Urban MF - Search Results

1

Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients.

Bezuidenhout H, Bayley S, Smit L, Kinnear C, Möller M, Uren C, Urban MF. Bezuidenhout H, et al. Among authors: urban mf. Am J Med Genet A. 2020 Oct;182(10):2230-2235. doi: 10.1002/ajmg.a.61797. Epub 2020 Aug 26. Am J Med Genet A. 2020. PMID: 32845056

2

Implications of direct-to-consumer whole-exome sequencing in South Africa.

Lombard Z, Baine F, Krause A, Lochan A, Macualay S, Spencer C, Aldous C, De Vries J, Fieggen K, Henderson B, Hoal E, Kinnear C, Kinsley N, September A, Urban M, Soodyall H, Pepper M, Ramsay M. Lombard Z, et al. S Afr Med J. 2016 Jan 12;106(2):139-40. doi: 10.7196/SAMJ.2016.v106i2.10534. S Afr Med J. 2016. PMID: 26821891

3

Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.

Kinnear C, Glanzmann B, Banda E, Schlechter N, Durrheim G, Neethling A, Nel E, Schoeman M, Johnson G, van Helden PD, Hoal EG, Esser M, Urban M, Möller M. Kinnear C, et al. BMC Med Genet. 2017 Mar 14;18(1):26. doi: 10.1186/s12881-017-0388-5. BMC Med Genet. 2017. PMID: 28292286 Free PMC article.

4

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency.

Schlechter N, Glanzmann B, Hoal EG, Schoeman M, Petersen BS, Franke A, Lau YL, Urban M, van Helden PD, Esser MM, Möller M, Kinnear C. Schlechter N, et al. Front Immunol. 2017 Nov 27;8:1624. doi: 10.3389/fimmu.2017.01624. eCollection 2017. Front Immunol. 2017. PMID: 29230214 Free PMC article.

5

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.

Glanzmann B, Möller M, Moncada-Velez M, Peter J, Urban M, van Helden PD, Hoal EG, de Villiers N, Glashoff RH, Nortje R, Bustamante J, Abel L, Casanova JL, Boisson-Dupuis S, Esser M, Kinnear CJ. Glanzmann B, et al. J Clin Immunol. 2018 May;38(4):460-463. doi: 10.1007/s10875-018-0509-8. Epub 2018 May 18. J Clin Immunol. 2018. PMID: 29777412 Free PMC article. No abstract available.

6

Primary immunodeficiency diseases in a tuberculosis endemic region: challenges and opportunities.

Glanzmann B, Uren C, de Villiers N, van Coller A, Glashoff RH, Urban M, Hoal EG, Esser MM, Möller M, Kinnear CJ. Glanzmann B, et al. Genes Immun. 2019 Jul;20(6):447-454. doi: 10.1038/s41435-018-0041-0. Epub 2018 Sep 6. Genes Immun. 2019. PMID: 30185814 Review.

7

CHARGE syndrome: genetic aspects and dental challenges, a review and case presentation.

Chetty M, Roberts TS, Elmubarak M, Bezuidenhout H, Smit L, Urban M. Chetty M, et al. Head Face Med. 2020 May 8;16(1):10. doi: 10.1186/s13005-020-00224-4. Head Face Med. 2020. PMID: 32384900 Free PMC article. Review.

8

Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report.

Glanzmann B, Möller M, Schoeman M, Urban M, van Helden PD, Frigati L, Grewal R, Pieters H, Loos B, Hoal EG, Glashoff RH, Cornelissen H, Rabie H, Esser MM, Kinnear CJ. Glanzmann B, et al. BMC Med Genet. 2020 Jun 5;21(1):124. doi: 10.1186/s12881-020-01054-6. BMC Med Genet. 2020. PMID: 32503528 Free PMC article.

9

Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.

Engelbrecht C, Urban M, Schoeman M, Paarwater B, van Coller A, Abraham DR, Cornelissen H, Glashoff R, Esser M, Möller M, Kinnear C, Glanzmann B. Engelbrecht C, et al. Front Immunol. 2021 May 21;12:665621. doi: 10.3389/fimmu.2021.665621. eCollection 2021. Front Immunol. 2021. PMID: 34093558 Free PMC article.

10

Utility of genetic testing in children with developmental and epileptic encephalopathy (DEE) at a tertiary hospital in South Africa: A prospective study.

Essajee F, Urban M, Smit L, Wilmshurst JM, Solomons R, van Toorn R, Moosa S. Essajee F, et al. Seizure. 2022 Oct;101:197-204. doi: 10.1016/j.seizure.2022.09.001. Epub 2022 Sep 2. Seizure. 2022. PMID: 36084525 Free article.

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

37 results

Search Page