Ryan SG - Search Results

1

Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q.

Lewis TB, Leach RJ, Ward K, O'Connell P, Ryan SG. Lewis TB, et al. Among authors: ryan sg. Am J Hum Genet. 1993 Sep;53(3):670-5. Am J Hum Genet. 1993. PMID: 8102508 Free PMC article.

2

Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.

Ryan SG, Dixon MJ, Nigro MA, Kelts KA, Markand ON, Terry JC, Shiang R, Wasmuth JJ, O'Connell P. Ryan SG, et al. Am J Hum Genet. 1992 Dec;51(6):1334-43. Am J Hum Genet. 1992. PMID: 1334371 Free PMC article.

3

Evidence of a third locus for benign familial convulsions.

Lewis TB, Shevell MI, Andermann E, Ryan SG, Leach RJ. Lewis TB, et al. Among authors: ryan sg. J Child Neurol. 1996 May;11(3):211-4. doi: 10.1177/088307389601100310. J Child Neurol. 1996. PMID: 8734025

4

A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse.

Ryan SG, Buckwalter MS, Lynch JW, Handford CA, Segura L, Shiang R, Wasmuth JJ, Camper SA, Schofield P, O'Connell P. Ryan SG, et al. Nat Genet. 1994 Jun;7(2):131-5. doi: 10.1038/ng0694-131. Nat Genet. 1994. PMID: 7920629

5

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.

Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, Leppert M. Charlier C, et al. Among authors: ryan sg. Nat Genet. 1998 Jan;18(1):53-5. doi: 10.1038/ng0198-53. Nat Genet. 1998. PMID: 9425900

6

Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.

Shiang R, Ryan SG, Zhu YZ, Hahn AF, O'Connell P, Wasmuth JJ. Shiang R, et al. Among authors: ryan sg. Nat Genet. 1993 Dec;5(4):351-8. doi: 10.1038/ng1293-351. Nat Genet. 1993. PMID: 8298642

7

Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity.

Ryan SG, Wiznitzer M, Hollman C, Torres MC, Szekeresova M, Schneider S. Ryan SG, et al. Ann Neurol. 1991 May;29(5):469-73. doi: 10.1002/ana.410290504. Ann Neurol. 1991. PMID: 1859177

8

Mutational analysis of familial and sporadic hyperekplexia.

Shiang R, Ryan SG, Zhu YZ, Fielder TJ, Allen RJ, Fryer A, Yamashita S, O'Connell P, Wasmuth JJ. Shiang R, et al. Among authors: ryan sg. Ann Neurol. 1995 Jul;38(1):85-91. doi: 10.1002/ana.410380115. Ann Neurol. 1995. PMID: 7611730

9

Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis.

Ryan SG, Sherman SL, Terry JC, Sparkes RS, Torres MC, Mackey RW. Ryan SG, et al. Ann Neurol. 1992 Jun;31(6):663-8. doi: 10.1002/ana.410310615. Ann Neurol. 1992. PMID: 1355335

10

An autosomal recessive form of benign familial neonatal seizures.

Schiffmann R, Shapira Y, Ryan SG. Schiffmann R, et al. Among authors: ryan sg. Clin Genet. 1991 Dec;40(6):467-70. doi: 10.1111/j.1399-0004.1991.tb03120.x. Clin Genet. 1991. PMID: 1778008

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

33 results

Search Page