These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 10685993)

  • 1. Type 2 Gaucher disease: the collodion baby phenotype revisited.
    Stone DL; Carey WF; Christodoulou J; Sillence D; Nelson P; Callahan M; Tayebi N; Sidransky E
    Arch Dis Child Fetal Neonatal Ed; 2000 Mar; 82(2):F163-6. PubMed ID: 10685993
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
    Stone DL; Tayebi N; Orvisky E; Stubblefield B; Madike V; Sidransky E
    Hum Mutat; 2000; 15(2):181-8. PubMed ID: 10649495
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.
    Chabás A; Gort L; Díaz-Font A; Montfort M; Santamaría R; Cidrás M; Grinberg D; Vilageliu L
    Blood Cells Mol Dis; 2005; 35(2):253-8. PubMed ID: 15967693
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Congenital ichthyosis in severe type II Gaucher disease with a homozygous null mutation.
    Haverkaemper S; Marquardt T; Hausser I; Timme K; Kuehn T; Hertzberg C; Rossi R
    Neonatology; 2011; 100(2):194-7. PubMed ID: 21455010
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene.
    Sidransky E; Sherer DM; Ginns EI
    Pediatr Res; 1992 Oct; 32(4):494-8. PubMed ID: 1437405
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease.
    Fujimoto A; Tayebi N; Sidransky E
    Am J Med Genet; 1995 Nov; 59(3):356-8. PubMed ID: 8599361
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype.
    Aggarwal S; Jain SJ; Bhowmik AD; Tandon A; Dalal A
    Am J Med Genet A; 2015 Nov; 167A(11):2858-60. PubMed ID: 26172087
    [No Abstract]   [Full Text] [Related]  

  • 8. Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.
    Eblan MJ; Goker-Alpan O; Sidransky E
    Fetal Pediatr Pathol; 2005; 24(4-5):205-22. PubMed ID: 16396828
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.
    Reissner K; Tayebi N; Stubblefield BK; Koprivica V; Blitzer M; Holleran W; Cowan T; Almashanu S; Maddalena A; Karson EM; Sidransky E
    Mol Genet Metab; 1998 Apr; 63(4):281-8. PubMed ID: 9635296
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.
    Grace ME; Ashton-Prolla P; Pastores GM; Soni A; Desnick RJ
    J Clin Invest; 1999 Mar; 103(6):817-23. PubMed ID: 10079102
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
    Stone DL; van Diggelen OP; de Klerk JB; Gaillard JL; Niermeijer MF; Willemsen R; Tayebi N; Sidransky E
    Eur J Hum Genet; 1999; 7(4):505-9. PubMed ID: 10352942
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.
    Bulut FD; Kör D; Şeker-Yılmaz B; Hergüner Ö; Ceylaner S; Özkınay F; Kılavuz S; Önenli-Mungan N
    Metab Brain Dis; 2018 Aug; 33(4):1223-1227. PubMed ID: 29656334
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
    Choy FY; Zhang W; Shi HP; Zay A; Campbell T; Tang N; Ferreira P
    Blood Cells Mol Dis; 2007; 38(3):287-93. PubMed ID: 17196853
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses.
    Finn LS; Zhang M; Chen SH; Scott CR
    Am J Med Genet; 2000 Mar; 91(3):222-6. PubMed ID: 10756347
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Gaucher disease and parkinsonism: a phenotypic and genotypic characterization.
    Tayebi N; Callahan M; Madike V; Stubblefield BK; Orvisky E; Krasnewich D; Fillano JJ; Sidransky E
    Mol Genet Metab; 2001 Aug; 73(4):313-21. PubMed ID: 11509013
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.
    Sidransky E; Tayebi N; Stubblefield BK; Eliason W; Klineburgess A; Pizzolato GP; Cox JN; Porta J; Bottani A; DeLozier-Blanchet CD
    J Med Genet; 1996 Feb; 33(2):132-6. PubMed ID: 8929950
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease.
    Cormand B; Díaz A; Grinberg D; Chabás A; Vilageliu L
    Blood Cells Mol Dis; 2000 Oct; 26(5):409-16. PubMed ID: 11112377
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null Rec Nci I GBA mutations.
    Goebl A; Ferrier RA; Ferreira P; Pinto-Rojas A; Matshes E; Choy FY
    Pediatr Dev Pathol; 2011; 14(3):240-3. PubMed ID: 20946052
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.
    Tayebi N; Reissner KJ; Lau EK; Stubblefield BK; Klineburgess AC; Martin BM; Sidransky E
    Pediatr Res; 1998 May; 43(5):571-8. PubMed ID: 9585001
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
    Park JK; Orvisky E; Tayebi N; Kaneski C; Lamarca ME; Stubblefield BK; Martin BM; Schiffmann R; Sidransky E
    Pediatr Res; 2003 Mar; 53(3):387-95. PubMed ID: 12595585
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.