BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

313 related articles for article (PubMed ID: 16179229)

  • 1. Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.
    Le Caignec C; Swillen A; Van Asche E; Fryns JP; Vermeesch JR
    Eur J Med Genet; 2005; 48(3):339-45. PubMed ID: 16179229
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2).
    Shimojima K; Páez MT; Kurosawa K; Yamamoto T
    Brain Dev; 2009 Sep; 31(8):629-33. PubMed ID: 18835671
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 9 Mb deletion including chromosome band 3q24 associated with unsuspicious facial gestalt, persistent ductus omphaloentericus, mild mental retardation and tic.
    Zweier C; Guth S; Schulte-Mattler U; Rauch A; Trautmann U
    Eur J Med Genet; 2005; 48(3):360-2. PubMed ID: 16179233
    [TBL] [Abstract][Full Text] [Related]  

  • 4. De novo interstitial deletion q16.2q21 on chromosome 6.
    Villa A; Urioste M; Bofarull JM; Martínez-Frías ML
    Am J Med Genet; 1995 Jan; 55(3):379-83. PubMed ID: 7726240
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.
    Kitsiou-Tzeli S; Sismani C; Ioannides M; Bashiardes S; Ketoni A; Touliatou V; Kolialexi A; Mavrou A; Kanavakis E; Patsalis PC
    Eur J Med Genet; 2007; 50(1):73-8. PubMed ID: 17194633
    [TBL] [Abstract][Full Text] [Related]  

  • 6. New insights into the phenotypes of 6q deletions.
    Hopkin RJ; Schorry E; Bofinger M; Milatovich A; Stern HJ; Jayne C; Saal HM
    Am J Med Genet; 1997 Jun; 70(4):377-86. PubMed ID: 9182778
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
    Koolen DA; Reardon W; Rosser EM; Lacombe D; Hurst JA; Law CJ; Bongers EM; van Ravenswaaij-Arts CM; Leisink MA; van Kessel AG; Veltman JA; de Vries BB
    Eur J Hum Genet; 2005 Sep; 13(9):1019-24. PubMed ID: 15986041
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.
    Lespinasse J; Gimelli S; Béna F; Antonarakis SE; Ansermet F; Paoloni-Giacobino A
    Eur J Med Genet; 2009; 52(1):49-52. PubMed ID: 18992376
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33).
    Kato Z; Morimoto W; Kimura T; Matsushima A; Kondo N
    Birth Defects Res A Clin Mol Teratol; 2010 Feb; 88(2):132-5. PubMed ID: 19813260
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.
    Klein OD; Cotter PD; Moore MW; Zanko A; Gilats M; Epstein CJ; Conte F; Rauen KA
    Clin Genet; 2007 Mar; 71(3):260-6. PubMed ID: 17309649
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
    Klopocki E; Neumann LM; Tönnies H; Ropers HH; Mundlos S; Ullmann R
    Eur J Hum Genet; 2006 Dec; 14(12):1274-9. PubMed ID: 16896345
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
    Bruno DL; Anderlid BM; Lindstrand A; van Ravenswaaij-Arts C; Ganesamoorthy D; Lundin J; Martin CL; Douglas J; Nowak C; Adam MP; Kooy RF; Van der Aa N; Reyniers E; Vandeweyer G; Stolte-Dijkstra I; Dijkhuizen T; Yeung A; Delatycki M; Borgström B; Thelin L; Cardoso C; van Bon B; Pfundt R; de Vries BB; Wallin A; Amor DJ; James PA; Slater HR; Schoumans J
    J Med Genet; 2010 May; 47(5):299-311. PubMed ID: 20452996
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.
    Kang SH; Scheffer A; Ou Z; Li J; Scaglia F; Belmont J; Lalani SR; Roeder E; Enciso V; Braddock S; Buchholz J; Vacha S; Chinault AC; Cheung SW; Bacino CA
    Clin Genet; 2007 Oct; 72(4):329-38. PubMed ID: 17850629
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.
    Schoumans J; Staaf J; Jönsson G; Rantala J; Zimmer KS; Borg A; Nordenskjöld M; Anderlid BM
    Eur J Med Genet; 2005; 48(3):290-300. PubMed ID: 16179224
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Ophthalmologic abnormalities in a de novo terminal 6q deletion.
    Abu-Amero KK; Hellani A; Salih MA; Al Hussain A; al Obailan M; Zidan G; Alorainy IA; Bosley TM
    Ophthalmic Genet; 2010 Mar; 31(1):1-11. PubMed ID: 20141352
    [TBL] [Abstract][Full Text] [Related]  

  • 16. High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q.
    Hermsen MA; Tijssen M; Acero IH; Meijer GA; Ylstra B; Toral JF
    Eur J Med Genet; 2005; 48(3):310-8. PubMed ID: 16179226
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.
    Vermeesch JR; Melotte C; Salden I; Riegel M; Trifnov V; Polityko A; Rumyantseva N; Naumchik I; Starke H; Matthijs G; Schinzel A; Fryns JP; Liehr T
    Eur J Med Genet; 2005; 48(3):319-27. PubMed ID: 16179227
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.
    Van Buggenhout G; Van Ravenswaaij-Arts C; Mc Maas N; Thoelen R; Vogels A; Smeets D; Salden I; Matthijs G; Fryns JP; Vermeesch JR
    Eur J Med Genet; 2005; 48(3):276-89. PubMed ID: 16179223
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: three cases studied using FISH.
    Sukumar S; Wang S; Hoang K; Vanchiere CM; England K; Fick R; Pagon B; Reddy KS
    Am J Med Genet; 1999 Nov; 87(1):17-22. PubMed ID: 10528241
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature.
    Gilhuis HJ; van Ravenswaaij CM; Hamel BJ; Gabreëls FJ
    Eur J Paediatr Neurol; 2000; 4(1):39-43. PubMed ID: 10701104
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.