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Journal Abstract Search

303 related items for PubMed ID: 27288323

  • 1. A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.
    Lebedev IN, Nazarenko LP, Skryabin NA, Babushkina NP, Kashevarova AA.
    Am J Med Genet A; 2016 Aug; 170(8):2089-96. PubMed ID: 27288323
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  • 2. 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; 161A(9):2327-33. PubMed ID: 23913759
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  • 3. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
    Bonnet C, Andrieux J, Béri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D.
    J Med Genet; 2010 Jun; 47(6):377-84. PubMed ID: 20522426
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  • 5. Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome.
    Komlósi K, Duga B, Hadzsiev K, Czakó M, Kosztolányi G, Fogarasi A, Melegh B.
    Mol Cytogenet; 2015 Jun; 8():16. PubMed ID: 25774221
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  • 7. Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.
    Tsang E, Rupps R, McGillivray B, Eydoux P, Marra M, Arbour L, Langlois S, Friedman JM, Zahir FR.
    Am J Med Genet A; 2012 Oct; 158A(10):2606-9. PubMed ID: 22903878
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  • 10. Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotype.
    Velinov M, Kupferman J, Gu H, Macera MJ, Babu A, Jenkins EC, Kupchik G.
    Eur J Med Genet; 2005 Oct; 48(1):51-5. PubMed ID: 15953406
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  • 13. [Array comparative genomic hybridization detection of a de novo 4q21.21-q22.1 deletion in a child with severe growth retardation].
    Zhou J, Hu P, Liu A, Li L, Ji X, Hui W, Wang Y, Xu Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Feb; 31(1):52-5. PubMed ID: 24510563
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  • 14. 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
    Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J.
    Eur J Med Genet; 2015 Mar; 58(3):140-7. PubMed ID: 25596525
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  • 19. 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; 56(1):62-5. PubMed ID: 23142270
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  • 20. Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.
    Naoufal R, Legendre M, Couet D, Gilbert-Dussardier B, Kitzis A, Bilan F, Harbuz R.
    Eur J Med Genet; 2016 Sep; 59(9):483-7. PubMed ID: 27452446
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