Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies

Molecular and clinical characterization of patients with a ring chromosome 11

(2012) Kerstin B.M. Hansson et al.   European Journal of Medical Genetics

335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features

(2012) Viola Alesi et al.   GENE

Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination

(2012) Keiko Shimojima et al.   JOURNAL OF HUMAN GENETICS

Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research

(2011) R. Hochstenbach et al.   CYTOGENETIC AND GENOME RESEARCH

Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions

(2011) Diana Mitter et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

(2011) A. W. El-Hattab et al.   JOURNAL OF MEDICAL GENETICS

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

(2010) Maila Giannandrea et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic Genome Variations in Health and Disease

(2010) I. Iourov et al.   CURRENT GENOMICS

Molecular Cytogenetic Diagnosis and Somatic Genome Variations

(2010) S. Vorsanova et al.   CURRENT GENOMICS

19p13.3 Aberrations Are Associated with Dysmorphic Features and Deviant Psychomotor Development

(2010) L. Siggberg et al.   CYTOGENETIC AND GENOME RESEARCH

Human interphase chromosomes: a review of available molecular cytogenetic technologies

(2010) Svetlana G Vorsanova et al.   Molecular Cytogenetics

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

(2009) Gurdeep S Sagoo et al.   GENETICS IN MEDICINE

Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain

(2009) Ivan Y. Iourov et al.   HUMAN MOLECULAR GENETICS

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation

(2009) V Malan et al.   JOURNAL OF MEDICAL GENETICS

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

(2009) L. E. L. M. Vissers et al.   JOURNAL OF MEDICAL GENETICS

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature review

(2008) Marcella Zollino et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Clinical Utility of Contemporary Molecular Cytogenetics

(2008) Bassem A. Bejjani et al.   Annual Review of Genomics and Human Genetics

Molecular Cytogenetics and Cytogenomics of Brain Diseases

(2008) I. Iourov et al.   CURRENT GENOMICS

Novel microdeletion syndromes detected by chromosome microarrays

(2008) Anne M. Slavotinek   HUMAN GENETICS

Genome profiling of ovarian adenocarcinomas using pangenomic BACs microarray comparative genomic hybridization

(2008) Donatella Caserta et al.   Molecular Cytogenetics

Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature

(2008) Svetlana G Vorsanova et al.   Molecular Cytogenetics

Chromosomal mosaicism goes global

(2008) Ivan Y Iourov et al.   Molecular Cytogenetics