BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

234 related articles for article (PubMed ID: 24055370)

  • 21. Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.
    Davit-Spraul A; Piraud M; Dobbelaere D; Valayannopoulos V; Labrune P; Habes D; Bernard O; Jacquemin E; Baussan C
    Mol Genet Metab; 2011; 104(1-2):137-43. PubMed ID: 21646031
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A novel
    Zhu H; Zhang T; Yuan H; Chen Y; Ding J; Ding H; Shi X; Gu D; Ma Y
    Front Endocrinol (Lausanne); 2023; 14():1332450. PubMed ID: 38192425
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing.
    Szelinger S; Malenica I; Corneveaux JJ; Siniard AL; Kurdoglu AA; Ramsey KM; Schrauwen I; Trent JM; Narayanan V; Huentelman MJ; Craig DW
    PLoS One; 2014; 9(12):e113036. PubMed ID: 25503791
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders.
    Kloska A; Jakóbkiewicz-Banecka J; Tylki-Szymańska A; Czartoryska B; Węgrzyn G
    Clin Genet; 2011 Nov; 80(5):459-65. PubMed ID: 21062272
    [TBL] [Abstract][Full Text] [Related]  

  • 25. X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.
    Xinhua Bao ; Shengling Jiang ; Fuying Song ; Hong Pan ; Meirong Li ; Wu XR
    J Child Neurol; 2008 Jan; 23(1):22-5. PubMed ID: 18184939
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis.
    Uz E; Mustafa C; Topaloglu R; Bilginer Y; Dursun A; Kasapcopur O; Ozen S; Bakkaloglu A; Ozcelik T
    Arthritis Rheum; 2009 Nov; 60(11):3410-2. PubMed ID: 19877028
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Female Fabry disease patients and X-chromosome inactivation.
    Juchniewicz P; Kloska A; Tylki-Szymańska A; Jakóbkiewicz-Banecka J; Węgrzyn G; Moskot M; Gabig-Cimińska M; Piotrowska E
    Gene; 2018 Jan; 641():259-264. PubMed ID: 29079200
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant.
    Matsumoto A; Kano S; Kobayashi N; Matsuki M; Furukawa R; Yamagishi H; Yoshinari H; Nakata W; Wakabayashi H; Tsuda H; Watanabe K; Takahashi H; Yamagata T; Matsumura T; Osaka H; Mori H; Iwamoto S
    Sci Rep; 2024 Jan; 14(1):440. PubMed ID: 38172222
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Splicing abnormalities caused by a novel mutation in the
    Zhang ZH; Zheng BX; Zhuo YJ; Jin Y; Liu ZF; Zheng YC
    Zhonghua Gan Zang Bing Za Zhi; 2023 Apr; 31(4):428-432. PubMed ID: 37248983
    [No Abstract]   [Full Text] [Related]  

  • 30. Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.
    Albash B; Imtiaz F; Al-Zaidan H; Al-Manea H; Banemai M; Allam R; Al-Suheel A; Al-Owain M
    Eur J Pediatr; 2014 May; 173(5):647-53. PubMed ID: 24326380
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1.
    Lose F; Duffy DL; Kay GF; Kedda MA; Spurdle AB; ;
    J Natl Cancer Inst; 2008 Nov; 100(21):1519-29. PubMed ID: 18957670
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.
    Giovenino C; Trajkova S; Pavinato L; Cardaropoli S; Pullano V; Ferrero E; Sukarova-Angelovska E; Carestiato S; Salmin P; Rinninella A; Battaglia A; Bertoli L; Fadda A; Palermo F; Carli D; Mussa A; Dimartino P; Bruselles A; Froukh T; Mandrile G; Pasini B; De Rubeis S; Buxbaum JD; Pippucci T; Tartaglia M; Rossato M; Delledonne M; Ferrero GB; Brusco A
    Eur J Hum Genet; 2023 Nov; 31(11):1228-1236. PubMed ID: 36879111
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Analysis of X chromosome inactivation in autism spectrum disorders.
    Gong X; Bacchelli E; Blasi F; Toma C; Betancur C; Chaste P; Delorme R; Durand CM; Fauchereau F; Botros HG; Leboyer M; Mouren-Simeoni MC; Nygren G; Anckarsäter H; Rastam M; Gillberg IC; Gillberg C; Moreno-De-Luca D; Carone S; Nummela I; Rossi M; Battaglia A; ; Jarvela I; Maestrini E; Bourgeron T
    Am J Med Genet B Neuropsychiatr Genet; 2008 Sep; 147B(6):830-5. PubMed ID: 18361425
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome.
    Takahashi S; Ohinata J; Makita Y; Suzuki N; Araki A; Sasaki A; Murono K; Tanaka H; Fujieda K
    Clin Genet; 2008 Mar; 73(3):257-61. PubMed ID: 18190595
    [TBL] [Abstract][Full Text] [Related]  

  • 35. X chromosome inactivation patterns in normal and X-linked hereditary nephropathy carrier dogs.
    Bell RJ; Lees GE; Murphy KE
    Cytogenet Genome Res; 2008; 122(1):37-40. PubMed ID: 18931484
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis.
    Beyzaei Z; Ezgu F; Imanieh MH; Geramizadeh B
    J Pediatr Endocrinol Metab; 2022 Mar; 35(3):417-420. PubMed ID: 34727590
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Skewed X chromosome inactivation in diploid and triploid female human embryonic stem cells.
    Liu W; Sun X
    Hum Reprod; 2009 Aug; 24(8):1834-43. PubMed ID: 19429659
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Skewed X chromosome inactivation in blood cells of women with scleroderma.
    Ozbalkan Z; Bagişlar S; Kiraz S; Akyerli CB; Ozer HT; Yavuz S; Birlik AM; Calgüneri M; Ozçelik T
    Arthritis Rheum; 2005 May; 52(5):1564-70. PubMed ID: 15880831
    [TBL] [Abstract][Full Text] [Related]  

  • 39. X-inactivation in Fabry disease.
    Elstein D; Schachamorov E; Beeri R; Altarescu G
    Gene; 2012 Sep; 505(2):266-8. PubMed ID: 22710134
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases.
    Chabchoub G; Uz E; Maalej A; Mustafa CA; Rebai A; Mnif M; Bahloul Z; Farid NR; Ozcelik T; Ayadi H
    Arthritis Res Ther; 2009; 11(4):R106. PubMed ID: 19589151
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.