BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

159 related articles for article (PubMed ID: 30916490)

  • 1. A case study of atypical Larsen syndrome with absent hallmark joint dislocations.
    Kodra N; Diamonstein C; Hauser NS
    Mol Genet Genomic Med; 2019 May; 7(5):e648. PubMed ID: 30916490
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.
    Girisha KM; Bidchol AM; Graul-Neumann L; Gupta A; Hehr U; Lessel D; Nader S; Shah H; Wickert J; Kutsche K
    BMC Med Genet; 2016 Apr; 17():27. PubMed ID: 27048506
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel in-frame
    Hickey SE; Koboldt DC; Mosher TM; Brennan P; Schmalz BA; Crist E; McBride KL; Adler BH; White P; Wilson RK
    Cold Spring Harb Mol Case Stud; 2019 Dec; 5(6):. PubMed ID: 31836586
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.
    Jeon GW; Lee MN; Jung JM; Hong SY; Kim YN; Sin JB; Ki CS
    Ann Lab Med; 2014 Mar; 34(2):134-8. PubMed ID: 24624349
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion.
    Quiggle A; Charng WL; Antunes L; Nikolov M; Bledsoe X; Hecht JT; Dobbs MB; Gurnett CA
    Clin Orthop Relat Res; 2022 Feb; 480(2):421-430. PubMed ID: 34491919
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.
    Bernkopf M; Hunt D; Koelling N; Morgan T; Collins AL; Fairhurst J; Robertson SP; Douglas AGL; Goriely A
    Hum Mutat; 2017 Oct; 38(10):1360-1364. PubMed ID: 28639312
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).
    Alessandri JL; Celse T; Spodenkiewicz M; Calaya A; Dumont C; Jacquemont ML; Bertaut-Nativel B; Boumahni B; Rémy M; Ferroul F; Guilly S; Huby T; Irabé M; Laurens T; Munier P; Morel G; Payet F; Randrianaivo H; Doray B; Dospeux J
    Eur J Med Genet; 2024 Jun; 69():104940. PubMed ID: 38705458
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.
    Hermanns P; Unger S; Rossi A; Perez-Aytes A; Cortina H; Bonafé L; Boccone L; Setzu V; Dutoit M; Sangiorgi L; Pecora F; Reicherter K; Nishimura G; Spranger J; Zabel B; Superti-Furga A
    Am J Hum Genet; 2008 Jun; 82(6):1368-74. PubMed ID: 18513679
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4.
    Fedida A; Ben Harouch S; Kalfon L; Abunassar Z; Omari H; Mandel H; Falik-Zaccai TC
    Eur J Med Genet; 2020 Nov; 63(11):104020. PubMed ID: 32827718
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.
    Riise N; Lindberg BR; Kulseth MA; Fredwall SO; Lundby R; Estensen ME; Drolsum L; Merckoll E; Krohg-Sørensen K; Paus B
    BMC Med Genet; 2018 Aug; 19(1):155. PubMed ID: 30170566
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations.
    Wu H; Wang Y; Chen X; Yao Y; Zhao W; Fang L; Sun X; Wang N; Jiang J; Gao L; Zhao J; Xu C
    Oxid Med Cell Longev; 2022; 2022():8956636. PubMed ID: 35832491
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
    Yang J; Wang Q; Zhuo Q; Tian H; Li W; Luo F; Zhang J; Bi D; Peng J; Zhou D; Xin H
    Mol Genet Genomic Med; 2018 Sep; 6(5):739-748. PubMed ID: 29974678
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The Larsen syndrome, autosomal dominant form.
    Sugarman GI
    Birth Defects Orig Artic Ser; 1975; 11(2):121-9. PubMed ID: 1227522
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
    Cartault F; Munier P; Jacquemont ML; Vellayoudom J; Doray B; Payet C; Randrianaivo H; Laville JM; Munnich A; Cormier-Daire V
    Eur J Hum Genet; 2015 Jan; 23(1):49-53. PubMed ID: 24755949
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach.
    P S; D KT; Tanwar H; R S; C GPD; Zayed H
    J Cell Biochem; 2017 Jul; 118(7):1900-1910. PubMed ID: 28145583
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.
    S UK; Sankar S; Younes S; D TK; Ahmad MN; Okashah SS; Kamaraj B; Al-Subaie AM; C GPD; Zayed H
    Molecules; 2020 Nov; 25(23):. PubMed ID: 33255942
    [TBL] [Abstract][Full Text] [Related]  

  • 17. GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.
    Patel N; Shamseldin HE; Sakati N; Khan AO; Softa A; Al-Fadhli FM; Hashem M; Abdulwahab FM; Alshidi T; Alomar R; Alobeid E; Wakil SM; Colak D; Alkuraya FS
    Am J Hum Genet; 2017 May; 100(5):831-836. PubMed ID: 28475863
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome.
    Qasim H; Khan H; Zeb H; Ahmad A; Ilyas M; Zahoor M; Umar MN; Ullah R; Ali EA
    J Basic Clin Physiol Pharmacol; 2024 May; 35(3):181-187. PubMed ID: 38743867
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
    Min BJ; Kim N; Chung T; Kim OH; Nishimura G; Chung CY; Song HR; Kim HW; Lee HR; Kim J; Kang TH; Seo ME; Yang SD; Kim DH; Lee SB; Kim JI; Seo JS; Choi JY; Kang D; Kim D; Park WY; Cho TJ
    Am J Hum Genet; 2011 Dec; 89(6):760-6. PubMed ID: 22152677
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.
    Girisha KM; Kortüm F; Shah H; Alawi M; Dalal A; Bhavani GS; Kutsche K
    Eur J Hum Genet; 2016 Aug; 24(8):1206-10. PubMed ID: 26669664
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.