Morton DH - Search Results

1

Mutant deoxynucleotide carrier is associated with congenital microcephaly.

Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schäffer AA, Biesecker LG. Rosenberg MJ, et al. Among authors: morton dh. Nat Genet. 2002 Sep;32(1):175-9. doi: 10.1038/ng948. Epub 2002 Aug 19. Nat Genet. 2002. PMID: 12185364

2

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.

Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schäffer AA, Francomano CA, Biesecker LG. Johnston JJ, et al. Among authors: morton dh. Am J Hum Genet. 2000 Oct;67(4):814-21. doi: 10.1086/303089. Epub 2000 Aug 21. Am J Hum Genet. 2000. PMID: 10952871 Free PMC article.

3

Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria.

Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH. Kelley RI, et al. Among authors: morton dh. Am J Med Genet. 2002 Nov 1;112(4):318-26. doi: 10.1002/ajmg.10529. Am J Med Genet. 2002. PMID: 12376931

4

Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.

Morton DH, Bennett MJ, Seargeant LE, Nichter CA, Kelley RI. Morton DH, et al. Am J Med Genet. 1991 Oct 1;41(1):89-95. doi: 10.1002/ajmg.1320410122. Am J Med Genet. 1991. PMID: 1951469

5

Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania.

Morton DH, Morton CS, Strauss KA, Robinson DL, Puffenberger EG, Hendrickson C, Kelley RI. Morton DH, et al. Among authors: morton cs. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):5-17. doi: 10.1002/ajmg.c.20002. Am J Med Genet C Semin Med Genet. 2003. PMID: 12888982

6

Diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency in the neonatal period by measurement of medium-chain fatty acids in plasma and filter paper blood samples.

Morton DH, Kelley RI. Morton DH, et al. J Pediatr. 1990 Sep;117(3):439-42. doi: 10.1016/s0022-3476(05)81091-1. J Pediatr. 1990. PMID: 2391601 Free article. No abstract available.

7

3-Hydroxyoctanoic aciduria: identification of a new organic acid in the urine of a patient with non-ketotic hypoglycemia.

Kelley RI, Morton DH. Kelley RI, et al. Among authors: morton dh. Clin Chim Acta. 1988 Jun 30;175(1):19-26. doi: 10.1016/0009-8981(88)90031-9. Clin Chim Acta. 1988. PMID: 3168281

8

Diagnosis and treatment of maple syrup disease: a study of 36 patients.

Morton DH, Strauss KA, Robinson DL, Puffenberger EG, Kelley RI. Morton DH, et al. Pediatrics. 2002 Jun;109(6):999-1008. doi: 10.1542/peds.109.6.999. Pediatrics. 2002. PMID: 12042535

9

A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.

Puffenberger EG, Jinks RN, Wang H, Xin B, Fiorentini C, Sherman EA, Degrazio D, Shaw C, Sougnez C, Cibulskis K, Gabriel S, Kelley RI, Morton DH, Strauss KA. Puffenberger EG, et al. Among authors: morton dh. Hum Mutat. 2012 Dec;33(12):1639-46. doi: 10.1002/humu.22237. Hum Mutat. 2012. PMID: 23065719

10

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.

Strauss KA, DuBiner L, Simon M, Zaragoza M, Sengupta PP, Li P, Narula N, Dreike S, Platt J, Procaccio V, Ortiz-González XR, Puffenberger EG, Kelley RI, Morton DH, Narula J, Wallace DC. Strauss KA, et al. Among authors: morton dh. Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3453-8. doi: 10.1073/pnas.1300690110. Epub 2013 Feb 11. Proc Natl Acad Sci U S A. 2013. PMID: 23401503 Free PMC article.

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