165 related articles for article (PubMed ID: 31695177)
1. 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]
2. 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]
3. 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]
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. 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]
7. 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]
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. [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]
10. 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]
11. Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia.
Terhal PA; Vlaar JM; Middelkamp S; Nievelstein RAJ; Nikkels PGJ; Ross J; Créton M; Bos JW; Voskuil-Kerkhof ESM; Cuppen E; Knoers N; van Gassen KLI
Eur J Hum Genet; 2020 Jan; 28(1):31-39. PubMed ID: 31089205
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
Schrauwen I; Szelinger S; Siniard AL; Kurdoglu A; Corneveaux JJ; Malenica I; Richholt R; Van Camp G; De Both M; Swaminathan S; Turk M; Ramsey K; Craig DW; Narayanan V; Huentelman MJ
PLoS One; 2015; 10(7):e0131797. PubMed ID: 26176221
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.
Jacquinet A; Verloes A; Callewaert B; Coremans C; Coucke P; de Paepe A; Kornak U; Lebrun F; Lombet J; Piérard GE; Robinson PN; Symoens S; Van Maldergem L; Debray FG
Eur J Med Genet; 2014 Apr; 57(5):230-4. PubMed ID: 24613577
[TBL] [Abstract][Full Text] [Related]
19. Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients.
Arboleda H; Quintero L; Yunis E
J Med Genet; 1997 May; 34(5):433-7. PubMed ID: 9152846
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
