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Journal Abstract Search

409 related items for PubMed ID: 25900314

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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 Jul; 46(3):232-7. PubMed ID: 18825599
    [Abstract] [Full Text] [Related]

  • 5. 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
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  • 8. Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome.
    Maceda EBG, Kratz LE, Ramos VME, Abacan MAR.
    BMJ Case Rep; 2020 Nov 02; 13(11):. PubMed ID: 33139364
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  • 9. 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 Nov 02; 32(6):e277-82. PubMed ID: 26459993
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  • 10. 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 02; 30(12):e201-e202. PubMed ID: 26611379
    [No Abstract] [Full Text] [Related]

  • 11. A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
    Raychaudhury T, George R, Mandal K, Srivastava VM, Thomas M, Bornholdt D, Grzeschik KH, Koehler A.
    Pediatr Dermatol; 2013 Dec 02; 30(2):250-2. PubMed ID: 22471832
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  • 12. Large deletions in the NSDHL gene in two patients with CHILD syndrome.
    Yang Z, Hartmann B, Xu Z, Ma L, Happle R, Schlipf N, Zhang LX, Xu ZG, Wang ZY, Fischer J.
    Acta Derm Venereol; 2015 Nov 02; 95(8):1007-8. PubMed ID: 26014843
    [No Abstract] [Full Text] [Related]

  • 13. CHILD syndrome: A modified pathogenesis-targeted therapeutic approach.
    Bergqvist C, Abdallah B, Hasbani DJ, Abbas O, Kibbi AG, Hamie L, Kurban M, Rubeiz N.
    Am J Med Genet A; 2018 Mar 02; 176(3):733-738. PubMed ID: 29392821
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  • 14. A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.
    Tan EC, Chia SY, Rafi'ee K, Lee SX, Kwek ABE, Tan SH, Ng VWL, Wei H, Koo S, Koh AL, Koh MJ.
    Mol Genet Genomic Med; 2022 Jan 02; 10(1):e1848. PubMed ID: 34957706
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  • 15. Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
    McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF.
    Am J Hum Genet; 2010 Dec 10; 87(6):905-14. PubMed ID: 21129721
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  • 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 10; 128(1):60-69. PubMed ID: 31078502
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  • 18. CHILD syndrome: effective treatment of ichthyosiform naevus with oral and topical ketoconazole.
    Liu T, Qian G, Wang XX, Zhang YG.
    Acta Derm Venereol; 2015 Jan 10; 95(1):91-2. PubMed ID: 24696032
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  • 20. 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 Jan 10; 211(2):155-8. PubMed ID: 16088165
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