BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 34414661)

  • 1. The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.
    Heikoop D; Brick L; Chitayat D; Colaiacovo S; Dupuis L; Faghfoury H; Goobie S; Mendoza R; Napier M; Nowaczyk M; Oh R; Silver J; Prasad C; Saleh M
    Am J Med Genet A; 2021 Dec; 185(12):3793-3803. PubMed ID: 34414661
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Wilms tumor in patients with osteopathia striata with cranial sclerosis.
    Bach A; Mi J; Hunter M; Halliday BJ; García-Miñaúr S; Sperotto F; Trevisson E; Markie D; Morison IM; Shinawi M; Willis DN; Robertson SP
    Eur J Hum Genet; 2021 Mar; 29(3):396-401. PubMed ID: 32879452
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Deletion of Exon 1 in
    Mi J; Parthasarathy P; Halliday BJ; Morgan T; Dean J; Nowaczyk MJM; Markie D; Robertson SP; Wade EM
    Genes (Basel); 2020 Nov; 11(12):. PubMed ID: 33265914
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma.
    Fujita A; Ochi N; Fujimaki H; Muramatsu H; Takahashi Y; Natsume J; Kojima S; Nakashima M; Tsurusaki Y; Saitsu H; Matsumoto N; Miyake N
    Am J Med Genet A; 2014 Apr; 164A(4):998-1002. PubMed ID: 24459086
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene.
    Serra G; Antona V; Di Pace MR; Giuffrè M; Morgante G; Piro E; Pirrello R; Salerno S; Schierz IAM; Verde V; Corsello G
    Ital J Pediatr; 2022 Dec; 48(1):206. PubMed ID: 36581928
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Mosaic Variant in CTNNB1/β-catenin as a Novel Cause for Osteopathia Striata With Cranial Sclerosis.
    Huybrechts Y; Appelman-Dijkstra NM; Steenackers E; Van Beylen W; Mortier G; Hendrickx G; Van Hul W
    J Clin Endocrinol Metab; 2024 Jun; 109(7):1891-1898. PubMed ID: 38173341
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The male phenotype in osteopathia striata congenita with cranial sclerosis.
    Holman SK; Daniel P; Jenkins ZA; Herron RL; Morgan T; Savarirayan R; Chow CW; Bohring A; Mosel A; Lacombe D; Steiner B; Schmitt-Mechelke T; Schroter B; Raas-Rothschild A; Miñaur SG; Porteous M; Parker M; Quarrell O; Tapon D; Cormier-Daire V; Mansour S; Nash R; Bindoff LA; Fiskerstrand T; Robertson SP
    Am J Med Genet A; 2011 Oct; 155A(10):2397-408. PubMed ID: 22043478
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.
    Perdu B; Lakeman P; Mortier G; Koenig R; Lachmeijer AM; Van Hul W
    Clin Genet; 2011 Oct; 80(4):383-8. PubMed ID: 20950377
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus.
    Holman SK; Morgan T; Baujat G; Cormier-Daire V; Cho TJ; Lees M; Samanich J; Tapon D; Hove HD; Hing A; Hennekam R; Robertson SP
    Clin Genet; 2013 Mar; 83(3):251-6. PubMed ID: 22670894
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic and Molecular Insights Into Genotype-Phenotype Relationships in Osteopathia Striata With Cranial Sclerosis (OSCS) Through the Analysis of Novel Mouse Wtx Mutant Alleles.
    Comai G; Boutet A; Tanneberger K; Massa F; Rocha AS; Charlet A; Panzolini C; Jian Motamedi F; Brommage R; Hans W; Funck-Brentano T; Hrabe de Angelis M; Hartmann C; Cohen-Solal M; Behrens J; Schedl A
    J Bone Miner Res; 2018 May; 33(5):875-887. PubMed ID: 29329488
    [TBL] [Abstract][Full Text] [Related]  

  • 11. First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome.
    Fradin M; Collet C; Ract I; Odent S; Guggenbuhl P
    Joint Bone Spine; 2017 Jan; 84(1):87-90. PubMed ID: 27369646
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion.
    Herman SB; Holman SK; Robertson SP; Davidson L; Taragin B; Samanich J
    Am J Med Genet A; 2013 Mar; 161A(3):594-9. PubMed ID: 23401208
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Osteopathia striata with cranial sclerosis owing to WTX gene defect.
    Perdu B; de Freitas F; Frints SG; Schouten M; Schrander-Stumpel C; Barbosa M; Pinto-Basto J; Reis-Lima M; de Vernejoul MC; Becker K; Freckmann ML; Keymolen K; Haan E; Savarirayan R; Koenig R; Zabel B; Vanhoenacker FM; Van Hul W
    J Bone Miner Res; 2010 Jan; 25(1):82-90. PubMed ID: 20209645
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Germline mosaicism in osteopathia striata with cranial sclerosis--recurrence in siblings.
    O'Byrne JJ; Phelan E; Steenackers E; van Hul W; Reardon W
    Clin Dysmorphol; 2016 Apr; 25(2):45-9. PubMed ID: 26886897
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis.
    Enomoto Y; Tsurusaki Y; Harada N; Aida N; Kurosawa K
    Congenit Anom (Kyoto); 2018 Jul; 58(4):145-146. PubMed ID: 28990699
    [No Abstract]   [Full Text] [Related]  

  • 16. Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS.
    Abu-El-Haija A; Dillahunt K; Safina N; Aldeeri A; Glavan T; Mihalek I; Shinawi M
    Am J Med Genet A; 2024 May; ():e63709. PubMed ID: 38801192
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.
    Hague J; Delon I; Brugger K; Martin H; Sparnon L; Simonic I; Abbs S; Park SM
    Am J Med Genet A; 2017 Jul; 173(7):1931-1935. PubMed ID: 28497491
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2.
    Chénier S; Noor A; Dupuis L; Stavropoulos DJ; Mendoza-Londono R
    Am J Med Genet A; 2012 Nov; 158A(11):2946-52. PubMed ID: 22987541
    [TBL] [Abstract][Full Text] [Related]  

  • 19. High bone mass due to novel LRP5 and AMER1 mutations.
    Costantini A; Kekäläinen P; Mäkitie RE; Mäkitie O
    Eur J Med Genet; 2017 Dec; 60(12):675-679. PubMed ID: 28893644
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 8.