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Last 10y

Telomere length as a genomic biomarker for assessing microplastic-induced damage in farmed gilthead sea bream Open

A. Iannuzzi, Sara Albarella, Filomena Del Piano, Ramona Pistucci, P. Parma , et al. · 2025

Microplastics are widespread pollutants in aquatic environments and pose significant risks to aquatic organisms, including species vital to aquaculture. The gilthead sea bream, extensively farmed in the Mediterranean, is frequently exposed…

Cytogenetic Screening on Mediterranean Italian River Buffalo Males Intended for Reproduction and Females with Fertility Issues—A Pilot Study Open

A. Perucatti, F. Ciotola, Ramona Pistucci, Sara Albarella, V. Genualdo , et al. · 2025

In Italy, karyotype analysis is routinely performed on all young males intended for reproduction to screen for chromosome abnormalities. This practice gained prominence following the identification of a complex chromosome abnormality in a …

Comparative analysis of cattle (Bos taurus, 2n = 60) and river buffalo (Bubalus bubalis, 2n = 50) genome assemblies reveals two evolutionary conserved inversions and invalid centromere–telomere orientation of some autosomes Open

Ramona Pistucci, Ilaria Cascone, A. Iannuzzi, Sara Albarella, Wiktoria Kowal‐Mierzwa , et al. · 2025

This study investigates autosome evolution between river buffalo ( Bubablus bubalis , BBU) and cattle ( Bos taurus , BTA), two closely related species within the Bovidae family. Despite differences in chromosome numbers (2 n = 60 in cattle…

SNP-based diagnosis of robertsonian translocation 1;29 in Italian cattle breeds: frequency estimation and efficient detection Open

Arianna Bionda, Matteo Cortellari, Alberto Cesarani, Fiorella Sbarra, Andrea Quaglia , et al. · 2025

Robertsonian translocation 1;29 (rob(1;29)) is the most widespread chromosomal aberration in cattle, known to cause fertility impairment in heterozygous carriers. While karyological screening programs exist for some breeds, the analysis of…

Alternative Agents to Colcemid for Obtaining High-Quality Metaphase Spreads Open

M. Zannotti, Marco Battelli, P. Parma · 2025

In cytogenetics, the ability to perform FISH (Fluorescence In Situ Hybridization) experiments using probes that map very closely together depends on the capacity to produce sufficiently long chromosomes. Traditionally, colcemid is the chem…

A genomic biomarker for the rapid identification of the rob(1;29) translocation in beef cattle breeds Open

A. Iannuzzi, S. Demyda‐Peyrás, Ramona Pistucci, Rosa Morales, M. Zannotti , et al. · 2024

Identification of a common haplotype in carriers of rob(1;29) in 32 Italian cattle breeds Open

Matteo Cortellari, Arianna Bionda, Luigi Liotta, Fiorella Sbarra, P. Parma , et al. · 2024

In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex Development Open

Veronica Bertini, Fulvia Baldinotti, P. Parma, Nina Tyutyusheva, Margherita Sepich , et al. · 2023

Disorders of sexual development (DSDs) encompass a group of congenital conditions associated with atypical development of internal and external genital structures. Among those with DSDs are 46,XX males, whose condition mainly arises due to…

Characterization of Robertsonian and Reciprocal Translocations in Cattle through NGS Open

A. Iannuzzi, Ramona Pistucci, A. Perucatti, M. Zannotti, L. Iannuzzi , et al. · 2023

This study presents a novel approach that combines next-generation sequencing (NGS) and cytogenetic technologies for identifying chromosomes involved in chromosomal anomalies. This research focuses on a chromosome anomaly discovered in mal…

Demonstration of Parthenogenetic Reproduction in a Pet Ball Python (Python regius) through Analysis of Early-Stage Embryos Open

Francesco Di Ianni, Sara Albarella, Alessandro Vetere, Marco Torcello, Michela Ablondi , et al. · 2023

