Add to ORKGA newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks’ gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of a
Contains fulltext : 57198.pdf (publisher's version ) (Closed access
BACKGROUND: Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by inte...
The widespread use of Array Comparative Genomic Hybridization (aCGH) technology has enabled the iden...
Contains fulltext : 69185.pdf (publisher's version ) (Closed access
In a screening project of patients with (complex) craniosynostosis using genomic arrays, we identifi...
Recurrent deletions of the chromosomal region 15q24 have recently been identified as the underlying ...
International audienceBACKGROUND: Genome-wide screening of patients with mental retardation using ar...
International audienceBACKGROUND Genome-wide screening of large patient cohorts with mental retardat...
Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has orig...
Abstract Background The recurrent ∼ 600 kb 16p11.2 microdeletion is among the most commonly known ge...
BACKGROUND: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has orig...
Contains fulltext : 49646.pdf (publisher's version ) (Closed access)We report on a...
Contains fulltext : 57198.pdf (publisher's version ) (Closed access
BACKGROUND: Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by inte...
The widespread use of Array Comparative Genomic Hybridization (aCGH) technology has enabled the iden...
Contains fulltext : 69185.pdf (publisher's version ) (Closed access
In a screening project of patients with (complex) craniosynostosis using genomic arrays, we identifi...
Recurrent deletions of the chromosomal region 15q24 have recently been identified as the underlying ...
International audienceBACKGROUND: Genome-wide screening of patients with mental retardation using ar...
International audienceBACKGROUND Genome-wide screening of large patient cohorts with mental retardat...
Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has orig...
Abstract Background The recurrent ∼ 600 kb 16p11.2 microdeletion is among the most commonly known ge...
BACKGROUND: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has orig...
Contains fulltext : 49646.pdf (publisher's version ) (Closed access)We report on a...
Contains fulltext : 57198.pdf (publisher's version ) (Closed access
BACKGROUND: Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by inte...
The widespread use of Array Comparative Genomic Hybridization (aCGH) technology has enabled the iden...