Colman M - Search Results

1

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.

Colman M, Van Damme T, Steichen-Gersdorf E, Laccone F, Nampoothiri S, Syx D, Guillemyn B, Symoens S, Malfait F. Colman M, et al. Orphanet J Rare Dis. 2019 Jun 13;14(1):138. doi: 10.1186/s13023-019-1110-9. Orphanet J Rare Dis. 2019. PMID: 31196143 Free PMC article. Review.

2

Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome.

Colman M, Syx D, De Wandele I, Dhooge T, Symoens S, Malfait F. Colman M, et al. Hum Mutat. 2021 Oct;42(10):1294-1306. doi: 10.1002/humu.24258. Epub 2021 Jul 26. Hum Mutat. 2021. PMID: 34265140

3

Pain in the Ehlers-Danlos syndromes: Mechanisms, models, and challenges.

Malfait F, Colman M, Vroman R, De Wandele I, Rombaut L, Miller RE, Malfait AM, Syx D. Malfait F, et al. Among authors: colman m. Am J Med Genet C Semin Med Genet. 2021 Dec;187(4):429-445. doi: 10.1002/ajmg.c.31950. Epub 2021 Nov 19. Am J Med Genet C Semin Med Genet. 2021. PMID: 34797601 Review.

4

The Ehlers-Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism.

Van Damme T, Colman M, Syx D, Malfait F. Van Damme T, et al. Among authors: colman m. Genes (Basel). 2022 Jan 29;13(2):265. doi: 10.3390/genes13020265. Genes (Basel). 2022. PMID: 35205310 Free PMC article. Review.

5

Exploring pain mechanisms in hypermobile Ehlers-Danlos syndrome: A case-control study.

De Wandele I, Colman M, Hermans L, Van Oosterwijck J, Meeus M, Rombaut L, Brusselmans G, Syx D, Calders P, Malfait F. De Wandele I, et al. Among authors: colman m. Eur J Pain. 2022 Jul;26(6):1355-1367. doi: 10.1002/ejp.1956. Epub 2022 May 11. Eur J Pain. 2022. PMID: 35442549

6

Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.

Colman M, Castori M, Micale L, Ritelli M, Colombi M, Ghali N, Van Dijk F, Marsili L, Weeks A, Vandersteen A, Rideout A, Legrand A, Frank M, Mirault T, Ferraris A, Di Giosaffatte N, Grammatico P, Grunert J, Frank C, Symoens S, Syx D, Malfait F. Colman M, et al. Clin Exp Rheumatol. 2022 May;40 Suppl 134(5):46-62. doi: 10.55563/clinexprheumatol/kzkq6y. Epub 2022 May 18. Clin Exp Rheumatol. 2022. PMID: 35587586 Free article.

7

Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.

Colman M, Vroman R, Dhooge T, Malfait Z, Symoens S, Burnyté B, Nampoothiri S, Kariminejad A, Malfait F, Syx D. Colman M, et al. Hum Mutat. 2022 Dec;43(12):1994-2009. doi: 10.1002/humu.24456. Epub 2022 Sep 12. Hum Mutat. 2022. PMID: 36054293

8

Sensory Profiling in Classical Ehlers-Danlos Syndrome: A Case-Control Study Revealing Pain Characteristics, Somatosensory Changes, and Impaired Pain Modulation.

Colman M, Syx D, De Wandele I, Rombaut L, Wille D, Malfait Z, Meeus M, Malfait AM, Van Oosterwijck J, Malfait F. Colman M, et al. J Pain. 2023 Nov;24(11):2063-2078. doi: 10.1016/j.jpain.2023.06.015. Epub 2023 Jun 26. J Pain. 2023. PMID: 37380025

9

The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.

Ramsay M, Colman MA, Stevens G, Zwane E, Kromberg J, Farrall M, Jenkins T. Ramsay M, et al. Among authors: colman ma. Am J Hum Genet. 1992 Oct;51(4):879-84. Am J Hum Genet. 1992. PMID: 1415228 Free PMC article.

10

Exclusion of two candidate pigment loci, c and b, part of chromosome 11p, and 33 random polymorphic markers as the locus for tyrosinase-positive oculocutaneous albinism.

Colman MA, Stevens G, Ramsay M, Kwon B, Jenkins T. Colman MA, et al. Hum Genet. 1993 Jan;90(5):556-60. doi: 10.1007/BF00217458. Hum Genet. 1993. PMID: 8428754

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

290 results

Search Page