Literature DB >> 1347096

Location of gene for Gorlin syndrome.

P A Farndon1, R G Del Mastro, D G Evans, M W Kilpatrick.   

Abstract

The Gorlin (naevoid-basal-cell-carcinoma) syndrome is an autosomal dominant disorder characterised by multiple naevoid basal-cell carcinomas, recurrent odontogenic keratocysts, skeletal anomalies, intracranial calcification, and developmental malformations. Characterisation of the gene that causes the syndrome may improve our understanding of the pathogenesis of other basal-cell carcinomas. By linkage analysis, we have shown that the gene is located on chromosome 9q22.3-q31; the most likely position is between DNA markers D9S12 and D9S53. Location of the gene for Gorlin syndrome offers the possibility that DNA markers can be used in risk estimation and presymptomatic identification of patients for surveillance.

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Year:  1992        PMID: 1347096     DOI: 10.1016/0140-6736(92)90868-4

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


  71 in total

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3.  [Calcification of the falx cerebri. A pathognomonic symptom of Gorlin-Goltz syndrome].

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4.  Long-term Response to Vismodegib in a Patient with Gorlin-Goltz Syndrome: A Case Report and Review of Pathological Mechanisms Involved.

Authors:  Meghana Kesireddy; Vincent L Mendiola; Bagi Jana; Shrestha Patel
Journal:  Cureus       Date:  2019-08-13

5.  Clinical utility gene card for: Gorlin syndrome.

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6.  Early diagnosis of Gorlin-Goltz syndrome: case report.

Authors:  Ana R Casaroto; Daniela C N Rocha Loures; Eduardo Moreschi; Vanessa C Veltrini; Cleverson L Trento; Vilmar D Gottardo; Vanessa S Lara
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7.  Two modifications in the treatment of keratocystic odontogenic tumors (KCOT) and the use of Carnoy's solution (CS)--a retrospective study lasting between 2 and 10 years.

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Review 8.  Medulloblastoma: molecular genetics and animal models.

Authors:  Corey Raffel
Journal:  Neoplasia       Date:  2004 Jul-Aug       Impact factor: 5.715

9.  Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.

Authors:  D G Evans; E J Ladusans; S Rimmer; L D Burnell; N Thakker; P A Farndon
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

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Authors:  Renae C Streblow; Alicia J Dafferner; Marilu Nelson; Mavis Fletcher; William W West; Rachel K Stevens; Zoran Gatalica; Deborah Novak; Julia A Bridge
Journal:  Cancer Genet Cytogenet       Date:  2007-10-15
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