BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 26419500)

  • 1. Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC.
    Abdel-Salam GM; Emam BA; Khalil YM; Abdel-Hamid MS
    Am J Med Genet A; 2016 Jan; 170A(1):277-82. PubMed ID: 26419500
    [No Abstract]   [Full Text] [Related]  

  • 2. Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.
    Abdel-Salam GM; Abdel-Hamid MS; Issa M; Magdy A; El-Kotoury A; Amr K
    Am J Med Genet A; 2012 Jun; 158A(6):1455-61. PubMed ID: 22581640
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I.
    Kilic E; Yigit G; Utine GE; Wollnik B; Mihci E; Nur BG; Boduroglu K
    Am J Med Genet A; 2015 Apr; 167A(4):919-21. PubMed ID: 25735804
    [No Abstract]   [Full Text] [Related]  

  • 4. Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.
    Krøigård AB; Jackson AP; Bicknell LS; Baple E; Brusgaard K; Hansen LK; Ousager LB
    Clin Dysmorphol; 2016 Apr; 25(2):68-72. PubMed ID: 26641461
    [No Abstract]   [Full Text] [Related]  

  • 5. Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome.
    Hagiwara H; Matsumoto H; Uematsu K; Zaha K; Sekinaka Y; Miyake N; Matsumoto N; Nonoyama S
    Brain Dev; 2021 Feb; 43(2):337-342. PubMed ID: 33059947
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.
    Nagy R; Wang H; Albrecht B; Wieczorek D; Gillessen-Kaesbach G; Haan E; Meinecke P; de la Chapelle A; Westman JA
    Clin Genet; 2012 Aug; 82(2):140-6. PubMed ID: 21815888
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.
    McMillan HJ; Davila J; Osmond M; Chakraborty P; ; Boycott KM; Dyment DA; Kernohan KD
    Am J Med Genet A; 2021 Nov; 185(11):3502-3506. PubMed ID: 34405953
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1).
    Krøigård AB; Frost M; Larsen MJ; Ousager LB; Frederiksen AL
    Bone; 2016 Nov; 92():145-149. PubMed ID: 27591150
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
    Abdel-Salam GM; Miyake N; Eid MM; Abdel-Hamid MS; Hassan NA; Eid OM; Effat LK; El-Badry TH; El-Kamah GY; El-Darouti M; Matsumoto N
    Am J Med Genet A; 2011 Nov; 155A(11):2885-96. PubMed ID: 21990275
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.
    Wang Y; Wu X; Du L; Zheng J; Deng S; Bi X; Chen Q; Xie H; Férec C; Cooper DN; Luo Y; Fang Q; Chen JM
    Hum Genomics; 2018 Jan; 12(1):3. PubMed ID: 29370840
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
    Farach LS; Little ME; Duker AL; Logan CV; Jackson A; Hecht JT; Bober M
    Am J Med Genet A; 2018 Feb; 176(2):465-469. PubMed ID: 29265708
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.
    Abdel-Salam GM; Abdel-Hamid MS; Hassan NA; Issa MY; Effat L; Ismail S; Aglan MS; Zaki MS
    Am J Med Genet A; 2013 Aug; 161A(8):1875-81. PubMed ID: 23794361
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
    Putoux A; Alqahtani A; Pinson L; Paulussen AD; Michel J; Besson A; Mazoyer S; Borg I; Nampoothiri S; Vasiljevic A; Uwineza A; Boggio D; Champion F; de Die-Smulders CE; Gardeitchik T; van Putten WK; Perez MJ; Musizzano Y; Razavi F; Drunat S; Verloes A; Hennekam R; Guibaud L; Alix E; Sanlaville D; Lesca G; Edery P
    Clin Genet; 2016 Dec; 90(6):550-555. PubMed ID: 27040866
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome: supporting evidence for an association between the PCNT gene and schizophrenia.
    Ozel F; Direk N; Ataseven Kulali M; Giray Bozkaya O; Ada E; Alptekin K
    Psychiatr Genet; 2019 Apr; 29(2):57-60. PubMed ID: 30531648
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.
    Pachajoa H; Ruiz-Botero F; Isaza C
    J Med Case Rep; 2014 Jun; 8():191. PubMed ID: 24928221
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Delineating the phenotype of RNU4ATAC-related spliceosomopathy.
    Tabib A; Richmond CM; McGaughran J
    Am J Med Genet A; 2023 Apr; 191(4):1094-1100. PubMed ID: 36622817
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Loss of U11 small nuclear RNA in the developing mouse limb results in micromelia.
    Drake KD; Lemoine C; Aquino GS; Vaeth AM; Kanadia RN
    Development; 2020 Aug; 147(21):. PubMed ID: 32665241
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II.
    Liu H; Tao N; Wang Y; Yang Y; He X; Zhang Y; Zhou Y; Liu X; Feng X; Sun M; Xu F; Su Y; Li L
    Mol Genet Genomic Med; 2021 Sep; 9(9):e1761. PubMed ID: 34331829
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Nicolas Ferry (1741-1764), the court dwarf of King Stanislas, probably suffered from microcephalic osteodysplastic primordial dwarfism type II (MOPD II).
    Bauduer F
    Med Hypotheses; 2016 Jul; 92():26-7. PubMed ID: 27241249
    [No Abstract]   [Full Text] [Related]  

  • 20. Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
    Merico D; Roifman M; Braunschweig U; Yuen RK; Alexandrova R; Bates A; Reid B; Nalpathamkalam T; Wang Z; Thiruvahindrapuram B; Gray P; Kakakios A; Peake J; Hogarth S; Manson D; Buncic R; Pereira SL; Herbrick JA; Blencowe BJ; Roifman CM; Scherer SW
    Nat Commun; 2015 Nov; 6():8718. PubMed ID: 26522830
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.