BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

101 related articles for article (PubMed ID: 38779778)

  • 1. Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.
    Tucker EJ; Sharp MF; Lokchine A; Bell KM; Palmer CS; Kline BL; Robevska G; van den Bergen J; Dulon J; Stojanovski D; Ayers KL; Touraine P; Crismani W; Jaillard S; Sinclair AH
    Clin Genet; 2024 May; ():. PubMed ID: 38779778
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Rare variants in FANCA induce premature ovarian insufficiency.
    Yang X; Zhang X; Jiao J; Zhang F; Pan Y; Wang Q; Chen Q; Cai B; Tang S; Zhou Z; Chen S; Yin H; Fu W; Luo Y; Li D; Li G; Shang L; Yang J; Jin L; Shi Q; Wu Y
    Hum Genet; 2019 Dec; 138(11-12):1227-1236. PubMed ID: 31535215
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A heterozygous hypomorphic mutation of Fanca causes impaired follicle development and subfertility in female mice.
    Pan Y; Yang X; Zhang F; Chen S; Zhou Z; Yin H; Ma H; Shang L; Yang J; Li G; Wang Y; Jin L; Shi Q; Wu Y
    Mol Genet Genomics; 2021 Jan; 296(1):103-112. PubMed ID: 33025164
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The utility of multiple genomic technologies for interpretation of modern next generation sequencing: A novel case of three FANCA gene variants resulting in autosomal recessive Fanconi anaemia.
    Coleman J; Green AJ; Bradley L
    Blood Cells Mol Dis; 2023 Sep; 102():102762. PubMed ID: 37276838
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Quantitative PCR analysis reveals a high incidence of large intragenic deletions in the FANCA gene in Spanish Fanconi anemia patients.
    Callén E; Tischkowitz MD; Creus A; Marcos R; Bueren JA; Casado JA; Mathew CG; Surrallés J
    Cytogenet Genome Res; 2004; 104(1-4):341-5. PubMed ID: 15162062
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of novel biallelic variants in BMP15 in two siblings with premature ovarian insufficiency.
    Zhang T; Ma Q; Shen Q; Jiang C; Zou F; Shen Y; Wang Y
    J Assist Reprod Genet; 2022 Sep; 39(9):2125-2134. PubMed ID: 35861920
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
    Bogliolo M; Pujol R; Aza-Carmona M; Muñoz-Subirana N; Rodriguez-Santiago B; Casado JA; Rio P; Bauser C; Reina-Castillón J; Lopez-Sanchez M; Gonzalez-Quereda L; Gallano P; Catalá A; Ruiz-Llobet A; Badell I; Diaz-Heredia C; Hladun R; Senent L; Argiles B; Bergua Burgues JM; Bañez F; Arrizabalaga B; López Almaraz R; Lopez M; Figuera Á; Molinés A; Pérez de Soto I; Hernando I; Muñoz JA; Del Rosario Marin M; Balmaña J; Stjepanovic N; Carrasco E; Cuesta I; Cosuelo JM; Regueiro A; Moraleda Jimenez J; Galera-Miñarro AM; Rosiñol L; Carrió A; Beléndez-Bieler C; Escudero Soto A; Cela E; de la Mata G; Fernández-Delgado R; Garcia-Pardos MC; Sáez-Villaverde R; Barragaño M; Portugal R; Lendinez F; Hernadez I; Vagace JM; Tapia M; Nieto J; Garcia M; Gonzalez M; Vicho C; Galvez E; Valiente A; Antelo ML; Ancliff P; Garcia F; Dopazo J; Sevilla J; Paprotka T; Pérez-Jurado LA; Bueren J; Surralles J
    J Med Genet; 2020 Apr; 57(4):258-268. PubMed ID: 31586946
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Homozygous hypomorphic
    Caburet S; Heddar A; Dardillac E; Creux H; Lambert M; Messiaen S; Tourpin S; Livera G; Lopez BS; Misrahi M
    J Med Genet; 2020 Jun; ():. PubMed ID: 32482800
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The neglected members of the family: non-BRCA mutations in the Fanconi anemia/BRCA pathway and reproduction.
    Vanni VS; Campo G; Cioffi R; Papaleo E; Salonia A; Viganò P; Lambertini M; Candiani M; Meirow D; Orvieto R
    Hum Reprod Update; 2022 Feb; 28(2):296-311. PubMed ID: 35043201
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Esophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphic
    Lach FP; Singh S; Rickman KA; Ruiz PD; Noonan RJ; Hymes KB; DeLacure MD; Kennedy JA; Chandrasekharappa SC; Smogorzewska A
    Cold Spring Harb Mol Case Stud; 2020 Dec; 6(6):. PubMed ID: 33172906
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
    Kimble DC; Lach FP; Gregg SQ; Donovan FX; Flynn EK; Kamat A; Young A; Vemulapalli M; Thomas JW; Mullikin JC; Auerbach AD; Smogorzewska A; Chandrasekharappa SC
    Hum Mutat; 2018 Feb; 39(2):237-254. PubMed ID: 29098742
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Homozygous missense variant in MEIOSIN causes premature ovarian insufficiency.
    Zhang Q; Zhang W; Wu X; Ke H; Qin Y; Zhao S; Guo T
    Hum Reprod; 2023 Nov; 38(Supplement_2):ii47-ii56. PubMed ID: 37982418
    [TBL] [Abstract][Full Text] [Related]  

