Literature DB >> 11358352

Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making.

M Filocamo1, G Bonuccelli, R Mazzotti, F Corsolini, M Stroppiano, S Regis, R Gatti.   

Abstract

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Year:  2000        PMID： 11358352     DOI： 10.1006/bcmd.2000.0341

Source DB:  PubMed          Journal:  Blood Cells Mol Dis        ISSN： 1079-9796            Impact factor:   3.039


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  4 in total

1.  Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.

Authors:  Shahzeb Hassan; Grisel Lopez; Barbara K Stubblefield; Nahid Tayebi; Ellen Sidransky
Journal:  Mol Genet Metab       Date:  2018-06-28       Impact factor: 4.797

Review 2.  Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.

Authors:  Emily C Daykin; Emory Ryan; Ellen Sidransky
Journal:  Mol Genet Metab       Date:  2021-01-09       Impact factor: 4.797

Review 3.  Lysosomal storage disorders: molecular basis and laboratory testing.

Authors:  Mirella Filocamo; Amelia Morrone
Journal:  Hum Genomics       Date:  2011-03       Impact factor: 4.639

4.  Functional analysis of 11 novel GBA alleles.

Authors:  Erika Malini; Serena Grossi; Marta Deganuto; Camillo Rosano; Rossella Parini; Silvia Dominisini; Roberta Cariati; Stefania Zampieri; Bruno Bembi; Mirella Filocamo; Andrea Dardis
Journal:  Eur J Hum Genet       Date:  2013-09-11       Impact factor: 4.246
  4 in total

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