and risk for human myelomeningocele.

Findley TO, Tenpenny JC, O'Byrne MR, Morrison AC, Hixson JE, Northrup H, Au KS.

Am J Med Genet A. 2017 Nov;173(11):2973-2984. doi: 10.1002/ajmg.a.38472. Epub 2017 Sep 26.

8.

Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned.

Au KS, Findley TO, Northrup H.

Am J Med Genet A. 2017 Nov;173(11):3042-3057. doi: 10.1002/ajmg.a.38478. Epub 2017 Sep 25. Review.

9.

The genomic landscape of tuberous sclerosis complex.

Martin KR, Zhou W, Bowman MJ, Shih J, Au KS, Dittenhafer-Reed KE, Sisson KA, Koeman J, Weisenberger DJ, Cottingham SL, DeRoos ST, Devinsky O, Winn ME, Cherniack AD, Shen H, Northrup H, Krueger DA, MacKeigan JP.

Nat Commun. 2017 Jun 15;8:15816. doi: 10.1038/ncomms15816.

10.

TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.

Farach LS, Gibson WT, Sparagana SP, Nellist M, Stumpel CT, Hietala M, Friedman E, Pearson DA, Creighton SP, Wagemans A, Segel R, Ben-Shalom E, Au KS, Northrup H.

Am J Med Genet A. 2017 Mar;173(3):771-775. doi: 10.1002/ajmg.a.38083. Review.

PMID:
28211972
11.

Genetic association of the glycine cleavage system genes and myelomeningocele.

Shah RH, Northrup H, Hixson JE, Morrison AC, Au KS.

Birth Defects Res A Clin Mol Teratol. 2016 Oct;106(10):847-853. doi: 10.1002/bdra.23552. Epub 2016 Sep 13.

12.

Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.

Yang J, Bassuk AG, Merl-Pham J, Hsu CW, Colgan DF, Li X, Au KS, Zhang L, Smemo S, Justus S, Nagahama Y, Grossbach AJ, Howard MA 3rd, Kawasaki H, Feldstein NA, Dobyns WB, Northrup H, Hauck SM, Ueffing M, Mahajan VB, Tsang SH.

Hum Mol Genet. 2016 Oct 1;25(19):4201-4210. doi: 10.1093/hmg/ddw253. Epub 2016 Aug 11.

13.

Maternal gene-micronutrient interactions related to one-carbon metabolism and the risk of myelomeningocele among offspring.

Nguyen MP, Lupo PJ, Northrup H, Morrison AC, Cirino PT, Au KS.

Birth Defects Res. 2017 Jan 30;109(2):99-105. doi: 10.1002/bdra.23538.

14.

Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants.

Wu JY, Peters JM, Goyal M, Krueger D, Sahin M, Northrup H, Au KS, Cutter G, Bebin EM.

Pediatr Neurol. 2016 Jan;54:29-34. doi: 10.1016/j.pediatrneurol.2015.09.013. Epub 2015 Sep 25.

15.

Association of facilitated glucose transporter 2 gene variants with the myelomeningocele phenotype.

Ruggiero JE, Northrup H, Au KS.

Birth Defects Res A Clin Mol Teratol. 2015 Jun;103(6):479-87. doi: 10.1002/bdra.23358. Epub 2015 Mar 17.

16.

Genetic variations in the GLUT3 gene associated with myelomeningocele.

Connealy BD, Northrup H, Au KS.

Am J Obstet Gynecol. 2014 Sep;211(3):305.e1-8. doi: 10.1016/j.ajog.2014.05.013. Epub 2014 May 9. Erratum in: Am J Obstet Gynecol. 2015 Sep;213(3):397.

17.

Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele.

Kase BA, Northrup H, Au KS.

Am J Obstet Gynecol. 2013 Oct;209(4):388.e1-7. doi: 10.1016/j.ajog.2013.06.004. Epub 2013 Jun 20.

18.

Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients.

Spellicy CJ, Northrup H, Fletcher JM, Cirino PT, Dennis M, Morrison AC, Martinez CA, Au KS.

PLoS One. 2012;7(12):e51330. doi: 10.1371/journal.pone.0051330. Epub 2012 Dec 5.

19.

Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.

