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Items: 1 to 50 of 251

1.

Metabolite flux: A dynamic concept for inherited metabolic disorders as complex traits.

McCabe ERB.

Mol Genet Metab. 2019 Jul 16. pii: S1096-7192(19)30414-7. doi: 10.1016/j.ymgme.2019.07.007. [Epub ahead of print] Review.

PMID:
31331738
2.

Corrigendum to Universal newborn screening: A roadmap for action molecular genetics and metabolism 124 (2018) 177-183.

Howson CP, Cedergren B, Giugliani R, Huhtinen P, Padilla CD, Palubiak CS, Santos MD, Schwartz IVD, Therrell BL, Umemoto A, Wang J, Zeng X, Zhao X, Zhong N, McCabe ERB.

Mol Genet Metab. 2019 Jul;127(3):216-217. doi: 10.1016/j.ymgme.2019.04.009. Epub 2019 Jun 20. No abstract available.

PMID:
31230977
3.

Preventable Preterm Birth: A Patient Safety Problem.

McCabe ERB.

Pediatrics. 2019 May;143(5). pii: e20180940. doi: 10.1542/peds.2018-0940. Epub 2019 Apr 2. Review. No abstract available.

PMID:
30940677
4.

Universal newborn screening: A roadmap for action.

Howson CP, Cedergren B, Giugliani R, Huhtinen P, Padilla CD, Palubiak CS, Santos MD, Schwartz IVD, Therrell BL, Umemoto A, Wang J, Zeng X, Zhao X, Zhong N, McCabe ERB.

Mol Genet Metab. 2018 Jul;124(3):177-183. doi: 10.1016/j.ymgme.2018.04.009. Epub 2018 Apr 25. Erratum in: Mol Genet Metab. 2019 Jul;127(3):216-217.

PMID:
29884465
5.

Modifier genes: Moving from pathogenesis to therapy.

McCabe ERB.

Mol Genet Metab. 2017 Sep;122(1-2):1-3. doi: 10.1016/j.ymgme.2017.05.018. Epub 2017 May 30.

PMID:
28684086
6.

Editorial utility of population-based birth defects surveillance for monitoring the health of infants and as a foundation for etiologic research.

Moore CA, McCabe ER.

Birth Defects Res A Clin Mol Teratol. 2015 Nov;103(11):895-8. doi: 10.1002/bdra.23421. Epub 2015 Oct 12. No abstract available.

7.

Gestational Diabetes Associated with a Novel Mutation (378-379insTT) in the Glycerol Kinase Gene.

Zhang YH, Van Hove JL, McCabe ER, Dipple KM.

Mol Genet Metab Rep. 2015 Sep 1;4:42-45.

8.

Maternal immunization at the crossroads.

Pellegrini C, McCabe ER.

Vaccine. 2015 Nov 25;33(47):6501-2. doi: 10.1016/j.vaccine.2015.06.118. Epub 2015 Aug 6. No abstract available.

9.

Greater risk of hospitalization in children with Down syndrome and OSA at higher elevation.

Jensen KM, Sevick CJ, Seewald LAS, Halbower AC, Davis MM, McCabe ERB, Kempe A, Abman SH.

Chest. 2015 May;147(5):1344-1351. doi: 10.1378/chest.14-1883.

PMID:
25654790
10.

Fighting for the next generation: US Prematurity in 2030.

McCabe ER, Carrino GE, Russell RB, Howse JL.

Pediatrics. 2014 Dec;134(6):1193-9. doi: 10.1542/peds.2014-2541. Epub 2014 Nov 3.

11.

Development of catecholamine and cortisol stress responses in zebrafish.

Eto K, Mazilu-Brown JK, Henderson-MacLennan N, Dipple KM, McCabe ER.

Mol Genet Metab Rep. 2014 Sep 7;1:373-377. eCollection 2014.

12.

Newborn screening: A complex system that requires a culture of safety.

