M. Pantaleo

发表

Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1‐q44 duplication including the AKT3 gene

C. Barba, J. Gleeson, R. Guerrini, 2015, Clinical genetics.

Identification of a Deletion in Stxbp2 Causative of Familial Hemophagocytic Lymphohistiocytosis Type 5

S. Giglio, M. Aricò, G. Griffiths, 2015 .

A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: A long-term follow-up and literature review

S. Giglio, E. Lapi, M. Martino, 2014, Hormones.

Genome-wide copy number analysis in pediatric glioblastoma multiforme.

A. Magi, I. Sardi, A. Buccoliero, 2014, American journal of cancer research.

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes

B. Giusti, L. Garavelli, S. Giglio, 2020, Human Genetics.

Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype

F. Chiarelli, E. Lapi, M. de Martino, 2014, BMC Medical Genetics.

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

I. Sardi, A. Buccoliero, S. Giglio, 2016, American journal of cancer research.

Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome‐Associated Mutations

S. Mooney, S. Bianca, Biao Li, 2015, Human mutation.

Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis

S. Giglio, F. Chiarelli, E. Lapi, 2014, BMC Endocrine Disorders.

A unique neuroendocrine cell model derived from the human foetal neural crest

A. Peri, E. Sarchielli, G. Vannelli, 2020, Journal of Endocrinological Investigation.

A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review

M. Carella, L. Zelante, E. Lapi, 2015, BMC Medical Genetics.

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.

E. Mancini, S. Andrulli, L. Garavelli, 2017, Kidney international.

Agenesis of internal carotid artery associated with isolated growth hormone deficiency: a case report and literature review

E. Lapi, M. de Martino, M. Mortilla, 2015, BMC Endocrine Disorders.

Clinical and genetic study of a family with a paternally inherited 15q11–q13 duplication

M. Genuardi, R. Guerrini, S. Giglio, 2013, American journal of medical genetics. Part A.

Bone Status in a Patient with Insulin-Like Growth Factor-1 Receptor Deletion Syndrome: Bone Quality and Structure Evaluation Using Dual-Energy X-Ray Absorptiometry, Peripheral Quantitative Computed Tomography, and Quantitative Ultrasonography

A. Verrotti, E. Lapi, M. de Martino, 2017, Front. Endocrinol..

Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission

A. Tessa, F. Santorelli, R. Battini, 2021, Journal of Medical Genetics.

Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome‐Associated Mutations

S. Mooney, S. Bianca, Biao Li, 2015, Human mutation.

Diagnostic implications of genetic copy number variation in epilepsy plus

H. Mefford, P. Stankiewicz, L. Lagae, 2019, Epilepsia.