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 *

206 related articles for article (PubMed ID: 33558124)

  • 1. Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy.
    Schirwani S; Sarkozy A; Phadke R; Childs AM; Mein R; Ismail A; Smith A; Muntoni F; Hobson E; Pysden K
    Neuromuscul Disord; 2021 Apr; 31(4):359-366. PubMed ID: 33558124
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.
    Vogt J; Al-Saedi A; Willis T; Male A; McKie A; Kiely N; Maher ER
    Clin Genet; 2020 Jun; 97(6):908-914. PubMed ID: 32092148
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.
    Mroczek M; Kabzińska D; Chrzanowska KH; Pronicki M; Kochański A
    J Appl Genet; 2017 May; 58(2):199-203. PubMed ID: 27726070
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Myopathies associated with β-tropomyosin mutations.
    Tajsharghi H; Ohlsson M; Palm L; Oldfors A
    Neuromuscul Disord; 2012 Nov; 22(11):923-33. PubMed ID: 22749895
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
    Hakonen AH; Lehtonen J; Kivirikko S; Keski-Filppula R; Moilanen J; Kivisaari R; Almusa H; Jakkula E; Saarela J; Avela K; Aittomäki K
    Am J Med Genet A; 2020 Nov; 182(11):2605-2610. PubMed ID: 32902138
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Nonlethal multiple pterygium syndrome: Escobar syndrome.
    Bissinger RL; Koch FR
    Adv Neonatal Care; 2014 Feb; 14(1):24-9. PubMed ID: 24472885
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family.
    Sher G; Naeem M
    Genet Test Mol Biomarkers; 2018 Dec; 22(12):714-718. PubMed ID: 30461311
    [No Abstract]   [Full Text] [Related]  

  • 8. Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy.
    Monnier N; Lunardi J; Marty I; Mezin P; Labarre-Vila A; Dieterich K; Jouk PS
    Neuromuscul Disord; 2009 Feb; 19(2):118-23. PubMed ID: 19155175
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
    Marttila M; Lehtokari VL; Marston S; Nyman TA; Barnerias C; Beggs AH; Bertini E; Ceyhan-Birsoy O; Cintas P; Gerard M; Gilbert-Dussardier B; Hogue JS; Longman C; Eymard B; Frydman M; Kang PB; Klinge L; Kolski H; Lochmüller H; Magy L; Manel V; Mayer M; Mercuri E; North KN; Peudenier-Robert S; Pihko H; Probst FJ; Reisin R; Stewart W; Taratuto AL; de Visser M; Wilichowski E; Winer J; Nowak K; Laing NG; Winder TL; Monnier N; Clarke NF; Pelin K; Grönholm M; Wallgren-Pettersson C
    Hum Mutat; 2014 Jul; 35(7):779-90. PubMed ID: 24692096
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.
    Citirak G; Witting N; Duno M; Werlauff U; Petri H; Vissing J
    Neuromuscul Disord; 2014 Apr; 24(4):325-30. PubMed ID: 24507666
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Compound Heterozygous
    Janßen S; Erbe LS; Kneifel M; Vorgerd M; Döring K; Lubieniecki KP; Lubieniecka JM; Gerding WM; Casadei N; Güttsches AK; Heyer C; Lücke T; Nguyen HHP; Köhler C; Hoffjan S
    Int J Mol Sci; 2024 Oct; 25(19):. PubMed ID: 39409197
    [TBL] [Abstract][Full Text] [Related]  

  • 12. CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
    Carrera-García L; Natera-de Benito D; Dieterich K; de la Banda MGG; Felter A; Inarejos E; Codina A; Jou C; Roldan M; Palau F; Hoenicka J; Pijuan J; Ortez C; Expósito-Escudero J; Durand C; Nugues F; Jimenez-Mallebrera C; Colomer J; Carlier RY; Lochmüller H; Quijano-Roy S; Nascimento A
    Am J Med Genet A; 2019 Jun; 179(6):915-926. PubMed ID: 30868735
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.
    Li S; You Y; Gao J; Mao B; Cao Y; Zhao X; Zhang X
    BMC Med Genet; 2018 Oct; 19(1):179. PubMed ID: 30285720
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Mutation analysis for a Chinese family affected with Escobar syndrome by whole exome sequencing].
    Hu L; Li H; Luan Z; Xu X; Chen C; Wu K; Tang S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Apr; 34(2):209-212. PubMed ID: 28397220
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
    Davidson AE; Siddiqui FM; Lopez MA; Lunt P; Carlson HA; Moore BE; Love S; Born DE; Roper H; Majumdar A; Jayadev S; Underhill HR; Smith CO; von der Hagen M; Hubner A; Jardine P; Merrison A; Curtis E; Cullup T; Jungbluth H; Cox MO; Winder TL; Abdel Salam H; Li JZ; Moore SA; Dowling JJ
    Brain; 2013 Feb; 136(Pt 2):508-21. PubMed ID: 23413262
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene.
    Sung KH; Lee SH; Kim N; Cho TJ
    J Pediatr Orthop B; 2015 May; 24(3):262-7. PubMed ID: 25411939
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.
    Kariminejad A; Almadani N; Khoshaeen A; Olsson B; Moslemi AR; Tajsharghi H
    BMC Genet; 2016 May; 17(1):71. PubMed ID: 27245440
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
    Pollazzon M; Caraffi SG; Faccioli S; Rosato S; Fodstad H; Campos-Xavier B; Soncini E; Comitini G; Frattini D; Grimaldi T; Marinelli M; Martorana D; Percesepe A; Sassi S; Fusco C; Gargano G; Superti-Furga A; Garavelli L
    Genes (Basel); 2021 Dec; 13(1):. PubMed ID: 35052370
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Escobar syndrome with heterotaxia and esophageal atresia: case report.
    Martínez-Barrera LE; Morán-Barroso VF; Perezpeña-Díazconti M; Zuñiga-Rodríguez FG; Manzano-Sierra C; García-Delgado C
    Genet Couns; 2014; 25(3):321-30. PubMed ID: 25365855
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.
    Sandaradura SA; Bournazos A; Mallawaarachchi A; Cummings BB; Waddell LB; Jones KJ; Troedson C; Sudarsanam A; Nash BM; Peters GB; Algar EM; MacArthur DG; North KN; Brammah S; Charlton A; Laing NG; Wilson MJ; Davis MR; Cooper ST
    Hum Mutat; 2018 Mar; 39(3):383-388. PubMed ID: 29266598
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.