BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

673 related articles for article (PubMed ID: 24095776)

  • 1. Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q).
    Shim SH; Shim JS; Min K; Lee HS; Park JE; Park SH; Hwang E; Kim M
    Gene; 2014 Jan; 534(1):100-6. PubMed ID: 24095776
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype.
    Shrimpton AE; Braddock BR; Thomson LL; Stein CK; Hoo JJ
    Clin Genet; 2004 Dec; 66(6):537-44. PubMed ID: 15521982
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism.
    Hacıhamdioğlu B; Arslan M; Sarı E; Kurtçu K; Yesilkaya E
    J Pediatr Endocrinol Metab; 2013; 26(7-8):793-5. PubMed ID: 23645122
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.
    Giannikou K; Fryssira H; Oikonomakis V; Syrmou A; Kosma K; Tzetis M; Kitsiou-Tzeli S; Kanavakis E
    Gene; 2012 Sep; 506(2):360-8. PubMed ID: 22766398
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.
    Villavicencio-Lorini P; Klopocki E; Trimborn M; Koll R; Mundlos S; Horn D
    Eur J Hum Genet; 2013 Jul; 21(7):743-8. PubMed ID: 23188045
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Pure interstitial duplication of chromosome 7q (7q31.2-->q33) in a 4-year-old girl with growth restriction, short stature, speech delay and intellectual disability.
    Chen CP; Lin SP; Chern SR; Tsai FJ; Lee MS; Chen YJ; Wang W
    Genet Couns; 2011; 22(4):425-30. PubMed ID: 22303804
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.
    Bartsch O; Vlcková Z; Erdogan F; Ullmann R; Novotná D; Spiegel M; Beyer V; Haaf T; Zechner U; Seemanová E
    Cytogenet Genome Res; 2007; 119(1-2):158-64. PubMed ID: 18160797
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia.
    Ogura K; Takeshita K; Arakawa C; Shimojima K; Yamamoto T
    Am J Med Genet B Neuropsychiatr Genet; 2014 Dec; 165B(8):684-90. PubMed ID: 25329715
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Detection of subtelomeric rearrangements in patients with idiopathic mental retardation/developmental delay].
    Wu Y; Jiang YW; Wang XZ; Wang HF; Wang JM; Yang YL; Qin J; Zhong N; Wu XR
    Zhonghua Er Ke Za Zhi; 2007 Dec; 45(12):906-11. PubMed ID: 18339278
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.
    Le TN; Williams SR; Alaimo JT; Elsea SH
    Am J Med Genet A; 2019 May; 179(5):782-791. PubMed ID: 30848064
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy.
    Mohan S; Nampoothiri S; Yesodharan D; Venkatesan V; Koshy T; Paul SF; Perumal V
    Lab Med; 2016 May; 47(2):171-5. PubMed ID: 27069036
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.
    Devillard F; Guinchat V; Moreno-De-Luca D; Tabet AC; Gruchy N; Guillem P; Nguyen Morel MA; Leporrier N; Leboyer M; Jouk PS; Lespinasse J; Betancur C
    Am J Med Genet A; 2010 Sep; 152A(9):2346-54. PubMed ID: 20684015
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.
    Jean-Marçais N; Decamp M; Gérard M; Ribault V; Andrieux J; Kottler ML; Plessis G
    Am J Med Genet A; 2015 Jan; 167A(1):185-9. PubMed ID: 25402011
    [TBL] [Abstract][Full Text] [Related]  

  • 15. FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome.
    Felder B; Radlwimmer B; Benner A; Mincheva A; Tödt G; Beyer KS; Schuster C; Bölte S; Schmötzer G; Klauck SM; Poustka F; Lichter P; Poustka A
    Am J Med Genet A; 2009 May; 149A(5):952-9. PubMed ID: 19365831
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methods.
    Erjavec-Skerget A; Stangler-Herodez S; Zagorac A; Zagradisnik B; Kokalj-Vokac N
    Croat Med J; 2006 Dec; 47(6):841-50. PubMed ID: 17167856
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients.
    Boggula VR; Shukla A; Danda S; Hariharan SV; Nampoothiri S; Kumar R; Phadke SR
    Indian J Med Res; 2014 Jan; 139(1):66-75. PubMed ID: 24604040
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: phenotypic and genotypic findings.
    Shojaei A; Behjati F; Derakhshandeh-Peykar P; Razzaghy-Azar M; Otukesh H; Kariminejad R; Dowlati MA; Rashidi-Nezhad A; Tavakkoly-Bazzaz J
    Gene; 2013 Mar; 517(1):137-45. PubMed ID: 23201896
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q.
    Del Rey J; Santos M; González-Meneses A; Milà M; Fuster C
    Cytogenet Genome Res; 2016; 148(2-3):156-64. PubMed ID: 27216161
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3.
    Mehraein Y; Pfob M; Steinlein O; Aichinger E; Eggert M; Bubendorff V; Mannhart A; Müller S
    Cytogenet Genome Res; 2015; 146(1):33-8. PubMed ID: 26112830
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 34.