Drummond-Borg M - Search Results

1

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

2

Evaluating the proportion of isolated cases among a spectrum of birth defects in a population-based registry.

Langlois PH, Marengo L, Lupo PJ, Drummond-Borg M, Agopian AJ, Nembhard WN, Canfield MA. Langlois PH, et al. Among authors: drummond borg m. Birth Defects Res. 2023 Jan 1;115(1):21-25. doi: 10.1002/bdr2.1990. Epub 2022 Feb 26. Birth Defects Res. 2023. PMID: 35218607 Free PMC article.

3

Identifying syndromes in studies of structural birth defects: Guidance on classification and evaluation of potential impact.

Benjamin RH, Mitchell LE, Scheuerle AE, Langlois PH, Canfield MA, Drummond-Borg M, Nguyen JM, Agopian AJ. Benjamin RH, et al. Among authors: drummond borg m. Am J Med Genet A. 2023 Jan;191(1):190-204. doi: 10.1002/ajmg.a.63014. Epub 2022 Oct 26. Am J Med Genet A. 2023. PMID: 36286533 Free PMC article.

4

Newborn screening analytes and structural birth defects among 27,000 newborns.

Lupo PJ, Archer NP, Harris RD, Marengo LK, Schraw JM, Hoyt AT, Tanksley S, Lee R, Drummond-Borg M, Freedenberg D, Shetty PB, Agopian AJ, Shumate C, Rasmussen SA, Langlois PH, Canfield MA. Lupo PJ, et al. Among authors: drummond borg m. PLoS One. 2024 Jul 5;19(7):e0304238. doi: 10.1371/journal.pone.0304238. eCollection 2024. PLoS One. 2024. PMID: 38968308 Free PMC article.

5

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

6

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

7

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

8

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

9

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

10

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.

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