Anna Lisa Nucaro

@article{cianchetti_x-linked_2015,

title = {"X-linked mental retardation and conjuntival teleangectasias": correction of the previously reported karyotype},

author = {Carlo Cianchetti and Annalisa Nucaro},

doi = {10.1002/ajmg.a.36888},

issn = {1552-4833},

year  = {2015},

date = {2015-03-01},

journal = {American Journal of Medical Genetics. Part A},

volume = {167A},

number = {3},

pages = {677},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{cabras_ring_2012,

title = {Ring 20 syndrome mosaicism and epilepsy: a case with duplication of two BAC clones in 20q11.21-q11.22 defined by genome array-CGH},

author = {Valentina Cabras and Matteo Erriu and Mario Loi and Angela Milia and Caterina Montaldo and Anna Lisa Nucaro},

doi = {10.1136/jclinpath-2011-200573},

issn = {1472-4146},

year  = {2012},

date = {2012-09-01},

journal = {Journal of Clinical Pathology},

volume = {65},

number = {9},

pages = {851--853},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{cabras_cryptic_2012,

title = {Cryptic chromosome rearrangements in five patients, with normal and/or abnormal karyotypes, associated with mental retardation, autism and/or epilepsy, detected by BAC genome array-CGH},

author = {V Cabras and A Milia and C Montaldo and A Nucaro},

doi = {10.14712/23362936.2015.11},

issn = {1214-6994},

year  = {2012},

date = {2012-01-01},

journal = {Prague Medical Report},

volume = {113},

number = {4},

pages = {279--288},

abstract = {This report describes the usefulness of the BAC genome array-CGH platform in the detection of cryptic rearrangements. We examined ten patients with normal and/or abnormal karyotypes and dysmorphic features, associated with mental retardation, autism and/or epilepsy. This approach led us to discover further cryptic chromosomal rearrangements, not previously detected by conventional cytogenetic procedures, and allowed us to better delineate genotype/phenotype correlation. Our experience shows the validity of the BAC platform as a reliable method for genome-wide screening of chromosomal aberrations in patient with idiopathic mental retardation and/or in association with autism and epilepsy.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}