McCabe ER - Search Results

1

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal.

Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, Ferrante E, Chiumello G, McCabe ER, Fraccaro M, et al. Bardoni B, et al. Among authors: mccabe er. Nat Genet. 1994 Aug;7(4):497-501. doi: 10.1038/ng0894-497. Nat Genet. 1994. PMID: 7951319

2

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita.

Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli S, Guo W, Lalli E, Moser C, Walker AP, McCabe ER, et al. Zanaria E, et al. Among authors: mccabe er. Nature. 1994 Dec 15;372(6507):635-41. doi: 10.1038/372635a0. Nature. 1994. PMID: 7990953

3

Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency.

Worley KC, Lindsay EA, Bailey W, Wise J, McCabe ER, Baldini A. Worley KC, et al. Among authors: mccabe er. Am J Med Genet. 1995 Jul 17;57(4):615-9. doi: 10.1002/ajmg.1320570420. Am J Med Genet. 1995. PMID: 7573140

4

Identification of new members of a carbohydrate kinase-encoding gene family.

Worley KC, King KY, Chua S, McCabe ER, Smith RF. Worley KC, et al. Among authors: mccabe er. J Comput Biol. 1995 Fall;2(3):451-8. doi: 10.1089/cmb.1995.2.451. J Comput Biol. 1995. PMID: 8521274

5

Characterization of human genomic yeast artificial chromosome inserts containing hexokinase 1 coding information on chromosome 10.

Gelb BD, Worley KC, Griffin LD, Adams V, Chinault AC, McCabe ER. Gelb BD, et al. Among authors: mccabe er. Biochem Med Metab Biol. 1992 Jun;47(3):265-9. doi: 10.1016/0885-4505(92)90035-w. Biochem Med Metab Biol. 1992. PMID: 1627358

6

Porin interaction with hexokinase and glycerol kinase: metabolic microcompartmentation at the outer mitochondrial membrane.

Adams V, Griffin L, Towbin J, Gelb B, Worley K, McCabe ER. Adams V, et al. Among authors: mccabe er. Biochem Med Metab Biol. 1991 Jun;45(3):271-91. doi: 10.1016/0885-4505(91)90032-g. Biochem Med Metab Biol. 1991. PMID: 1710914 Review.

7

Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints.

McCabe ER, Towbin JA, van den Engh G, Trask BJ. McCabe ER, et al. Am J Hum Genet. 1992 Dec;51(6):1277-85. Am J Hum Genet. 1992. PMID: 1463011 Free PMC article.

8

AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.

Zhang Y, Dipple KM, Vilain E, Huang BL, Finlayson G, Therrell BL, Worley K, Deininger P, McCabe ER. Zhang Y, et al. Among authors: mccabe er. Hum Mutat. 2000;15(4):316-23. doi: 10.1002/(SICI)1098-1004(200004)15:4<316::AID-HUMU3>3.0.CO;2-9. Hum Mutat. 2000. PMID: 10737976

9

Isodicentric X chromosome in a patient with Turner syndrome--implications for localization of the X-inactivation center.

Pettigrew AL, McCabe ER, Elder FF, Ledbetter DH. Pettigrew AL, et al. Among authors: mccabe er. Hum Genet. 1991 Aug;87(4):498-502. doi: 10.1007/BF00197176. Hum Genet. 1991. PMID: 1879836

10

Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome.

Ellison KA, Roth EJ, McCabe ER, Chinault AC, Zoghbi HY. Ellison KA, et al. Among authors: mccabe er. Am J Med Genet. 1993 Nov 15;47(7):1124-34. doi: 10.1002/ajmg.1320470736. Am J Med Genet. 1993. PMID: 8291533

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

259 results

Search Page

Filters