Urban M - Search Results

1

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. Among authors: urban m. 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.

2

Fibrodysplasia ossificans progressiva (FOP) in South Africa: dental implications in 5 cases.

Roberts T, Stephen L, Scott C, Urban M, Sudi S, Beighton P. Roberts T, et al. Among authors: urban m. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2011 Jul;112(1):11-8. doi: 10.1016/j.tripleo.2011.03.015. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2011. PMID: 21669362

3

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

4

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. Among authors: urban m. Seizure. 2022 Oct;101:197-204. doi: 10.1016/j.seizure.2022.09.001. Epub 2022 Sep 2. Seizure. 2022. PMID: 36084525 Free article.

5

A 5-Year Retrospective Review of the Health Supervision Received by Children with Down Syndrome at a South African Regional Hospital.

Schoonraad L, Slogrove A, Engelbrecht A, Urban MF. Schoonraad L, et al. J Trop Pediatr. 2020 Aug 1;66(4):441-447. doi: 10.1093/tropej/fmz087. J Trop Pediatr. 2020. PMID: 31943102

6

Implementation of a breast cancer genetic service in South Africa - lessons learned.

Schoeman M, Apffelstaedt JP, Baatjes K, Urban M. Schoeman M, et al. Among authors: urban m. S Afr Med J. 2013 Jun 25;103(8):529-33. doi: 10.7196/samj.6814. S Afr Med J. 2013. PMID: 23885733

7

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. Among authors: urban m. 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.

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. Among authors: urban m. 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

Which side are they on? Diagnosing primary ciliary dyskinesias in low- or middle-income countries: A review and case series.

Surdut SP, van der Merwe E, Goussard P, Urban MF. Surdut SP, et al. Among authors: urban mf. Afr J Thorac Crit Care Med. 2023 Sep 19;29(3):10.7196/AJTCCM.2023.v29i3.425. doi: 10.7196/AJTCCM.2023.v29i3.425. eCollection 2023. Afr J Thorac Crit Care Med. 2023. PMID: 38028243 Free PMC article. Review.

10

Effectiveness of prenatal screening for Down syndrome on the basis of maternal age in Cape Town.

Urban MF, Stewart C, Ruppelt T, Geerts L. Urban MF, et al. S Afr Med J. 2011 Jan;101(1):45-8. doi: 10.7196/samj.4188. S Afr Med J. 2011. PMID: 21626982 Free article.

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