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Journal Abstract Search
368 related items for PubMed ID: 22534424
1. A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism. Jonsson DI, Ludvigsson P, Aradhya S, Sigurdardottir S, Steinarsdottir M, Hauksdottir H, Jonsson JJ. Eur J Med Genet; 2012 Jun; 55(6-7):437-40. PubMed ID: 22534424 [Abstract] [Full Text] [Related]
5. Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation. Wohlleber E, Kirchhoff M, Zink AM, Kreiss-Nachtsheim M, Küchler A, Jepsen B, Kjaergaard S, Engels H. Eur J Med Genet; 2011 Jun; 54(1):67-72. PubMed ID: 20950717 [Abstract] [Full Text] [Related]
6. 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 [Abstract] [Full Text] [Related]
8. A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia. Gimelli S, Makrythanasis P, Stouder C, Antonarakis SE, Bottani A, Béna F. Eur J Med Genet; 2011 Nov; 54(1):94-6. PubMed ID: 20933621 [Abstract] [Full Text] [Related]
12. [Phenotypic and genetic analysis of a girl with multiple congenital deformities due to 2p15-p16.1 microdeletion syndrome]. Wu D, Wang H, Zhang H, Hou Q, Qin L, Wang T, Xiao H, Liao S, Wang Y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Dec; 32(6):823-6. PubMed ID: 26663057 [Abstract] [Full Text] [Related]
14. Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation. Tsoutsou E, Tzetis M, Giannikou K, Syrmou A, Oikonomakis V, Kosma K, Kanioura A, Kanavakis E, Fryssira H. Eur J Paediatr Neurol; 2013 May; 17(3):316-20. PubMed ID: 23352671 [Abstract] [Full Text] [Related]
15. What can we learn from old microdeletion syndromes using array-CGH screening? Mosca-Boidron AL, Bouquillon S, Faivre L, Callier P, Andrieux J, Marle N, Bonnet C, Vincent-Delorme C, Berri M, Plessis G, Manouvrier-Hanu S, Dieux-Coeslier A, Thauvin-Robinet C, Pipiras E, Delahaye A, Payet M, Ragon C, Masurel-Paulet A, Questiaux E, Benzacken B, Jonveaux P, Mugneret F, Holder-Espinasse M. Clin Genet; 2012 Jul; 82(1):41-7. PubMed ID: 21722100 [Abstract] [Full Text] [Related]
16. A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation. Chen CP, Lin SP, Chern SR, Wu PS, Su JW, Lee CC, Wang W. Taiwan J Obstet Gynecol; 2014 Mar; 53(1):74-8. PubMed ID: 24767651 [Abstract] [Full Text] [Related]