Literature DB >> 18347322

Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3.

W S Benko1, K S Hruska, N Nagan, O Goker-Alpan, P S Hart, R Schiffmann, E Sidransky.   

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Year:  2008        PMID： 18347322      PMCID： PMC4617237          DOI： 10.1212/01.wnl.0000305963.37449.32

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  5 in total

1.  Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.

Authors:  Dieter Kotzot; Gerd Utermann
Journal:  Am J Med Genet A       Date:  2005-07-30       Impact factor: 2.802

2.  The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

Authors:  P De Jonghe; V Timmerman; C Ceuterick; E Nelis; E De Vriendt; A Löfgren; A Vercruyssen; C Verellen; L Van Maldergem; J J Martin; C Van Broeckhoven
Journal:  Brain       Date:  1999-02       Impact factor: 13.501

3.  A new genetic concept: uniparental disomy and its potential effect, isodisomy.

Authors:  E Engel
Journal:  Am J Med Genet       Date:  1980

Review 4.  Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.

Authors:  E Nelis; N Haites; C Van Broeckhoven
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

5.  Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

Authors:  K Silander; P Meretoja; V Juvonen; J Ignatius; H Pihko; A Saarinen; T Wallden; E Herrgård; P Aula; M L Savontaus
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878
  5 in total
  7 in total

1.  Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.

Authors:  Irini Manoli; Gretchen Golas; Wendy Westbroek; Thierry Vilboux; Thomas C Markello; Wendy Introne; Dawn Maynard; Ben Pederson; Ekaterini Tsilou; Michael B Jordan; P Suzanne Hart; James G White; William A Gahl; Marjan Huizing
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

Review 2.  The clinical management of Type 2 Gaucher disease.

Authors:  Karin Weiss; Ashley Gonzalez; Grisel Lopez; Leah Pedoeim; Catherine Groden; Ellen Sidransky
Journal:  Mol Genet Metab       Date:  2014-11-14       Impact factor: 4.797

3.  HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.

Authors:  Dana Šafka Brožková; Jaroslava Paulasová Schwabová; Jana Neupauerová; Jana Sabová; Marcela Krůtová; Vladimír Peřina; Marie Trková; Petra Laššuthová; Pavel Seeman
Journal:  J Hum Genet       Date:  2016-12-22       Impact factor: 3.172

4.  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

5.  Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.

Authors:  Ermias Hagege; Richard J Grey; Grisel Lopez; Tamanna Roshan Lal; Ellen Sidransky; Nahid Tayebi
Journal:  Am J Med Genet A       Date:  2017-11-01       Impact factor: 2.802

Review 6.  Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.

Authors:  Jessica E King; Amy Dexter; Inder Gadi; Val Zvereff; Meaghan Martin; Miriam Bloom; Adeline Vanderver; Amy Pizzino; Johanna L Schmidt
Journal:  J Genet Couns       Date:  2014-04-30       Impact factor: 2.537

Review 7.  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
  7 in total

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