Colman MA - Search Results

1

Mapping the human CAS2 gene, the homologue of the mouse brown (b) locus, to human chromosome 9p22-pter.

Chintamaneni CD, Ramsay M, Colman MA, Fox MF, Pickard RT, Kwon BS. Chintamaneni CD, et al. Among authors: colman ma. Biochem Biophys Res Commun. 1991 Jul 15;178(1):227-35. doi: 10.1016/0006-291x(91)91803-k. Biochem Biophys Res Commun. 1991. PMID: 1906272

2

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

3

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.

4

A two allele XbaI RFLP at the catalase 2 locus.

Colman MA, Shibahara S, Kwon B, Jenkins T, Ramsay M. Colman MA, et al. Nucleic Acids Res. 1991 Feb 25;19(4):960. doi: 10.1093/nar/19.4.960-a. Nucleic Acids Res. 1991. PMID: 1673236 Free PMC article.

5

A third TaqI allele is detected by the probe pTD3-21 (D15S10) in southern African chromosomes.

Colman MA, Segalo P, Ramsay M, Jenkins T. Colman MA, et al. Nucleic Acids Res. 1991 Sep 25;19(18):5097. doi: 10.1093/nar/19.18.5097. Nucleic Acids Res. 1991. PMID: 1681502 Free PMC article.

6

In quest of the tyrosinase-positive oculocutaneous albinism gene.

Jenkins T, Heim RA, Dunn DS, Zwane E, Colman MA, Ramsay M, Kromberg JG. Jenkins T, et al. Among authors: colman ma. Ophthalmic Paediatr Genet. 1990 Dec;11(4):251-4. doi: 10.3109/13816819009015710. Ophthalmic Paediatr Genet. 1990. PMID: 1982896

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

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

9

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.

10

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. 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.

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