Rickard S - Search Results

1

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene.

Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, Saitoh S, Nicholls RD, Poustka A, Winterpacht A, Zabel B, Horsthemke B. Dittrich B, et al. Among authors: rickard s. Nat Genet. 1996 Oct;14(2):163-70. doi: 10.1038/ng1096-163. Nat Genet. 1996. PMID: 8841186

2

Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA.

Rickard SJ, Wilson LC. Rickard SJ, et al. Am J Hum Genet. 2003 Apr;72(4):961-74. doi: 10.1086/374566. Epub 2003 Mar 6. Am J Hum Genet. 2003. PMID: 12624854 Free PMC article.

3

Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS.

Hitchins MP, Rickard S, Dhalla F, Fairbrother UL, de Vries BB, Winter R, Pembrey ME, Malcolm S. Hitchins MP, et al. Among authors: rickard s. Am J Med Genet A. 2004 Mar 1;125A(2):167-72. doi: 10.1002/ajmg.a.20343. Am J Med Genet A. 2004. PMID: 14981718

4

Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM.

Rickard S, Parker M, van't Hoff W, Barnicoat A, Russell-Eggitt I, Winter RM, Bitner-Glindzicz M. Rickard S, et al. Hum Genet. 2001 May;108(5):398-403. doi: 10.1007/s004390100495. Hum Genet. 2001. PMID: 11409867

5

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.

Houseman MJ, Ellis LA, Pagnamenta A, Di WL, Rickard S, Osborn AH, Dahl HH, Taylor GR, Bitner-Glindzicz M, Reardon W, Mueller RF, Kelsell DP. Houseman MJ, et al. Among authors: rickard s. J Med Genet. 2001 Jan;38(1):20-5. doi: 10.1136/jmg.38.1.20. J Med Genet. 2001. PMID: 11134236 Free PMC article.

6

Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.

Rickard S, Boxer M, Trompeter R, Bitner-Glindzicz M. Rickard S, et al. J Med Genet. 2000 Aug;37(8):623-7. doi: 10.1136/jmg.37.8.623. J Med Genet. 2000. PMID: 10991693 Free PMC article. No abstract available.

7

Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families.

Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B, Bitner-Glindzicz M. Rickard S, et al. J Med Genet. 2001 Aug;38(8):530-3. doi: 10.1136/jmg.38.8.530. J Med Genet. 2001. PMID: 11494963 Free PMC article. No abstract available.

8

Nurses' Perceptions of Caring at Work: Mixed-Methods Study, Quantitative Report.

Drake J, Davis TM, O'Brien AM, Parker C, Swamidoss Douglas C, Thomas D, Rickard S, Sintich ME, Gollenberg A, Mowery BD. Drake J, et al. Among authors: rickard s. J Nurs Adm. 2024 Mar 1;54(3):154-159. doi: 10.1097/NNA.0000000000001400. J Nurs Adm. 2024. PMID: 38349869

9

Community stroke team use of home blood pressure monitoring improves blood pressure control after stroke: a quality improvement report.

Rickard S, Ashton C, Shimwell C, Walker T, Worswick L, Lewis P. Rickard S, et al. BMJ Open Qual. 2023 May;12(2):e002067. doi: 10.1136/bmjoq-2022-002067. BMJ Open Qual. 2023. PMID: 37257914 Free PMC article. No abstract available.

10

The Wessex Fit-4-Cancer Surgery Trial (WesFit): a protocol for a factorial-design, pragmatic randomised-controlled trial investigating the effects of a multi-modal prehabilitation programme in patients undergoing elective major intra-cavity cancer surgery.

West M, Bates A, Grimmett C, Allen C, Green R, Hawkins L, Moyses H, Leggett S, Z H Levett D, Rickard S, Varkonyi-Sepp J, Williams F, Wootton S, Hayes M, P W Grocott M, Jack S. West M, et al. Among authors: rickard s. F1000Res. 2021 Sep 21;10:952. doi: 10.12688/f1000research.55324.2. eCollection 2021. F1000Res. 2021. PMID: 36247802 Free PMC article.

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