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 *

224 related articles for article (PubMed ID: 31953711)

  • 41. Perinatal hypophosphatasia caused by uniparental isodisomy.
    Watanabe A; Satoh S; Fujita A; Naing BT; Orimo H; Shimada T
    Bone; 2014 Mar; 60():93-7. PubMed ID: 24334170
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Concomitant
    Rodriguez R; Fournier B; Cordeiro DJ; Winter S; Izawa K; Martin E; Boutboul D; Lenoir C; Fraitag S; Kracker S; Watts TH; Picard C; Bruneau J; Callebaut I; Fischer A; Neven B; Latour S
    J Exp Med; 2019 Dec; 216(12):2800-2818. PubMed ID: 31537641
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.
    Zeng WQ; Gao H; Brueton L; Hutchin T; Gray G; Chakrapani A; Olpin S; Shih VE
    Am J Med Genet A; 2006 May; 140(9):1004-9. PubMed ID: 16575891
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Establishment of a non-integrated iPSC (SDQLCHi068-A) line derived from a patient with autosomal dominant immunodeficiency-14A carrying a heterozygous mutation (c.3061G>A) in PIK3CD gene.
    Xin H; Lv Y; Wei X; Song W; Li Z; Liu Y; Gai Z
    Stem Cell Res; 2024 Jun; 77():103385. PubMed ID: 38507881
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4
    Bier J; Rao G; Payne K; Brigden H; French E; Pelham SJ; Lau A; Lenthall H; Edwards ESJ; Smart JM; Cole TS; Choo S; Joshi AY; Abraham RS; O'Sullivan M; Boztug K; Meyts I; Gray PE; Berglund LJ; Hsu P; Wong M; Holland SM; Notarangelo LD; Uzel G; Ma CS; Brink R; Tangye SG; Deenick EK
    J Allergy Clin Immunol; 2019 Jul; 144(1):236-253. PubMed ID: 30738173
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Homozygosity for a Novel
    Kivrak Pfiffner F; Koller S; Ménétrey A; Graf U; Bähr L; Maspoli A; Hackenberg A; Kottke R; Gerth-Kahlert C; Berger W
    Int J Mol Sci; 2022 Jul; 23(13):. PubMed ID: 35806387
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion.
    Kiyota K; Yoshiura KI; Houbara R; Miyahara H; Korematsu S; Ihara K
    Eur J Med Genet; 2018 Oct; 61(10):631-633. PubMed ID: 29673649
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
    Indo Y; Mardy S; Miura Y; Moosa A; Ismail EA; Toscano E; Andria G; Pavone V; Brown DL; Brooks A; Endo F; Matsuda I
    Hum Mutat; 2001 Oct; 18(4):308-18. PubMed ID: 11668614
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features.
    Sharfe N; Karanxha A; Dadi H; Merico D; Chitayat D; Herbrick JA; Freeman S; Grinstein S; Roifman CM
    J Allergy Clin Immunol; 2018 Aug; 142(2):618-629. PubMed ID: 29180244
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient.
    Wang H; Huo L; Wang Y; Sun W; Gu W
    Mol Genet Genomic Med; 2021 Oct; 9(10):e1779. PubMed ID: 34405590
    [TBL] [Abstract][Full Text] [Related]  

  • 51. T and B-cell signaling in activated PI3K delta syndrome: From immunodeficiency to autoimmunity.
    Preite S; Gomez-Rodriguez J; Cannons JL; Schwartzberg PL
    Immunol Rev; 2019 Sep; 291(1):154-173. PubMed ID: 31402502
    [TBL] [Abstract][Full Text] [Related]  

  • 52. [Clinical and immunological characteristics of a case with activated phosphoinositide 3-kinase δ syndrome 2].
    Yang QY; Jia YJ; Wang YP; Zeng T; Zhao XD; Zhou LN
    Zhonghua Er Ke Za Zhi; 2020 May; 58(5):413-417. PubMed ID: 32392959
    [No Abstract]   [Full Text] [Related]  

  • 53. Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies.
    Karanovic D; Michelow IC; Hayward AR; DeRavin SS; Delmonte OM; Grigg ME; Dobbs AK; Niemela JE; Stoddard J; Alhinai Z; Rybak N; Hernandez N; Pittaluga S; Rosenzweig SD; Uzel G; Notarangelo LD
    Front Immunol; 2019; 10():77. PubMed ID: 30891027
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.
    Tamura M; Isojima T; Kawashima M; Yoshida H; Yamamoto K; Kitaoka T; Namba N; Oka A; Ozono K; Tokunaga K; Kitanaka S
    PLoS One; 2015; 10(7):e0131157. PubMed ID: 26153892
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.
    Douglas GV; Wiszniewska J; Lipson MH; Witt DR; McDowell T; Sifry-Platt M; Hirano M; Craigen WJ; Wong LJ
    J Hum Genet; 2011 Dec; 56(12):834-9. PubMed ID: 22011815
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Human primary immunodeficiency caused by expression of a kinase-dead p110δ mutant.
    Cohen SB; Bainter W; Johnson JL; Lin TY; Wong JCY; Wallace JG; Jones J; Qureshi S; Mir F; Qamar F; Cantley LC; Geha RS; Chou J
    J Allergy Clin Immunol; 2019 Feb; 143(2):797-799.e2. PubMed ID: 30336224
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Segmental uniparental disomy as a rare cause of congenital severe factor XIII deficiency in a girl with only one heterozygous carrier parent.
    Shen MC; Chen M; Chang SP; Lin PT; Hsieh HN; Lin KH
    Pediatr Hematol Oncol; 2018; 35(7-8):442-446. PubMed ID: 30702381
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency.
    Cho SY; Goh DL; Lau KC; Ong HT; Lam CW
    Clin Chim Acta; 2013 Nov; 426():13-7. PubMed ID: 23994568
    [TBL] [Abstract][Full Text] [Related]  

  • 59. [Activated phosphoinositide 3-kinase delta syndrome: report of seven cases].
    Liu QH; Peng L; Huang H; Deng LJ; Zhong LL
    Zhongguo Dang Dai Er Ke Za Zhi; 2024 May; 26(5):499-505. PubMed ID: 38802911
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.
    Carmichael H; Shen Y; Nguyen TT; Hirschhorn JN; Dauber A
    Clin Genet; 2013 Sep; 84(3):213-22. PubMed ID: 23167750
    [TBL] [Abstract][Full Text] [Related]  

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