187 related articles for article (PubMed ID: 30023403)
21. Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.
Chopra M; Caswell R; Barcia G; Rondeau S; Jonard L; Nitchké P; Amram D; Bellaiche ML; Abadie V; Parodi M; Denoyelle F; Hattersley A; Bole C; Lyonnet S; Marlin S
Eur J Hum Genet; 2022 Aug; 30(8):960-966. PubMed ID: 35590056
[TBL] [Abstract][Full Text] [Related]
22. A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection.
Wang XW; Lu LY; Xie Y; Yu XJ
Chin Med J (Engl); 2020 Aug; 133(16):2009-2011. PubMed ID: 32826474
[No Abstract] [Full Text] [Related]
23. Mutations Involved in Premature-Ageing Syndromes.
Coppedè F
Appl Clin Genet; 2021; 14():279-295. PubMed ID: 34103969
[TBL] [Abstract][Full Text] [Related]
24. Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred.
Montenegro RM; Costa-Riquetto AD; Fernandes VO; Montenegro APDR; de Santana LS; Jorge AAL; Karbage LBAS; Aguiar LB; Carvalho FHC; Teles MG; d'Alva CB
Front Endocrinol (Lausanne); 2018; 9():458. PubMed ID: 30177912
[No Abstract] [Full Text] [Related]
25. Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant.
Garg A; Keng WT; Chen Z; Sathe AA; Xing C; Kailasam PD; Shao Y; Lesner NP; Llamas CB; Agarwal AK; Mishra P
J Clin Invest; 2022 Dec; 132(23):. PubMed ID: 36282599
[TBL] [Abstract][Full Text] [Related]
26. Targeted Next Generation Sequencing Revealed a Novel Homozygous
An J; Yang J; Wang Y; Wang Y; Xu B; Xie G; Chai S; Liu X; Xu S; Wen X; He Q; Liu H; Li C; Dey SK; Ni Y; Banerjee S
Front Genet; 2019; 10():1. PubMed ID: 30804975
[TBL] [Abstract][Full Text] [Related]
27. POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies.
Nicolas E; Golemis EA; Arora S
Gene; 2016 Sep; 590(1):128-41. PubMed ID: 27320729
[TBL] [Abstract][Full Text] [Related]
28. A case of Werner syndrome without metabolic abnormality: implications for the early pathophysiology.
Takada-Watanabe A; Yokote K; Takemoto M; Fujimoto M; Irisuna H; Honjo S; Futami K; Furuichi Y; Saito Y
Geriatr Gerontol Int; 2012 Jan; 12(1):140-6. PubMed ID: 22188495
[TBL] [Abstract][Full Text] [Related]
29. Genomic diagnosis by whole genome sequencing in a Korean family with atypical progeroid syndrome.
Lee S; Park SM; Kim HJ; Kim JW; Yu DS; Lee YB
J Dermatol; 2015 Dec; 42(12):1149-52. PubMed ID: 26122271
[TBL] [Abstract][Full Text] [Related]
30. Scrutinizing Deleterious Nonsynonymous SNPs and Their Effect on Human POLD1 Gene.
Bappy MNI; Roy A; Rabbi MGR; Jahan N; Chowdhury FA; Hoque SF; Sajib EH; Khan P; Hossain FMA; Zinnah KMA
Genet Res (Camb); 2022; 2022():1740768. PubMed ID: 35620275
[TBL] [Abstract][Full Text] [Related]
31. LMNA mutations in progeroid syndromes.
Huang S; Kennedy BK; Oshima J
Novartis Found Symp; 2005; 264():197-202; discussion 202-7, 227-30. PubMed ID: 15773755
[TBL] [Abstract][Full Text] [Related]
32. Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.
Garg A; Kircher M; Del Campo M; Amato RS; Agarwal AK;
Am J Med Genet A; 2015 Aug; 167A(8):1796-806. PubMed ID: 25898808
[TBL] [Abstract][Full Text] [Related]
33. The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant.
Lu Z; Zhang W; Mao X; Li D; Chen X; Liu L; Lin Y
Clin Genet; 2024 Feb; 105(2):209-213. PubMed ID: 37867468
[TBL] [Abstract][Full Text] [Related]
34. Severe metabolic disorders coexisting with Werner syndrome: a case report.
Li H; Yang M; Shen H; Wang S; Cai H
Endocr J; 2021 Mar; 68(3):261-267. PubMed ID: 33087645
[TBL] [Abstract][Full Text] [Related]
35. A novel mutation of the WRN gene in a Chinese patient with Werner syndrome.
Zhao N; Hao F; Qu T; Zuo YG; Wang BX
Clin Exp Dermatol; 2008 May; 33(3):278-81. PubMed ID: 18205852
[TBL] [Abstract][Full Text] [Related]
36. A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome.
Yeter Doğan B; Günay N; Ada Y; Doğan ME
Am J Med Genet A; 2023 Jan; 191(1):173-182. PubMed ID: 36269149
[TBL] [Abstract][Full Text] [Related]
37. Inactivating Mutations in Exonuclease and Polymerase Domains in DNA Polymerase Delta Alter Sensitivities to Inhibitors of dNTP Synthesis.
Zhang J; Hou D; Annis J; Sargolzaeiaval F; Appelbaum J; Takahashi E; Martin GM; Herr A; Oshima J
DNA Cell Biol; 2020 Jan; 39(1):50-56. PubMed ID: 31750734
[No Abstract] [Full Text] [Related]
38. A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a
Garg A; El-Shanti H; Xing C; Zhou Z; Abujbara M; Al-Rashed K; El-Khateeb M; Ajlouni K; Agarwal AK
J Endocr Soc; 2020 Aug; 4(8):bvaa088. PubMed ID: 32803092
[TBL] [Abstract][Full Text] [Related]
39. Werner syndrome: clinical evaluation of two cases and a novel mutation.
Mansur AT; Elçioglu NH; Demirci GT
Genet Couns; 2014; 25(2):119-27. PubMed ID: 25059010
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