  • 13. FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia.
    Ramanagoudr-Bhojappa R; Tryon R; Lach FP; Donovan FX; Maxwell R; Rosenberg A; MacMillan ML; Wagner JE; Auerbach AD; Smogorzewska A; Chandrasekharappa SC
    Blood Adv; 2024 Feb; 8(4):899-908. PubMed ID: 38191666
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency.
    Kline BL; Jaillard S; Bell KM; Bakhshalizadeh S; Robevska G; van den Bergen J; Dulon J; Ayers KL; Christodoulou J; Tchan MC; Touraine P; Sinclair AH; Tucker EJ
    Genes (Basel); 2022 Nov; 13(11):. PubMed ID: 36421788
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.
    de Winter JP; van der Weel L; de Groot J; Stone S; Waisfisz Q; Arwert F; Scheper RJ; Kruyt FA; Hoatlin ME; Joenje H
    Hum Mol Genet; 2000 Nov; 9(18):2665-74. PubMed ID: 11063725
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.
    Sassi A; Désir J; Duerinckx S; Soblet J; Van Dooren S; Bonduelle M; Abramowicz M; Delbaere A
    Mol Genet Genomic Med; 2021 Oct; 9(10):e1776. PubMed ID: 34480423
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Research progress of the Fanconi anemia pathway and premature ovarian insufficiency†.
    Zhao J; Zhang Y; Li W; Yao M; Liu C; Zhang Z; Wang C; Wang X; Meng K
    Biol Reprod; 2023 Nov; 109(5):570-585. PubMed ID: 37669135
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.
    Bestetti I; Barbieri C; Sironi A; Specchia V; Yatsenko SA; De Donno MD; Caslini C; Gentilini D; Crippa M; Larizza L; Marozzi A; Rajkovic A; Toniolo D; Bozzetti MP; Finelli P
    Hum Reprod; 2021 Oct; 36(11):2975-2991. PubMed ID: 34480478
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
    Tucker EJ; Gutfreund N; Belaud-Rotureau MA; Gilot D; Brun T; Kline BL; Bell KM; Domin-Bernhard M; Théard C; Touraine P; Robevska G; van van den Bergen J; Ayers KL; Sinclair AH; Dötsch V; Jaillard S
    Hum Mutat; 2022 Oct; 43(10):1443-1453. PubMed ID: 35801529
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants.
    Adachi D; Oda T; Yagasaki H; Nakasato K; Taniguchi T; D'Andrea AD; Asano S; Yamashita T
    Hum Mol Genet; 2002 Dec; 11(25):3125-34. PubMed ID: 12444097
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.