BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

145 related articles for article (PubMed ID: 37554900)

  • 1. Uncertain significance mutation in the POLR3B gene in a Syrian boy with leukodystrophy: a case report.
    Hamdan Z; Alasmar D
    Ann Med Surg (Lond); 2023 Aug; 85(8):4126-4130. PubMed ID: 37554900
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.
    Bai H; Li D; Zheng Y; Jiang X
    Medicine (Baltimore); 2022 Aug; 101(34):e30350. PubMed ID: 36042647
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.
    Michell-Robinson MA; Watt KEN; Grouza V; Macintosh J; Pinard M; Tuznik M; Chen X; Darbelli L; Wu CL; Perrier S; Chitsaz D; Uccelli NA; Liu H; Cox TC; Müller CW; Kennedy TE; Coulombe B; Rudko DA; Trainor PA; Bernard G
    Brain; 2023 Dec; 146(12):5070-5085. PubMed ID: 37635302
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
    Pelletier F; Perrier S; Cayami FK; Mirchi A; Saikali S; Tran LT; Ulrick N; Guerrero K; Rampakakis E; van Spaendonk RML; Naidu S; Pohl D; Gibson WT; Demos M; Goizet C; Tejera-Martin I; Potic A; Fogel BL; Brais B; Sylvain M; Sébire G; Lourenço CM; Bonkowsky JL; Catsman-Berrevoets C; Pinto PS; Tirupathi S; Strømme P; de Grauw T; Gieruszczak-Bialek D; Krägeloh-Mann I; Mierzewska H; Philippi H; Rankin J; Atik T; Banwell B; Benko WS; Blaschek A; Bley A; Boltshauser E; Bratkovic D; Brozova K; Cimas I; Clough C; Corenblum B; Dinopoulos A; Dolan G; Faletra F; Fernandez R; Fletcher J; Garcia Garcia ME; Gasparini P; Gburek-Augustat J; Gonzalez Moron D; Hamati A; Harting I; Hertzberg C; Hill A; Hobson GM; Innes AM; Kauffman M; Kirwin SM; Kluger G; Kolditz P; Kotzaeridou U; La Piana R; Liston E; McClintock W; McEntagart M; McKenzie F; Melançon S; Misbahuddin A; Suri M; Monton FI; Moutton S; Murphy RPJ; Nickel M; Onay H; Orcesi S; Özkınay F; Patzer S; Pedro H; Pekic S; Pineda Marfa M; Pizzino A; Plecko B; Poll-The BT; Popovic V; Rating D; Rioux MF; Rodriguez Espinosa N; Ronan A; Ostergaard JR; Rossignol E; Sanchez-Carpintero R; Schossig A; Senbil N; Sønderberg Roos LK; Stevens CA; Synofzik M; Sztriha L; Tibussek D; Timmann D; Tonduti D; van de Warrenburg BP; Vázquez-López M; Venkateswaran S; Wasling P; Wassmer E; Webster RI; Wiegand G; Yoon G; Rotteveel J; Schiffmann R; van der Knaap MS; Vanderver A; Martos-Moreno GÁ; Polychronakos C; Wolf NI; Bernard G
    J Clin Endocrinol Metab; 2021 Jan; 106(2):e660-e674. PubMed ID: 33005949
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Case report: Neuropsychological assessment in a patient with 4H leukodystrophy.
    Haneda A; Hoots JK; Hagy HA; Lacy M
    Clin Neuropsychol; 2024 Jul; 38(5):1272-1289. PubMed ID: 37974060
    [No Abstract]   [Full Text] [Related]  

  • 6. 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]  

  • 7. 4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.
    Verberne EA; Dalen Meurs L; Wolf NI; van Haelst MM
    Am J Med Genet A; 2020 Jul; 182(7):1776-1779. PubMed ID: 32319736
    [TBL] [Abstract][Full Text] [Related]  