Bassuk AG, Muthuswamy LB, Boland R, Smith TL, Hulstrand AM, Northrup H, Hakeman M, Dierdorff JM, Yung CK, Long A, Brouillette RB, Au KS, Gurnett C, Houston DW, Cornell RA, Manak JR.

Hum Mol Genet. 2013 Mar 15;22(6):1097-111. doi: 10.1093/hmg/dds515. Epub 2012 Dec 7.

20.

Association of copper-zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes with nonsyndromic myelomeningocele.

Kase BA, Northrup H, Morrison AC, Davidson CM, Goiffon AM, Fletcher JM, Ostermaier KK, Tyerman GH, Au KS.

Birth Defects Res A Clin Mol Teratol. 2012 Oct;94(10):762-9. doi: 10.1002/bdra.23065. Epub 2012 Sep 13. Erratum in: Birth Defects Res A Clin Mol Teratol. 2013 Jan;97(1):68.

21.

Clinical benefits of oral nutritional supplementation for elderly hip fracture patients: a single blind randomised controlled trial.

Myint MW, Wu J, Wong E, Chan SP, To TS, Chau MW, Ting KH, Fung PM, Au KS.

Age Ageing. 2013 Jan;42(1):39-45. doi: 10.1093/ageing/afs078. Epub 2012 Jun 8.

PMID:
22685164
22.

Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele.

Aneji CN, Northrup H, Au KS.

Birth Defects Res A Clin Mol Teratol. 2012 Feb;94(2):84-90. doi: 10.1002/bdra.22884. Epub 2012 Jan 12.

23.

Genetic studies of the cystathionine beta-synthase gene and myelomeningocele.

Tilley MM, Northrup H, Au KS.

Birth Defects Res A Clin Mol Teratol. 2012 Jan;94(1):52-6. doi: 10.1002/bdra.22855. Epub 2011 Sep 28.

24.

Association of retinoic acid receptor genes with meningomyelocele.

Tran PX, Au KS, Morrison AC, Fletcher JM, Ostermaier KK, Tyerman GH, Northrup H.

Birth Defects Res A Clin Mol Teratol. 2011 Jan;91(1):39-43. doi: 10.1002/bdra.20744. Epub 2010 Dec 1.

25.

A 10 bp deletion polymorphism and 2 new variations in the GLUT1 gene associated with meningomyelocele.

Cormier CM, Au KS, Northrup H.

Reprod Sci. 2011 May;18(5):463-8. doi: 10.1177/1933719110388293. Epub 2010 Dec 6.

26.

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.

Ruppe MD, Brosnan PG, Au KS, Tran PX, Dominguez BW, Northrup H.

Clin Endocrinol (Oxf). 2011 Mar;74(3):312-8. doi: 10.1111/j.1365-2265.2010.03919.x.

27.

Association of folate receptor (FOLR1, FOLR2, FOLR3) and reduced folate carrier (SLC19A1) genes with meningomyelocele.

O'Byrne MR, Au KS, Morrison AC, Lin JI, Fletcher JM, Ostermaier KK, Tyerman GH, Doebel S, Northrup H.

Birth Defects Res A Clin Mol Teratol. 2010 Aug;88(8):689-94. doi: 10.1002/bdra.20706.

28.

Epidemiologic and genetic aspects of spina bifida and other neural tube defects.

Au KS, Ashley-Koch A, Northrup H.

Dev Disabil Res Rev. 2010;16(1):6-15. doi: 10.1002/ddrr.93. Review.

29.

Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida.

Martinez CA, Northrup H, Lin JI, Morrison AC, Fletcher JM, Tyerman GH, Au KS.

Am J Obstet Gynecol. 2009 Oct;201(4):394.e1-11. doi: 10.1016/j.ajog.2009.06.042. Epub 2009 Aug 15.

30.

Tuberous sclerosis complex: disease modifiers and treatments.

Au KS, Ward CH, Northrup H.

Curr Opin Pediatr. 2008 Dec;20(6):628-33. doi: 10.1097/MOP.0b013e328318c529. Review.

PMID:
19005330
31.

Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals.

Au KS, Tran PX, Tsai CC, O'Byrne MR, Lin JI, Morrison AC, Hampson AW, Cirino P, Fletcher JM, Ostermaier KK, Tyerman GH, Doebel S, Northrup H.

