Literature DB >> 33864364

Prevalence of medulloblastoma in basal cell nevus syndrome patients with a PTCH1 mutation.

Babette J A Verkouteren1,2, Betül Cosgun1,2, R Jeroen Vermeulen3, Marie G H C Reinders1,2, Michel van Geel1,2,4, Johan J P Gille5, Klara Mosterd1,2.   

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Year:  2021        PMID： 33864364      PMCID： PMC8168812          DOI： 10.1093/neuonc/noab048

Source DB:  PubMed          Journal:  Neuro Oncol        ISSN： 1522-8517            Impact factor:   12.300


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  6 in total

1.  Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS).

Authors:  Alanna F Bree; Maulik R Shah
Journal:  Am J Med Genet A       Date:  2011-08-10       Impact factor: 2.802

2.  Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study.

Authors:  Betül Cosgun; Marie G H C Reinders; Michel van Geel; Peter M Steijlen; Antonius F W van Hout; Edward M Leter; Jasper J van der Smagt; Johanna M van Hagen; Lieke P V Berger; C Marleen Kets; Anja Wagner; Cora M Aalfs; Frederik J Hes; Lizet E van der Kolk; Johan J P Gille; Klara Mosterd
Journal:  J Am Acad Dermatol       Date:  2019-07-30       Impact factor: 11.527

Review 3.  Update on developmental anesthesia neurotoxicity.

Authors:  Laszlo Vutskits; Andrew Davidson
Journal:  Curr Opin Anaesthesiol       Date:  2017-06       Impact factor: 2.706

Review 4.  Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome.

Authors:  William D Foulkes; Junne Kamihara; D Gareth R Evans; Laurence Brugières; Franck Bourdeaut; Jan J Molenaar; Michael F Walsh; Garrett M Brodeur; Lisa Diller
Journal:  Clin Cancer Res       Date:  2017-06-15       Impact factor: 12.531

5.  First evidence of genotype-phenotype correlations in Gorlin syndrome.

Authors:  D Gareth Evans; Deemesh Oudit; Miriam J Smith; David Rutkowski; Ernest Allan; William G Newman; John T Lear
Journal:  J Med Genet       Date:  2017-06-08       Impact factor: 6.318

6.  Germline Elongator mutations in Sonic Hedgehog medulloblastoma.

Authors:  Sebastian M Waszak; Giles W Robinson; Brian L Gudenas; Kyle S Smith; Antoine Forget; Marija Kojic; Jesus Garcia-Lopez; Jennifer Hadley; Kayla V Hamilton; Emilie Indersie; Ivo Buchhalter; Jules Kerssemakers; Natalie Jäger; Tanvi Sharma; Tobias Rausch; Marcel Kool; Dominik Sturm; David T W Jones; Aksana Vasilyeva; Ruth G Tatevossian; Geoffrey Neale; Bérangère Lombard; Damarys Loew; Joy Nakitandwe; Michael Rusch; Daniel C Bowers; Anne Bendel; Sonia Partap; Murali Chintagumpala; John Crawford; Nicholas G Gottardo; Amy Smith; Christelle Dufour; Stefan Rutkowski; Tone Eggen; Finn Wesenberg; Kristina Kjaerheim; Maria Feychting; Birgitta Lannering; Joachim Schüz; Christoffer Johansen; Tina V Andersen; Martin Röösli; Claudia E Kuehni; Michael Grotzer; Marc Remke; Stéphanie Puget; Kristian W Pajtler; Till Milde; Olaf Witt; Marina Ryzhova; Andrey Korshunov; Brent A Orr; David W Ellison; Laurence Brugieres; Peter Lichter; Kim E Nichols; Amar Gajjar; Brandon J Wainwright; Olivier Ayrault; Jan O Korbel; Paul A Northcott; Stefan M Pfister
Journal:  Nature       Date:  2020-04-01       Impact factor: 49.962
  6 in total
  2 in total

1.  A guideline for the clinical management of basal cell naevus syndrome (Gorlin-Goltz syndrome).

Authors:  B J A Verkouteren; B Cosgun; M G H C Reinders; P A W K Kessler; R J Vermeulen; M Klaassens; S Lambrechts; J R van Rheenen; M van Geel; M Vreeburg; K Mosterd
Journal:  Br J Dermatol       Date:  2021-11-08       Impact factor: 11.113

Review 2.  Genodermatoses - Opportunities for Early Detection and Cancer Prevention.

Authors:  Helena Carley; Anjana Kulkarni
Journal:  Curr Genet Med Rep       Date:  2022-10-04
  2 in total

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