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Journal Abstract Search

148 related items for PubMed ID: 22258158

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  • 2. 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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  • 3. 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
    Thevenon J, Callier P, Poquet H, Bache I, Menten B, Malan V, Cavaliere ML, Girod JP, Thauvin-Robinet C, El Chehadeh S, Pinoit JM, Huet F, Verges B, Petit JM, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Novelli A, Tümer Z, Loeys B, Lyonnet S, Faivre L.
    J Med Genet; 2014 Jan; 51(1):21-7. PubMed ID: 24133203
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  • 4. Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.
    Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.
    Genet Couns; 2005 Jan; 16(2):129-38. PubMed ID: 16080292
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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. De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.
    Becker K, Di Donato N, Holder-Espinasse M, Andrieux J, Cuisset JM, Vallée L, Plessis G, Jean N, Delobel B, Thuresson AC, Annerén G, Ravn K, Tümer Z, Tinschert S, Schrock E, Jønch AE, Hackmann K.
    Eur J Med Genet; 2012 May; 55(8-9):490-7. PubMed ID: 22561202
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  • 9. Array-based comparative genome hybridization in clinical genetics.
    Bar-Shira A, Rosner G, Rosner S, Goldstein M, Orr-Urtreger A.
    Pediatr Res; 2006 Sep; 60(3):353-8. PubMed ID: 16857771
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  • 13. 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 Sep; 145(1):19-24. PubMed ID: 25925190
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  • 15. A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.
    Preiksaitiene E, Männik K, Dirse V, Utkus A, Ciuladaite Z, Kasnauskiene J, Kurg A, Kučinskas V.
    Eur J Med Genet; 2012 Nov; 55(11):656-9. PubMed ID: 22842074
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  • 17. 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; 121(2):404-10. PubMed ID: 18245432
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  • 20. Structural chromosomal abnormalities in patients with mental retardation and/or multiple congenital anomalies: a new series of 24 patients.
    Tos T, Karaman A, Aksoy A, Tukun A.
    Genet Couns; 2012 Feb; 23(2):289-96. PubMed ID: 22876589
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