F. T. Papa

发表

13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay

T. Hadjistilianou, D. Galimberti, A. Pinto, 2021, Genes.

Clinical and molecular characterization of Italian patients affected by Cohen syndrome

R. Tenconi, A. Federico, F. Brancati, 2007, Journal of Human Genetics.

Investigation of modifier genes within copy number variations in Rett syndrome

J. LaSalle, A. Renieri, M. Mucciolo, 2011, Journal of Human Genetics.

Low‐level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia

A. Pinto, C. Fallerini, D. Lopergolo, 2019, British journal of haematology.

Analysis of the Phenotypes in the Rett Networked Database

A. Vignoli, A. Clarke, J. Armstrong, 2019, International journal of genomics.

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

R. Pfundt, T. Kleefstra, A. Renieri, 2009, European journal of medical genetics.

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett‐like features

A. Renieri, F. Mari, P. Balestri, 2008, American journal of medical genetics. Part A.

Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients

N. Philip, A. Renieri, F. Mari, 2010, American journal of medical genetics. Part A.

Delineation of the phenotype associated with 7q36.1q36.2 deletion: Long QT syndrome, renal hypoplasia and mental retardation

A. Renieri, F. Mari, S. Vicari, 2008, American journal of medical genetics. Part A.

Expanding the phenotype of 22q11 deletion syndrome: the MURCS association

C. Marcocci, A. Renieri, F. Mari, 2008, Clinical dysmorphology.

Interpretation of molecular imbalances detected by array-CGH analysis

F. T. Papa, 2010 .

Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes

A. Pinto, F. Fava, Aurora Currò, 2021, Frontiers in Oncology.

Private inherited microdeletion/microduplications: implications in clinical practice.

A. Renieri, R. Canitano, F. Mari, 2008, European Journal of Medical Genetics.

Array comparative genomic hybridization in retinoma and retinoblastoma tissues

A. Acquaviva, T. Hadjistilianou, M. C. Epistolato, 2009, Cancer science.

AAV-mediated FOXG1 gene editing in human Rett primary cells

S. Furini, D. Lopergolo, A. Renieri, 2020, European Journal of Human Genetics.

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

J. Crolla, A. Collins, B. Gener, 2012, European journal of medical genetics.

Investigation of modifier genes within copy number variations in Rett syndrome

J. LaSalle, A. Renieri, M. Mucciolo, 2011, Journal of Human Genetics.

A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb.

A. Renieri, F. Mari, P. Balestri, 2009, European journal of medical genetics.

3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age.

A. Renieri, M. Mucciolo, F. Mari, 2010, European journal of medical genetics.

A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears.

A. Renieri, F. Mari, R. Caselli, 2007, European journal of medical genetics.

MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype.

Aurora Currò, A. Renieri, F. Mari, 2019, European journal of medical genetics.

Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy

C. Fallerini, A. Renieri, F. Mari, 2017, Clinical dysmorphology.

Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG

A. Renieri, M. Iester, P. Frezzotti, 2010, British Journal of Ophthalmology.

Private inherited microdeletion/microduplications: implications in clinical practice.

A. Renieri, R. Canitano, F. Mari, 2008, European journal of medical genetics.

Delineation of the phenotype associated with 7q36.1q36.2 deletion: Long QT syndrome, renal hypoplasia and mental retardation

A. Renieri, F. Mari, S. Vicari, 2008, American journal of medical genetics. Part A.

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

A. Pinto, C. Thauvin-Robinet, C. Fallerini, 2024, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.