Parthenogenesis is an asexual form of reproduction, normally present in various animal and plant species, in which an embryo is generated from a single gamete. Currently, there are some species for which parthenogenesis is supposed but not…

Exploratory study on the sperm ratio in dogs: repeatability over time and some reproductive effects. Open

P. Parma, D. Groppetti, Lisa De Lorenzi, V. Bronzo, Isabella Vera d'Aragona , et al. · 2023

Mechanisms that regulate sexual chromosome distribution in the canine ejaculate are not quite understood with no data about both its variation over time and the effect on reproductive parameters. With the aim to deepen these aspects, ten p…

Molecular Cytogenetics in Domestic Bovids: A Review Open

A. Iannuzzi, L. Iannuzzi, P. Parma · 2023

The discovery of the Robertsonian translocation (rob) involving cattle chromosomes 1 and 29 and the demonstration of its deleterious effects on fertility focused the interest of many scientific groups on using chromosome banding techniques…

Characterization of telomere length in Agerolese cattle breed, correlating blood and milk samples Open

A. Iannuzzi, Sara Albarella, P. Parma, Giacomo Galdiero, Emanuele D’Anza , et al. · 2022

Studies into telomere length in cattle are relatively recent and have focused mainly on the Holstein Friesian cattle breed, making it arduous to evaluate the correlation with ageing due to the early age of culling in this breed. Telomere l…

The Cytogenetics of the Water Buffalo: A Review Open

A. Iannuzzi, P. Parma, L. Iannuzzi · 2021

The water buffalo (Bubalus bubalis), also known as the Asian buffalo, is an essential domestic bovid. Indeed, although its world population (~209 million heads) is approximately one-ninth that of cattle, the management of this species invo…

Chromosome Abnormalities and Fertility in Domestic Bovids: A Review Open

A. Iannuzzi, P. Parma, L. Iannuzzi · 2021

After discovering the Robertsonian translocation rob(1;29) in Swedish red cattle and demonstrating its harmful effect on fertility, the cytogenetics applied to domestic animals have been widely expanded in many laboratories in order to fin…

Analysis of XX SRY-Negative Sex Reversal Dogs Open

Sara Albarella, Lisa De Lorenzi, Elena Rossi, Francesco Prisco, Marita Georgia Riccardi , et al. · 2020

Impaired fertility associated with disorders of sex development (DSDs) due to genetic causes in dogs are more and more frequently reported. Affected dogs are usually of specific breeds thus representing a cause of economic losses for breed…

Analysis of meiotic segregation by triple-color fish on both total and motile sperm fractions in a t(1p;18) river buffalo bull Open

Chiara Di Dio, Valentina Longobardi, G. Zullo, P. Parma, Alfredo Pauciullo , et al. · 2020

Chromosomal aberrations are relatively frequent pathologies in both humans and animals. Among them, translocations present a specific meiotic segregation pattern able to give a higher percentage of unbalanced gametes that can induce fertil…

Cytogenetic Characterization of a Small Evolutionary Rearrangement Involving Chromosomes BTA21 and OAR18 Open

Lisa De Lorenzi, Alfredo Pauciullo, A. Iannuzzi, P. Parma · 2020

Both cattle (Bos taurus) and sheep (Ovis aries) belong to the Bovidae family but to different subfamilies, Bovinae and Caprinae, respectively. From a chromosomal point of view, apart from the already known centric fusions (th…

Identification of Some Errors in the Genome Assembly of Bovidae by FISH Open

Lisa De Lorenzi, P. Parma · 2020

From an economic point of view, Bovidae represent the most important family of the Ruminantia suborder. Thus, the mitochondrial and nuclear genomes of Bos taurus were among the first genomes to be sequenced after the sequencing of t…

Diagnosis of XX/XY Blood Cell Chimerism at a Low Percentage in Horses Open

Sara Albarella, Lisa De Lorenzi, Giuseppe Catone, Gian Enrico Magi, Linda Petrucci , et al. · 2018

