Drummond-Borg M - Search Results

1

Molecular analysis of phenylketonuria (PKU) in newborns from Texas.

Yang Y, Drummond-Borg M, Garcia-Heras J. Yang Y, et al. Hum Mutat. 2001 Jun;17(6):523. doi: 10.1002/humu.1141. Hum Mutat. 2001. PMID: 11385716

2

Maternal complex chromosome rearrangement ascertained through a del (13)(q12.1q14.1) detected in her mildly affected daughter.

Drummond-Borg M, Kulharya AS, Tonk V, Garcia-Heras J. Drummond-Borg M, et al. Am J Med Genet. 2002 Jan 1;107(1):61-3. doi: 10.1002/ajmg.10126. Am J Med Genet. 2002. PMID: 11807870

3

Newborn screening for congenital hypothyroidism: the Texas experience.

Drummond-Borg M, Aldis B, Johnson D, Wilson DP. Drummond-Borg M, et al. Tex Med. 2003 Sep;99(9):50-2. Tex Med. 2003. PMID: 14650804

4

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MAM, Bézieau S, Cogné B, Isidor B, Küry S, Lupski JR, Myers RM, Cooper GM, Kutsche K. Harms FL, et al. Am J Hum Genet. 2017 Jan 5;100(1):117-127. doi: 10.1016/j.ajhg.2016.11.012. Epub 2016 Dec 22. Am J Hum Genet. 2017. PMID: 28017373 Free PMC article.

5

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.

Moysés-Oliveira M, Giannuzzi G, Fish RJ, Rosenfeld JA, Petit F, Soares MF, Kulikowski LD, Di-Battista A, Zamariolli M, Xia F, Liehr T, Kosyakova N, Carvalheira G, Parker M, Seaby EG, Ennis S, Gilbert RD, Hagelstrom RT, Cremona ML, Li WL, Malhotra A, Chandrasekhar A, Perry DL, Taft RJ, McCarrier J, Basel DG, Andrieux J, Stumpp T, Antunes F, Pereira GJ, Neerman-Arbez M, Meloni VA, Drummond-Borg M, Melaragno MI, Reymond A. Moysés-Oliveira M, et al. Among authors: drummond borg m. Hum Mutat. 2018 Feb;39(2):281-291. doi: 10.1002/humu.23373. Epub 2017 Dec 14. Hum Mutat. 2018. PMID: 29193635

6

Trisomy 22: no longer an enigma.

Kukolich MK, Kulharya A, Jalal SM, Drummond-Borg M. Kukolich MK, et al. Am J Med Genet. 1989 Dec;34(4):541-4. doi: 10.1002/ajmg.1320340417. Am J Med Genet. 1989. PMID: 2624265

7

Genetic susceptibility to aminoglycoside ototoxicity: how many are at risk?

Tang HY, Hutcheson E, Neill S, Drummond-Borg M, Speer M, Alford RL. Tang HY, et al. Genet Med. 2002 Sep-Oct;4(5):336-45. doi: 10.1097/00125817-200209000-00004. Genet Med. 2002. PMID: 12394346 Free article.

8

Proximity of pediatric genetic services to children with birth defects in Texas.

Case AP, Canfield MA, Barnett A, Raimondo P, Drummond-Borg M, Livingston J, Kowalik J. Case AP, et al. Birth Defects Res A Clin Mol Teratol. 2008 Nov;82(11):795-8. doi: 10.1002/bdra.20515. Birth Defects Res A Clin Mol Teratol. 2008. PMID: 18985692

9

Trends in incidence rates of congenital hypothyroidism related to select demographic factors: data from the United States, California, Massachusetts, New York, and Texas.

Hinton CF, Harris KB, Borgfeld L, Drummond-Borg M, Eaton R, Lorey F, Therrell BL, Wallace J, Pass KA. Hinton CF, et al. Pediatrics. 2010 May;125 Suppl 2:S37-47. doi: 10.1542/peds.2009-1975D. Pediatrics. 2010. PMID: 20435716

10

The impact of transient hypothyroidism on the increasing rate of congenital hypothyroidism in the United States.

Parks JS, Lin M, Grosse SD, Hinton CF, Drummond-Borg M, Borgfeld L, Sullivan KM. Parks JS, et al. Pediatrics. 2010 May;125 Suppl 2:S54-63. doi: 10.1542/peds.2009-1975F. Pediatrics. 2010. PMID: 20435718

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