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Journal Abstract Search

216 related items for PubMed ID: 28125439

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  • 24. Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.
    Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, Levin AV, Selicorni A.
    Am J Med Genet A; 2007 Jun 15; 143A(12):1287-96. PubMed ID: 17508425
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  • 25. Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome.
    Avagliano L, Grazioli P, Mariani M, Bulfamante GP, Selicorni A, Massa V.
    Orphanet J Rare Dis; 2017 Nov 21; 12(1):174. PubMed ID: 29162129
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  • 27. Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
    Parenti I, Gervasini C, Pozojevic J, Graul-Neumann L, Azzollini J, Braunholz D, Watrin E, Wendt KS, Cereda A, Cittaro D, Gillessen-Kaesbach G, Lazarevic D, Mariani M, Russo S, Werner R, Krawitz P, Larizza L, Selicorni A, Kaiser FJ.
    Clin Genet; 2016 Jan 21; 89(1):74-81. PubMed ID: 25652421
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  • 28. Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.
    Minor A, Shinawi M, Hogue JS, Vineyard M, Hamlin DR, Tan C, Donato K, Wysinger L, Botes S, Das S, Del Gaudio D.
    Gene; 2014 Mar 10; 537(2):279-84. PubMed ID: 24378232
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  • 29. Visual attention patterns during a gaze following task in neurogenetic syndromes associated with unique profiles of autistic traits: Fragile X and Cornelia de Lange syndromes.
    Ellis K, White S, Dziwisz M, Agarwal P, Moss J.
    Cortex; 2024 May 10; 174():110-124. PubMed ID: 38502976
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  • 30. An Observational Study of Social Interaction Skills and Behaviors in Cornelia de Lange, Fragile X and Rubinstein-Taybi Syndromes.
    Ellis K, Oliver C, Stefanidou C, Apperly I, Moss J.
    J Autism Dev Disord; 2020 Nov 10; 50(11):4001-4010. PubMed ID: 32189229
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  • 31. Cornelia de Lange syndrome: a case study.
    Benson M.
    Neonatal Netw; 2002 Apr 10; 21(3):7-13. PubMed ID: 12943206
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  • 33. [Interpretation of the first international consensus for Cornelia de Lange syndrome].
    Zhou P, Zhu L, Fan QL, Chen L.
    Zhongguo Dang Dai Er Ke Za Zhi; 2020 Aug 10; 22(8):815-820. PubMed ID: 32800026
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  • 34. Delineating the profile of autism spectrum disorder characteristics in Cornelia de Lange and Fragile X syndromes.
    Moss J, Oliver C, Nelson L, Richards C, Hall S.
    Am J Intellect Dev Disabil; 2013 Jan 10; 118(1):55-73. PubMed ID: 23301903
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  • 35. [Systemic and ophthalmological findings in Cornelia de Lange syndrome].
    Mrugacz M, Sielicka D.
    Klin Oczna; 2012 Jan 10; 114(1):68-70. PubMed ID: 22783750
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  • 36. Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant.
    Hague J, Twiss P, Mead Z, Park SM.
    Pediatr Dev Pathol; 2019 Oct 10; 22(5):475-479. PubMed ID: 30890023
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  • 37. The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study.
    Ajmone PF, Giani L, Allegri B, Michelini G, Dall'Ara F, Rigamonti C, Monti F, Vizziello PG, Selicorni A, Milani D, Scaini S, Costantino A.
    Am J Med Genet A; 2023 Feb 10; 191(2):424-436. PubMed ID: 36373849
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  • 38. Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation.
    Ajmone PF, Allegri B, Cereda A, Michelini G, Dall'Ara F, Mariani M, Rigamonti C, Selicorni A, Vizziello P, Costantino MA.
    J Autism Dev Disord; 2022 Nov 10; 52(11):4763-4773. PubMed ID: 34751866
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  • 39. [Cornelia de Lange syndrome: report of a case and the review of literature on 17 cases].
    Hei MY, Chen J, Wu LQ, Yu B, Tan YJ, Zhao LL.
    Zhonghua Er Ke Za Zhi; 2012 Aug 10; 50(8):606-11. PubMed ID: 23158739
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  • 40. Mild Brachmann-de Lange syndrome. Delineation of the clinical phenotype, and characteristic behaviors in a six-year-old boy.
    Bay C, Mauk J, Radcliffe J, Kaplan P.
    Am J Med Genet; 1993 Nov 15; 47(7):965-8. PubMed ID: 7507294
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