McCabe ER.

Mol Genet Metab. 2014 Sep-Oct;113(1-2):6-7. doi: 10.1016/j.ymgme.2014.03.001. Epub 2014 Mar 19.

PMID:
24726176
13.

Current estimate of Down Syndrome population prevalence in the United States.

Presson AP, Partyka G, Jensen KM, Devine OJ, Rasmussen SA, McCabe LL, McCabe ER.

J Pediatr. 2013 Oct;163(4):1163-8. doi: 10.1016/j.jpeds.2013.06.013. Epub 2013 Jul 23.

14.

A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome.

Fan Y, Steller J, Gonzalez IL, Kulik W, Fox M, Chang R, Westerfield BA, Batra AS, Wang RY, Gallant NM, Pena LS, Wang H, Huang T, Bhuta S, Penny DJ, McCabe ER, Kimonis VE.

JIMD Rep. 2013;11:99-106. doi: 10.1007/8904_2013_228. Epub 2013 Apr 19.

15.

Down syndrome and personalized medicine: changing paradigms from genotype to phenotype to treatment.

McCabe LL, McCabe ER.

Congenit Anom (Kyoto). 2013 Mar;53(1):1-2. doi: 10.1111/cga.12000. Review.

PMID:
23480351
16.

Acute leukemias in children with Down syndrome.

Seewald L, Taub JW, Maloney KW, McCabe ER.

Mol Genet Metab. 2012 Sep;107(1-2):25-30. doi: 10.1016/j.ymgme.2012.07.011. Epub 2012 Jul 20. Review.

PMID:
22867885
17.

Call for change in prenatal counseling for Down syndrome.

McCabe LL, McCabe ER.

Am J Med Genet A. 2012 Mar;158A(3):482-4. doi: 10.1002/ajmg.a.35197. Epub 2012 Feb 7.

PMID:
22315189
18.

Down syndrome: addressing the gaps.

McCabe LL, Hickey F, McCabe ER.

J Pediatr. 2011 Oct;159(4):525-6. doi: 10.1016/j.jpeds.2011.06.026. Epub 2011 Aug 15. No abstract available.

PMID:
21840539
19.

Down syndrome: national conference on patient registries, research databases, and biobanks.

Oster-Granite ML, Parisi MA, Abbeduto L, Berlin DS, Bodine C, Bynum D, Capone G, Collier E, Hall D, Kaeser L, Kaufmann P, Krischer J, Livingston M, McCabe LL, Pace J, Pfenninger K, Rasmussen SA, Reeves RH, Rubinstein Y, Sherman S, Terry SF, Whitten MS, Williams S, McCabe ER, Maddox YT.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):13-22. doi: 10.1016/j.ymgme.2011.07.005. Epub 2011 Jul 13.

20.

Personalized medicine for individuals with Down syndrome.

McCabe LL, McCabe ER.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):7-9. doi: 10.1016/j.ymgme.2011.07.008. Epub 2011 Jul 19. Review.

PMID:
21807541
21.

Moving toward personalized cell-based interventions for adrenal cortical disorders: part 2--Human diseases and tissue engineering.

Mazilu JK, McCabe ER.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):80-8. doi: 10.1016/j.ymgme.2011.06.011. Epub 2011 Jun 24. Review.

PMID:
21764617
22.

Moving toward personalized cell-based interventions for adrenal cortical disorders: part 1--Adrenal development and function, and roles of transcription factors and signaling proteins.

Mazilu JK, McCabe ER.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):72-9. doi: 10.1016/j.ymgme.2011.06.014. Epub 2011 Jun 24. Review.

PMID:
21764344
23.

Down syndrome: coercion and eugenics.

McCabe LL, McCabe ER.

Genet Med. 2011 Aug;13(8):708-10. doi: 10.1097/GIM.0b013e318216db64.

PMID:
21555947
24.

Glycerol homeostasis and metabolism in glycerol kinase carrier mice.

