THE USE OF ARRAY CGH IN A COHORT OF ALBANIAN CHILDREN WITH DEVELOPMENT DELAY/INTELLECTUAL DISABILITY, CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES

被引：0
|
作者：
Babameto-Laku, Anila [1 ]
Roko, Dorina [1 ]
Tabaku, Mirela [1 ]
Bali , Donjeta [2 ]
机构：
[1] Univ Hosp Ctr Mother Teresa, Fac Med, Dept Pediat, Serv Med Genet, Tirana, Albania
[2] Univ Hosp Ctr Mother Teresa, Fac Med, Dept Pediat, Serv Oncohematol, Tirana, Albania
来源：
EUROPEAN JOURNAL OF PEDIATRICS | 2017年 / 176卷 / 11期
关键词：
congenital anomalies; deletion; duplication; intellectual disability; karyotype; microarray comparative genomic hybridization;
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
476
引用
收藏
页码：1495 / 1495
页数：1
相关论文
共 50 条
  • [1] Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies
    Ivan Y Iourov
    Svetlana G Vorsanova
    Oxana S Kurinnaia
    Maria A Zelenova
    Alexandra P Silvanovich
    Yuri B Yurov
    Molecular Cytogenetics, 5
  • [2] Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies
    Iourov, Ivan Y.
    Vorsanova, Svetlana G.
    Kurinnaia, Oxana S.
    Zelenova, Maria A.
    Silvanovich, Alexandra P.
    Yurov, Yuri B.
    MOLECULAR CYTOGENETICS, 2012, 5
  • [3] Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies
    Uwineza, Annette
    Caberg, Jean-Hubert
    Hitayezu, Janvier
    Hellin, Anne Cecile
    Jamar, Mauricette
    Dideberg, Vinciane
    Rusingiza, Emmanuel K.
    Bours, Vincent
    Mutesa, Leon
    BMC MEDICAL GENETICS, 2014, 15
  • [4] Identification of Extremely Rare Pathogenic CNVs by Array CGH in Saudi Children with Developmental Delay, Congenital Malformations, and Intellectual Disability
    Karim, Sajjad
    Hussein, Ibtessam Ramzi
    Schulten, Hans-Juergen
    Alsaedi, Saad
    Mirza, Zeenat
    Al-Qahtani, Mohammed
    Chaudhary, Adeel
    CHILDREN-BASEL, 2023, 10 (04):
  • [5] Array CGH as a helpful diagnostic tool for increasing the detection of genetic causes of intellectual disability in children with congenital anomalies and normal karyotype
    Drozniewska, Malgorzata
    Bulb, A.
    Bancarz, M.
    Zuffardi, O.
    Haus, O.
    JOURNAL OF MEDICAL GENETICS, 2011, 48 : S87 - S87
  • [6] The use of array-CGH in a cohort of Greek children with developmental delay
    Manolakos, Emmanouil
    Vetro, Annalisa
    Kefalas, Konstantinos
    Rapti, Stamatia-Maria
    Louizou, Eirini
    Garas, Antonios
    Kitsos, George
    Vasileiadis, Lefteris
    Tsoplou, Panagiota
    Eleftheriades, Makarios
    Peitsidis, Panagiotis
    Orru, Sandro
    Liehr, Thomas
    Petersen, Michael B.
    Thomaidis, Loretta
    MOLECULAR CYTOGENETICS, 2010, 3
  • [7] The use of array-CGH in a cohort of Greek children with developmental delay
    Emmanouil Manolakos
    Annalisa Vetro
    Konstantinos Kefalas
    Stamatia-Maria Rapti
    Eirini Louizou
    Antonios Garas
    George Kitsos
    Lefteris Vasileiadis
    Panagiota Tsoplou
    Makarios Eleftheriades
    Panagiotis Peitsidis
    Sandro Orru
    Thomas Liehr
    Michael B Petersen
    Loretta Thomaidis
    Molecular Cytogenetics, 3
  • [8] 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.
    GENE, 2014, 536 (01) : 145 - 150
  • [9] Array CGH in patients with intellectual disability developmental delay our experience
    Perez-Granero, Angeles
    Antonia Grimalt, Maria
    Miravet, Elena
    Cordoba, Esther
    De Azua, Begona
    Rosell, Jordi
    MOLECULAR CYTOGENETICS, 2017, 10
  • [10] A Review of the Genomic Analysis of Children Presenting with Developmental Delay/Intellectual Disability and Associated Dysmorphic Features
    Vickers, Ramiah R.
    Gibson, Jane S.
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2019, 11 (01)
12345