Lambert DM - Search Results

1

An estimate of the cumulative paediatric prevalence of rare diseases in Ireland and comment on the literature.

Gunne E, Lambert DM, Ward AJ, Murphy DN, Treacy EP, Lynch SA. Gunne E, et al. Among authors: lambert dm. Eur J Hum Genet. 2022 Nov;30(11):1211-1215. doi: 10.1038/s41431-022-01144-4. Epub 2022 Jul 19. Eur J Hum Genet. 2022. PMID: 35853949 Free PMC article. No abstract available.

2

Polymorphisms of the Flavin containing monooxygenase 3 (FMO3) gene do not predispose to essential hypertension in Caucasians.

Dolan C, Shields DC, Stanton A, O'Brien E, Lambert DM, O'Brien JK, Treacy EP. Dolan C, et al. Among authors: lambert dm. BMC Med Genet. 2005 Dec 2;6:41. doi: 10.1186/1471-2350-6-41. BMC Med Genet. 2005. PMID: 16324215 Free PMC article.

3

Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic.

Murphy AM, Lambert D, Treacy EP, O'Meara A, Lynch SA. Murphy AM, et al. Arch Dis Child. 2009 Jan;94(1):52-4. doi: 10.1136/adc.2007.135772. Epub 2008 May 7. Arch Dis Child. 2009. PMID: 18463126

4

Outcomes of siblings with classical galactosemia.

Hughes J, Ryan S, Lambert D, Geoghegan O, Clark A, Rogers Y, Hendroff U, Monavari A, Twomey E, Treacy EP. Hughes J, et al. J Pediatr. 2009 May;154(5):721-6. doi: 10.1016/j.jpeds.2008.11.052. Epub 2009 Feb 1. J Pediatr. 2009. PMID: 19181333

5

Diagnostic outcome following routine genetics clinic referral for the assessment of global developmental delay.

Shahdadpuri R, Lambert D, Lynch SA. Shahdadpuri R, et al. Ir Med J. 2009 May;102(5):146-8. Ir Med J. 2009. PMID: 19623810

6

Communication of genetic information by other health professionals: the role of the genetic counsellor in specialist clinics.

O'Shea R, Murphy AM, Treacy E, Lynch SA, Thirlaway K, Lambert D. O'Shea R, et al. J Genet Couns. 2011 Apr;20(2):192-203. doi: 10.1007/s10897-010-9337-6. Epub 2011 Jan 6. J Genet Couns. 2011. PMID: 21210198

7

Hereditary metabolic diseases (HMDs) in adult practice in Ireland: a preliminary assessment.

Morrissey L, Tiernan CA, Lambert D, O'Reilly E, Treacy EP. Morrissey L, et al. Ir J Med Sci. 2013 Dec;182(4):565-71. doi: 10.1007/s11845-013-0927-9. Epub 2013 Mar 23. Ir J Med Sci. 2013. PMID: 23526233

8

Incidence of Fragile X syndrome in Ireland.

O'Byrne JJ, Sweeney M, Donnelly DE, Lambert DM, Beattie ED, Gervin CM, Barton DE, Lynch SA. O'Byrne JJ, et al. Among authors: lambert dm. Am J Med Genet A. 2017 Mar;173(3):678-683. doi: 10.1002/ajmg.a.38081. Epub 2017 Feb 3. Am J Med Genet A. 2017. PMID: 28157260

9

Catalogue of inherited disorders found among the Irish Traveller population.

Lynch SA, Crushell E, Lambert DM, Byrne N, Gorman K, King MD, Green A, O'Sullivan S, Browne F, Hughes J, Knerr I, Monavari AA, Cotter M, McConnell VPM, Kerr B, Jones SA, Keenan C, Murphy N, Cody D, Ennis S, Turner J, Irvine AD, Casey J. Lynch SA, et al. Among authors: lambert dm. J Med Genet. 2018 Apr;55(4):233-239. doi: 10.1136/jmedgenet-2017-104974. Epub 2018 Jan 22. J Med Genet. 2018. PMID: 29358271

10

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.

Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y, Rath A. Nguengang Wakap S, et al. Among authors: lambert dm. Eur J Hum Genet. 2020 Feb;28(2):165-173. doi: 10.1038/s41431-019-0508-0. Epub 2019 Sep 16. Eur J Hum Genet. 2020. PMID: 31527858 Free PMC article.

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