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 *

159 related articles for article (PubMed ID: 24357464)

  • 21. An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.
    Bremer A; Schoumans J; Nordenskjöld M; Anderlid BM; Giacobini M
    Eur J Med Genet; 2009; 52(5):358-62. PubMed ID: 19576304
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity.
    Hyder Z; Fairclough A; Douzgou S
    Clin Dysmorphol; 2019 Jul; 28(3):131-136. PubMed ID: 31045593
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case.
    Tuğ E; Yirmibeş Karaoğuz M; Kayhan G; Ergün MA; Perçin FE
    Am J Med Genet A; 2014 Jul; 164A(7):1770-6. PubMed ID: 24677787
    [TBL] [Abstract][Full Text] [Related]  

  • 24. De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features.
    Fabretto A; Santa Rocca M; Perrone MD; Skabar A; Pecile V; Gasparini P
    Am J Med Genet A; 2012 Apr; 158A(4):882-7. PubMed ID: 22407795
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 2q24 deletions: further characterization of clinical findings and their relation to the SCN cluster.
    Nimmakayalu M; Noble N; Horton VK; Willing M; Copeland S; Sheffield V; Nagy PL; Wassink T; Patil S; Shchelochkov OA
    Am J Med Genet A; 2012 Nov; 158A(11):2767-74. PubMed ID: 23023937
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.
    Mackenroth L; Hackmann K; Klink B; Weber JS; Mayer B; Schröck E; Tzschach A
    Am J Med Genet A; 2016 Sep; 170(9):2394-9. PubMed ID: 27255444
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.
    Tomaszewska A; Podbiol-Palenta A; Boter M; Geisler G; Wawrzkiewicz-Witkowska A; Galjaard RJ; Zajączek S; Srebniak MI
    Am J Med Genet A; 2013 Sep; 161A(9):2347-51. PubMed ID: 23918240
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features.
    Silipigni R; Cattaneo E; Baccarin M; Fumagalli M; Bedeschi MF
    Eur J Med Genet; 2016 Jan; 59(1):39-42. PubMed ID: 26700408
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.
    Ballarati L; Cereda A; Caselli R; Selicorni A; Recalcati MP; Maitz S; Finelli P; Larizza L; Giardino D
    Eur J Med Genet; 2011; 54(1):55-9. PubMed ID: 20969981
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review.
    Schwaibold EM; Zoll B; Burfeind P; Hobbiebrunken E; Wilken B; Funke R; Shoukier M
    Am J Med Genet A; 2013 Oct; 161A(10):2634-40. PubMed ID: 23949945
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.
    Cingöz S; Bache I; Bjerglund L; Ropers HH; Tommerup N; Jensen H; Brøndum-Nielsen K; Tümer Z
    Am J Med Genet A; 2011 Jan; 155A(1):203-6. PubMed ID: 21204233
    [TBL] [Abstract][Full Text] [Related]  

  • 32. De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.
    Stokman MF; Oud MM; van Binsbergen E; Slaats GG; Nicolaou N; Renkema KY; Nijman IJ; Roepman R; Giles RH; Arts HH; Knoers NV; van Haelst MM
    Am J Med Genet A; 2016 Jun; 170(6):1566-9. PubMed ID: 26892345
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion.
    Papadopoulou E; Sismani C; Christodoulou C; Ioannides M; Kalmanti M; Patsalis P
    Am J Med Genet A; 2010 Jun; 152A(6):1515-22. PubMed ID: 20503328
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
    Peddibhotla S; Nagamani SC; Erez A; Hunter JV; Holder JL; Carlin ME; Bader PI; Perras HM; Allanson JE; Newman L; Simpson G; Immken L; Powell E; Mohanty A; Kang SH; Stankiewicz P; Bacino CA; Bi W; Patel A; Cheung SW
    Eur J Hum Genet; 2015 Jan; 23(1):54-60. PubMed ID: 24736736
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: dissecting the phenotype.
    Izumi K; Brooks SS; Feret HA; Zackai EH
    Am J Med Genet A; 2012 Jul; 158A(7):1535-41. PubMed ID: 22614953
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Interstitial duplication of chromosome region 1q25.1q25.3: report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms.
    Kehrer M; Liehr T; Benkert T; Singer S; Grasshoff U; Schaeferhoff K; Bonin M; Weichselbaum A; Tzschach A
    Am J Med Genet A; 2015 Mar; 167A(3):653-6. PubMed ID: 25691419
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1.
    Bloch M; Leonard A; Diplas AA; Pepermans X; Emanuel BS; Santa Rocca M; Revencu N; Sznajer Y
    Am J Med Genet A; 2014 Jul; 164A(7):1789-94. PubMed ID: 24700699
    [TBL] [Abstract][Full Text] [Related]  

  • 38. An emerging phenotype of proximal 11q deletions.
    Melis D; Genesio R; Cozzolino M; Del Giudice E; Mormile A; Imperati F; Ronga V; Della Casa R; Nitsch L; Andria G
    Eur J Med Genet; 2010; 53(5):340-3. PubMed ID: 20688202
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 14q(22) deletion in a familial case of anophthalmia with polydactyly.
    Ahmad ME; Dada R; Dada T; Kucheria K
    Am J Med Genet A; 2003 Jul; 120A(1):117-22. PubMed ID: 12794703
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.
    Moortgat S; Verellen-Dumoulin C; Maystadt I; Parmentier B; Grisart B; Hennecker JL; Destree A
    Eur J Med Genet; 2011; 54(2):177-80. PubMed ID: 21167329
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.