p11.2 CNVs detected by Array-CGH in a cohort of patients with intellectual disability, autism spectrum and obesity

被引：0
|
作者：
Carreira, I. M. [1 ,2 ,3 ]
Rosmaninho-Salgado, J. [4 ]
Pires, L. M. [1 ]
Saraiva, J. M. [4 ,5 ]
Sousa, S. B. [4 ,6 ]
Melo, J. B. [1 ,2 ,3 ]
机构：
[1] Univ Coimbra, Fac Med, Lab Citogenet & Genom, Coimbra, Portugal
[2] Univ Coimbra, Fac Med, CIMAGO, iCBR, Coimbra, Portugal
[3] Univ Coimbra, IBILI, CNC, Coimbra, Portugal
[4] Ctr Hosp & Univ Coimbra, Hosp Pediat, Serv Genet Med, Coimbra, Portugal
[5] Univ Coimbra, Fac Med, Clin Univ Pediat, Coimbra, Portugal
[6] Univ Coimbra, Fac Med, Inst Genet Med, Coimbra, Portugal
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
E-P08.0516
引用
收藏
页码：942 / 943
页数：2
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共 32 条
  • [1] Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH
    Tyson, C
    Harvard, C
    Locker, R
    Friedman, JM
    Langlois, S
    Lewis, MES
    Van Allen, M
    Somerville, M
    Arbour, L
    Clarke, L
    McGilivray, B
    Yong, SL
    Siegel-Bartel, J
    Rajcan-Separovic, E
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 139A (03) : 173 - 185
  • [2] Origin of genomic imbalances detected by array-CGH in children with intellectual disability
    Drozniewska, Malgorzata
    Zuffardi, O.
    Haus, O.
    [J]. JOURNAL OF MEDICAL GENETICS, 2012, 49 : S57 - S57
  • [3] Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil
    Vianna, G. S.
    Medeiros, P. F. V.
    Alves, A. F.
    Silva, T. O.
    Jehee, F. S.
    [J]. GENETICS AND MOLECULAR RESEARCH, 2016, 15 (01)
  • [4] Array-CGH Analysis of a Cohort of 86 Patients With Oculoauriculovertebral Spectrum
    Rooryck, Caroline
    Souakri, Noui
    Cailley, Dorothee
    Bouron, Julie
    Goizet, Cyril
    Delrue, Marie-Ange
    Marlin, Sandrine
    Lacombe, Feclad Didier
    Arveiler, Benoit
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (08) : 1984 - 1989
  • [5] Microdeletion of 15q24 detected by Array-CGH technique, in an Iranian patient with intellectual disability, autism, seizures, and dysmorphism
    Behjati, Farkhondeh
    Firouzabadi, Saghar Ghasemi
    Kariminejad, Roxana
    Vameghi, Roshanak
    Najmabadi, Hossein
    [J]. CHROMOSOME RESEARCH, 2015, 23 : S35 - S35
  • [6] Multiple microdeletions in a patient with intellectual disability and autism spectrum disorder detected using a 1 Mb CGH array
    Harvard, C
    Malenfant, P
    Koochek, M
    Holden, JJA
    Lewis, MES
    Rajcan-Separovic, E
    [J]. CYTOGENETIC AND GENOME RESEARCH, 2004, 106 (01) : 129 - 129
  • [7] Array CGH analysis of a cohort of Russian patients with intellectual disability
    Kashevarova, Anna A.
    Nazarenko, Lyudmila P.
    Skryabin, Nikolay A.
    Salyukova, Olga A.
    Chechetkina, Nataliya N.
    Tolmacheva, Ekaterina N.
    Sazhenova, Elena A.
    Magini, Pamela
    Graziano, Claudio
    Romeo, Giovanni
    Kucinskas, Vaidutis
    Lebedev, Igor N.
    [J]. GENE, 2014, 536 (01) : 145 - 150
  • [8] New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants
    Cappuccio, Gerarda
    Vitiello, Francesco
    Casertano, Alberto
    Fontana, Paolo
    Genesio, Rita
    Bruzzese, Dario
    Ginocchio, Virginia Maria
    Mormile, Angela
    Nitsch, Lucio
    Andria, Generoso
    Melis, Daniela
    [J]. ITALIAN JOURNAL OF PEDIATRICS, 2016, 42
  • [9] New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants
    Gerarda Cappuccio
    Francesco Vitiello
    Alberto Casertano
    Paolo Fontana
    Rita Genesio
    Dario Bruzzese
    Virginia Maria Ginocchio
    Angela Mormile
    Lucio Nitsch
    Generoso Andria
    Daniela Melis
    [J]. Italian Journal of Pediatrics, 42
  • [10] Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders
    Napoli, Eleonora
    Russo, Serena
    Casula, Laura
    Alesi, Viola
    Amendola, Filomena Alessandra
    Angioni, Adriano
    Novelli, Antonio
    Valeri, Giovanni
    Menghini, Deny
    Vicari, Stefano
    [J]. JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 2018, 48 (02) : 442 - 449
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