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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1992 | 1 |
2005 | 2 |
2014 | 1 |
2020 | 1 |
2024 | 0 |
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5 results
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Page 1
Darier's disease in Singapore.
Br J Dermatol. 2005 Feb;152(2):284-8. doi: 10.1111/j.1365-2133.2004.06364.x.
Br J Dermatol. 2005.
PMID: 15727640
Cowden syndrome is a risk factor for multiple neoplasm: a case report.
Miguelote S, Silva R, Fougo JL, Barbosa LE, Araújo Teixeira JP.
Miguelote S, et al.
World J Surg Oncol. 2020 Aug 17;18(1):211. doi: 10.1186/s12957-020-01971-z.
World J Surg Oncol. 2020.
PMID: 32807196
Free PMC article.
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The phenotype of Darier's disease: penetrance and expressivity in adults and children.
Munro CS.
Munro CS.
Br J Dermatol. 1992 Aug;127(2):126-30. doi: 10.1111/j.1365-2133.1992.tb08044.x.
Br J Dermatol. 1992.
PMID: 1390140
Forty-two cases were known to dermatologists, and 33 were identified in the course of the study: 60 were adults (above the age of 20) and 15 were children. ...
Forty-two cases were known to dermatologists, and 33 were identified in the course of the study: 60 were adults (above the age of 20) …
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Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.
Klein RD, Dykas DJ, Bale AE.
Klein RD, et al.
Genet Med. 2005 Nov-Dec;7(9):611-9. doi: 10.1097/01.gim.0000182879.57182.b4.
Genet Med. 2005.
PMID: 16301862
Free article.
PURPOSE: This study determines which clinical features predict positive test results among samples submitted for DNA-based diagnostic nevoid basal cell carcinoma syndrome (NBCCS) testing, and further defines the mutational spectrum of the PTCH gene. ...
PURPOSE: This study determines which clinical features predict positive test results among samples submitted for DNA-based diagnostic …
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Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation.
Rodrigues AL, Carvalho A, Cabral R, Carneiro V, Gilardi P, Duarte CP, Puente-Prieto J, Santos P, Mota-Vieira L.
Rodrigues AL, et al.
Genet Mol Res. 2014 Jul 25;13(3):5654-63. doi: 10.4238/2014.July.25.21.
Genet Mol Res. 2014.
PMID: 25117323
Free article.
This mutation generated a frameshift within exon 2 and an early premature stop codon (p.Asn97LysfsX43), predicting a truncated protein with complete loss of function. Identification of this mutation is useful for genetic counseling. Although the clinical symptoms are well- …
This mutation generated a frameshift within exon 2 and an early premature stop codon (p.Asn97LysfsX43), predicting a truncated protei …
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