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Journal Abstract Search

519 related items for PubMed ID: 24133203

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  • 23. A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review.
    Schwaibold EM, Zoll B, Burfeind P, Hobbiebrunken E, Wilken B, Funke R, Shoukier M.
    Am J Med Genet A; 2013 Oct; 161A(10):2634-40. PubMed ID: 23949945
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  • 24. Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome.
    Dasouki M, Roberts J, Santiago A, Saadi I, Hovanes K.
    Eur J Med Genet; 2014 Feb; 57(2-3):76-80. PubMed ID: 24462885
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  • 25. A patient with 9q subtelomeric deletion syndrome with additional findings.
    Tug E, Cavdarli B, Karaoguz MY, Percin FE.
    Genet Couns; 2012 Feb; 23(4):465-71. PubMed ID: 23431745
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  • 26. 263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.
    Kousoulidou L, Tanteles G, Moutafi M, Sismani C, Patsalis PC, Anastasiadou V.
    Eur J Med Genet; 2013 Jun; 56(6):314-8. PubMed ID: 23528641
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  • 30. 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; 161A(11):2890-3. PubMed ID: 24127197
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  • 31. Partial monosomy 3q26.33-3q27.3 presenting with intellectual disability, facial dysmorphism, and diaphragm eventration: a case report.
    Şahin Y, Kiper PÖ, Alanay Y, Liehr T, Utine GE, Boduroğlu K.
    Clin Dysmorphol; 2014 Oct; 23(4):147-51. PubMed ID: 25144152
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  • 32. A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion.
    Rodríguez L, Bhatt SS, García-Castro M, Plasencia A, Fernández-Toral J, Abarca E, de Bello Cioffi M, Liehr T.
    Gene; 2014 Feb 10; 535(2):165-9. PubMed ID: 24316129
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  • 33. 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 10; 121(2):404-10. PubMed ID: 18245432
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  • 34. Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype.
    Ponzi E, Asaro A, Orteschi D, Genuardi M, Zollino M, Gurrieri F.
    Eur J Med Genet; 2015 Aug 10; 58(8):400-5. PubMed ID: 26117585
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  • 35. 8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.
    Lipska BS, Brzeskwiniewicz M, Wierzba J, Morzuchi L, Piotrowski A, Limon J.
    Genet Couns; 2011 Aug 10; 22(4):353-63. PubMed ID: 22303795
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  • 36. Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.
    Vuillaume ML, Delrue MA, Naudion S, Toutain J, Fergelot P, Arveiler B, Lacombe D, Rooryck C.
    Mol Genet Metab; 2013 Aug 10; 110(1-2):90-7. PubMed ID: 23920044
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  • 37. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
    Courcet JB, Faivre L, Malzac P, Masurel-Paulet A, Lopez E, Callier P, Lambert L, Lemesle M, Thevenon J, Gigot N, Duplomb L, Ragon C, Marle N, Mosca-Boidron AL, Huet F, Philippe C, Moncla A, Thauvin-Robinet C.
    J Med Genet; 2012 Dec 10; 49(12):731-6. PubMed ID: 23099646
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  • 38. Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29.
    Chabchoub E, Cogulu O, Durmaz B, Vermeesch JR, Ozkinay F, Fryns JP.
    Dermatology; 2011 Dec 10; 223(4):306-10. PubMed ID: 22327602
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  • 39. Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy.
    Nguyen-Minh S, Drossel K, Horn D, Rost I, Spors B, Kaindl AM.
    Gene; 2013 Jul 01; 523(1):92-8. PubMed ID: 23566840
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  • 40. Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.
    Tomaszewska A, Podbiol-Palenta A, Boter M, Geisler G, Wawrzkiewicz-Witkowska A, Galjaard RJ, Zajączek S, Srebniak MI.
    Am J Med Genet A; 2013 Sep 01; 161A(9):2347-51. PubMed ID: 23918240
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