Colman SD - Search Results

1

Four frameshift mutations in neurofibromatosis type 1 caused by small insertions.

Colman SD, Abernathy CR, Ho VT, Wallace MR. Colman SD, et al. J Med Genet. 1997 Jul;34(7):579-81. doi: 10.1136/jmg.34.7.579. J Med Genet. 1997. PMID: 9222967 Free PMC article.

2

Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene.

Colman SD, Williams CA, Wallace MR. Colman SD, et al. Nat Genet. 1995 Sep;11(1):90-2. doi: 10.1038/ng0995-90. Nat Genet. 1995. PMID: 7550323

3

Neurofibromatosis type 1.

Colman SD, Wallace MR. Colman SD, et al. Eur J Cancer. 1994;30A(13):1974-81. doi: 10.1016/0959-8049(94)00389-m. Eur J Cancer. 1994. PMID: 7734210 Review. No abstract available.

4

A PCR-based test for a polymorphism within the human NF1 gene.

Abernathy C, Colman SD, Wallace MR. Abernathy C, et al. Among authors: colman sd. Clin Genet. 1994 Jun;45(6):313. doi: 10.1111/j.1399-0004.1994.tb04038.x. Clin Genet. 1994. PMID: 7923863 No abstract available.

5

Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene.

Abernathy CR, Colman SD, Kousseff BG, Wallace MR. Abernathy CR, et al. Among authors: colman sd. Hum Mutat. 1994;3(4):347-52. doi: 10.1002/humu.1380030404. Hum Mutat. 1994. PMID: 8081387

6

Characterization of a single base-pair deletion in neurofibromatosis type 1.

Colman SD, Collins FS, Wallace MR. Colman SD, et al. Hum Mol Genet. 1993 Oct;2(10):1709-11. doi: 10.1093/hmg/2.10.1709. Hum Mol Genet. 1993. PMID: 8268926

7

Somatic mosaicism in a patient with neurofibromatosis type 1.

Colman SD, Rasmussen SA, Ho VT, Abernathy CR, Wallace MR. Colman SD, et al. Am J Hum Genet. 1996 Mar;58(3):484-90. Am J Hum Genet. 1996. PMID: 8644707 Free PMC article.

8

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

Rasmussen SA, Colman SD, Ho VT, Abernathy CR, Arn PH, Weiss L, Schwartz C, Saul RA, Wallace MR. Rasmussen SA, et al. Among authors: colman sd. J Med Genet. 1998 Jun;35(6):468-71. doi: 10.1136/jmg.35.6.468. J Med Genet. 1998. PMID: 9643287 Free PMC article.

9

A multiplex-PCR test for EVI2A and EVI2B polymorphisms within the human NF1 gene.

Rasmussen SA, Ho VT, Colman SD, Abernathy CR, Wallace MR. Rasmussen SA, et al. Among authors: colman sd. Mamm Genome. 1996 Mar;7(3):233-4. doi: 10.1007/s003359900065. Mamm Genome. 1996. PMID: 8833251 No abstract available.

10

Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.

Barbosa MD, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, Pastural E, Dufourcq-Lagelouse R, Fischer A, Holcombe RF, Wallace MR, Brandt SJ, de Saint Basile G, Kingsmore SF. Barbosa MD, et al. Among authors: colman sd. Hum Mol Genet. 1997 Jul;6(7):1091-8. doi: 10.1093/hmg/6.7.1091. Hum Mol Genet. 1997. PMID: 9215680 Free PMC article.

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