Birth Defects Res A Clin Mol Teratol. 2008 Oct;82(10):692-700. doi: 10.1002/bdra.20499.

32.

Genes in glucose metabolism and association with spina bifida.

Davidson CM, Northrup H, King TM, Fletcher JM, Townsend I, Tyerman GH, Au KS.

Reprod Sci. 2008 Jan;15(1):51-8. doi: 10.1177/1933719107309590.

33.

The impact of BRCA1 on spina bifida meningomyelocele lesions.

King TM, Au KS, Kirkpatrick TJ, Davidson C, Fletcher JM, Townsend I, Tyerman GH, Shimmin LC, Northrup H.

Ann Hum Genet. 2007 Nov;71(Pt 6):719-28. Epub 2007 Jul 19.

34.

Expression of the neural stem cell markers NG2 and L1 in human angiomyolipoma: are angiomyolipomas neoplasms of stem cells?

Lim SD, Stallcup W, Lefkove B, Govindarajan B, Au KS, Northrup H, Lang D, Fisher DE, Patel A, Amin MB, Arbiser JL.

Mol Med. 2007 Mar-Apr;13(3-4):160-5.

35.

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H.

Genet Med. 2007 Feb;9(2):88-100.

PMID:
17304050
36.

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations.

Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R, Domanska-Pakiela D, Kotulska K, Jozwiak S, Kwiatkowski DJ.

Hum Genet. 2007 May;121(3-4):389-400. Epub 2007 Feb 8.

PMID:
17287951
37.

Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome.

Woerner AC, Au KS, Williams AT, Harris PC, Northrup H.

Genet Med. 2006 Mar;8(3):197-8. No abstract available.

PMID:
16540757
38.

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.

Am J Med Genet A. 2005 Dec 15;139(3):194-8.

39.

Molecular genetic basis of tuberous sclerosis complex: from bench to bedside.

Au KS, Williams AT, Gambello MJ, Northrup H.

J Child Neurol. 2004 Sep;19(9):699-709. Review.

PMID:
15563017
40.

Morphometry of the corpus callosum in Chinese children: relationship with gender and academic performance.

Ng WH, Chan YL, Au KS, Yeung KW, Kwan TF, To CY.

Pediatr Radiol. 2005 Jun;35(6):565-71. Epub 2004 Oct 15.

PMID:
15490147
41.

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.

J Med Genet. 2003 Jan;40(1):42-4. No abstract available.

42.

A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.

Khare L, Strizheva GD, Bailey JN, Au KS, Northrup H, Smith M, Smalley SL, Henske EP.

J Med Genet. 2001 May;38(5):347-9. No abstract available.

43.

Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis.

Astrinidis A, Khare L, Carsillo T, Smolarek T, Au KS, Northrup H, Henske EP.

J Med Genet. 2000 Jan;37(1):55-7.

44.

Complete inactivation of the TSC2 gene leads to formation of hamartomas.

Au KS, Hebert AA, Roach ES, Northrup H.

Am J Hum Genet. 1999 Dec;65(6):1790-5. No abstract available.

45.

Germ-line mosaicism in tuberous sclerosis: how common?

Rose VM, Au KS, Pollom G, Roach ES, Prashner HR, Northrup H.

Am J Hum Genet. 1999 Apr;64(4):986-92.

46.

On the surgical treatment of refractory epilepsy in tuberous sclerosis complex.

Baumgartner JE, Wheless JW, Kulkarni S, Northrup H, Au KS, Smith A, Brookshire B.

Pediatr Neurosurg. 1997 Dec;27(6):311-8.

PMID:
9655146
47.

Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

Au KS, Rodriguez JA, Finch JL, Volcik KA, Roach ES, Delgado MR, Rodriguez E Jr, Northrup H.

Am J Hum Genet. 1998 Feb;62(2):286-94.

48.

Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16.

Au KS, Rodriguez JA, Rodriguez E Jr, Dobyns WB, Delgado MR, Northrup H.

Hum Mutat. 1997;9(1):23-9.

PMID:
8990004
49.

Report of a critical recombination further narrowing the TSC1 region.

Au KS, Murrell J, Buckler A, Blanton SH, Northrup H.

J Med Genet. 1996 Jul;33(7):559-61.

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