XY (SRY-positive) Ovarian Disorder of Sex Development in Cattle Open

Lisa De Lorenzi, S. Arrighi, Elena Rossi, Pierangela Grignani, Carlo Previderé , et al. · 2018

In mammals, the sex of the embryo depends on the SRY gene. In the presence of at least one intact and functional copy of this genetic factor (XY embryo) undifferentiated gonads will develop as testicles that subsequently determine t…

Persistent Müllerian Duct Syndrome in a German Shepherd Dog Open

Lisa De Lorenzi, S. Arrighi, D. Groppetti, Stefania Bonacina, P. Parma · 2018

In mammals, the regression of the müllerian ducts is regulated by the action of the AMH hormone which is produced by testes during embryonic development. The action of this hormone is mediated by the only known receptor AMHR2. Mutations oc…

Ichthyosis fetalis in Polled Hereford and Shorthorn calves Open

Brendon A. O’Rourke, Jillian Kelly, Zoe B. Spiers, Patrick Shearer, Naomi S. Porter , et al. · 2017

Inherited forms of ichthyosis, or generalized scaling of the skin, have been reported in many animal species, including cattle, and are characterized by an autosomal recessive mode of inheritance. We investigated 2 calves affected with ich…

Centromere Repositioning in Cattle (Bos taurus) Chromosome 17 Open

Lisa De Lorenzi, A. Iannuzzi, Elena Rossi, Stefania Bonacina, P. Parma · 2017

Eukaryotic organisms have developed a structure, called centromere, able to preserve the integrity of the genome during cell division. A young bull from the Marchigiana breed, with a normal external phenotype, underwent routine cytogenetic…

Sex Reversal in Non-Human Placental Mammals Open

P. Parma, Frédéric Veyrunes, Éric Pailhoux · 2016

Gonads are very peculiar organs given their bipotential competence. Indeed, early differentiating genital ridges evolve into either of 2 very distinct organs: the testis or the ovary. Accumulating evidence now demonstrates that both geneti…

Subject Index Vol. 10, No. 5-6, 2016 Open

Stéphane Flament, P. Parma, Frédéric Veyrunes, Andrew T. Major, Craig A. Smith , et al. · 2016

Author Index Vol. 10, No. 5-6, 2016 Open

Stéphane Flament, P. Parma, Frédéric Veyrunes, Andrew T. Major, Craig A. Smith , et al. · 2016

Fluorescentin situhybridization mapping of three fecundity genes on cattle, river buffalo, sheep and goat Open

A. Iannuzzi, A. Perucatti, Alfredo Pauciullo, V. Genualdo, Lisa De Lorenzi , et al. · 2015

One of the goals of molecular cytogenetics applied to livestock is the extension of their genetic physical maps, especially of loci containing genes related to productions. In this study, a comparative fluorescence in situ (FISH) mapping o…

Supplementary Material for: A Revised Genome Assembly of the Region 5′ to Canine SOX9 Includes the RevSex Orthologous Region Open

Elena Rossi, Orietta Radi, L. De Lorenzi, A. Iannuzzi, Giovanna Camerino , et al. · 2015

The SOX gene family includes many genes that play a determinant role in several developmental pathways. The SOX9 gene has been identified as a major factor in testis development in mammals after it is activated by the SRY<…

View article: A Revised Genome Assembly of the Region 5′ to Canine SOX9 Includes the RevSex Orthologous Region

A Revised Genome Assembly of the Region 5′ to Canine SOX9 Includes the RevSex Orthologous Region Open

Elena Rossi, Orietta Radi, Lisa De Lorenzi, A. Iannuzzi, Giovanna Camerino , et al. · 2015

The SOX gene family includes many genes that play a determinant role in several developmental pathways. The SOX9 gene has been identified as a major factor in testis development in mammals after it is activated by the SRY<…