BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

208 related articles for article (PubMed ID: 27612211)

  • 1. Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.
    Jay AM; Conway RL; Thiffault I; Saunders C; Farrow E; Adams J; Toriello HV
    Am J Med Genet A; 2016 Dec; 170(12):3343-3346. PubMed ID: 27612211
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Specific combinations of biallelic
    Paolacci S; Li Y; Agolini E; Bellacchio E; Arboleda-Bustos CE; Carrero D; Bertola D; Al-Gazali L; Alders M; Altmüller J; Arboleda G; Beleggia F; Bruselles A; Ciolfi A; Gillessen-Kaesbach G; Krieg T; Mohammed S; Müller C; Novelli A; Ortega J; Sandoval A; Velasco G; Yigit G; Arboleda H; Lopez-Otin C; Wollnik B; Tartaglia M; Hennekam RC
    J Med Genet; 2018 Dec; 55(12):837-846. PubMed ID: 30323018
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.
    Majethia P; Girisha KM
    Am J Med Genet A; 2021 May; 185(5):1602-1605. PubMed ID: 33559318
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
    Wambach JA; Wegner DJ; Patni N; Kircher M; Willing MC; Baldridge D; Xing C; Agarwal AK; Vergano SAS; Patel C; Grange DK; Kenney A; Najaf T; Nickerson DA; Bamshad MJ; Cole FS; Garg A
    Am J Hum Genet; 2018 Dec; 103(6):968-975. PubMed ID: 30414627
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
    Lessel D; Ozel AB; Campbell SE; Saadi A; Arlt MF; McSweeney KM; Plaiasu V; Szakszon K; Szőllős A; Rusu C; Rojas AJ; Lopez-Valdez J; Thiele H; Nürnberg P; Nickerson DA; Bamshad MJ; Li JZ; Kubisch C; Glover TW; Gordon LB
    Hum Genet; 2018 Dec; 137(11-12):921-939. PubMed ID: 30450527
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.
    Beauregard-Lacroix E; Salian S; Kim H; Ehresmann S; DʹAmours G; Gauthier J; Saillour V; Bernard G; Mitchell GA; Soucy JF; Michaud JL; Campeau PM
    Eur J Hum Genet; 2020 Apr; 28(4):461-468. PubMed ID: 31695177
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.
    Khan A; Al Shamsi B; Al Shehhi M; Kashgari AA; Al Balushi A; Al Dihan FA; Alghamdi MA; Manal A; González-Álvarez AC; Arold ST; Eyaid W
    Mol Genet Genomic Med; 2024 Mar; 12(3):e2274. PubMed ID: 38348603
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.
    Kovalskaia VA; Kungurtseva AL; Bostanova FM; Vasiliev PA; Tabakov VY; Orlova MD; Povolotskaya IS; Novoselova OG; Bikanov RA; Akhyamova MA; Tikhonovich YV; Popovich AV; Vitebskaya AV; Dadali EL; Ryzhkova OP
    Genes (Basel); 2024 Jan; 15(2):. PubMed ID: 38397171
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome.
    Temel SG; Ergoren MC; Manara E; Paolacci S; Tuncel G; Gul S; Bertelli M
    Eur J Hum Genet; 2020 Dec; 28(12):1675-1680. PubMed ID: 32555393
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies.
    Lessel D; Rading K; Campbell SE; Thiele H; Altmüller J; Gordon LB; Kubisch C
    Am J Med Genet A; 2022 Jan; 188(1):216-223. PubMed ID: 34611991
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.
    Wu SW; Li L; Feng F; Wang L; Kong YY; Liu XW; Yin C
    Ital J Pediatr; 2021 Jul; 47(1):160. PubMed ID: 34289880
    [TBL] [Abstract][Full Text] [Related]  

  • 12. POLR3A Identified as Major Locus for Autosomal Recessive Wiedemann-Rautenstrauch Syndrome: New findings show "compelling evidence" that POLR3A mutations underlie the etiology of autosomal-recessive WRS.
    Am J Med Genet A; 2019 Feb; 179(2):146-147. PubMed ID: 30690919
    [No Abstract]   [Full Text] [Related]  

  • 13. Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs.
    Arboleda G; Morales LC; Quintero L; Arboleda H
    Am J Med Genet A; 2011 Jul; 155A(7):1712-5. PubMed ID: 21671373
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Wiedemann-Rautenstrauch syndrome. The first description of a clinical case in the Russian Federation].
    Kungurtseva AL; Popovich AV; Tikhonovich YV; Vitebskaya AV
    Probl Endokrinol (Mosk); 2023 Oct; 70(2):86-93. PubMed ID: 38796765
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia.
    Fellner A; Lossos A; Kogan E; Argov Z; Gonzaga-Jauregui C; Shuldiner AR; Darawshe M; Bazak L; Lidzbarsky G; Shomron N; Basel-Salmon L; Goldberg Y
    Clin Genet; 2021 May; 99(5):713-718. PubMed ID: 33491183
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Wiedemann-Rautenstrauch syndrome: A phenotype analysis.
    Paolacci S; Bertola D; Franco J; Mohammed S; Tartaglia M; Wollnik B; Hennekam RC
    Am J Med Genet A; 2017 Jul; 173(7):1763-1772. PubMed ID: 28447407
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.
    Tewari VV; Mehta R; Sreedhar CM; Tewari K; Mohammad A; Gupta N; Gulati S; Kabra M
    BMC Pediatr; 2018 Apr; 18(1):126. PubMed ID: 29618326
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann-Rautenstrauch syndrome fibroblasts.
    Báez-Becerra CT; Valencia-Rincón E; Velásquez-Méndez K; Ramírez-Suárez NJ; Guevara C; Sandoval-Hernandez A; Arboleda-Bustos CE; Olivos-Cisneros L; Gutiérrez-Ospina G; Arboleda H; Arboleda G
    Mech Ageing Dev; 2020 Dec; 192():111360. PubMed ID: 32976914
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Wiedemann-Rautenstrauch syndrome: report of a variant case.
    Kiraz A; Ozen S; Tubas F; Usta Y; Aldemir O; Alanay Y
    Am J Med Genet A; 2012 Jun; 158A(6):1434-6. PubMed ID: 22585414
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 11.