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 *

117 related articles for article (PubMed ID: 24102521)

  • 1. Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar.
    Fahiminiya S; Almuriekhi M; Nawaz Z; Staffa A; Lepage P; Ali R; Hashim L; Schwartzentruber J; Abu Khadija K; Zaineddin S; Gamal H; Majewski J; Ben-Omran T
    Clin Genet; 2014 Aug; 86(2):134-41. PubMed ID: 24102521
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.
    Haghighi A; Tiwari A; Piri N; Nürnberg G; Saleh-Gohari N; Haghighi A; Neidhardt J; Nürnberg P; Berger W
    PLoS One; 2014; 9(11):e112747. PubMed ID: 25392994
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
    Makrythanasis P; Nelis M; Santoni FA; Guipponi M; Vannier A; Béna F; Gimelli S; Stathaki E; Temtamy S; Mégarbané A; Masri A; Aglan MS; Zaki MS; Bottani A; Fokstuen S; Gwanmesia L; Aliferis K; Bustamante Eduardo M; Stamoulis G; Psoni S; Kitsiou-Tzeli S; Fryssira H; Kanavakis E; Al-Allawi N; Sefiani A; Al Hait S; Elalaoui SC; Jalkh N; Al-Gazali L; Al-Jasmi F; Bouhamed HC; Abdalla E; Cooper DN; Hamamy H; Antonarakis SE
    Hum Mutat; 2014 Oct; 35(10):1203-10. PubMed ID: 25044680
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
    Reuter MS; Tawamie H; Buchert R; Hosny Gebril O; Froukh T; Thiel C; Uebe S; Ekici AB; Krumbiegel M; Zweier C; Hoyer J; Eberlein K; Bauer J; Scheller U; Strom TM; Hoffjan S; Abdelraouf ER; Meguid NA; Abboud A; Al Khateeb MA; Fakher M; Hamdan S; Ismael A; Muhammad S; Abdallah E; Sticht H; Wieczorek D; Reis A; Abou Jamra R
    JAMA Psychiatry; 2017 Mar; 74(3):293-299. PubMed ID: 28097321
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
    Timal S; Hoischen A; Lehle L; Adamowicz M; Huijben K; Sykut-Cegielska J; Paprocka J; Jamroz E; van Spronsen FJ; Körner C; Gilissen C; Rodenburg RJ; Eidhof I; Van den Heuvel L; Thiel C; Wevers RA; Morava E; Veltman J; Lefeber DJ
    Hum Mol Genet; 2012 Oct; 21(19):4151-61. PubMed ID: 22492991
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
    Beryozkin A; Zelinger L; Bandah-Rozenfeld D; Shevach E; Harel A; Storm T; Sagi M; Eli D; Merin S; Banin E; Sharon D
    Invest Ophthalmol Vis Sci; 2014 Feb; 55(2):1149-60. PubMed ID: 24474277
    [TBL] [Abstract][Full Text] [Related]  

  • 8. First steps in exploring prospective exome sequencing of consanguineous couples.
    Teeuw M; Waisfisz Q; Zwijnenburg PJ; Sistermans EA; Weiss MM; Henneman L; ten Kate LP; Cornel MC; Meijers-Heijboer H
    Eur J Med Genet; 2014; 57(11-12):613-6. PubMed ID: 25281896
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.
    Jamsheer A; Zemojtel T; Kolanczyk M; Stricker S; Hecht J; Krawitz P; Doelken SC; Glazar R; Socha M; Mundlos S
    J Med Genet; 2013 Sep; 50(9):579-84. PubMed ID: 23709756
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population.
    Mu W; Schiess N; Orthmann-Murphy JL; El-Hattab AW
    J Neurogenet; 2019 Mar; 33(1):21-26. PubMed ID: 30724636
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Mutational analysis and prenatal diagnosis in a family affected with hypophosphatemic rickets].
    Luan Z; Li H; Hu L; Chen C; Xu X; Xiang Y; Tang S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Oct; 34(5):633-636. PubMed ID: 28981921
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern.
    Powis Z; Farwell KD; Alamillo CL; Tang S
    J Hum Genet; 2016 Feb; 61(2):173-5. PubMed ID: 26490185
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
    Gerards M; Kamps R; van Oevelen J; Boesten I; Jongen E; de Koning B; Scholte HR; de Angst I; Schoonderwoerd K; Sefiani A; Ratbi I; Coppieters W; Karim L; de Coo R; van den Bosch B; Smeets H
    Brain; 2013 Mar; 136(Pt 3):882-90. PubMed ID: 23423671
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.
    Vivante A; Hwang DY; Kohl S; Chen J; Shril S; Schulz J; van der Ven A; Daouk G; Soliman NA; Kumar AS; Senguttuvan P; Kehinde EO; Tasic V; Hildebrandt F
    J Am Soc Nephrol; 2017 Jan; 28(1):69-75. PubMed ID: 27151922
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel and de novo PHEX mutations in patients with hypophosphatemic rickets.
    Durmaz E; Zou M; Al-Rijjal RA; Baitei EY; Hammami S; Bircan I; Akçurin S; Meyer B; Shi Y
    Bone; 2013 Jan; 52(1):286-91. PubMed ID: 23079138
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
    Kvarnung M; Nilsson D; Lindstrand A; Korenke GC; Chiang SC; Blennow E; Bergmann M; Stödberg T; Mäkitie O; Anderlid BM; Bryceson YT; Nordenskjöld M; Nordgren A
    J Med Genet; 2013 Aug; 50(8):521-8. PubMed ID: 23636107
    [TBL] [Abstract][Full Text] [Related]  

  • 17. COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.
    Ramzan K; Imtiaz F; Taibah K; Alnufiee S; Akhtar M; Al-Hazzaa SA; Al-Owain M
    Int J Pediatr Otorhinolaryngol; 2014 Mar; 78(3):427-32. PubMed ID: 24398087
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.
    Zheng Z; Geng J; Yao RE; Li C; Ying D; Shen Y; Ying L; Yu Y; Fu Q
    Gene; 2013 Nov; 530(2):295-300. PubMed ID: 23973728
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients.
    Al Alawi I; Al Riyami M; Barroso-Gil M; Powell L; Olinger E; Al Salmi I; Sayer JA
    F1000Res; 2021; 10():207. PubMed ID: 34354814
    [No Abstract]   [Full Text] [Related]  

  • 20. Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.
    Shaheen R; Alazami AM; Alshammari MJ; Faqeih E; Alhashmi N; Mousa N; Alsinani A; Ansari S; Alzahrani F; Al-Owain M; Alzayed ZS; Alkuraya FS
    J Med Genet; 2012 Oct; 49(10):630-5. PubMed ID: 23054245
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.