BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 31571289)

  • 1. A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi.
    Leuthard F; Lehner G; Jagannathan V; Leeb T; Welle M
    Anim Genet; 2019 Dec; 50(6):768-771. PubMed ID: 31571289
    [TBL] [Abstract][Full Text] [Related]  

  • 2.
    Christen M; Austel M; Banovic F; Jagannathan V; Leeb T
    Genes (Basel); 2020 Oct; 11(11):. PubMed ID: 33143176
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genetic variant in the NSDHL gene in a cat with multiple congenital lesions resembling inflammatory linear verrucous epidermal nevi.
    De Lucia M; Bauer A; Spycher M; Jagannathan V; Romano E; Welle M; Leeb T
    Vet Dermatol; 2019 Feb; 30(1):64-e18. PubMed ID: 30474267
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Large Deletion in the
    Bauer A; De Lucia M; Jagannathan V; Mezzalira G; Casal ML; Welle MM; Leeb T
    G3 (Bethesda); 2017 Sep; 7(9):3115-3121. PubMed ID: 28739597
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.
    Atzmony L; Ugwu N; Hamilton C; Paller AS; Zech L; Antaya RJ; Choate KA
    Pediatr Dermatol; 2022 Nov; 39(6):903-907. PubMed ID: 35853659
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome.
    Bauer A; de Lucia M; Leuthard F; Jagannathan V; Leeb T
    Anim Genet; 2019 Oct; 50(5):546-549. PubMed ID: 31365140
    [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. 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]  

  • 10. SDR9C7 missense variant in a Chihuahua with non-epidermolytic ichthyosis.
    Kiener S; Castilla E; Jagannathan V; Welle M; Leeb T
    Anim Genet; 2023 Aug; 54(4):562-565. PubMed ID: 36967672
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Mild clinical presentation of a patient with a mutation in the NSDHL gene.
    Ormerod E; Bownass L; Smithson S; Zhang Y; Dunnill MGS
    Clin Exp Dermatol; 2019 Jun; 44(4):456-458. PubMed ID: 30488480
    [No Abstract]   [Full Text] [Related]  

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

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 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. CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder.
    Avgerinou GP; Asvesti AP; Katsambas AD; Nikolaou VA; Christofidou EC; Grzeschik KH; Happle R
    J Eur Acad Dermatol Venereol; 2010 Jun; 24(6):733-6. PubMed ID: 19906044
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.