  • 8. POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches.
    Perrier S; Michell-Robinson MA; Bernard G
    Front Cell Neurosci; 2020; 14():631802. PubMed ID: 33633543
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.
    Jurkiewicz E; Dunin-Wąsowicz D; Gieruszczak-Białek D; Malczyk K; Guerrero K; Gutierrez M; Tran L; Bernard G
    Clin Neuroradiol; 2017 Jun; 27(2):213-220. PubMed ID: 26478204
    [TBL] [Abstract][Full Text] [Related]  

  • 10. POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?
    Coulombe B; Derksen A; La Piana R; Brais B; Gauthier MS; Bernard G
    Fac Rev; 2021; 10():12. PubMed ID: 33659930
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature.
    Billington E; Bernard G; Gibson W; Corenblum B
    Case Rep Endocrinol; 2015; 2015():314594. PubMed ID: 26113998
    [TBL] [Abstract][Full Text] [Related]  

  • 12. POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.
    Kulhánek J; Brožová K; Hansíková H; Vondráčková A; Stránecký V; Šenkyřík J; Kmoch S; Zeman J; Honzík T; Tesařová M
    Neurol Neurochir Pol; 2019; 53(5):369-376. PubMed ID: 31577365
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report.
    Wu S; Bai Z; Dong X; Yang D; Chen H; Hua J; Zhou L; Lv H
    BMC Pediatr; 2019 Aug; 19(1):289. PubMed ID: 31438894
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
    Wolf NI; Vanderver A; van Spaendonk RM; Schiffmann R; Brais B; Bugiani M; Sistermans E; Catsman-Berrevoets C; Kros JM; Pinto PS; Pohl D; Tirupathi S; Strømme P; de Grauw T; Fribourg S; Demos M; Pizzino A; Naidu S; Guerrero K; van der Knaap MS; Bernard G;
    Neurology; 2014 Nov; 83(21):1898-905. PubMed ID: 25339210
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in
    Mirchi A; Guay SP; Tran LT; Wolf NI; Vanderver A; Brais B; Sylvain M; Pohl D; Rossignol E; Saito M; Moutton S; González-Gutiérrez-Solana L; Thiffault I; Kruer MC; Moron DG; Kauffman M; Goizet C; Sztriha L; Glamuzina E; Melançon SB; Naidu S; Retrouvey JM; Lacombe S; Bernardino-Cuesta B; De Bie I; Bernard G
    J Med Genet; 2023 Oct; 60(10):1026-1034. PubMed ID: 37197783
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
    Thiffault I; Wolf NI; Forget D; Guerrero K; Tran LT; Choquet K; Lavallée-Adam M; Poitras C; Brais B; Yoon G; Sztriha L; Webster RI; Timmann D; van de Warrenburg BP; Seeger J; Zimmermann A; Máté A; Goizet C; Fung E; van der Knaap MS; Fribourg S; Vanderver A; Simons C; Taft RJ; Yates JR; Coulombe B; Bernard G
    Nat Commun; 2015 Jul; 6():7623. PubMed ID: 26151409
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.
    Battini R; Bertelloni S; Astrea G; Casarano M; Travaglini L; Baroncelli G; Pasquariello R; Bertini E; Cioni G
    BMC Med Genet; 2015 Jul; 16():53. PubMed ID: 26204956
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Biallelic pathogenic variants in
    Macintosh J; Perrier S; Pinard M; Tran LT; Guerrero K; Prasad C; Prasad AN; Pastinen T; Thiffault I; Coulombe B; Bernard G
    Front Neurol; 2023; 14():1254140. PubMed ID: 37915380
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The First Case of 4H Syndrome with Type 1 Diabetes Mellitus.
    Buyukyilmaz G; Erozan Cavdarlı B; Toksoy Adiguzel K; Adiguzel M; Kasapkara CS; Gurbuz F; Boyraz M; Gurkas E
    J Clin Res Pediatr Endocrinol; 2023 Mar; ():. PubMed ID: 36974356
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 8.