Literature DB >> 23361221

Clinical utility gene card for: Gorlin syndrome--update 2013.

Lorenzo Lo Muzio1, Lorenza Pastorino, Sonja Levanat, Vesna Musani, Mima Situm, Giovanni Ponti, Giovanna Bianchi Scarra.   

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Year:  2013        PMID： 23361221      PMCID： PMC3778338          DOI： 10.1038/ejhg.2012.299

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  20 in total

Review 1.  Nevoid basal cell carcinoma syndrome: review of 118 affected individuals.

Authors:  S Shanley; J Ratcliffe; A Hockey; E Haan; C Oley; D Ravine; N Martin; C Wicking; G Chenevix-Trench
Journal:  Am J Med Genet       Date:  1994-04-15

2.  Early diagnosis of nevoid basal cell carcinoma syndrome.

Authors:  L Lo Muzio; P Nocini; P Bucci; G Pannone; U Consolo; M Procaccini
Journal:  J Am Dent Assoc       Date:  1999-05       Impact factor: 3.634

3.  Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals.

Authors:  L Lo Muzio; P F Nocini; A Savoia; U Consolo; M Procaccini; L Zelante; G Pannone; P Bucci; M Dolci; F Bambini; P Solda; G Favia
Journal:  Clin Genet       Date:  1999-01       Impact factor: 4.438

4.  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

5.  Brain tumours and the occurrence of severe invasive basal cell carcinoma in first degree relatives with Gorlin syndrome.

Authors:  D G Evans; J M Birch; C I Orton
Journal:  Br J Neurosurg       Date:  1991       Impact factor: 1.596

6.  Nevoid basal cell carcinoma syndrome. A 15-year follow-up of cases in Ottawa and the Ottawa Valley.

Authors:  M D Pratt; R Jackson
Journal:  J Am Acad Dermatol       Date:  1987-05       Impact factor: 11.527

7.  Location of gene for Gorlin syndrome.

Authors:  P A Farndon; R G Del Mastro; D G Evans; M W Kilpatrick
Journal:  Lancet       Date:  1992-03-07       Impact factor: 79.321

8.  Nevoid basal cell carcinoma syndrome: a retrospective analysis of 33 affected Korean individuals.

Authors:  S-G Ahn; Y-S Lim; D-K Kim; S-G Kim; S-H Lee; J-H Yoon
Journal:  Int J Oral Maxillofac Surg       Date:  2004-07       Impact factor: 2.789

9.  Basal cell epithelioma (carcinoma) in children and teenagers.

Authors:  H Rahbari; A H Mehregan
Journal:  Cancer       Date:  1982-01-15       Impact factor: 6.860

10.  Ameloblastoma: a neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome.

Authors:  Giovanni Ponti; Lorenza Pastorino; Annamaria Pollio; Sabina Nasti; Giovanni Pellacani; Michele D Mignogna; Aldo Tomasi; Corrado Del Forno; Caterina Longo; Giovanna Bianchi-Scarrà; Guido Ficarra; Stefania Seidenari
Journal:  Fam Cancer       Date:  2012-09       Impact factor: 2.375
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  5 in total

Review 1.  Signs and genetics of rare cancer syndromes with gastroenterological features.

Authors:  William Bruno; Giuseppe Fornarini; Paola Ghiorzo
Journal:  World J Gastroenterol       Date:  2015-08-14       Impact factor: 5.742

2.  Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture and treatment.

Authors:  Henryk Witmanowski; Paweł Szychta; Katarzyna Błochowiak; Arkadiusz Jundziłł; Rafał Czajkowski
Journal:  Postepy Dermatol Alergol       Date:  2017-08-02       Impact factor: 1.837

3.  Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia.

Authors:  Vesna Musani; Petar Ozretić; Diana Trnski; Maja Sabol; Sanja Poduje; Mateja Tošić; Mirna Šitum; Sonja Levanat
Journal:  Croat Med J       Date:  2018-02-28       Impact factor: 1.351

4.  Global gene expression of histologically normal primary skin cells from BCNS subjects reveals "single-hit" effects that are influenced by rapamycin.

Authors:  Amruta Phatak; Mohammad Athar; James A Crowell; David Leffel; Brittney-Shea Herbert; Allen E Bale; Levy Kopelovich
Journal:  Oncotarget       Date:  2019-02-15

5.  Genomic profiling of late-onset basal cell carcinomas from two brothers with nevoid basal cell carcinoma syndrome.

Authors:  O Hasan Ali; A A Yurchenko; O Pavlova; A Sartori; D Bomze; R Higgins; S S Ring; F Hartmann; D Bühler; F R Fritzsche; W Jochum; A A Navarini; A Kim; L E French; E Dermitzakis; A M Christiano; D Hohl; D R Bickers; S I Nikolaev; L Flatz
Journal:  J Eur Acad Dermatol Venereol       Date:  2020-07-23       Impact factor: 6.166
  5 in total

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