BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

104 related articles for article (PubMed ID: 21668896)

  • 21. Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.
    Kollberg G; Tulinius M; Melberg A; Darin N; Andersen O; Holmgren D; Oldfors A; Holme E
    Brain; 2009 Aug; 132(Pt 8):2170-9. PubMed ID: 19567699
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.
    Lezirovitz K; Pardono E; de Mello Auricchio MT; de Carvalho E Silva FL; Lopes JJ; Abreu-Silva RS; Romanos J; Batissoco AC; Mingroni-Netto RC
    Eur J Hum Genet; 2008 Jan; 16(1):89-96. PubMed ID: 17851452
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
    den Hollander AI; Lopez I; Yzer S; Zonneveld MN; Janssen IM; Strom TM; Hehir-Kwa JY; Veltman JA; Arends ML; Meitinger T; Musarella MA; van den Born LI; Fishman GA; Maumenee IH; Rohrschneider K; Cremers FP; Koenekoop RK
    Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5690-8. PubMed ID: 18055821
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.
    Wang D; Wu B; Li Y; Heng W; Zhong H; Mu Y; Wang J
    J Hum Genet; 2001; 46(3):152-4. PubMed ID: 11310584
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
    Littink KW; Pott JW; Collin RW; Kroes HY; Verheij JB; Blokland EA; de Castro Miró M; Hoyng CB; Klaver CC; Koenekoop RK; Rohrschneider K; Cremers FP; van den Born LI; den Hollander AI
    Invest Ophthalmol Vis Sci; 2010 Jul; 51(7):3646-52. PubMed ID: 20130272
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.
    Ben-Salem S; Hertecant J; Al-Shamsi AM; Ali BR; Al-Gazali L
    Birth Defects Res A Clin Mol Teratol; 2013 Dec; 97(12):764-9. PubMed ID: 24014090
    [TBL] [Abstract][Full Text] [Related]  

  • 27. An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.
    Bhuiyan ZA; Momenah TS; Amin AS; Al-Khadra AS; Alders M; Wilde AA; Mannens MM
    Prog Biophys Mol Biol; 2008; 98(2-3):319-27. PubMed ID: 19027783
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene.
    van Engelen BG; Muchir A; Hutchison CJ; van der Kooi AJ; Bonne G; Lammens M
    Neurology; 2005 Jan; 64(2):374-6. PubMed ID: 15668447
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family].
    Sakka R; Kerkeni E; Chaabouni M; Chioukh FZ; Ben Amor S; M'rad R; Ben Yahia S; Chaabouni H; Monastiri K
    Tunis Med; 2015 Mar; 93(3):170-4. PubMed ID: 26367406
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Homozygous point mutations in platelet glycoprotein ITGA2B gene as cause of Glanzmann thrombasthenia in 2 families.
    Sandrock K; Halimeh S; Wiegering V; Kappert G; Sauer K; Deeg N; Busse E; Zieger B
    Klin Padiatr; 2012 Apr; 224(3):174-8. PubMed ID: 22513797
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.
    Laradi S; Tukel T; Khediri S; Shabbeer J; Erazo M; Chkioua L; Chaabouni M; Ferchichi S; Miled A; Desnick RJ
    Mol Genet Metab; 2006 Mar; 87(3):213-8. PubMed ID: 16378744
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population.
    Al-Gazali LI; Bakir M; Hamid Z; Varady E; Varghes M; Haas D; Bener A; Padmanabhan R; Abdulrrazzaq YM; Dawadu A
    Birth Defects Res A Clin Mol Teratol; 2003 Feb; 67(2):125-32. PubMed ID: 12769508
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
    Liburd N; Ghosh M; Riazuddin S; Naz S; Khan S; Ahmed Z; Riazuddin S; Liang Y; Menon PS; Smith T; Smith AC; Chen KS; Lupski JR; Wilcox ER; Potocki L; Friedman TB
    Hum Genet; 2001 Nov; 109(5):535-41. PubMed ID: 11735029
    [TBL] [Abstract][Full Text] [Related]  

  • 34. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata.
    Bams-Mengerink AM; Majoie CB; Duran M; Wanders RJ; Van Hove J; Scheurer CD; Barth PG; Poll-The BT
    Neurology; 2006 Mar; 66(6):798-803; discussion 789. PubMed ID: 16567694
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families.
    Louhichi N; Richard P; Triki CH; Meziou M; Ayadi H; Guicheney P; Fakhfakh F
    Arch Inst Pasteur Tunis; 2006; 83(1-4):19-23. PubMed ID: 19388593
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations.
    Okur H; Balta G; Akarsu N; Oner A; Patiroglu T; Bay A; Sayli T; Unal S; Gurgey A
    Leuk Res; 2008 Jun; 32(6):972-5. PubMed ID: 18190960
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.
    Lim BC; Ki CS; Kim JW; Cho A; Kim MJ; Hwang H; Kim KJ; Hwang YS; Park WY; Lim YJ; Kim IO; Lee JS; Chae JH
    Neuromuscul Disord; 2010 Aug; 20(8):524-30. PubMed ID: 20620061
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
    Fernandez-Valero EM; Ballart A; Iturriaga C; Lluch M; Macias J; Vanier MT; Pineda M; Coll MJ
    Clin Genet; 2005 Sep; 68(3):245-54. PubMed ID: 16098014
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia.
    Kobielak K; Kobielak A; Roszkiewicz J; Wierzba J; Limon J; Trzeciak WH
    Am J Med Genet; 2001 May; 100(3):191-7. PubMed ID: 11343303
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
    García M; Santiago JL; Terrón A; Hernández-Martín A; Vicente A; Fortuny C; De Lucas R; López JC; Cuadrado-Corrales N; Holguín A; Illera N; Duarte B; Sánchez-Jimeno C; Llames S; García E; Ayuso C; Martínez-Santamaría L; Castiglia D; De Luca N; Torrelo A; Mechan D; Baty D; Zambruno G; Escámez MJ; Del Río M
    Br J Dermatol; 2011 Sep; 165(3):683-92. PubMed ID: 21623745
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.