about
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)Jacobsen syndrome.Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome.Craniofacial characteristics of fragile X syndrome in mouse and man.The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome.Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function.Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1.Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation.SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)[Coarctation of the aorta with aortic arch hypoplasia in newborn with partial trisomy 11q associated to 4q interstitial deletion]Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variantsSmall supernumerary marker chromosomes: A legacy of trisomy rescue?Small 4p16.3 deletions: Three additional patients and review of the literatureGrowth hormone, gender and face shape in prader-willi syndromeDuplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formationNarrowing the deleted region associated with the 15q21 syndromeMild cystic fibrosis in patients with the rare P5L CFTR mutationClinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical settingBiallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorderMutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variantsMelorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case SeriesPhenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic HypothesisPartial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21Gene-targeted deletion in mice of the Ets-1 transcription factor, a candidate gene in the Jacobsen syndrome kidney "critical region," causes abnormal kidney developmentTwins with acardia and anencephaly
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description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Mattina T
@nl
Teresa Mattina
@en
type
label
Mattina T
@nl
Teresa Mattina
@en
altLabel
Mattina T
@en
prefLabel
Mattina T
@nl
Teresa Mattina
@en
P31
P496
0000-0001-6143-6682