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Journal Abstract Search

135 related items for PubMed ID: 21548128

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  • 3. A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.
    Guion-Almeida ML, Zechi-Ceide RM, Vendramini S, Ju Nior AT.
    Clin Dysmorphol; 2006 Jul; 15(3):171-174. PubMed ID: 16760738
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  • 5. Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia.
    Ben-Zeev B, Hoffman C, Lev D, Watemberg N, Malinger G, Brand N, Lerman-Sagie T.
    J Med Genet; 2003 Aug; 40(8):e96. PubMed ID: 12920088
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  • 6. Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients.
    Guion-Almeida ML, Zechi-Ceide RM, Richieri-Costa A.
    Am J Med Genet; 1999 Nov 05; 87(1):72-7. PubMed ID: 10528252
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  • 7. A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.
    Vinkler C, Leshinsky-Silver E, Michelson M, Haas D, Lerman-Sagie T, Lev D.
    Eur J Med Genet; 2014 Nov 05; 57(6):288-92. PubMed ID: 24709618
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  • 8. A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.
    Carter MT, Geraghty MT, De La Cruz L, Reichard RR, Boccuto L, Schwartz CE, Clericuzio CL.
    Am J Med Genet A; 2011 Feb 05; 155A(2):301-6. PubMed ID: 21271646
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  • 9. Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
    Lehalle D, Gordon CT, Oufadem M, Goudefroye G, Boutaud L, Alessandri JL, Baena N, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Decaestecker C, Gaillard D, Goldenberg A, Gonzales M, Holder-Espinasse M, Jacquemont ML, Lacombe D, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Morin G, Pasquier L, Petit F, Rio M, Smigiel R, Thauvin-Robinet C, Vasiljevic A, Verloes A, Malan V, Munnich A, de Pontual L, Vekemans M, Lyonnet S, Attié-Bitach T, Amiel J.
    Hum Mutat; 2014 Apr 05; 35(4):478-85. PubMed ID: 24470203
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  • 10. Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.
    de Ru MH, Gille JJ, Nieuwint AW, Bijlsma JB, van der Blij JF, van Hagen JM.
    Am J Med Genet A; 2005 Aug 15; 137(1):81-7. PubMed ID: 16015581
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  • 12. A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.
    Heinritz W, Zweier C, Froster UG, Strenge S, Kujat A, Syrbe S, Rauch A, Schuster V.
    Am J Med Genet A; 2006 Jun 01; 140(11):1223-7. PubMed ID: 16688751
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  • 13. Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.
    McGaughran J, Sinnott S, Dastot-Le Moal F, Wilson M, Mowat D, Sutton B, Goossens M.
    Am J Med Genet A; 2005 Sep 01; 137A(3):302-4. PubMed ID: 16088920
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  • 14. Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation.
    Wieczorek D, Köster B, Gillessen-Kaesbach G.
    Am J Med Genet; 2002 Mar 15; 108(3):209-13. PubMed ID: 11891687
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  • 17. Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.
    Svensson AM, Curry CJ, South ST, Whitby H, Maxwell TM, Aston E, Fisher J, Carmack CE, Scheffer A, Abu-Shamsieh A, Brothman AR.
    Am J Med Genet A; 2007 Jun 15; 143A(12):1348-53. PubMed ID: 17506097
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  • 18. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
    McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J, FORGE Canada Consortium, Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM.
    Nat Genet; 2013 May 15; 45(5):556-62. PubMed ID: 23542699
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