Muilenburg A - Search Results

1

MAT2A mutations predispose individuals to thoracic aortic aneurysms.

Guo DC, Gong L, Regalado ES, Santos-Cortez RL, Zhao R, Cai B, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A, Willing M, Jondeau G, Boileau C, Pannu H, Moran R, Debacker J; GenTAC Investigators, National Heart, Lung, and Blood Institute Go Exome Sequencing Project; Montalcino Aortic Consortium; Bamshad MJ, Shendure J, Nickerson DA, Leal SM, Raman CS, Swindell EC, Milewicz DM. Guo DC, et al. Among authors: muilenburg a. Am J Hum Genet. 2015 Jan 8;96(1):170-7. doi: 10.1016/j.ajhg.2014.11.015. Epub 2014 Dec 31. Am J Hum Genet. 2015. PMID: 25557781 Free PMC article.

2

Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25.

Hasham SN, Willing MC, Guo DC, Muilenburg A, He R, Tran VT, Scherer SE, Shete SS, Milewicz DM. Hasham SN, et al. Among authors: muilenburg a. Circulation. 2003 Jul 1;107(25):3184-90. doi: 10.1161/01.CIR.0000078634.33124.95. Epub 2003 Jun 23. Circulation. 2003. PMID: 12821554

3

Nonsyndromic genetic predisposition to aortic dissection: a newly recognized, diagnosable, and preventable occurrence in families.

Hasham SN, Lewin MR, Tran VT, Pannu H, Muilenburg A, Willing M, Milewicz DM. Hasham SN, et al. Among authors: muilenburg a. Ann Emerg Med. 2004 Jan;43(1):79-82. doi: 10.1016/s0196-0644(03)00818-7. Ann Emerg Med. 2004. PMID: 14707946

4

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

Villamizar C, Regalado ES, Fadulu VT, Hasham SN, Gupta P, Willing MC, Kuang SQ, Guo D, Muilenburg A, Yee RW, Fan Y, Towbin J, Coselli JS, LeMaire SA, Milewicz DM. Villamizar C, et al. Among authors: muilenburg a. Eur J Med Genet. 2010 Mar-Apr;53(2):80-4. doi: 10.1016/j.ejmg.2009.11.001. Epub 2009 Nov 23. Eur J Med Genet. 2010. PMID: 19941982 Free PMC article.

5

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).

Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC. Keppler-Noreuil KM, et al. Among authors: muilenburg a. Am J Med Genet A. 2011 May;155A(5):1021-32. doi: 10.1002/ajmg.a.33892. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465651 Review.

6

Unique phenotype associated with a pericentric inversion of chromosome 6 in three generations.

Wenstrom KD, Muilenburg AC, Patil SR, Hanson JW. Wenstrom KD, et al. Among authors: muilenburg ac. Am J Med Genet. 1991 Apr 1;39(1):102-5. doi: 10.1002/ajmg.1320390122. Am J Med Genet. 1991. PMID: 1867252

7

Psychosocial impact of predictive testing for Huntington disease on support persons.

Williams JK, Schutte DL, Holkup PA, Evers C, Muilenburg A. Williams JK, et al. Among authors: muilenburg a. Am J Med Genet. 2000 Jun 12;96(3):353-9. doi: 10.1002/1096-8628(20000612)96:3<353::aid-ajmg23>3.0.co;2-9. Am J Med Genet. 2000. PMID: 10898914

8

A case of Williams syndrome with a large, visible cytogenetic deletion.

Wu YQ, Nickerson E, Shaffer LG, Keppler-Noreuil K, Muilenburg A. Wu YQ, et al. Among authors: muilenburg a. J Med Genet. 1999 Dec;36(12):928-32. J Med Genet. 1999. PMID: 10636739 Free PMC article. No abstract available.

9

Developmental delay and multiple congenital anomalies in a child with a unique combination of partial monosomy 18 and partial trisomy 16.

Schmidt N, Van Dyke DC, Keppler-Noreuil K, Muilenburg A, Patil S, Kanis AB. Schmidt N, et al. Among authors: muilenburg a. Dev Med Child Neurol. 2001 Feb;43(2):130-2. doi: 10.1017/s0012162201000238. Dev Med Child Neurol. 2001. PMID: 11221902 Free article.

10

Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping.

Chen AH, Mueller RF, Prasad SD, Greinwald JH Jr, Manaligod J, Muilenburg AC, Verhoeven K, Van Camp G, Smith RJ. Chen AH, et al. Among authors: muilenburg ac. Arch Otolaryngol Head Neck Surg. 1998 Jan;124(1):20-4. doi: 10.1001/archotol.124.1.20. Arch Otolaryngol Head Neck Surg. 1998. PMID: 9440775 Review.

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