BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

106 related articles for article (PubMed ID: 30408610)

  • 1. Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India.
    Uttarilli A; Shah H; Bhavani GS; Upadhyai P; Shukla A; Girisha KM
    Bone; 2019 Mar; 120():204-211. PubMed ID: 30408610
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country.
    Nampoothiri S; Yesodharan D; Sainulabdin G; Narayanan D; Padmanabhan L; Girisha KM; Cathey SS; De Paepe A; Malfait F; Syx D; Hennekam RC; Bonafe L; Unger S; Superti-Furga A
    Am J Med Genet A; 2014 Sep; 164A(9):2317-23. PubMed ID: 25044831
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.
    Kakar N; Rehman FU; Kaur R; Bhavani GS; Goyal M; Shah H; Kaur K; Sodhi KS; Kubisch C; Borck G; Panigrahi I; Girisha KM; Kornak U; Spielmann M
    Clin Genet; 2024 Jul; 106(1):47-55. PubMed ID: 38378010
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis.
    Kurt-Sukur ED; Simsek-Kiper PO; Utine GE; Boduroglu K; Alanay Y
    Am J Med Genet A; 2015 Sep; 167A(9):2065-74. PubMed ID: 25931420
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.
    Liu Y; Asan ; Ma D; Lv F; Xu X; Wang J; Xia W; Jiang Y; Wang O; Xing X; Yu W; Wang J; Sun J; Song L; Zhu Y; Yang H; Wang J; Li M
    Osteoporos Int; 2017 Oct; 28(10):2985-2995. PubMed ID: 28725987
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study.
    Kolambage YD; Walpita YN; Liyanage UA; Dayaratne BMKDR; Dissanayake VHW
    Orphanet J Rare Dis; 2023 Sep; 18(1):279. PubMed ID: 37684696
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
    Tham E; Eklund EA; Hammarsjö A; Bengtson P; Geiberger S; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Grigelionis G; Conner P; Lindgren P; Lindstrand A; Wedell A; Albåge M; Zielinska K; Nordgren A; Papadogiannakis N; Nishimura G; Grigelioniene G
    Eur J Hum Genet; 2016 Feb; 24(2):198-207. PubMed ID: 25966638
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Skeletal dysplasias in a hospital in southern India.
    Kulkarni ML; Samuel K; Bhagyavathi M; Sureshkumar C
    Indian Pediatr; 1995 Jun; 32(6):657-65. PubMed ID: 8613334
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic skeletal dysplasia in Thailand: the Siriraj experience.
    Wasant P; Waeteekul S; Rimoin DL; Lachman RS
    Southeast Asian J Trop Med Public Health; 1995; 26 Suppl 1():59-67. PubMed ID: 8629144
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.
    Biji IK; Yadav S; Kulshrestha S; Saxena R; Kohli S; Verma IC; Kumar B; Puri RD
    Eur J Med Genet; 2022 Oct; 65(10):104595. PubMed ID: 36007841
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
    Lipska-Ziętkiewicz BS; Gellermann J; Boyer O; Gribouval O; Ziętkiewicz S; Kari JA; Shalaby MA; Ozaltin F; Dusek J; Melk A; Bayazit AK; Massella L; Hyla-Klekot L; Habbig S; Godron A; Szczepańska M; Bieniaś B; Drożdż D; Odeh R; Jarmużek W; Zachwieja K; Trautmann A; Antignac C; Schaefer F;
    PLoS One; 2017; 12(8):e0180926. PubMed ID: 28796785
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.
    Rai E; Mahajan A; Kumar P; Angural A; Dhar MK; Razdan S; Thangaraj K; Wise CA; Ikegawa S; Pandita KK; Sharma S
    Sci Rep; 2016 Jun; 6():27684. PubMed ID: 27291587
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
    Barat-Houari M; Dumont B; Fabre A; Them FT; Alembik Y; Alessandri JL; Amiel J; Audebert S; Baumann-Morel C; Blanchet P; Bieth E; Brechard M; Busa T; Calvas P; Capri Y; Cartault F; Chassaing N; Ciorca V; Coubes C; David A; Delezoide AL; Dupin-Deguine D; El Chehadeh S; Faivre L; Giuliano F; Goldenberg A; Isidor B; Jacquemont ML; Julia S; Kaplan J; Lacombe D; Lebrun M; Marlin S; Martin-Coignard D; Martinovic J; Masurel A; Melki J; Mozelle-Nivoix M; Nguyen K; Odent S; Philip N; Pinson L; Plessis G; Quélin C; Shaeffer E; Sigaudy S; Thauvin C; Till M; Touraine R; Vigneron J; Baujat G; Cormier-Daire V; Le Merrer M; Geneviève D; Touitou I
    Eur J Hum Genet; 2016 Jul; 24(7):992-1000. PubMed ID: 26626311
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The skeletal dysplasias: clinical-molecular correlations.
    Rimoin DL; Cohn D; Krakow D; Wilcox W; Lachman RS; Alanay Y
    Ann N Y Acad Sci; 2007 Nov; 1117():302-9. PubMed ID: 18056050
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.
    Hesse AN; Bevilacqua J; Shankar K; Reddi HV
    Epilepsy Res; 2018 Aug; 144():53-61. PubMed ID: 29778030
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India.
    Yenamandra VK; Vellarikkal SK; Kumar M; Chowdhury MR; Jayarajan R; Verma A; Scaria V; Sivasubbu S; Ray SB; Dinda AK; Kabra M; Kaur P; Sharma VK; Sethuraman G
    J Dermatol Sci; 2017 Apr; 86(1):30-36. PubMed ID: 28087116
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes.
    Thompson E; Abdalla E; Superti-Furga A; McAlister W; Kratz L; Unger S; Royer-Bertrand B; Campos-Xavier B; Mittaz-Crettol L; Amin AK; DeSanto C; Wilson DB; Douglas G; Kozel B; Shinawi M
    Bone; 2019 Mar; 120():354-363. PubMed ID: 30448303
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
    Tsaousis GN; Papadopoulou E; Apessos A; Agiannitopoulos K; Pepe G; Kampouri S; Diamantopoulos N; Floros T; Iosifidou R; Katopodi O; Koumarianou A; Markopoulos C; Papazisis K; Venizelos V; Xanthakis I; Xepapadakis G; Banu E; Eniu DT; Negru S; Stanculeanu DL; Ungureanu A; Ozmen V; Tansan S; Tekinel M; Yalcin S; Nasioulas G
    BMC Cancer; 2019 Jun; 19(1):535. PubMed ID: 31159747
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Monogenic and polygenic determinants of sarcoma risk: an international genetic study.
    Ballinger ML; Goode DL; Ray-Coquard I; James PA; Mitchell G; Niedermayr E; Puri A; Schiffman JD; Dite GS; Cipponi A; Maki RG; Brohl AS; Myklebost O; Stratford EW; Lorenz S; Ahn SM; Ahn JH; Kim JE; Shanley S; Beshay V; Randall RL; Judson I; Seddon B; Campbell IG; Young MA; Sarin R; Blay JY; O'Donoghue SI; Thomas DM;
    Lancet Oncol; 2016 Sep; 17(9):1261-71. PubMed ID: 27498913
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux.
    Srivastava P; Tuteja M; Dalal A; Mandal K; R Phadke S
    J Genet; 2016 Dec; 95(4):905-909. PubMed ID: 27994189
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.