Kosuga M, Henderson-MacLennan NK, Zhang YH, Huang BL, Dipple KM, McCabe ER.

Mol Genet Metab. 2011 Jul;103(3):297-9. doi: 10.1016/j.ymgme.2011.02.008. Epub 2011 Feb 19.

PMID:
21536471
25.

Down syndrome: issues to consider in a national registry, research database and biobank.

McCabe LL, McCabe ER.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):10-2. doi: 10.1016/j.ymgme.2011.03.018. Epub 2011 Mar 26. Review.

PMID:
21501965
26.

Deformability-based cell classification and enrichment using inertial microfluidics.

Hur SC, Henderson-MacLennan NK, McCabe ER, Di Carlo D.

Lab Chip. 2011 Mar 7;11(5):912-20. doi: 10.1039/c0lc00595a. Epub 2011 Jan 27.

PMID:
21271000
27.

ff1b, the SF1 ortholog, is important for pancreatic islet cell development in zebrafish.

Mazilu JK, Powers JW, Lin S, McCabe ER.

Mol Genet Metab. 2010 Dec;101(4):391-4. doi: 10.1016/j.ymgme.2010.09.011. Epub 2010 Oct 1.

PMID:
20965759
28.

The effects of hyperglycemia on adrenal cortex function and steroidogenesis in the zebrafish.

Powers JW, Mazilu JK, Lin S, McCabe ER.

Mol Genet Metab. 2010 Dec;101(4):421-2. doi: 10.1016/j.ymgme.2010.09.012. Epub 2010 Oct 1.

PMID:
20961780
29.

Pathway analysis software: annotation errors and solutions.

Henderson-Maclennan NK, Papp JC, Talbot CC Jr, McCabe ER, Presson AP.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):134-40. doi: 10.1016/j.ymgme.2010.06.005. Epub 2010 Jun 22.

30.

Inborn Errors of Metabolism: the metabolome is our world. Presidential address for the 11th International Congress of Inborn Errors of Metabolism (ICIEM).

McCabe ER.

Mol Genet Metab. 2010 May;100(1):1-5. doi: 10.1016/j.ymgme.2010.01.009. Epub 2010 Jan 25.

PMID:
20172755
31.

Nanopediatrics: enabling personalized medicine for children.

McCabe ER.

Pediatr Res. 2010 May;67(5):453-7. doi: 10.1203/PDR.0b013e3181d61ed2. Review.

PMID:
20118826
32.

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.

Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, Chen A, Kim HS, Lloret MG, Schulze I, Ehl S, Thiel J, Pfeifer D, Veelken H, Niehues T, Siepermann K, Weinspach S, Reisli I, Keles S, Genel F, Kutukculer N, Camcio─člu Y, Somer A, Karakoc-Aydiner E, Barlan I, Gennery A, Metin A, Degerliyurt A, Pietrogrande MC, Yeganeh M, Baz Z, Al-Tamemi S, Klein C, Puck JM, Holland SM, McCabe ER, Grimbacher B, Chatila TA.

J Allergy Clin Immunol. 2009 Dec;124(6):1289-302.e4. doi: 10.1016/j.jaci.2009.10.038. Erratum in: J Allergy Clin Immunol. 2010 Mar;125(3):743. Kutuculer, Necil [corrected to Kutukculer, Necil].

33.

EWS/FLI and its downstream target NR0B1 interact directly to modulate transcription and oncogenesis in Ewing's sarcoma.

Kinsey M, Smith R, Iyer AK, McCabe ER, Lessnick SL.

Cancer Res. 2009 Dec 1;69(23):9047-55. doi: 10.1158/0008-5472.CAN-09-1540. Epub 2009 Nov 17.

34.

The expression of nr0b1, the earliest gene in zebrafish tooth development, is a marker for human tooth and ameloblastoma formation.

Powers J, Zhao Y, Lin S, McCabe ER.

