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Journal Abstract Search

385 related items for PubMed ID: 24780630

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  • 3. 12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
    Thevenon J, Callier P, Andrieux J, Delobel B, David A, Sukno S, Minot D, Mosca Anne L, Marle N, Sanlaville D, Bonnet M, Masurel-Paulet A, Levy F, Gaunt L, Farrell S, Le Caignec C, Toutain A, Carmignac V, Mugneret F, Clayton-Smith J, Thauvin-Robinet C, Faivre L.
    Eur J Hum Genet; 2013 Jan; 21(1):82-8. PubMed ID: 22713806
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  • 4. 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; 48(11):761-6. PubMed ID: 21984749
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  • 5. Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.
    Valetto A, Orsini A, Bertini V, Toschi B, Bonuccelli A, Simi F, Sammartino I, Taddeucci G, Simi P, Saggese G.
    Eur J Med Genet; 2012 May; 55(5):362-6. PubMed ID: 22548977
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  • 6. Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay.
    Papoulidis I, Paspaliaris V, Papageorgiou E, Siomou E, Dagklis T, Sotiriou S, Thomaidis L, Manolakos E.
    Cytogenet Genome Res; 2015 May; 145(1):19-24. PubMed ID: 25925190
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  • 7. 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; 49(12):731-6. PubMed ID: 23099646
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  • 8. Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment.
    Palka C, Alfonsi M, Mohn A, Cerbo R, Guanciali Franchi P, Fantasia D, Morizio E, Stuppia L, Calabrese G, Zori R, Chiarelli F, Palka G.
    Pediatrics; 2012 Jan; 129(1):e183-8. PubMed ID: 22144704
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  • 11. A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl.
    Belengeanu V, Gamage TH, Farcas S, Stoian M, Andreescu N, Belengeanu A, Frengen E, Misceo D.
    Gene; 2014 Apr 10; 539(1):168-72. PubMed ID: 24508274
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  • 12. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.
    Harvard C, Malenfant P, Koochek M, Creighton S, Mickelson EC, Holden JJ, Lewis ME, Rajcan-Separovic E.
    Clin Genet; 2005 Apr 10; 67(4):341-51. PubMed ID: 15733271
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  • 16. 372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.
    Marseglia G, Scordo MR, Pescucci C, Nannetti G, Biagini E, Scandurra V, Gerundino F, Magi A, Benelli M, Torricelli F.
    Eur J Med Genet; 2012 Mar 10; 55(3):216-21. PubMed ID: 22333924
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  • 19. De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features.
    Fabretto A, Santa Rocca M, Perrone MD, Skabar A, Pecile V, Gasparini P.
    Am J Med Genet A; 2012 Apr 10; 158A(4):882-7. PubMed ID: 22407795
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  • 20. Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism.
    Rocca MS, Faletra F, Devescovi R, Gasparini P, Pecile V.
    Eur J Med Genet; 2013 Jan 10; 56(1):62-5. PubMed ID: 23142270
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