BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

260 related articles for article (PubMed ID: 23832105)

  • 21. Array CGH analysis of a cohort of Russian patients with intellectual disability.
    Kashevarova AA; Nazarenko LP; Skryabin NA; Salyukova OA; Chechetkina NN; Tolmacheva EN; Sazhenova EA; Magini P; Graziano C; Romeo G; Kučinskas V; Lebedev IN
    Gene; 2014 Feb; 536(1):145-50. PubMed ID: 24291026
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Cohen syndrome diagnosis using whole genome arrays.
    Rivera-Brugués N; Albrecht B; Wieczorek D; Schmidt H; Keller T; Göhring I; Ekici AB; Tzschach A; Garshasbi M; Franke K; Klopp N; Wichmann HE; Meitinger T; Strom TM; Hempel M
    J Med Genet; 2011 Feb; 48(2):136-40. PubMed ID: 20921020
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Association between DPP6 polymorphism and the risk of progressive multiple sclerosis in Northern and Southern Europeans.
    Brambilla P; Esposito F; Lindstrom E; Sorosina M; Giacalone G; Clarelli F; Rodegher M; Colombo B; Moiola L; Ghezzi A; Capra R; Collimedaglia L; Coniglio G; Celius EG; Galimberti D; Sørensen PS; Martinelli V; Oturai AB; Harbo HF; Hillert J; Comi G; Martinelli-Boneschi F
    Neurosci Lett; 2012 Nov; 530(2):155-60. PubMed ID: 23069673
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Detailed characterization of familial idiopathic ventricular fibrillation linked to the DPP6 locus.
    Ten Sande JN; Postema PG; Boekholdt SM; Tan HL; van der Heijden JF; de Groot NM; Volders PG; Zeppenfeld K; Boersma LV; Nannenberg EA; Christiaans I; Wilde AA
    Heart Rhythm; 2016 Apr; 13(4):905-12. PubMed ID: 26681609
    [TBL] [Abstract][Full Text] [Related]  

  • 25. DYRK1A mutations in two unrelated patients.
    Ruaud L; Mignot C; Guët A; Ohl C; Nava C; Héron D; Keren B; Depienne C; Benoit V; Maystadt I; Lederer D; Amsallem D; Piard J
    Eur J Med Genet; 2015 Mar; 58(3):168-74. PubMed ID: 25641759
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.
    Tsoutsou E; Tzetis M; Giannikou K; Syrmou A; Oikonomakis V; Kosma K; Kanioura A; Kanavakis E; Fryssira H
    Eur J Paediatr Neurol; 2013 May; 17(3):316-20. PubMed ID: 23352671
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A novel mutation of dipeptidyl aminopeptidase-like protein-6 in a family with suspicious idiopathic ventricular fibrillation.
    Ding DB; Fan LL; Xiao Z; Huang H; Chen YQ; Guo S; Liu ZH; Xiang R
    QJM; 2018 Jun; 111(6):373-377. PubMed ID: 29474731
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2.
    Banerjee S; Chen H; Huang H; Wu J; Yang Z; Deng W; Chen D; Deng J; Su Y; Li Y; Wu C; Wang Y; Zeng H; Wang Y; Li X
    Oncotarget; 2016 Nov; 7(48):78363-78371. PubMed ID: 27852057
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.
    Preiksaitiene E; Männik K; Dirse V; Utkus A; Ciuladaite Z; Kasnauskiene J; Kurg A; Kučinskas V
    Eur J Med Genet; 2012 Nov; 55(11):656-9. PubMed ID: 22842074
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 10q23.31 microduplication encompassing
    Oliveira D; Leal GF; Sertié AL; Caires LC; Goulart E; Musso CM; Oliveira JRM; Krepischi ACV; Vianna-Morgante AM; Zatz M
    J Med Genet; 2019 Aug; 56(8):543-547. PubMed ID: 30301738
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
    Striano P; Coppola A; Paravidino R; Malacarne M; Gimelli S; Robbiano A; Traverso M; Pezzella M; Belcastro V; Bianchi A; Elia M; Falace A; Gazzerro E; Ferlazzo E; Freri E; Galasso R; Gobbi G; Molinatto C; Cavani S; Zuffardi O; Striano S; Ferrero GB; Silengo M; Cavaliere ML; Benelli M; Magi A; Piccione M; Dagna Bricarelli F; Coviello DA; Fichera M; Minetti C; Zara F
    Arch Neurol; 2012 Mar; 69(3):322-30. PubMed ID: 22083797
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.
    Kousar R; Nawaz H; Khurshid M; Ali G; Khan SU; Mir H; Ayub M; Wali A; Ali N; Jelani M; Basit S; Ahmad W; Ansar M
    J Child Neurol; 2010 Jun; 25(6):715-20. PubMed ID: 19808985
    [TBL] [Abstract][Full Text] [Related]  

  • 33. ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.
    Ghoumid J; Drevillon L; Alavi-Naini SM; Bondurand N; Rio M; Briand-Suleau A; Nasser M; Goodwin L; Raymond P; Yanicostas C; Goossens M; Lyonnet S; Mowat D; Amiel J; Soussi-Yanicostas N; Giurgea I
    Hum Mol Genet; 2013 Jul; 22(13):2652-61. PubMed ID: 23466526
    [TBL] [Abstract][Full Text] [Related]  

  • 34. SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
    Garshasbi M; Motazacker MM; Kahrizi K; Behjati F; Abedini SS; Nieh SE; Firouzabadi SG; Becker C; Rüschendorf F; Nürnberg P; Tzschach A; Vazifehmand R; Erdogan F; Ullmann R; Lenzner S; Kuss AW; Ropers HH; Najmabadi H
    Hum Genet; 2006 Feb; 118(6):708-15. PubMed ID: 16311745
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Expression of Dpp6 in mouse embryonic craniofacial development.
    Du J; Fan Z; Ma X; Gao Y; Wu Y; Liu S; Shen Y; Fan M; Wang S
    Acta Histochem; 2011 Oct; 113(6):636-9. PubMed ID: 20817268
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Dpp6 is associated with susceptibility to progressive spinal muscular atrophy.
    van Es MA; van Vught PW; van Kempen G; Blauw HM; Veldink JH; van den Berg LH
    Neurology; 2009 Mar; 72(13):1184-5. PubMed ID: 19332697
    [No Abstract]   [Full Text] [Related]  

  • 37. Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene.
    Labarta JI; Barrio E; Audí L; Fernández-Cancio M; Andaluz P; de Arriba A; Puga B; Calvo MT; Mayayo E; Carrascosa A; Ferrández-Longás A
    Clin Endocrinol (Oxf); 2013 Feb; 78(2):255-62. PubMed ID: 22738321
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.
    Bhat V; Girimaji SC; Mohan G; Arvinda HR; Singhmar P; Duvvari MR; Kumar A
    Clin Genet; 2011 Dec; 80(6):532-40. PubMed ID: 21496009
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.
    Allou L; Lambert L; Amsallem D; Bieth E; Edery P; Destrée A; Rivier F; Amor D; Thompson E; Nicholl J; Harbord M; Nemos C; Saunier A; Moustaïne A; Vigouroux A; Jonveaux P; Philippe C
    Eur J Hum Genet; 2012 Dec; 20(12):1216-23. PubMed ID: 22739344
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Analysis of DPP6 and FGGY as candidate genes for amyotrophic lateral sclerosis.
    Daoud H; Valdmanis PN; Dion PA; Rouleau GA
    Amyotroph Lateral Scler; 2010 Aug; 11(4):389-91. PubMed ID: 20001489
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.