E. Rossi

发表

Chromosome 20 Ring: A Chromosomal Disorder Associated with a Particular Electroclinical Pattern

D. Ledbetter, A. Vignoli, O. Zuffardi, 1998, Epilepsia.

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

E. Zackai, I. Krantz, N. Spinner, 2004, American journal of medical genetics. Part A.

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

C. Romano, R. Borgatti, R. Tenconi, 2001, Journal of medical genetics.

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

M. Maghnie, V. Sutton, W. Bi, 2012, European Journal of Human Genetics.

Activation of the galectin-1 (L-14-I) gene from nonexpressing differentiated cells by fusion with undifferentiated and tumorigenic cells.

Colantuoni, G. Benvenuto, V. Colantuoni, 1994, Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research.

The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome.

G. Borsani, O. Zuffardi, G. Andria, 1998, Genomics.

Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X‐linked trait

C. Walsh, G. Neri, O. Zuffardi, 2003, American journal of medical genetics. Part A.

Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly

A. Ballabio, D. Pilz, A. Fogli, 1999, Annals of neurology.

Identification of novel prognostic markers in relapsing localized resectable neuroblastoma.

O. Zuffardi, V. Pistoia, F. Parodi, 2011, Omics : a journal of integrative biology.

Extinction of human insulin-like growth factor II expression in somatic cell hybrids.

V. Colantuoni, C. Bruni, S. Casola, 1991, Advances in experimental medicine and biology.

A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics

B. Dal Bello, O. Zuffardi, A. Vetro, 2008, Prenatal diagnosis.

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

S. Gimelli, V. Kučinskas, O. Zuffardi, 2007, Journal of Medical Genetics.

The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications.

G. Gimelli, G. Floridia, O. Zuffardi, 1996, American journal of human genetics.

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects.

J. Korenberg, G. Gimelli, M. Digilio, 2000, Circulation.

Deletion of a 5cM Region at Chromosome 8 p 23 Is Associated With a Spectrum of Congenital Heart Defects

J. Korenberg, G. Gimelli, M. Digilio, 2000 .

Ring syndrome: still true?

O. Zuffardi, E. Rossi, J. Messa, 2008, Journal of Medical Genetics.

Gene Copy Number Variation in Male Breast Cancer by aCGH

S. Tommasi, A. Paradiso, P. Chiarappa, 2010, Analytical cellular pathology.

A novel mechanism for the origin of supernumerary marker chromosomes

M. Rocchi, R. Tupler, O. Zuffardi, 1996, Human Genetics.

Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis.

M. Rocchi, V. Tiranti, M. Zeviani, 1995, Genomics.

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

C. Klersy, O. Zuffardi, E. Solcia, 2011, Human Pathology.

13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients

S. Gimelli, G. Scarano, S. Giglio, 2006, Journal of Medical Genetics.

DiGeorge anomaly associated with 10p deletion.

C. Pignata, S. Cocozza, S. Cocozza, 1991, American journal of medical genetics.

Forced expression of RDH10 gene retards growth of HepG2 cells

C. Carlo-Stella, B. Bodega, C. Lavazza, 2007, Cancer biology & therapy.

Gene‐targeted deletion in mice of the Ets−1 transcription factor, a candidate gene in the Jacobsen syndrome kidney “critical region,” causes abnormal kidney development

Lian Xu, Mengxia Fu, P. Grossfeld, 2018, American journal of medical genetics. Part A.

Order of six loci at 2q24-q31 and orientation of the HOXD locus.

M. Zeviani, E. Boncinelli, A. Faiella, 1994, Genomics.

Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)

E. Riley, S. Mattson, D. Ivy, 2009, neurogenetics.

Molecular cloning of cDNAs encoding human carnitine acetyltransferase and mapping of the corresponding gene to chromosome 9q34.1.

G. Finocchiaro, O. Zuffardi, O. Corti, 1994, Genomics.

Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs

G. Camerino, G. Luvoni, O. Zuffardi, 2014, PloS one.

Centromere Repositioning in Cattle (Bos taurus) Chromosome 17

E. Rossi, A. Iannuzzi, P. Parma, 2017, Cytogenetic and Genome Research.

Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions

S. Giglio, P. Strisciuglio, D. Concolino, 2002, Journal of medical genetics.

Mosaic Williams syndrome: A case report

E. Valente, E. Rossi, F. Sirchia, 2022, American journal of medical genetics. Part A.

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

C. Previderè, S. Arrighi, E. Rossi, 2018, Sexual Development.

Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter-->q24::q21.32-->qter) and random X inactivation.

B. Bardoni, O. Zuffardi, G. Arrigo, 1997, American journal of medical genetics.

High Resolution X Chromosome-Specific Array-CGH Detects New CNVs in Infertile Males

E. Ars, G. Forti, C. Krausz, 2012, PloS one.

Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases.

A Ballabio, G. Borsani, A. Ballabio, 1999, Genomics.

