Lynch BJ - Search Results

1

Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient.

Greer K, Mizzi K, Rice E, Kuster L, Barrero RA, Bellgard MI, Lynch BJ, Foley AR, O Rathallaigh E, Wilton SD, Fletcher S. Greer K, et al. Among authors: lynch bj. Mol Genet Genomic Med. 2015 Jul;3(4):320-6. doi: 10.1002/mgg3.144. Epub 2015 Apr 15. Mol Genet Genomic Med. 2015. PMID: 26247048 Free PMC article.

2

Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.

McGovern M, Flanagan O, Lynch B, Lynch SA, Allen NM. McGovern M, et al. Clin Genet. 2017 Oct;92(4):447-448. doi: 10.1111/cge.13016. Epub 2017 May 25. Clin Genet. 2017. PMID: 28542708

3

Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.

Conroy J, Allen NM, Gorman K, O'Halloran E, Shahwan A, Lynch B, Lynch SA, Ennis S, King MD. Conroy J, et al. J Hum Genet. 2016 Aug;61(8):761-4. doi: 10.1038/jhg.2016.44. Epub 2016 May 19. J Hum Genet. 2016. PMID: 27193218

4

Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes.

Molloy B, Jones ER, Linhares ND, Buckley PG, Leahy TR, Lynch B, Knerr I, King MD, Gorman KM. Molloy B, et al. Front Genet. 2022 Sep 14;13:945296. doi: 10.3389/fgene.2022.945296. eCollection 2022. Front Genet. 2022. PMID: 36186440 Free PMC article.

5

X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype.

Shaughnessy N, Forman EB, O'Rourke D, Lynch SA, Lynch B. Shaughnessy N, et al. Neuromuscul Disord. 2020 Jan;30(1):35-37. doi: 10.1016/j.nmd.2019.11.004. Epub 2019 Nov 14. Neuromuscul Disord. 2020. PMID: 31932168

6

Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.

Geranmayeh F, Clement E, Feng LH, Sewry C, Pagan J, Mein R, Abbs S, Brueton L, Childs AM, Jungbluth H, De Goede CG, Lynch B, Lin JP, Chow G, Sousa Cd, O'Mahony O, Majumdar A, Straub V, Bushby K, Muntoni F. Geranmayeh F, et al. Neuromuscul Disord. 2010 Apr;20(4):241-50. doi: 10.1016/j.nmd.2010.02.001. Epub 2010 Mar 6. Neuromuscul Disord. 2010. PMID: 20207543

7

Limbic encephalitis in a boy with N-methyl-D-aspartate receptor antibodies.

Allen NM, Lynch B, Twomey E. Allen NM, et al. J Pediatr. 2012 Jun;160(6):1060. doi: 10.1016/j.jpeds.2011.12.041. Epub 2012 Feb 14. J Pediatr. 2012. PMID: 22336573 No abstract available.

8

Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms--a further patient.

Allen NM, Conroy J, Shahwan A, Ennis S, Lynch B, Lynch SA, King MD. Allen NM, et al. Am J Med Genet A. 2014 Jul;164A(7):1863-6. doi: 10.1002/ajmg.a.36532. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700477 No abstract available.

9

The variable phenotypes of KCNQ-related epilepsy.

Allen NM, Mannion M, Conroy J, Lynch SA, Shahwan A, Lynch B, King MD. Allen NM, et al. Epilepsia. 2014 Sep;55(9):e99-105. doi: 10.1111/epi.12715. Epub 2014 Jul 22. Epilepsia. 2014. PMID: 25052858 Free article.

10

Chromosomal microarray in unexplained severe early onset epilepsy - A single centre cohort.

Allen NM, Conroy J, Shahwan A, Ennis S, Lynch B, Lynch SA, King MD. Allen NM, et al. Eur J Paediatr Neurol. 2015 Jul;19(4):390-4. doi: 10.1016/j.ejpn.2015.03.010. Epub 2015 Apr 10. Eur J Paediatr Neurol. 2015. PMID: 25920948

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

90 results

Search Page