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 *

36 related articles for article (PubMed ID: 25728400)

  • 1. Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin.
    Franco HL; Casasnovas JJ; Leon RG; Friesel R; Ge Y; Desnick RJ; Cadilla CL
    Int J Biochem Cell Biol; 2011 Oct; 43(10):1523-31. PubMed ID: 21801849
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations.
    Chaudhry C; Kumari D; Panigrahi I; Kaur P
    J Pediatr Genet; 2023 Dec; 12(4):342-347. PubMed ID: 38162157
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mechanisms of Regulation of the
    Casasnovas-Nieves JJ; Rodríguez Y; Franco HL; Cadilla CL
    Genes (Basel); 2023 Aug; 14(9):. PubMed ID: 37761873
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells.
    Crespo NE; Torres-Bracero A; Renta JY; Desnick RJ; Cadilla CL
    Int J Environ Res Public Health; 2021 Feb; 18(4):. PubMed ID: 33669496
    [No Abstract]   [Full Text] [Related]  

  • 5. Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients.
    Lee BH; Morice-Picard F; Boralevi F; Chen B; Desnick RJ
    J Hum Genet; 2018 Mar; 63(3):257-261. PubMed ID: 29263414
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 1p36 deletion syndrome: an update.
    Jordan VK; Zaveri HP; Scott DA
    Appl Clin Genet; 2015; 8():189-200. PubMed ID: 26345236
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.
    Lee BH; Aggarwal A; Slavotinek A; Edelmann L; Chen B; Desnick RJ
    J Med Genet; 2017 Sep; 54(9):585-590. PubMed ID: 28663233
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The focal facial dermal dysplasias: report of a kindred and a proposed new classification.
    Kowalski DC; Fenske NA
    J Am Acad Dermatol; 1992 Oct; 27(4):575-82. PubMed ID: 1401310
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).
    Weaver DD; Norby AR; Rosenfeld JA; Proud VK; Spangler BE; Ming JE; Chisholm E; Zackai EH; Lee BH; Edelmann L; Desnick RJ
    Am J Med Genet A; 2015 May; 167A(5):1061-70. PubMed ID: 25728400
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.
    Lee BH; Kasparis C; Chen B; Mei H; Edelmann L; Moss C; Weaver DD; Desnick RJ
    J Hum Genet; 2015 Nov; 60(11):717-22. PubMed ID: 26311541
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.
    Cervantes-Barragán DE; Villarroel CE; Medrano-Hernández A; Durán-McKinster C; Bosch-Canto V; Del-Castillo V; Nazarenko I; Yang A; Desnick RJ
    J Med Genet; 2011 Oct; 48(10):716-20. PubMed ID: 21931173
    [TBL] [Abstract][Full Text] [Related]  

  • 12. De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).
    Oh RY; Chun K; Kowalski PE; Chitayat D
    Am J Med Genet A; 2023 Jun; 191(6):1607-1613. PubMed ID: 36942595
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Setleis syndrome: genetic and clinical findings in a new case with epilepsy.
    Giordano L; Desnick RJ; Molinaro A; Uliana V; Forzano F; Edelmann L; Nazarenko I; Pinelli L; Accorsi P; Faravelli F
    Pediatr Neurol; 2014 Apr; 50(4):389-91. PubMed ID: 24486222
    [TBL] [Abstract][Full Text] [Related]  

  • 14.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 15.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 16.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 17.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 18.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 19.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 2.