Genomic analysis of cattle rob(1;29)

S. Gimelli, L. Iannuzzi, L. Malagutti, 2012, Chromosome Research.

Molecular Characterization of Xp Chromosome Deletion in a Fertile Cow

S. Gimelli, E. Rossi, E. Lasagna, 2012, Sexual Development.

Analysis of XX SRY-Negative Sex Reversal Dogs

M. Riccardi, F. Prisco, E. Rossi, 2020, Animals : an open access journal from MDPI.

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

G. Camerino, O. Zuffardi, E. Rossi, 2015, Sexual Development.

New cryptic karyotypic differences between cattle (Bos taurus) and goat (Capra hircus)

L. Malagutti, E. Rossi, P. Parma, 2015, Chromosome Research.

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching

G. Borsani, A. Ballabio, S. Banfi, 1996, Nature Genetics.

Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.

D. Ledbetter, S. Christian, P. Simi, 1997, American journal of human genetics.

A novel zinc finger-containing RNA-binding protein conserved from fruitflies to humans.

F. Jackson, S. Banfi, A. Guffanti, 1997, Genomics.

Evolutionary genomic remodelling of the human 4q subtelomere (4q35.2)

M. Cardone, M. Rocchi, S. Müller, 2007, BMC Evolutionary Biology.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

L. Vissers, B. D. de Vries, E. Eichler, 2008, Journal of Medical Genetics.

De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s

M. Rocchi, A. Franzese, S. Giglio, 2012, PloS one.

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q

R. Borgatti, S. Giglio, R. Giorda, 2000, European Journal of Human Genetics.

Colocalization of (TTAGGG)n telomeric sequences and ribosomal genes in Atlantic eels

G. Floridia, O. Zuffardi, E. Rossi, 2004, Chromosome Research.

Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.

G. Floridia, O. Zuffardi, G. Chiumello, 1993, Journal of medical genetics.

Reciprocal translocations: a trap for cytogenetists?

M. Rocchi, R. Tenconi, R. Guerrini, 2005, Human Genetics.

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

M. Fichera, C. Romano, M. Rocchi, 2007, Journal of Medical Genetics.

Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature.

S. Bione, D. Toniolo, O. Zuffardi, 2006, Human reproduction.

De novo Reciprocal Translocation t(5;6)(q13;q34) in Cattle: Cytogenetic and Molecular Characterization

S. Gimelli, E. Rossi, P. Parma, 2013, Cytogenetic and Genome Research.

A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea.

Roberto Ciccone, Roberto Giorda, Daniela Toniolo, 2008, European journal of medical genetics.

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR)

F. Vitelli, G. Rizzoni, A. Renieri, 2002, Journal of medical genetics.

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

O. Zuffardi, A. Vetro, M. Dehghani, 2014, Iranian journal of reproductive medicine.

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

S. Gimelli, O. Zuffardi, V. Pistoia, 2009, Neuro-oncology.

Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.

S. Giglio, G. Andria, L. Titomanlio, 2001, American journal of medical genetics.

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

A. Brusco, O. Zuffardi, C. Fagerberg, 2014, American journal of medical genetics. Part A.

Gene copy number variation in male breast cancer by aCGH

S. Tommasi, A. Paradiso, P. Chiarappa, 2011, Cellular Oncology.

Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes.

A. Ballabio, A. Luddi, O. Zuffardi, 1998, Genomics.

E. Valente, R. Cerbo, M. Plumari, 2021, American journal of medical genetics. Part A.

Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency

S. Scherer, M. Nowaczyk, J. Woulfe, 2000, Clinical genetics.

Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation

S. Giglio, P. Strisciuglio, R. Marotta, 2003, American journal of medical genetics. Part A.

Trisomy 10qter confirmed by in situ hybridisation.

G. Floridia, O. Zuffardi, F. Lalatta, 1993, Journal of medical genetics.

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome

R. Tenconi, R. Giorda, O. Zuffardi, 2007, Journal of Medical Genetics.

D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)

R. Tenconi, G. Floridia, M. Clementi, 1993, Human Genetics.

Regional assignment of the gene coding for a human Graves' disease autoantigen to 10q21.3–q22.1

O. Zuffardi, E. Rossi, R. Zarrilli, 1993, Human Genetics.

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein.

G. Viglietto, A. Puca, G. Piluso, 1996, Human molecular genetics.

Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31 → pter and monosomy 3p26.3 → pter in seven members

C. Cianchetti, O. Zuffardi, M. Loi, 2008, American journal of medical genetics. Part A.

Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene.

A. Ballabio, M. Volta, S. Banfi, 1999, Genomics.

Case of Myhre syndrome with autism and peculiar skin histological findings.

A. Orsini, M. D'armiento, L. Santoro, 2001, American journal of medical genetics.

Genomic analysis of cattle rob(1;29)

S. Gimelli, L. Iannuzzi, L. Malagutti, 2012, Chromosome Research.

Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome

E. Valente, S. Orcesi, M. Plumari, 2020, American journal of medical genetics. Part A.

Ring syndrome: still true?

O. Zuffardi, N. Aziz, M. V. van Belzen, 2008, Journal of Medical Genetics.

8.5 Mb deletion at distal 5p in a male ascertained for azoospermia

K. Sosta, S. Giglio, O. Zuffardi, 2005, American journal of medical genetics. Part A.