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Journal Abstract Search

603 related items for PubMed ID: 17873649

  • 1. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
    Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T.
    Genet Med; 2007 Sep; 9(9):607-16. PubMed ID: 17873649
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  • 5. Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles.
    Serra G, Antona V, Giuffrè M, Piro E, Salerno S, Schierz IAM, Corsello G.
    Ital J Pediatr; 2022 Mar 04; 48(1):38. PubMed ID: 35246213
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  • 7. Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.
    Filges I, Röthlisberger B, Boesch N, Weber P, Wenzel F, Huber AR, Heinimann K, Miny P.
    Am J Med Genet A; 2010 Apr 04; 152A(4):987-93. PubMed ID: 20358614
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  • 9. Clinical characterization of DISP1 haploinsufficiency: A case report.
    Jun KR, Hur YJ, Lee JN, Kim HR, Shin JH, Oh SH, Lee JY, Seo EJ.
    Eur J Med Genet; 2013 Jun 04; 56(6):309-13. PubMed ID: 23542665
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  • 10. The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future.
    Shaffer LG, Bejjani BA, Torchia B, Kirkpatrick S, Coppinger J, Ballif BC.
    Am J Med Genet C Semin Med Genet; 2007 Nov 15; 145C(4):335-45. PubMed ID: 17910076
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  • 12. Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.
    Huynh MT, Gérard M, Ranguin K, Pichon O, Ghesh L, Alfallaj K, Joubert M, Bézieau S, Bénéteau C.
    Neurogenetics; 2021 Jul 15; 22(3):195-206. PubMed ID: 34132911
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  • 15. Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH.
    Kantarci S, Ackerman KG, Russell MK, Longoni M, Sougnez C, Noonan KM, Hatchwell E, Zhang X, Pieretti Vanmarcke R, Anyane-Yeboa K, Dickman P, Wilson J, Donahoe PK, Pober BR.
    Am J Med Genet A; 2010 Oct 15; 152A(10):2493-504. PubMed ID: 20799323
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  • 17. Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.
    Aradhya S, Manning MA, Splendore A, Cherry AM.
    Am J Med Genet A; 2007 Jul 01; 143A(13):1431-41. PubMed ID: 17568414
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  • 20. Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.
    Kantarci S, Casavant D, Prada C, Russell M, Byrne J, Haug LW, Jennings R, Manning S, Boyd TK, Fryns JP, Holmes LB, Donahoe PK, Lee C, Kimonis V, Pober BR.
    Am J Med Genet A; 2006 Jan 01; 140(1):17-23. PubMed ID: 16333846
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