Literature DB >> 10882758

Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense.

H Scheffer, P Van Der Vlies, M Burton, E Verlind, A C Moll, S M Imhof, C H Buys.   

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Year:  2000        PMID： 10882758      PMCID： PMC1734638          DOI： 10.1136/jmg.37.7.e6

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  10 in total

1.  Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.

Authors:  Kamil J Cygan; Rachel Soemedi; Christy L Rhine; Abraham Profeta; Eileen L Murphy; Michael F Murray; William G Fairbrother
Journal:  Hum Genet       Date:  2017-08-05       Impact factor: 4.132

Review 2.  Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Authors:  David N Cooper; Michael Krawczak; Constantin Polychronakos; Chris Tyler-Smith; Hildegard Kehrer-Sawatzki
Journal:  Hum Genet       Date:  2013-07-03       Impact factor: 4.132

3.  Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma.

Authors:  Valentina Imperatore; Anna Maria Pinto; Elisa Gelli; Eva Trevisson; Valeria Morbidoni; Elisa Frullanti; Theodora Hadjistilianou; Sonia De Francesco; Paolo Toti; Elena Gusson; Gaia Roversi; Andrea Accogli; Valeria Capra; Maria Antonietta Mencarelli; Alessandra Renieri; Francesca Ariani
Journal:  Eur J Hum Genet       Date:  2018-04-17       Impact factor: 4.246

4.  Singular Value Decomposition-based Alternative Splicing Detection.

Authors:  Jianhua Hu; Xuming He; Gilbert J Cote; Ralf Krahe
Journal:  J Am Stat Assoc       Date:  2009-09-01       Impact factor: 5.033

5.  Molecular-genetic analysis of two cases with retinoblastoma: benefits for disease management.

Authors:  Govindasamy Kumaramanickavel; Biju Joseph; Komaravelly Narayana; Sribhargava Natesh; Gandra Mamatha; Mahesh P Shanmugam; Anuradha Elamparathi; Jyotirmay Biswas
Journal:  J Genet       Date:  2003 Apr-Aug       Impact factor: 1.166

6.  RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases.

Authors:  Biju Joseph; Anuradha Srinivasan; Nagasamy Soumittra; Authiappan Vidhya; Nitin Sridhara Shetty; Satagopan Uthra; Govindasamy Kumaramanickavel
Journal:  J Genet       Date:  2002-04       Impact factor: 1.166

7.  Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.

Authors:  Katia Sampieri; Theodora Hadjistilianou; Francesca Mari; Caterina Speciale; Maria Antonietta Mencarelli; Francesco Cetta; Siranoush Manoukian; Bernard Peissel; Daniela Giachino; Barbara Pasini; Antonio Acquaviva; Aldo Caporossi; Renato Frezzotti; Alessandra Renieri; Mirella Bruttini
Journal:  J Hum Genet       Date:  2006-02-04       Impact factor: 3.172

8.  Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.

Authors:  R Caselli; C Speciale; C Pescucci; V Uliana; K Sampieri; M Bruttini; I Longo; S De Francesco; T Pramparo; O Zuffardi; R Frezzotti; A Acquaviva; T Hadjistilianou; A Renieri; F Mari
Journal:  J Hum Genet       Date:  2007-05-15       Impact factor: 3.172

9.  RB1 mutations and second primary malignancies after hereditary retinoblastoma.

Authors:  Charlotte J Dommering; Tamara Marees; Annemarie H van der Hout; Saskia M Imhof; Hanne Meijers-Heijboer; Peter J Ringens; Flora E van Leeuwen; Annette C Moll
Journal:  Fam Cancer       Date:  2012-06       Impact factor: 2.375

10.  A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.

Authors:  Philippine Eloy; Catherine Dehainault; Meriem Sefta; Isabelle Aerts; François Doz; Nathalie Cassoux; Livia Lumbroso le Rouic; Dominique Stoppa-Lyonnet; François Radvanyi; Gaël A Millot; Marion Gauthier-Villars; Claude Houdayer
Journal:  PLoS Genet       Date:  2016-02-29       Impact factor: 5.917
  10 in total

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