Literature DB >> 21304560

Clinical utility gene card for: Gorlin syndrome.

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

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Year:  2011        PMID： 21304560      PMCID： PMC3172938          DOI： 10.1038/ejhg.2011.9

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


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  17 in total

1.  Identification of a SUFU germline mutation in a family with Gorlin syndrome.

Authors:  L Pastorino; P Ghiorzo; S Nasti; L Battistuzzi; R Cusano; C Marzocchi; M L Garrè; M Clementi; G Bianchi Scarrà
Journal:  Am J Med Genet A       Date:  2009-07       Impact factor: 2.802

Review 2.  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

3.  A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.

Authors:  Z Fan; J Li; J Du; H Zhang; Y Shen; C-Y Wang; S Wang
Journal:  J Med Genet       Date:  2008-02-19       Impact factor: 6.318

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.  Multiple basal cell naevus syndrome in ancient Egypt.

Authors:  M I Satinoff; C Wells
Journal:  Med Hist       Date:  1969-07       Impact factor: 1.419
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  2 in total

1.  Vismodegib as First-Line Treatment of Mutated Sonic Hedgehog Pathway in Adult Medulloblastoma.

Authors:  Waleed Kian; Laila C Roisman; Iris M Goldstein; Abed Abo-Quider; Benzion Samueli; Nadav Wallach; Farouq Alguayn; Walid Shalata; Dina Levitas; Olga Belochitski; Daniel Levin; Eyal Fenig; Konstantin Lavrenkov; Margarita Tokar; Nir Peled; Alexander Yakobson
Journal:  JCO Precis Oncol       Date:  2020-04-30

2.  Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome.

Authors:  Lorenza Pastorino; Annamaria Pollio; Giovanni Pellacani; Carmelo Guarneri; Paola Ghiorzo; Caterina Longo; William Bruno; Francesca Giusti; Sara Bassoli; Giovanna Bianchi-Scarrà; Cristel Ruini; Stefania Seidenari; Aldo Tomasi; Giovanni Ponti
Journal:  PLoS One       Date:  2012-08-27       Impact factor: 3.240
  2 in total

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