Berg J - Search Results

1

Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing.

Hocking LJ, Andrews C, Armstrong C, Ansari M, Baty D, Berg J, Bradley T, Clark C, Diamond A, Doherty J, Lampe A, McGowan R, Moore DJ, O'Sullivan D, Purvis A, Santoyo-Lopez J, Westwood P, Abbott M, Williams N; Scottish Genomes Partnership; Aitman TJ, Miedzybrodzka Z. Hocking LJ, et al. Among authors: berg j. Eur J Hum Genet. 2023 Feb;31(2):231-238. doi: 10.1038/s41431-022-01226-3. Epub 2022 Dec 6. Eur J Hum Genet. 2023. PMID: 36474026 Free PMC article.

2

Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?

Berg JN, Guttmacher AE, Marchuk DA, Porteous ME. Berg JN, et al. J Med Genet. 1996 Mar;33(3):256-7. doi: 10.1136/jmg.33.3.256. J Med Genet. 1996. PMID: 8728706 Free PMC article.

3

The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.

Berg JN, Gallione CJ, Stenzel TT, Johnson DW, Allen WP, Schwartz CE, Jackson CE, Porteous ME, Marchuk DA. Berg JN, et al. Am J Hum Genet. 1997 Jul;61(1):60-7. doi: 10.1086/513903. Am J Hum Genet. 1997. PMID: 9245985 Free PMC article.

4

Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland.

Holloway SM, Wilcox DE, Wilcox A, Dean JC, Berg JN, Goudie DR, Denvir MA, Porteous ME. Holloway SM, et al. Among authors: berg jn. Heart. 2008 May;94(5):633-6. doi: 10.1136/hrt.2007.125948. Epub 2007 Oct 11. Heart. 2008. PMID: 17932095

5

Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort.

Pearson M, McGowan R, Greene P, Lam W, Miedzybrodzka Z, Berg J. Pearson M, et al. Among authors: berg j. Eur J Hum Genet. 2024 Jun;32(6):731-735. doi: 10.1038/s41431-024-01607-w. Epub 2024 Apr 16. Eur J Hum Genet. 2024. PMID: 38627541 Free PMC article.

6

Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.

Ellard S, Morgan S, Wynn SL, Walker S, Parrish A, Mein R, Juett A, Ahn JW, Berry I, Cassidy EJ, Durkie M, Fish L, Hall R, Howard E, Rankin J, Wright CF, Deans ZC, Scott RH, Hill SL, Baple EL, Taylor RW; Association for Clinical Genomic Science Rare Disease Position Statement Working Group. Ellard S, et al. J Med Genet. 2024 Nov 25;61(12):1103-1112. doi: 10.1136/jmg-2024-110228. J Med Genet. 2024. PMID: 39327040 Free PMC article.

7

Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.

McAllister KA, Baldwin MA, Thukkani AK, Gallione CJ, Berg JN, Porteous ME, Guttmacher AE, Marchuk DA. McAllister KA, et al. Among authors: berg jn. Hum Mol Genet. 1995 Oct;4(10):1983-5. doi: 10.1093/hmg/4.10.1983. Hum Mol Genet. 1995. PMID: 8595426 No abstract available.

8

Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteous ME, Marchuk DA. Johnson DW, et al. Among authors: berg jn. Nat Genet. 1996 Jun;13(2):189-95. doi: 10.1038/ng0696-189. Nat Genet. 1996. PMID: 8640225

9

Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation?

Berg JN, Walter JW, Thisanagayam U, Evans M, Blei F, Waner M, Diamond AG, Marchuk DA, Porteous ME. Berg JN, et al. J Clin Pathol. 2001 Mar;54(3):249-52. doi: 10.1136/jcp.54.3.249. J Clin Pathol. 2001. PMID: 11253142 Free PMC article.

10

A family with hereditary port wine stain.

Berg JN, Quaba AA, Georgantopoulou A, Porteous ME. Berg JN, et al. J Med Genet. 2000 Aug;37(8):E12. doi: 10.1136/jmg.37.8.e12. J Med Genet. 2000. PMID: 10922392 Free PMC article. No abstract available.

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