These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

171 related articles for article (PubMed ID: 35121649)

  • 1. Neurofibromatosis type 1 families with first-degree relatives harbouring distinct
    Garcia B; Catasus N; Ros A; Rosas I; Negro A; Guerrero-Murillo M; Valero AM; Duat-Rodriguez A; Becerra JL; Bonache S; Lázaro Garcia C; Comas C; Bielsa I; Serra E; Hernández-Chico C; Martin Y; Castellanos E; Blanco I
    J Med Genet; 2022 Oct; 59(10):1017-1023. PubMed ID: 35121649
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1.
    Chen L; Xue F; Xu J; He J; Fu W; Zhang Z; Kang Q
    Mol Genet Genomic Med; 2019 Sep; 7(9):e904. PubMed ID: 31347283
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.
    Palma Milla C; Lezana Rosales JM; López Montiel J; Andrés Garrido LD; Sánchez Linares C; Carmona Tamajón S; Torres Fernández C; Sánchez González P; Franco Freire S; Benito López C; López Siles J
    Ann Hum Genet; 2018 Nov; 82(6):425-436. PubMed ID: 30014477
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1.
    Yang L; Fu J; Cheng J; Zhou B; Chen M; Anuchapreeda S; Fu J
    BMC Med Genomics; 2023 Apr; 16(1):85. PubMed ID: 37095468
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis.
    Smith RB; Solem EP; Metz EC; Wheeler FC; Phillips JA; Yenamandra A
    Am J Med Genet A; 2021 Apr; 185(4):1222-1227. PubMed ID: 33415784
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Neurofibromatosis: the most frequent hereditary tumor predisposition syndrome].
    Wimmer K
    Wien Med Wochenschr; 2005 Jun; 155(11-12):273-80. PubMed ID: 16035388
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene.
    Stella A; Lastella P; Viggiano L; Bagnulo R; Resta N
    Hum Mutat; 2022 Oct; 43(10):1354-1360. PubMed ID: 35723633
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
    Riva M; Martorana D; Uliana V; Caleffi E; Boschi E; Garavelli L; Ponti G; Sangiorgi L; Graziano C; Bigoni S; Rocchetti LM; Madeo S; Soli F; Grosso E; Carli D; Goldoni M; Pisani F; Percesepe A
    Genes Chromosomes Cancer; 2022 Jan; 61(1):10-21. PubMed ID: 34427956
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling.
    Terzi YK; Oguzkan-Balci S; Anlar B; Aysun S; Guran S; Ayter S
    Genet Couns; 2009; 20(2):195-202. PubMed ID: 19650418
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Analysis of NF1 gene mutations among eleven sporadic patients with neurofibromatosis type 1].
    Peng C; Ma S; Tang X; Yang J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):480-483. PubMed ID: 30098238
    [TBL] [Abstract][Full Text] [Related]  

  • 11. One
    Pacot L; Burin des Roziers C; Laurendeau I; Briand-Suleau A; Coustier A; Mayard T; Tlemsani C; Faivre L; Thomas Q; Rodriguez D; Blesson S; Dollfus H; Muller YG; Parfait B; Vidaud M; Gilbert-Dussardier B; Yardin C; Dauriat B; Derancourt C; Vidaud D; Pasmant E
    Genes (Basel); 2019 Aug; 10(9):. PubMed ID: 31443423
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
    Messiaen L; Yao S; Brems H; Callens T; Sathienkijkanchai A; Denayer E; Spencer E; Arn P; Babovic-Vuksanovic D; Bay C; Bobele G; Cohen BH; Escobar L; Eunpu D; Grebe T; Greenstein R; Hachen R; Irons M; Kronn D; Lemire E; Leppig K; Lim C; McDonald M; Narayanan V; Pearn A; Pedersen R; Powell B; Shapiro LR; Skidmore D; Tegay D; Thiese H; Zackai EH; Vijzelaar R; Taniguchi K; Ayada T; Okamoto F; Yoshimura A; Parret A; Korf B; Legius E
    JAMA; 2009 Nov; 302(19):2111-8. PubMed ID: 19920235
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism.
    Trevisson E; Forzan M; Salviati L; Clementi M
    Clin Genet; 2014 Apr; 85(4):386-9. PubMed ID: 23621909
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
    Evans DG; Bowers N; Burkitt-Wright E; Miles E; Garg S; Scott-Kitching V; Penman-Splitt M; Dobbie A; Howard E; Ealing J; Vassalo G; Wallace AJ; Newman W; ; Huson SM
    EBioMedicine; 2016 May; 7():212-20. PubMed ID: 27322474
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants.
    Ece Solmaz A; Isik E; Atik T; Ozkinay F; Onay H
    Clin Neurol Neurosurg; 2021 Sep; 208():106884. PubMed ID: 34418705
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1.
    Xiao H; Yuan L; Xu H; Yang Z; Huang F; Song Z; Yang Y; Zeng C; Deng H
    J Mol Neurosci; 2018 Aug; 65(4):557-563. PubMed ID: 30046999
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Comprehensive Overview of NF1 Mutations in Iranian Patients.
    Savad S; Modarressi MH; Younesi S; Seifi-Alan M; Samadaian N; Masoomy M; Dianatpour M; Norouzi S; Amidi S; Boroumand A; Ashrafi MR; Ronagh A; Eslami M; Hashemnejad M; Nourian S; Mohammadi S; Taheri Amin MM; Heidari M; Seifi-Alan M; Shojaaldini Ardakani H; Aghamahdi F; Khalilian S; Ghafouri-Fard S
    Neuromolecular Med; 2024 Jul; 26(1):28. PubMed ID: 38954284
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
    D'Amico A; Rosano C; Pannone L; Pinna V; Assunto A; Motta M; Ugga L; Daniele P; Mandile R; Mariniello L; Siano MA; Santoro C; Piluso G; Martinelli S; Strisciuglio P; De Luca A; Tartaglia M; Melis D
    Clin Genet; 2021 Nov; 100(5):563-572. PubMed ID: 34346503
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Molecular diagnosis as a strategy for differential diagnosis and at early ages of neurofibromatosis type 1 (NF1)].
    Gómez M; Batista O
    Rev Med Chil; 2015 Oct; 143(10):1320-30. PubMed ID: 26633276
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The genetic spectrum of
    Chen S; Cheng H; Zhao G
    Neurosciences (Riyadh); 2024 Jul; 29(3):177-183. PubMed ID: 38981629
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.