Elsas LJ - Search Results

1

Verification of the fetal valproate syndrome phenotype.

Ardinger HH, Atkin JF, Blackston RD, Elsas LJ, Clarren SK, Livingstone S, Flannery DB, Pellock JM, Harrod MJ, Lammer EJ, et al. Ardinger HH, et al. Among authors: elsas lj. Am J Med Genet. 1988 Jan;29(1):171-85. doi: 10.1002/ajmg.1320290123. Am J Med Genet. 1988. PMID: 3125743 Review.

2

Gender verification of female athletes.

Elsas LJ, Ljungqvist A, Ferguson-Smith MA, Simpson JL, Genel M, Carlson AS, Ferris E, de la Chapelle A, Ehrhardt AA. Elsas LJ, et al. Genet Med. 2000 Jul-Aug;2(4):249-54. doi: 10.1097/00125817-200007000-00008. Genet Med. 2000. PMID: 11252710 Free article.

3

Campomelic syndrome and deletion of SOX9.

Olney PN, Kean LS, Graham D, Elsas LJ, May KM. Olney PN, et al. Among authors: elsas lj. Am J Med Genet. 1999 May 7;84(1):20-4. Am J Med Genet. 1999. PMID: 10213041

4

Clinical and biochemical analysis of two families with type I and type II mannosidosis.

Bennet JK, Dembure PP, Elsas LJ. Bennet JK, et al. Among authors: elsas lj. Am J Med Genet. 1995 Jan 2;55(1):21-6. doi: 10.1002/ajmg.1320550108. Am J Med Genet. 1995. PMID: 7702090

5

Cessation of enzyme replacement therapy in Gaucher disease.

Grinzaid KA, Geller E, Hanna SL, Elsas LJ 2nd. Grinzaid KA, et al. Among authors: elsas lj 2nd. Genet Med. 2002 Nov-Dec;4(6):427-33. doi: 10.1097/00125817-200211000-00005. Genet Med. 2002. PMID: 12509713

6

Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance.

Longo N, Langley SD, Griffin LD, Elsas LJ 2nd. Longo N, et al. Among authors: elsas lj 2nd. Am J Hum Genet. 1992 May;50(5):998-1007. Am J Hum Genet. 1992. PMID: 1315125 Free PMC article.

7

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

Elsas LJ, Langley S, Steele E, Evinger J, Fridovich-Keil JL, Brown A, Singh R, Fernhoff P, Hjelm LN, Dembure PP. Elsas LJ, et al. Am J Hum Genet. 1995 Mar;56(3):630-9. Am J Hum Genet. 1995. PMID: 7887416 Free PMC article.

8

Restriction fragment length polymorphisms of the insulin receptor gene in families with insulin resistance and leprechaunism.

Longo N, Fotion TR, Langley S, Elsas LJ 2nd. Longo N, et al. Among authors: elsas lj 2nd. Am J Med Sci. 1989 Dec;298(6):366-70. doi: 10.1097/00000441-198912000-00002. Am J Med Sci. 1989. PMID: 2574533

9

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

Girirajan S, Elsas LJ 2nd, Devriendt K, Elsea SH. Girirajan S, et al. Among authors: elsas lj 2nd. J Med Genet. 2005 Nov;42(11):820-8. doi: 10.1136/jmg.2005.031211. Epub 2005 Mar 23. J Med Genet. 2005. PMID: 15788730 Free PMC article.

10

A common mutation associated with the Duarte galactosemia allele.

Elsas LJ, Dembure PP, Langley S, Paulk EM, Hjelm LN, Fridovich-Keil J. Elsas LJ, et al. Am J Hum Genet. 1994 Jun;54(6):1030-6. Am J Hum Genet. 1994. PMID: 8198125 Free PMC article.

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