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Journal Abstract Search

278 related items for PubMed ID: 35246213

  • 1. 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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  • 2. 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 04; 9(9):607-16. PubMed ID: 17873649
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  • 3. Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature.
    Rivera-Pedroza CI, Barraza-García J, Paumard-Hernández B, Nevado J, Orbea-Gallardo C, Sánchez Del Pozo J, Heath KE.
    Mol Syndromol; 2017 Jan 04; 8(1):30-35. PubMed ID: 28232780
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  • 4. Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment.
    Tassano E, Gamucci A, Celle ME, Ronchetto P, Cuoco C, Gimelli G.
    Cytogenet Genome Res; 2015 Jan 04; 146(1):39-43. PubMed ID: 26112959
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  • 5. Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large family.
    Marangi G, Orteschi D, Milano V, Mancano G, Zollino M.
    Am J Med Genet A; 2013 Nov 04; 161A(11):2890-3. PubMed ID: 24127197
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  • 6. Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.
    Bhoj E, Halbach S, McDonald-McGinn D, Tan C, Lande R, Waggoner D, Zackai E.
    Am J Med Genet A; 2013 Sep 04; 161A(9):2327-33. PubMed ID: 23913759
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  • 7. Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?
    Yu AC, Zambrano RM, Cristian I, Price S, Bernhard B, Zucker M, Venkateswaran S, McGowan-Jordan J, Armour CM.
    Am J Med Genet A; 2017 Jun 04; 173(6):1593-1600. PubMed ID: 28440577
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  • 8. Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones.
    Chen CP, Chen CY, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Yang CW, Chen LF, Wang W.
    Taiwan J Obstet Gynecol; 2017 Dec 04; 56(6):821-826. PubMed ID: 29241927
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  • 10. Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome.
    Callier P, Faivre L, Thauvin-Robinet C, Marle N, Mosca AL, D'Athis P, Guy J, Masurel-Paulet A, Joly L, Guiraud S, Teyssier JR, Huet F, Mugneret F.
    Am J Med Genet A; 2008 Aug 15; 146A(16):2109-15. PubMed ID: 18629884
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  • 11. Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene.
    Serra G, Felice S, Antona V, Di Pace MR, Giuffrè M, Piro E, Corsello G.
    Ital J Pediatr; 2022 May 04; 48(1):65. PubMed ID: 35509048
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  • 14. Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.
    Roberti MC, Surace C, Digilio MC, D'Elia G, Sirleto P, Capolino R, Lombardo A, Tomaiuolo AC, Petrocchi S, Angioni A.
    Orphanet J Rare Dis; 2011 Apr 19; 6():17. PubMed ID: 21504564
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  • 16. NF1 microdeletion syndrome: case report of two new patients.
    Serra G, Antona V, Corsello G, Zara F, Piro E, Falsaperla R.
    Ital J Pediatr; 2019 Nov 08; 45(1):138. PubMed ID: 31703719
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