BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

426 related articles for article (PubMed ID: 33060286)

  • 1. 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]  

  • 2. Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.
    Winters L; Van Hoof E; De Catte L; Van Den Bogaert K; de Ravel T; De Waele L; Corveleyn A; Breckpot J
    Eur J Paediatr Neurol; 2017 Sep; 21(5):745-753. PubMed ID: 28495245
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
    Laquerriere A; Jaber D; Abiusi E; Maluenda J; Mejlachowicz D; Vivanti A; Dieterich K; Stoeva R; Quevarec L; Nolent F; Biancalana V; Latour P; Sternberg D; Capri Y; Verloes A; Bessieres B; Loeuillet L; Attie-Bitach T; Martinovic J; Blesson S; Petit F; Beneteau C; Whalen S; Marguet F; Bouligand J; Héron D; Viot G; Amiel J; Amram D; Bellesme C; Bucourt M; Faivre L; Jouk PS; Khung S; Sigaudy S; Delezoide AL; Goldenberg A; Jacquemont ML; Lambert L; Layet V; Lyonnet S; Munnich A; Van Maldergem L; Piard J; Guimiot F; Landrieu P; Letard P; Pelluard F; Perrin L; Saint-Frison MH; Topaloglu H; Trestard L; Vincent-Delorme C; Amthor H; Barnerias C; Benachi A; Bieth E; Boucher E; Cormier-Daire V; Delahaye-Duriez A; Desguerre I; Eymard B; Francannet C; Grotto S; Lacombe D; Laffargue F; Legendre M; Martin-Coignard D; Mégarbané A; Mercier S; Nizon M; Rigonnot L; Prieur F; Quélin C; Ranjatoelina-Randrianaivo H; Resta N; Toutain A; Verhelst H; Vincent M; Colin E; Fallet-Bianco C; Granier M; Grigorescu R; Saada J; Gonzales M; Guiochon-Mantel A; Bessereau JL; Tawk M; Gut I; Gitiaux C; Melki J
    J Med Genet; 2022 Jun; 59(6):559-567. PubMed ID: 33820833
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.
    Enya T; Okamoto N; Iba Y; Miyazawa T; Okada M; Ida S; Naruto T; Imoto I; Fujita A; Miyake N; Matsumoto N; Sugimoto K; Takemura T
    Am J Med Genet A; 2018 Mar; 176(3):707-711. PubMed ID: 29359444
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetics of neuromuscular fetal akinesia in the genomics era.
    Beecroft SJ; Lombard M; Mowat D; McLean C; Cairns A; Davis M; Laing NG; Ravenscroft G
    J Med Genet; 2018 Aug; 55(8):505-514. PubMed ID: 29959180
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
    Ekhilevitch N; Kurolap A; Oz-Levi D; Mory A; Hershkovitz T; Ast G; Mandel H; Baris HN
    Clin Genet; 2016 Jul; 90(1):84-9. PubMed ID: 26661508
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A homozygous TTN gene variant associated with lethal congenital contracture syndrome.
    Chervinsky E; Khayat M; Soltsman S; Habiballa H; Elpeleg O; Shalev S
    Am J Med Genet A; 2018 Apr; 176(4):1001-1005. PubMed ID: 29575618
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Fetal akinesia: The application of clinical exome sequencing in cases with decreased fetal movement.
    Cao Q; Yang Y; Pan M; Han J; Yang X; Li DZ
    Eur J Obstet Gynecol Reprod Biol; 2021 May; 260():59-63. PubMed ID: 33743358
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle.
    Agerholm JS; McEvoy FJ; Menzi F; Jagannathan V; Drögemüller C
    BMC Genomics; 2016 Jun; 17():479. PubMed ID: 27364156
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.
    Watson CM; Crinnion LA; Murphy H; Newbould M; Harrison SM; Lascelles C; Antanaviciute A; Carr IM; Sheridan E; Bonthron DT; Smith A
    J Med Genet; 2016 Apr; 53(4):264-9. PubMed ID: 26733463
    [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. SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.
    Hakonen AH; Polvi A; Saloranta C; Paetau A; Heikkilä P; Almusa H; Ellonen P; Jakkula E; Saarela J; Aittomäki K
    Am J Med Genet A; 2019 Jul; 179(7):1362-1365. PubMed ID: 31059209
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.
    Stattin EL; Johansson J; Gudmundsson S; Ameur A; Lundberg S; Bondeson ML; Wilbe M
    Am J Med Genet A; 2018 Jun; 176(6):1405-1410. PubMed ID: 29663639
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.
    Chen TH; Tian X; Kuo PL; Pan HP; Wong LC; Jong YJ
    Prenat Diagn; 2016 Dec; 36(12):1135-1138. PubMed ID: 27762439
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.
    Turgut GT; Altunoglu U; Gulec C; Sarac Sivrikoz T; Kalaycı T; Toksoy G; Avcı Ş; Yıldırım BT; Sayın GY; Kalelioglu IH; Karaman B; Has R; Başaran S; Yuksel A; Kayserili H; Uyguner ZO
    Clin Genet; 2024 Jun; 105(6):596-610. PubMed ID: 38278647
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.