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 *

219 related articles for article (PubMed ID: 18252226)

  • 1. Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
    Michalk A; Stricker S; Becker J; Rupps R; Pantzar T; Miertus J; Botta G; Naretto VG; Janetzki C; Yaqoob N; Ott CE; Seelow D; Wieczorek D; Fiebig B; Wirth B; Hoopmann M; Walther M; Körber F; Blankenburg M; Mundlos S; Heller R; Hoffmann K
    Am J Hum Genet; 2008 Feb; 82(2):464-76. PubMed ID: 18252226
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
    Vogt J; Harrison BJ; Spearman H; Cossins J; Vermeer S; ten Cate LN; Morgan NV; Beeson D; Maher ER
    Am J Hum Genet; 2008 Jan; 82(1):222-7. PubMed ID: 18179903
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Germline mutation in DOK7 associated with fetal akinesia deformation sequence.
    Vogt J; Morgan NV; Marton T; Maxwell S; Harrison BJ; Beeson D; Maher ER
    J Med Genet; 2009 May; 46(5):338-40. PubMed ID: 19261599
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.
    Hoffmann K; Muller JS; Stricker S; Megarbane A; Rajab A; Lindner TH; Cohen M; Chouery E; Adaimy L; Ghanem I; Delague V; Boltshauser E; Talim B; Horvath R; Robinson PN; Lochmüller H; Hübner C; Mundlos S
    Am J Hum Genet; 2006 Aug; 79(2):303-12. PubMed ID: 16826520
    [TBL] [Abstract][Full Text] [Related]  

  • 6. MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
    Wilbe M; Ekvall S; Eurenius K; Ericson K; Casar-Borota O; Klar J; Dahl N; Ameur A; Annerén G; Bondeson ML
    J Med Genet; 2015 Mar; 52(3):195-202. PubMed ID: 25612909
    [TBL] [Abstract][Full Text] [Related]  

  • 7. CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.
    Müller JS; Baumeister SK; Schara U; Cossins J; Krause S; von der Hagen M; Huebner A; Webster R; Beeson D; Lochmüller H; Abicht A
    Brain; 2006 Oct; 129(Pt 10):2784-93. PubMed ID: 16916845
    [TBL] [Abstract][Full Text] [Related]  

  • 8. CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.
    Vogt J; Morgan NV; Rehal P; Faivre L; Brueton LA; Becker K; Fryns JP; Holder S; Islam L; Kivuva E; Lynch SA; Touraine R; Wilson LC; MacDonald F; Maher ER
    J Med Genet; 2012 Jan; 49(1):21-6. PubMed ID: 22167768
    [TBL] [Abstract][Full Text] [Related]  

  • 9. End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.
    Croxen R; Young C; Slater C; Haslam S; Brydson M; Vincent A; Beeson D
    Brain; 2001 Jul; 124(Pt 7):1362-72. PubMed ID: 11408331
    [TBL] [Abstract][Full Text] [Related]  

  • 10. CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.
    Freed AS; Schwarz AC; Brei BK; Clowes Candadai SV; Thies J; Mah JK; Chabra S; Wang L; Innes AM; Bennett JT
    Am J Med Genet A; 2021 Mar; 185(3):827-835. PubMed ID: 33296147
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.
    McKie AB; Alsaedi A; Vogt J; Stuurman KE; Weiss MM; Shakeel H; Tee L; Morgan NV; Nikkels PG; van Haaften G; Park SM; van der Smagt JJ; Bugiani M; Maher ER
    Acta Neuropathol Commun; 2014 Dec; 2():148. PubMed ID: 25476234
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review.
    Chen CP
    Taiwan J Obstet Gynecol; 2012 Mar; 51(1):12-7. PubMed ID: 22482962
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
    Morgan NV; Brueton LA; Cox P; Greally MT; Tolmie J; Pasha S; Aligianis IA; van Bokhoven H; Marton T; Al-Gazali L; Morton JE; Oley C; Johnson CA; Trembath RC; Brunner HG; Maher ER
    Am J Hum Genet; 2006 Aug; 79(2):390-5. PubMed ID: 16826531
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene.
    Bonanno C; Rodolico C; Töpf A; Foti FM; Liu WW; Beeson D; Toscano A; Lochmüller H
    Neuromuscul Disord; 2020 Apr; 30(4):336-339. PubMed ID: 32360402
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
    Tan-Sindhunata MB; Mathijssen IB; Smit M; Baas F; de Vries JI; van der Voorn JP; Kluijt I; Hagen MA; Blom EW; Sistermans E; Meijers-Heijboer H; Waisfisz Q; Weiss MM; Groffen AJ
    Eur J Hum Genet; 2015 Sep; 23(9):1151-7. PubMed ID: 25537362
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.
    Müller JS; Baumeister SK; Rasic VM; Krause S; Todorovic S; Kugler K; Müller-Felber W; Abicht A; Lochmüller H
    Neurology; 2006 Oct; 67(7):1159-64. PubMed ID: 16931511
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits.
    Azuma Y; Nakata T; Tanaka M; Shen XM; Ito M; Iwata S; Okuno T; Nomura Y; Ando N; Ishigaki K; Ohkawara B; Masuda A; Natsume J; Kojima S; Sokabe M; Ohno K
    Neuromuscul Disord; 2015 Jan; 25(1):60-9. PubMed ID: 25264167
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome.
    Kodaganur SG; Tontanahal SJ; Sarda A; Shah MH; Bhat V; Kumar A
    Clin Dysmorphol; 2013 Apr; 22(2):54-58. PubMed ID: 23448903
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.
    Yasaki E; Prioleau C; Barbier J; Richard P; Andreux F; Leroy JP; Dartevelle P; Koenig J; Molgó J; Fardeau M; Eymard B; Hantaï D
    Neuromuscul Disord; 2004 Jan; 14(1):24-32. PubMed ID: 14659409
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome.
    Abicht A; Stucka R; Schmidt C; Briguet A; Höpfner S; Song IH; Pongratz D; Müller-Felber W; Ruegg MA; Lochmüller H
    Brain; 2002 May; 125(Pt 5):1005-13. PubMed ID: 11960891
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.