BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

152 related articles for article (PubMed ID: 12966526)

  • 1. Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.
    Hummel M; Cunningham D; Mullett CJ; Kelley RI; Herman GE
    Am J Med Genet A; 2003 Oct; 122A(3):246-51. PubMed ID: 12966526
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene.
    Danarti R; Grzeschik KH; Radiono S; König A; Happle R
    Eur J Dermatol; 2010; 20(5):634-5. PubMed ID: 20605772
    [No Abstract]   [Full Text] [Related]  

  • 3. Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome.
    Schmidt-Sidor B; Obersztyn E; Szymańska K; Wychowski J; Mierzewska H; Wierzba-Bobrowicz T; Stepień T
    Folia Neuropathol; 2008; 46(3):232-7. PubMed ID: 18825599
    [TBL] [Abstract][Full Text] [Related]  

  • 4. CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene.
    Kim CA; Konig A; Bertola DR; Albano LM; Gattás GJ; Bornholdt D; Leveleki L; Happle R; Grzeschik KH
    Dermatology; 2005; 211(2):155-8. PubMed ID: 16088165
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.
    König A; Happle R; Fink-Puches R; Soyer HP; Bornholdt D; Engel H; Grzeschik KH
    J Am Acad Dermatol; 2002 Apr; 46(4):594-6. PubMed ID: 11907515
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report.
    Hettiarachchi D; Panchal H; Lai PS; Dissanayake VHW
    BMC Med Genet; 2020 Aug; 21(1):164. PubMed ID: 32819291
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
    König A; Happle R; Bornholdt D; Engel H; Grzeschik KH
    Am J Med Genet; 2000 Feb; 90(4):339-46. PubMed ID: 10710235
    [TBL] [Abstract][Full Text] [Related]  

  • 8. CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol.
    Yu X; Zhang J; Gu Y; Deng D; Wu Z; Bao L; Li M; Yao Z
    J Eur Acad Dermatol Venereol; 2018 Jul; 32(7):1209-1213. PubMed ID: 29341259
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome.
    Seeger MA; Paller AS
    Biochim Biophys Acta; 2014 Mar; 1841(3):345-52. PubMed ID: 24060582
    [TBL] [Abstract][Full Text] [Related]  

  • 10. CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis.
    Gantner S; Rütten A; Requena L; Gassenmaier G; Landthaler M; Hafner C
    J Cutan Pathol; 2014 Oct; 41(10):787-90. PubMed ID: 25093865
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Advance in research on congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome].
    Jing F; Yang D; Chen T; Liang L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Dec; 33(6):878-882. PubMed ID: 27984627
    [TBL] [Abstract][Full Text] [Related]  

  • 12.
    Christen M; Austel M; Banovic F; Jagannathan V; Leeb T
    Genes (Basel); 2020 Oct; 11(11):. PubMed ID: 33143176
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
    Preiksaitiene E; Caro A; Benušienė E; Oltra S; Orellana C; Morkūnienė A; Roselló MP; Kasnauskiene J; Monfort S; Kučinskas V; Mayo S; Martinez F
    Am J Med Genet A; 2015 Jun; 167(6):1342-8. PubMed ID: 25900314
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole-exome sequencing: A rare case report and literature review.
    Zhuang J; Luo Q; Xie M; Chen Y; Jiang Y; Zeng S; Wang Y; Xie Y; Chen C
    Mol Genet Genomic Med; 2023 Mar; 11(3):e2121. PubMed ID: 36504312
    [TBL] [Abstract][Full Text] [Related]  

  • 15. CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.
    Mi XB; Luo MX; Guo LL; Zhang TD; Qiu XW
    Pediatr Dermatol; 2015; 32(6):e277-82. PubMed ID: 26459993
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma.
    Getz GI; Parag-Sharma K; Reside J; Padilla RJ; Amelio AL
    Oral Surg Oral Med Oral Pathol Oral Radiol; 2019 Jul; 128(1):60-69. PubMed ID: 31078502
    [TBL] [Abstract][Full Text] [Related]  

  • 17. CHILD syndrome with minimal limb abnormalities.
    Noguera-Morel L; Hernández-Ostiz S; Casas-Fernández L; Hernández-Martín A; Rodríguez-Blanco I; Requena L; Hotz A; Fischer J; Torrelo A
    J Eur Acad Dermatol Venereol; 2016 Dec; 30(12):e201-e202. PubMed ID: 26611379
    [No Abstract]   [Full Text] [Related]  

  • 18. Novel
    Maceda EBG; Kratz LE; Ramos VME; Abacan MAR
    BMJ Case Rep; 2020 Nov; 13(11):. PubMed ID: 33139364
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Expression profile of NSDHL in human peripheral tissues.
    Morimoto M; Souich Cd; Trinh J; McLarren KW; Boerkoel CF; Hendson G
    J Mol Histol; 2012 Feb; 43(1):95-106. PubMed ID: 22113624
    [TBL] [Abstract][Full Text] [Related]  

  • 20. NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.
    Caldas H; Herman GE
    Hum Mol Genet; 2003 Nov; 12(22):2981-91. PubMed ID: 14506130
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.