C. Palka

发表

Non-invasive prenatal screening: A 20-year experience in Italy

G. Calabrese, M. Alfonsi, G. Palka, 2019, European journal of obstetrics & gynecology and reproductive biology: X.

De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects.

V. Gatta, L. Stuppia, G. Calabrese, 2013, Clinical dysmorphology.

Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures

A. Verrotti, G. Calabrese, M. Alfonsi, 2015, Cytogenetic and Genome Research.

Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?

V. Gatta, L. Stuppia, S. Tumini, 2019, Cytogenetic and Genome Research.

16p13.3 microduplication syndrome: A new characteristic case without intellectual disability

A. Mohn, G. Calabrese, M. Alfonsi, 2016 .

Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis

G. Calabrese, M. Alfonsi, D. Fantasia, 2017, PloS one.

Aneuploidy screening using circulating fetal cells in maternal blood by dual‐probe FISH protocol: a prospective feasibility study on a series of 172 pregnant women

C. Celentano, G. Calabrese, M. Alfonsi, 2016, Molecular genetics & genomic medicine.

A New Case of Pure Partial 7q Duplication

V. Gatta, R. Zori, S. Franchi, 2011, Cytogenetic and Genome Research.

Isolation and Enrichment of Circulating Fetal Cells for NIPD: An Overview

M. Alfonsi, D. Fantasia, Giulia Sabbatinelli, 2021, Diagnostics.

Reticulate Vascular Lesions and a Large Head

F. Brancati, B. Dallapiccola, R. Mingarelli, 2007, Pediatric dermatology.

Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus.

R. Zori, G. Calabrese, M. Alfonsi, 2011, European journal of medical genetics.

Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques.

L. Stuppia, G. Tiboni, I. Iezzi, 2005, Human reproduction.

Microsatellite polymorphism of the human leptin gene (LEP) and risk of cardiovascular disease

E. Porreca, F. Cuccurullo, V. Gatta, 2006, International Journal of Obesity.

Adenomatous polyposis coli protein deletion leads to cognitive and autism-like disabilities

P. Haydon, A. Pirone, L. Sy, 2014, Molecular Psychiatry.

A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man.

O. Zuffardi, V. Gatta, L. Stuppia, 2008, European journal of medical genetics.

A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome.

V. Gatta, L. Stuppia, O. Scarciolla, 2004, Mutation research.

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate

A. Novelli, A. Renieri, R. Genesio, 2019, Molecular genetics & genomic medicine.

Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation

A. Mohn, F. Chiarelli, G. Calabrese, 2012, Molecular Syndromology.

A Mosaic Ring Chromosome 21 in a Patient with Mild Intellectual Disability not Evidenced by Array-Cgh

Aless, R. Zori, G. Calabrese, 2013 .

Mosaic 7q31 Deletion Involving FOXP2 Gene Associated With Language Impairment

A. Mohn, R. Zori, L. Stuppia, 2012, Pediatrics.

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)

V. Gatta, L. Stuppia, A. Uncini, 2005, Human Genetics.

Cystic hygroma and mid-trimester maternal serum screening

F. Prefumo, M. Liberati, C. Celentano, 2007 .

Complex rearrangement of chromosomes 7q21.13‐q22.1 confirms the ectrodactyly‐deafness locus and suggests new candidate genes

B. Dallapiccola, L. Bernardini, R. Mingarelli, 2008, American journal of medical genetics. Part A.

Clinical Report Complex Rearrangement of Chromosome 7q21.13- q22.1 Confirms the Ectrodactyly-Deafness Locus and Suggests New Candidate Genes

B. Dallapiccola, L. Bernardini, R. Mingarelli, 2008 .

Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome

D. De Grandis, F. Brancati, A. Ferlini, 2010, Clinical genetics.

Lack of correlation between elevated maternal serum hCG during second‐trimester biochemical screening and fetal congenital anomaly

L. Stuppia, S. Rotmensch, M. Liberati, 2005, Prenatal diagnosis.

Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3

M. Alfonsi, G. Palka, C. Palka, 2018, Journal of Genetics.

Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3

M. Alfonsi, G. Palka, C. Palka, 2018, Journal of Genetics.

Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification

B. Dallapiccola, I. Torrente, P. Grammatico, 2006, Neurogenetics.

Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high‐risk pregnant women

G. Calabrese, P. Benn, I. Iezzi, 2011, Prenatal diagnosis.

Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson.

A. Mohn, F. Lalatta, M. Bedeschi, 2012, Clinical dysmorphology.

Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region

A. Mohn, V. Gatta, A. Cotroneo, 2014, BMC Medical Genetics.

Identification and characterization of different SHOX gene deletions in patients with Leri–Weill dyschondrosteosys by MLPA assay

V. Gatta, R. Fischetto, L. Stuppia, 2006, Journal of Human Genetics.

Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome.

V. Gatta, L. Stuppia, S. Tumini, 2008, Asian Journal of Andrology.

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs

Bruno Dallapiccola, Elisa Calzolari, Alessandra Ferlini, 2005, European Journal of Human Genetics.

An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations

C. Celentano, M. Alfonsi, G. Palka, 2016, Molecular Syndromology.