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Journal Abstract Search

467 related items for PubMed ID: 18194513

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  • 4. Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter.
    Poot M, Eleveld MJ, van 't Slot R, van Genderen MM, Verrijn Stuart AA, Hochstenbach R, Beemer FA.
    Eur J Med Genet; 2007; 50(6):432-40. PubMed ID: 17931990
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  • 5. Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.
    Ballarati L, Recalcati MP, Bedeschi MF, Lalatta F, Valtorta C, Bellini M, Finelli P, Larizza L, Giardino D.
    Eur J Med Genet; 2009; 52(4):218-23. PubMed ID: 19236961
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  • 6. Microdeletion 15q26.2qter and Microduplication 18q23 in a Patient with Prader-Willi-Like Syndrome: Clinical Findings.
    Dello Russo P, Demori E, Sechi A, Passon N, Romagno D, Gnan C, Zoratti R, Damante G.
    Cytogenet Genome Res; 2016; 148(1):14-8. PubMed ID: 27160288
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  • 7. Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).
    Lalani SR, Sahoo T, Sanders ME, Peters SU, Bejjani BA.
    BMC Med Genet; 2006 Feb 10; 7():8. PubMed ID: 16472378
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  • 9. 15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review.
    Benbouchta Y, De Leeuw N, Amasdl S, Sbiti A, Smeets D, Sadki K, Sefiani A.
    Ital J Pediatr; 2021 Sep 16; 47(1):188. PubMed ID: 34530895
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  • 12. 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 16; 13(9):1019-24. PubMed ID: 15986041
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  • 13. Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies.
    Thienpont B, Gewillig M, Fryns JP, Devriendt K, Vermeesch J.
    Cytogenet Genome Res; 2006 Sep 16; 114(3-4):338-41. PubMed ID: 16954676
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  • 18. Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case.
    Veredice C, Bianco F, Contaldo I, Orteschi D, Stefanini MC, Battaglia D, Lettori D, Guzzetta F, Zollino M.
    Epilepsia; 2009 Jul 16; 50(7):1810-5. PubMed ID: 19486360
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  • 19. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).
    Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS.
    J Med Genet; 2011 Nov 16; 48(11):761-6. PubMed ID: 21984749
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  • 20. 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 Nov 16; 54(5):e505-9. PubMed ID: 21736959
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