Dev Genes Evol. 2009 Aug;219(8):419-25. doi: 10.1007/s00427-009-0300-1. Epub 2009 Oct 14.

35.

Weighted gene co-expression network analysis identifies biomarkers in glycerol kinase deficient mice.

MacLennan NK, Dong J, Aten JE, Horvath S, Rahib L, Ornelas L, Dipple KM, McCabe ER.

Mol Genet Metab. 2009 Sep-Oct;98(1-2):203-14. doi: 10.1016/j.ymgme.2009.05.004. Epub 2009 May 27.

PMID:
19546021
36.

Mining the x-chromosome for disease genes by deep resequencing.

McCabe ER.

Pediatr Res. 2009 Jul;66(1):2. doi: 10.1203/PDR.0b013e3181aebf63. No abstract available.

PMID:
19542828
37.

Newborn screening as a system from birth through lifelong care.

McCabe LL, McCabe ER.

Genet Med. 2009 Jun;11(6):409-10. doi: 10.1097/GIM.0b013e3181a6dcf0. No abstract available.

PMID:
19533844
38.

Developing a national collaborative study system for rare genetic diseases.

Watson MS, Epstein C, Howell RR, Jones MC, Korf BR, McCabe ER, Simpson JL.

Genet Med. 2008 May;10(5):325-9. doi: 10.1097/GIM.0b013e31817b80fd.

PMID:
18496030
39.

Expanded newborn screening: implications for genomic medicine.

McCabe LL, McCabe ER.

Annu Rev Med. 2008;59:163-75. doi: 10.1146/annurev.med.59.110106.132016. Review.

PMID:
18186702
40.
41.
42.

LXXLL motifs and AF-2 domain mediate SHP (NR0B2) homodimerization and DAX1 (NR0B1)-DAX1A heterodimerization.

Iyer AK, Zhang YH, McCabe ER.

Mol Genet Metab. 2007 Sep-Oct;92(1-2):151-9. Epub 2007 Aug 7.

43.

Development of an advanced electrochemical DNA biosensor for bacterial pathogen detection.

Liao JC, Mastali M, Li Y, Gau V, Suchard MA, Babbitt J, Gornbein J, Landaw EM, McCabe ER, Churchill BM, Haake DA.

J Mol Diagn. 2007 Apr;9(2):158-68.

44.

DAX1: Increasing complexity in the roles of this novel nuclear receptor.

McCabe ER.

Mol Cell Endocrinol. 2007 Feb;265-266:179-82. Epub 2007 Jan 8. Review.

45.

National collaborative study groups: structure, benefits gained and potential for rare genetic diseases.

Moore TB, McCabe ER.

Genet Med. 2006 Dec;8(12):793-6. Review. No abstract available.

PMID:
17172943
46.

Serum-free cultures of murine adrenal cortical cells.

Chu Y, Wu BM, McCabe ER, Dunn JC.

J Pediatr Surg. 2006 Dec;41(12):2008-12.

PMID:
17161193
47.

Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.

Stanczak CM, Chen Z, Zhang YH, Nelson SF, McCabe ER.

Hum Mutat. 2007 Mar;28(3):235-42.

48.

Genome-wide testing: genomic medicine: commentary on the article by Bar-Shira et al. on page 353.

McGhee SA, McCabe ER.

Pediatr Res. 2006 Sep;60(3):243-4. No abstract available.

PMID:
16923947
49.

Completely self-contained cell culture system: from storage to use.

Bhardwaj U, Zhang YH, Rangwala Z, McCabe ER.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):168-73. Epub 2006 Jul 13.

PMID:
16843026
50.

Zebrafish dax1 is required for development of the interrenal organ, the adrenal cortex equivalent.

Zhao Y, Yang Z, Phelan JK, Wheeler DA, Lin S, McCabe ER.

Mol Endocrinol. 2006 Nov;20(11):2630-40. Epub 2006 Jul 13.

PMID:
16840536

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