Leo PJ - Search Results

1

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

2

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.

McInerney-Leo AM, Marshall MS, Gardiner B, Benn DE, McFarlane J, Robinson BG, Brown MA, Leo PJ, Clifton-Bligh RJ, Duncan EL. McInerney-Leo AM, et al. Among authors: leo pj. Clin Endocrinol (Oxf). 2014 Jan;80(1):25-33. doi: 10.1111/cen.12331. Epub 2013 Oct 25. Clin Endocrinol (Oxf). 2014. PMID: 24102379

3

Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort.

Johnson SR, Ellis JJ, Leo PJ, Anderson LK, Ganti U, Harris JE, Curran JA, McInerney-Leo AM, Paramalingam N, Song X, Conwell LS, Harris M, Jones TW, Brown MA, Davis EA, Duncan EL. Johnson SR, et al. Among authors: leo pj. Pediatr Diabetes. 2019 Feb;20(1):57-64. doi: 10.1111/pedi.12766. Epub 2018 Nov 14. Pediatr Diabetes. 2019. PMID: 30191644

4

A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young.

Graff SM, Johnson SR, Leo PJ, Dadi PK, Dickerson MT, Nakhe AY, McInerney-Leo AM, Marshall M, Zaborska KE, Schaub CM, Brown MA, Jacobson DA, Duncan EL. Graff SM, et al. Among authors: leo pj. JCI Insight. 2021 Jul 8;6(13):e138057. doi: 10.1172/jci.insight.138057. JCI Insight. 2021. PMID: 34032641 Free PMC article.

5

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

6

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

7

Point mutation in p14^ARF -specific exon 1β of CDKN2A causing familial melanoma and astrocytoma.

McInerney-Leo AM, Wheeler L, Sturm RA, Tan JM, Harris JE, Anderson L, Jagirdar K, Brown MA, Leo PJ, Soyer HP, Duncan EL. McInerney-Leo AM, et al. Among authors: leo pj. Br J Dermatol. 2018 Apr;178(4):e263-e264. doi: 10.1111/bjd.16275. Epub 2018 Feb 19. Br J Dermatol. 2018. PMID: 29278422 No abstract available.

8

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.

9

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

10

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

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