BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 20685673)

  • 1. Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.
    Van Esch H; Rosser EM; Janssens S; Van Ingelghem I; Loeys B; Menten B
    J Med Genet; 2010 Oct; 47(10):717-20. PubMed ID: 20685673
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy.
    Dhamija R; Breningstall G; Wong-Kisiel L; Dolan M; Hirsch B; Wirrell E
    Pediatr Neurol; 2011 Jul; 45(1):60-2. PubMed ID: 21723464
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.
    Chen CP; Lin SP; Chern SR; Chen YJ; Tsai FJ; Wu PC; Wang W
    Eur J Med Genet; 2010; 53(4):217-20. PubMed ID: 20346423
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism.
    Rocca MS; Faletra F; Devescovi R; Gasparini P; Pecile V
    Eur J Med Genet; 2013 Jan; 56(1):62-5. PubMed ID: 23142270
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay.
    Andrieux J; Richebourg S; Duban-Bedu B; Petit F; Leprêtre F; Sukno S; Dehouck MB; Delobel B
    Eur J Med Genet; 2008; 51(4):373-81. PubMed ID: 18463015
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis.
    Caliebe A; Martin Subero JI; Muhle H; Gesk S; Jänig U; Krause M; Plendl H; Stephani U; Siebert R; Eckmann-Scholz C
    Eur J Med Genet; 2011; 54(5):e505-9. PubMed ID: 21736959
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. De novo deletion of 1q31.1-q32.1 in a patient with developmental delay and behavioral disorders.
    Milani D; Bedeschi MF; Iascone M; Chiarelli G; Cerutti M; Menni F
    Cytogenet Genome Res; 2012; 136(3):167-70. PubMed ID: 22398643
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
    Battaglia A; Hoyme HE; Dallapiccola B; Zackai E; Hudgins L; McDonald-McGinn D; Bahi-Buisson N; Romano C; Williams CA; Brailey LL; Zuberi SM; Carey JC
    Pediatrics; 2008 Feb; 121(2):404-10. PubMed ID: 18245432
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization.
    Brunetti-Pierri N; Grange DK; Ou Z; Peiffer DA; Peacock SK; Cooper ML; Eng PA; Lalani SR; Chinault AC; Gunderson KL; Craigen WJ; Cheung SW
    Clin Genet; 2007 Nov; 72(5):411-9. PubMed ID: 17916097
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.
    Ji T; Wu Y; Wang H; Wang J; Jiang Y
    J Hum Genet; 2010 Aug; 55(8):486-9. PubMed ID: 20520618
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism.
    Yu HE; Hawash K; Picker J; Stoler J; Urion D; Wu BL; Shen Y
    Clin Genet; 2012 Mar; 81(3):257-64. PubMed ID: 21255006
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Delineation of a recognisable phenotype of interstitial deletion 3 (q22.3q25.1) in a case with previously unreported truncus arteriosus.
    Rea G; McCullough S; McNerlan S; Craig B; Morrison PJ
    Eur J Med Genet; 2010; 53(3):162-7. PubMed ID: 20215058
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism.
    Chen CP; Wang TH; Lin SP; Chern SR; Chen MR; Lee CC; Chen YJ; Wang W
    Eur J Med Genet; 2006; 49(6):516-9. PubMed ID: 16769261
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.
    Becker K; Di Donato N; Holder-Espinasse M; Andrieux J; Cuisset JM; Vallée L; Plessis G; Jean N; Delobel B; Thuresson AC; Annerén G; Ravn K; Tümer Z; Tinschert S; Schrock E; Jønch AE; Hackmann K
    Eur J Med Genet; 2012; 55(8-9):490-7. PubMed ID: 22561202
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.