Leo PJ - Search Results

1

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.

Cortés CR, McInerney-Leo AM, Vogel I, Rondón Galeano MC, Leo PJ, Harris JE, Anderson LK, Keith PA, Brown MA, Ramsing M, Duncan EL, Zankl A, Wicking C. Cortés CR, et al. Among authors: leo pj. Sci Rep. 2016 Apr 20;6:24083. doi: 10.1038/srep24083. Sci Rep. 2016. PMID: 27094867 Free PMC article.

2

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.

McInerney-Leo AM, Wheeler L, Marshall MS, Anderson LK, Zankl A, Brown MA, Leo PJ, Wicking C, Duncan EL. McInerney-Leo AM, et al. Among authors: leo pj. Am J Med Genet A. 2017 Jun;173(6):1698-1704. doi: 10.1002/ajmg.a.38215. Epub 2017 Apr 19. Am J Med Genet A. 2017. PMID: 28422394

3

COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

McInerney-Leo AM, Duncan EL, Leo PJ, Gardiner B, Bradbury LA, Harris JE, Clark GR, Brown MA, Zankl A. McInerney-Leo AM, et al. Among authors: leo pj. Clin Genet. 2015 Jul;88(1):49-55. doi: 10.1111/cge.12440. Epub 2014 Aug 15. Clin Genet. 2015. PMID: 24891183

4

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.

McInerney-Leo AM, Harris JE, Leo PJ, Marshall MS, Gardiner B, Kinning E, Leong HY, McKenzie F, Ong WP, Vodopiutz J, Wicking C, Brown MA, Zankl A, Duncan EL. McInerney-Leo AM, et al. Among authors: leo pj. Clin Genet. 2015 Dec;88(6):550-7. doi: 10.1111/cge.12550. Epub 2015 Feb 17. Clin Genet. 2015. PMID: 25492405

5

Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism.

Johnson SR, Leo PJ, McInerney-Leo AM, Anderson LK, Marshall M, McGown I, Newell F, Brown MA, Conwell LS, Harris M, Duncan EL. Johnson SR, et al. Among authors: leo pj. Pediatr Diabetes. 2018 Jun;19(4):656-662. doi: 10.1111/pedi.12638. Epub 2018 Feb 8. Pediatr Diabetes. 2018. PMID: 29417725

6

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.

McInerney-Leo AM, Schmidts M, Cortés CR, Leo PJ, Gener B, Courtney AD, Gardiner B, Harris JA, Lu Y, Marshall M; UK10K Consortium; Scambler PJ, Beales PL, Brown MA, Zankl A, Mitchison HM, Duncan EL, Wicking C. McInerney-Leo AM, et al. Among authors: leo pj. Am J Hum Genet. 2013 Sep 5;93(3):515-23. doi: 10.1016/j.ajhg.2013.06.022. Epub 2013 Aug 1. Am J Hum Genet. 2013. PMID: 23910462 Free PMC article.

7

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

McInerney-Leo AM, Marshall MS, Gardiner B, Coucke PJ, Van Laer L, Loeys BL, Summers KM, Symoens S, West JA, West MJ, Paul Wordsworth B, Zankl A, Leo PJ, Brown MA, Duncan EL. McInerney-Leo AM, et al. Among authors: leo pj. Bonekey Rep. 2013 Dec 4;2:456. doi: 10.1038/bonekey.2013.190. eCollection 2013. Bonekey Rep. 2013. PMID: 24501682 Free PMC article.

8

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

McInerney-Leo AM, Sparrow DB, Harris JE, Gardiner BB, Marshall MS, O'Reilly VC, Shi H, Brown MA, Leo PJ, Zankl A, Dunwoodie SL, Duncan EL. McInerney-Leo AM, et al. Among authors: leo pj. Hum Mol Genet. 2015 Mar 1;24(5):1234-42. doi: 10.1093/hmg/ddu534. Epub 2014 Oct 24. Hum Mol Genet. 2015. PMID: 25343988

9

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

McInerney-Leo AM, Harris JE, Gattas M, Peach EE, Sinnott S, Dudding-Byth T, Rajagopalan S, Barnett CP, Anderson LK, Wheeler L, Brown MA, Leo PJ, Wicking C, Duncan EL. McInerney-Leo AM, et al. Among authors: leo pj. Hum Mutat. 2016 Jul;37(7):695-702. doi: 10.1002/humu.22994. Epub 2016 May 6. Hum Mutat. 2016. PMID: 27038415

10

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V. McInerney-Leo AM, et al. Among authors: leo pj. J Med Genet. 2016 Jul;53(7):457-64. doi: 10.1136/jmedgenet-2015-103647. Epub 2016 Apr 11. J Med Genet. 2016. PMID: 27068007

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

88 results

Search Page