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 *

109 related articles for article (PubMed ID: 27697305)

  • 1. Early cardiac involvement in an infantile Sandhoff disease case with novel mutations.
    Lee HF; Chi CS; Tsai CR
    Brain Dev; 2017 Feb; 39(2):171-176. PubMed ID: 27697305
    [TBL] [Abstract][Full Text] [Related]  

  • 2. GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
    Gort L; de Olano N; Macías-Vidal J; Coll MA;
    Gene; 2012 Sep; 506(1):25-30. PubMed ID: 22789865
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Clinical and molecular characteristics of a child with juvenile Sandhoff disease].
    Huang Y; Xie T; Zheng J; Zhao X; Liu H; Liu L
    Zhonghua Er Ke Za Zhi; 2014 Apr; 52(4):313-6. PubMed ID: 24915922
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.
    Tavasoli AR; Parvaneh N; Ashrafi MR; Rezaei Z; Zschocke J; Rostami P
    Orphanet J Rare Dis; 2018 Aug; 13(1):130. PubMed ID: 30075786
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.
    Tim-Aroon T; Wichajarn K; Katanyuwong K; Tanpaiboon P; Vatanavicharn N; Sakpichaisakul K; Kongkrapan A; Eu-Ahsunthornwattana J; Thongpradit S; Moolsuwan K; Satproedprai N; Mahasirimongkol S; Lerksuthirat T; Suktitipat B; Jinawath N; Wattanasirichaigoon D
    BMC Pediatr; 2021 Jan; 21(1):22. PubMed ID: 33407268
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
    Gaignard P; Fagart J; Niemir N; Puech JP; Azouguene E; Dussau J; Caillaud C
    Gene; 2013 Jan; 512(2):521-6. PubMed ID: 23046579
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [HEXB gene study and prenatal diagnosis for a family affected by infantile Sandhoff disease].
    Wu T; Li X; Wang Q; Liu Y; Ding Y; Song J; Zhang Y; Yang Y
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2013 Jul; 42(4):403-10. PubMed ID: 24022928
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene.
    Wang P; Henthorn PS; Galban E; Lin G; Takedai T; Casal M
    J Vet Intern Med; 2018 Jan; 32(1):340-347. PubMed ID: 29106755
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease.
    Ahn SW; Kim SH; Hong YH; Lee KW; Sung JJ
    Neurol India; 2010; 58(6):950-1. PubMed ID: 21150067
    [No Abstract]   [Full Text] [Related]  

  • 10. [Lysosome disease--Sandhoff disease].
    Eguchi I; Wakamatsu N; Nakano R; Tsuji S
    Nihon Rinsho; 1993 Sep; 51(9):2276-80. PubMed ID: 8411702
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A case report of Sandhoff disease.
    Saouab R; Mahi M; Abilkacem R; Boumdin H; Chaouir S; Agader O; Amil T; Hanine A
    Clin Neuroradiol; 2011 Jun; 21(2):83-5. PubMed ID: 21153386
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype.
    Yoshizawa T; Kohno Y; Nissato S; Shoji S
    J Neurol Sci; 2002 Mar; 195(2):129-38. PubMed ID: 11897243
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature.
    Liu M; Huang D; Wang H; Zhao L; Wang Q; Chen X
    J Mol Neurosci; 2020 Apr; 70(4):481-487. PubMed ID: 31919734
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats.
    Kanae Y; Endoh D; Yamato O; Hayashi D; Matsunaga S; Ogawa H; Maede Y; Hayashi M
    Res Vet Sci; 2007 Feb; 82(1):54-60. PubMed ID: 16872651
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.
    Neote K; McInnes B; Mahuran DJ; Gravel RA
    J Clin Invest; 1990 Nov; 86(5):1524-31. PubMed ID: 2147027
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection.
    Kleiman FE; de Kremer RD; de Ramirez AO; Gravel RA; Argaraña CE
    Hum Genet; 1994 Sep; 94(3):279-82. PubMed ID: 8076944
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease).
    Rahman MM; Chang HS; Mizukami K; Hossain MA; Yabuki A; Tamura S; Kitagawa M; Mitani S; Higo T; Uddin MM; Uchida K; Yamato O
    Vet J; 2012 Dec; 194(3):412-6. PubMed ID: 22766310
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease.
    Furihata K; Drousiotou A; Hara Y; Christopoulos G; Stylianidou G; Anastasiadou V; Ueno I; Ioannou P
    Hum Mutat; 1999; 13(1):38-43. PubMed ID: 9888387
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.
    Zhang W; Zeng H; Huang Y; Xie T; Zheng J; Zhao X; Sheng H; Liu H; Liu L
    Metab Brain Dis; 2016 Aug; 31(4):861-7. PubMed ID: 27021291
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Suppression of NK and CD8
    White EJ; Trigatti BL; Igdoura SA
    J Neuroimmunol; 2017 May; 306():55-67. PubMed ID: 28385189
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.