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 *

199 related articles for article (PubMed ID: 32447396)

  • 21. Implications of combined
    Nomani H; Deng Z; Navetta-Modrov B; Yang J; Yun M; Aroniadis O; Gorevic P; Aksentijevich I; Yao Q
    Front Immunol; 2023; 14():1265404. PubMed ID: 37928541
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.
    Bradshaw G; Lualhati RR; Albury CL; Maksemous N; Roos-Araujo D; Smith RA; Benton MC; Eccles DA; Lea RA; Sutherland HG; Haupt LM; Griffiths LR
    Front Immunol; 2018; 9():420. PubMed ID: 29556235
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Cohort-driven variant burden analysis and pathogenicity identification in monogenic autoinflammatory disorders.
    Chen X; Yu X
    J Allergy Clin Immunol; 2023 Aug; 152(2):517-527. PubMed ID: 37030591
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity.
    Okano T; Imai K; Naruto T; Okada S; Yamashita M; Yeh TW; Ono S; Tanaka K; Okamoto K; Tanita K; Matsumoto K; Toyofuku E; Kumaki-Matsumoto E; Okamura M; Ueno H; Ogawa S; Ohara O; Takagi M; Kanegane H; Morio T
    J Clin Immunol; 2020 Jul; 40(5):729-740. PubMed ID: 32506361
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.
    Rudilla F; Franco-Jarava C; Martínez-Gallo M; Garcia-Prat M; Martín-Nalda A; Rivière J; Aguiló-Cucurull A; Mongay L; Vidal F; Solanich X; Irastorza I; Santos-Pérez JL; Tercedor Sánchez J; Cuscó I; Serra C; Baz-Redón N; Fernández-Cancio M; Carreras C; Vagace JM; Garcia-Patos V; Pujol-Borrell R; Soler-Palacín P; Colobran R
    Front Immunol; 2019; 10():2325. PubMed ID: 31681265
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center.
    Peet CJ; Rowczenio D; Omoyinmi E; Papadopoulou C; Mapalo BRR; Wood MR; Capon F; Lachmann HJ
    J Am Heart Assoc; 2022 Jun; 11(11):e024931. PubMed ID: 35658515
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Systematic genetic analysis of pediatric patients with autoinflammatory diseases.
    Poker Y; von Hardenberg S; Hofmann W; Tang M; Baumann U; Schwerk N; Wetzke M; Lindenthal V; Auber B; Schlegelberger B; Ott H; von Bismarck P; Viemann D; Dressler F; Klemann C; Bergmann AK
    Front Genet; 2023; 14():1065907. PubMed ID: 36777733
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India.
    Yenamandra VK; Vellarikkal SK; Kumar M; Chowdhury MR; Jayarajan R; Verma A; Scaria V; Sivasubbu S; Ray SB; Dinda AK; Kabra M; Kaur P; Sharma VK; Sethuraman G
    J Dermatol Sci; 2017 Apr; 86(1):30-36. PubMed ID: 28087116
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.
    Amiri-Yekta A; Coutton C; Kherraf ZE; Karaouzène T; Le Tanno P; Sanati MH; Sabbaghian M; Almadani N; Sadighi Gilani MA; Hosseini SH; Bahrami S; Daneshipour A; Bini M; Arnoult C; Colombo R; Gourabi H; Ray PF
    Hum Reprod; 2016 Dec; 31(12):2872-2880. PubMed ID: 27798045
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.
    Montaut S; Tranchant C; Drouot N; Rudolf G; Guissart C; Tarabeux J; Stemmelen T; Velt A; Fourrage C; Nitschké P; Gerard B; Mandel JL; Koenig M; Chelly J; Anheim M;
    JAMA Neurol; 2018 Oct; 75(10):1234-1245. PubMed ID: 29913018
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
    Tsang MHY; Chiu ATG; Kwong BMH; Liang R; Yu MHC; Yeung KS; Ho WHL; Mak CCY; Leung GKC; Pei SLC; Fung JLF; Wong VCN; Muntoni F; Chung BHY; Chan SHS
    Mol Genet Genomic Med; 2020 May; 8(5):e1205. PubMed ID: 32154989
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.
    Crowley E; Warner N; Pan J; Khalouei S; Elkadri A; Fiedler K; Foong J; Turinsky AL; Bronte-Tinkew D; Zhang S; Hu J; Tian D; Li D; Horowitz J; Siddiqui I; Upton J; Roifman CM; Church PC; Wall DA; Ramani AK; Kotlarz D; Klein C; Uhlig H; Snapper SB; Gonzaga-Jauregui C; Paterson AD; McGovern DPB; Brudno M; Walters TD; Griffiths AM; Muise AM
    Gastroenterology; 2020 Jun; 158(8):2208-2220. PubMed ID: 32084423
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
    Fichna JP; Macias A; Piechota M; Korostyński M; Potulska-Chromik A; Redowicz MJ; Zekanowski C
    Hum Genomics; 2018 Jul; 12(1):34. PubMed ID: 29970176
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Phenotypes and genotypes of Chinese adult patients with systemic autoinflammatory diseases.
    Hua Y; Wu D; Shen M; Yu K; Zhang W; Zeng X
    Semin Arthritis Rheum; 2019 Dec; 49(3):446-452. PubMed ID: 31155445
    [TBL] [Abstract][Full Text] [Related]  

  • 35. ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
    Shinar Y; Ceccherini I; Rowczenio D; Aksentijevich I; Arostegui J; Ben-Chétrit E; Boursier G; Gattorno M; Hayrapetyan H; Ida H; Kanazawa N; Lachmann HJ; Mensa-Vilaro A; Nishikomori R; Oberkanins C; Obici L; Ohara O; Ozen S; Sarkisian T; Sheils K; Wolstenholme N; Zonneveld-Huijssoon E; van Gijn ME; Touitou I
    Clin Chem; 2020 Apr; 66(4):525-536. PubMed ID: 32176780
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Whole-exome sequencing to identify undiagnosed primary immunodeficiency disorders in children with community-acquired sepsis, admitted in the pediatric intensive care unit.
    Rayzan E; Mirbeyk M; Pezeshki PS; Mohammadpour M; Yaghmaie B; Hassani SA; Sharifzadeh M; Tahernia L; Rezaei N
    Pediatr Allergy Immunol; 2023 Dec; 34(12):e14066. PubMed ID: 38146112
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders.
    Kostik MM; Suspitsin EN; Guseva MN; Levina AS; Kazantseva AY; Sokolenko AP; Imyanitov EN
    Rheumatol Int; 2018 May; 38(5):887-893. PubMed ID: 29500522
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Comparison of clinical parameters with whole exome sequencing analysis results of autosomal recessive patients; a center experience.
    Elmas M; Yıldız H; Erdoğan M; Gogus B; Avcı K; Solak M
    Mol Biol Rep; 2019 Feb; 46(1):287-299. PubMed ID: 30426380
    [TBL] [Abstract][Full Text] [Related]  

  • 39. No shortcuts: new findings reinforce why nuance is the rule in genetic autoinflammatory syndromes.
    Tsoukas P; Canna SW
    Curr Opin Rheumatol; 2017 Sep; 29(5):506-515. PubMed ID: 28604422
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.
    Wong KHY; Levy-Sakin M; Ma W; Gonzaludo N; Mak ACY; Vaka D; Poon A; Chu C; Lao R; Balamir M; Grenville Z; Wong N; Kane JP; Kwok PY; Malloy MJ; Pullinger CR
    Mol Genet Genomic Med; 2019 Dec; 7(12):e1007. PubMed ID: 31617323
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.