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 *

180 related articles for article (PubMed ID: 22269211)

  • 21. Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia.
    Patil P; Uechi T; Kenmochi N
    RNA Biol; 2015; 12(4):426-34. PubMed ID: 25849198
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review.
    Koparir A; Gezdirici A; Koparir E; Ulucan H; Yilmaz M; Erdemir A; Yuksel A; Ozen M
    Am J Med Genet A; 2014 Oct; 164A(10):2535-40. PubMed ID: 25044170
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Generation of poikiloderma with neutropenia (PN) induced pluripotent stem cells (iPSCs).
    Mills JA; Hudock KM; Sullivan SK; Herrera P; Sullivan LM; Gadue P; French DL
    Stem Cell Res; 2015 Nov; 15(3):595-7. PubMed ID: 26987923
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients.
    Wang LL; Gannavarapu A; Clericuzio CL; Erickson RP; Irvine AD; Plon SE
    Am J Med Genet A; 2003 Apr; 118A(3):299-301. PubMed ID: 12673665
    [No Abstract]   [Full Text] [Related]  

  • 25. Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis.
    Akdogan N; Kindis E; Bostan E; Utine E; Alikasifoglu M; Ersoy-Evans S
    J Clin Immunol; 2020 Aug; 40(6):934-939. PubMed ID: 32620997
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor.
    Colombo EA; Carra S; Fontana L; Bresciani E; Cotelli F; Larizza L
    Sci Rep; 2015 Nov; 5():15814. PubMed ID: 26522474
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
    Ashton GH; McLean WH; South AP; Oyama N; Smith FJ; Al-Suwaid R; Al-Ismaily A; Atherton DJ; Harwood CA; Leigh IM; Moss C; Didona B; Zambruno G; Patrizi A; Eady RA; McGrath JA
    J Invest Dermatol; 2004 Jan; 122(1):78-83. PubMed ID: 14962093
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Clinical utility gene card for: poikiloderma with neutropenia.
    Larizza L; Negri G; Colombo EA; Volpi L; Sznajer Y
    Eur J Hum Genet; 2013 Oct; 21(10):. PubMed ID: 23321617
    [No Abstract]   [Full Text] [Related]  

  • 29. RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.
    Beghini A; Castorina P; Roversi G; Modiano P; Larizza L
    Am J Med Genet A; 2003 Jul; 120A(3):395-9. PubMed ID: 12838562
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms.
    Negri G; Crescenzi B; Colombo EA; Fontana L; Barba G; Arcioni F; Gervasini C; Mecucci C; Larizza L
    Br J Haematol; 2015 Nov; 171(4):557-65. PubMed ID: 26306619
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.
    Gui B; Song Y; Hu X; Li H; Qin Z; Su J; Li C; Fan X; Li M; Luo J; Feng Y; Song L; Chen S; Gong C; Shen Y
    Gene; 2018 May; 654():110-115. PubMed ID: 29462647
    [TBL] [Abstract][Full Text] [Related]  

  • 32. When Rothmund-Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma with neutropenia.
    Tadros S; Forde K; Syed S; Gholam K; Hurst J
    Clin Dysmorphol; 2021 Jan; 30(1):50-53. PubMed ID: 32897901
    [No Abstract]   [Full Text] [Related]  

  • 33. [Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation].
    Durand F; Castorina P; Morant C; Delobel B; Barouk E; Modiano P
    Ann Dermatol Venereol; 2002; 129(6-7):892-5. PubMed ID: 12218919
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Spectrum of
    Arun AK; Senthamizhselvi A; Hemamalini S; Edison ES; Korula A; Fouzia NA; George B; Mathews V; Balasubramanian P
    J Clin Pathol; 2018 Dec; 71(12):1046-1050. PubMed ID: 30171085
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA.
    Shchepachev V; Wischnewski H; Missiaglia E; Soneson C; Azzalin CM
    Cell Rep; 2012 Oct; 2(4):855-65. PubMed ID: 23022480
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
    Wang LL; Gannavarapu A; Kozinetz CA; Levy ML; Lewis RA; Chintagumpala MM; Ruiz-Maldanado R; Contreras-Ruiz J; Cunniff C; Erickson RP; Lev D; Rogers M; Zackai EH; Plon SE
    J Natl Cancer Inst; 2003 May; 95(9):669-74. PubMed ID: 12734318
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Inherited skin disorders presenting with poikiloderma.
    Rayinda T; van Steensel M; Danarti R
    Int J Dermatol; 2021 Nov; 60(11):1343-1353. PubMed ID: 33739439
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Mutations in the cyto skeletal-extra cellular matrix connector genes in Weary-Kindler's poikiloderma].
    Dereure O
    Ann Dermatol Venereol; 2004; 131(8-9):853. PubMed ID: 15505563
    [No Abstract]   [Full Text] [Related]  

  • 39. Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
    Smith BN; Ancliff PJ; Pizzey A; Khwaja A; Linch DC; Gale RE
    Br J Haematol; 2009 Mar; 144(5):762-70. PubMed ID: 19036076
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Screening of genetic variants in
    Arunachalam AK; Suresh H; Edison ES; Korula A; Aboobacker FN; George B; Shaji RV; Mathews V; Balasubramanian P
    J Clin Pathol; 2020 Jun; 73(6):322-327. PubMed ID: 31732620
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.