BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

220 related articles for article (PubMed ID: 35052370)

  • 21. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.
    Beck AE; McMillin MJ; Gildersleeve HI; Kezele PR; Shively KM; Carey JC; Regnier M; Bamshad MJ
    Am J Med Genet A; 2013 Mar; 161A(3):550-5. PubMed ID: 23401156
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
    Ravenscroft G; Thompson EM; Todd EJ; Yau KS; Kresoje N; Sivadorai P; Friend K; Riley K; Manton ND; Blumbergs P; Fietz M; Duff RM; Davis MR; Allcock RJ; Laing NG
    Neuromuscul Disord; 2013 Feb; 23(2):165-9. PubMed ID: 23218673
    [TBL] [Abstract][Full Text] [Related]  

  • 23. The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.
    Dahan-Oliel N; Dieterich K; Rauch F; Bardai G; Blondell TN; Gustafson AG; Hamdy R; Latypova X; Shazand K; Giampietro PF; van Bosse H
    Genes (Basel); 2021 Aug; 12(8):. PubMed ID: 34440395
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Multiple Pterygium Syndrome (Escobar Syndrome): A Rare Form of Prenatal Myasthenia Presenting With Arthrogryposis Multiplex Congenita.
    Manjunathan S; Singh K; Saini L
    Neurology; 2024 Jul; 103(2):e209602. PubMed ID: 38870465
    [No Abstract]   [Full Text] [Related]  

  • 26. Is webbing (pterygia) a constant feature in patients with Escobar syndrome?
    Al Kaissi A; Kenis V; Laptiev S; Ghachem MB; Klaushofer K; Ganger R; Grill F
    Orthop Surg; 2013 Nov; 5(4):297-301. PubMed ID: 24254455
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies.
    Ahmed AA; Skaria P; Safina NP; Thiffault I; Kats A; Taboada E; Habeebu S; Saunders C
    Am J Med Genet A; 2018 Feb; 176(2):359-367. PubMed ID: 29274205
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.
    Kamien B; Clayton JS; Lee HS; Abeysuriya D; McNamara E; Martinovic J; Gonzales M; Melki J; Ravenscroft G
    Neuromuscul Disord; 2022 May; 32(5):445-449. PubMed ID: 35484034
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Multiple pterygium syndrome: mimicking the findings of Turner syndrome.
    Güven A; Kirmizibekmez H
    J Pediatr Endocrinol Metab; 2011; 24(11-12):1089-93. PubMed ID: 22308873
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.
    Patil SJ; Rai GK; Bhat V; Ramesh VA; Nagarajaram HA; Matalia J; Phadke SR
    Am J Med Genet A; 2014 Nov; 164A(11):2857-62. PubMed ID: 25099528
    [TBL] [Abstract][Full Text] [Related]  

  • 31. AMC: amyoplasia and distal arthrogryposis.
    Kimber E
    J Child Orthop; 2015 Dec; 9(6):427-32. PubMed ID: 26537820
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Genetic aspects of arthrogryposis.
    Hall JG
    Clin Orthop Relat Res; 1985 Apr; (194):44-53. PubMed ID: 3978933
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Familial Gordon syndrome associated with a PIEZO2 mutation.
    Alisch F; Weichert A; Kalache K; Paradiso V; Longardt AC; Dame C; Hoffmann K; Horn D
    Am J Med Genet A; 2017 Jan; 173(1):254-259. PubMed ID: 27714920
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene.
    Abdalla E; Ravenscroft G; Zayed L; Beecroft SJ; Laing NG
    Neuromuscul Disord; 2017 Jun; 27(6):537-541. PubMed ID: 28336317
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
    Ravenscroft G; Clayton JS; Faiz F; Sivadorai P; Milnes D; Cincotta R; Moon P; Kamien B; Edwards M; Delatycki M; Lamont PJ; Chan SH; Colley A; Ma A; Collins F; Hennington L; Zhao T; McGillivray G; Ghedia S; Chao K; O'Donnell-Luria A; Laing NG; Davis MR
    J Med Genet; 2021 Sep; 58(9):609-618. PubMed ID: 33060286
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter.
    Krakowiak PA; O'Quinn JR; Bohnsack JF; Watkins WS; Carey JC; Jorde LB; Bamshad M
    Am J Hum Genet; 1997 Feb; 60(2):426-32. PubMed ID: 9012416
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.
    Wang WB; Kong LC; Zuo RT; Kang QL
    Mol Med Rep; 2020 Jan; 21(1):438-444. PubMed ID: 31746383
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.
    Jamsheer A; Henggeler C; Wierzba J; Loeys B; De Paepe A; Stheneur Ch; Badziag N; Matuszewska K; Matyas G; Latos-Bielenska A
    J Appl Genet; 2009; 50(4):405-10. PubMed ID: 19875893
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.
    Seo J; Choi IH; Lee JS; Yoo Y; Kim NK; Choi M; Ko JM; Shin YB
    J Hum Genet; 2015 Apr; 60(4):213-5. PubMed ID: 25608830
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Fetal Escobar syndrome--a case report].
    Olejniczak T; Niepsuj-Biniaś J; Rabiega-Gmyrek D; Guglas-Bochyńska B; Opala T
    Ginekol Pol; 2014 Aug; 85(8):629-32. PubMed ID: 25219146
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.