Orsetta Zuffardi

Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male.

Inverted duplications: how many of them are mosaic?

Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.

Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy.

Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease?

Presence of 1q gain and absence of 7p gain are new predictors of local or metastatic relapse in localized resectable neuroblastoma.

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.

Inverted duplications deletions: underdiagnosed rearrangements??

High-resolution genome-wide array comparative genomic hybridization in splenic marginal zone B-cell lymphoma.

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

Array technology in prenatal diagnosis.

The phenotype of recurrent 10q22q23 deletions and duplications.

XX males SRY negative: a confirmed cause of infertility.

Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer.

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion.

Unexpected results in the constitution of small supernumerary marker chromosomes.

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.

The introduction of arrays in prenatal diagnosis: a special challenge.

De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s.

MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

MEF2C deletions and mutations versus duplications: a clinical comparison.

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm.

Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene.

Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.

Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

MECP2 duplication phenotype in symptomatic females: report of three further cases.

PRKACB and Carney complex.

Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation.

Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature.

In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients.

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.

Genome-wide copy number analysis in pediatric glioblastoma multiforme.

Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion.

A newborn with ambiguous genitalia and a complex X;Y rearrangement.

APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes.

A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during Pregnancy.

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

Further delineation of the KAT6B molecular and phenotypic spectrum.

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.

Reply to Sajantila and Budowle.

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.

Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke.

Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia.

The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.

Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum.

Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature.

Formation of new chromatin domains determines pathogenicity of genomic duplications.

Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.

A Data Fusion Approach to Enhance Association Study in Epilepsy.

Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis.

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts.

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.

Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.

A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype.

Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.