P. Maraschio

发表

Balanced autosomal translocations and ovarian dysgenesis

D. Larizza, R. Tupler, L. Barbierato, 1994, Human Genetics.

Smith-Magenis syndrome and growth hormone deficiency

G. Marseglia, L. Larizza, C. Danesino, 2004, European Journal of Pediatrics.

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

G. Gimelli, İ. Reisli, A. Gennery, 2007, Journal of Medical Genetics.

Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.

O. Zuffardi, L. Tiepolo, P. Maraschio, 1988, Journal of medical genetics.

Interphase cytogenetics of the ICF syndrome

R. Tupler, L. Tiepolo, P. Maraschio, 1992, Annals of human genetics.

An analysis of Xq deletions

D. Larizza, R. Tupler, L. Tiepolo, 1996, Human Genetics.

G2‐phase radiation response in lymphoblastoid cell lines from Nijmegen breakage syndrome

A. di Masi, A. Antoccia, C. Tanzarella, 2002, Cell proliferation.

Impaired p53-mediated DNA damage response, cell-cycle disturbance and chromosome aberrations in Nijmegen breakage syndrome lymphoblastoid cell lines.

A. Antoccia, C. Tanzarella, K. Saar, 1999, International journal of radiation biology.

Chromosomal sensitivity to clastogenic agents and cell cycle perturbations in Nijmegen breakage syndrome lymphoblastoid cell lines.

A. Antoccia, C. Tanzarella, P. Maraschio, 1997, International journal of radiation biology.

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.

Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome

C. Olivieri, C. Danesino, E. Maserati, 2003, European Journal of Pediatrics.

Women heterozygous for deficiency of the (p21 → pter) region of the X chromosome are fertile

M. Fraccaro, F. Pasquali, P. Maraschio, 1977, Human Genetics.

facioscapulohumeral muscular dystrophy . Monosomy of distal 4 q does not cause

R. Tupler, R. Frants, A. Berardinelli, 2004 .

Monosomy of distal 4 q does not cause facioscapulohumeral muscular dystrophy

R. Tupler, R. Frants, A. Berardinelli, 2004 .

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

M. Memmi, D. De Grandis, A. Ferlini, 1998, Journal of medical genetics.

muscular dystrophy (FSHD) withdifferent clinical expression

M. Memmi, A. Ferlini, R. Tupler, 1998 .

Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.

R. Tupler, R. Frants, A. Berardinelli, 1996, Journal of medical genetics.

A novel mechanism for the origin of supernumerary marker chromosomes

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

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.

Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia

S. Giglio, R. Giorda, O. Zuffardi, 2004, Journal of Medical Genetics.

A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity.

R. Tupler, L. Chessa, G. Marseglia, 1997, Journal of medical genetics.

Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency

C. Romano, G. Gimelli, L. Tiepolo, 1979, Human Genetics.

Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications.

K. Devriendt, A. Federico, A. Verri, 2004, Annales de genetique.

Genetic heterogeneity for a Nijmegen breakage‐like syndrome

I. Demuth, A. di Masi, A. Antoccia, 2003, Clinical genetics.

XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: Genetic analysis in one family

S. Imbeaud, G. Camerino, L. Tiepolo, 2005, American journal of medical genetics. Part A.

Dup(3)(p2----pter) in two families, including one infant with cyclopia.

G. Gimelli, O. Zuffardi, M. Aricò, 1985, American journal of medical genetics.

The role of Yp in sex determination: new evidence from X/Y translocations.

O. Zuffardi, U. Müller, P. Maraschio, 1982, American journal of medical genetics.

Presumptive mosaic origin of an XX/XY female with ambiguous genitalia.

C. E. Ford, O. Zuffardi, P. Maraschio, 1987, Journal of medical genetics.

A new chromosome instability disorder

O. Zuffardi, L. Minoli, P. Maraschio, 1986, Clinical genetics.

Male infertility and 13-14 translocation.

O. Zuffardi, M. Fraccaro, L. Tiepolo, 1973, Lancet.

A gene controlling H-Y antigen on the X chromosome

H. Hameister, M. Fraccaro, U. Wolf, 1980, Human Genetics.

Evidence for a human mitotic mutant with pleiotropic effect

O. Zuffardi, L. Papi, P. Maraschio, 1989, Annals of human genetics.

Cytogenetics of multiple endocrine neoplasia syndromes. III. Analysis of an insulinoma from a subject with MEN 1 by chromosome painting.

M. Brandi, M. Fraccaro, A. Pezzolo, 1993, Cancer genetics and cytogenetics.

Cytogenetics of multiple endocrine neoplasia syndrome. II. Chromosome abnormalities in an insulinoma and a glucagonoma from two subjects with MEN1.

M. Brandi, M. Fraccaro, P. Maraschio, 1992, Cancer genetics and cytogenetics.

A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1.

G Lanzi, R. Tupler, L. Tiepolo, 1992, Journal of medical genetics.

Chromosome abnormalities in lymphocytes and fibroblasts of subjects with multiple endocrine neoplasia type 1.

M. Fraccaro, P. Maraschio, A. Zonta, 1991, Cancer genetics and cytogenetics.

Late diagnosis in severe and mild intellectual disability in adulthood.

A. Federico, E. Pucci, L. Nespoli, 2004, Journal of intellectual disability research : JIDR.

Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth.

G. Camerino, M. Wapenaar, G. Rappold, 1991, American journal of human genetics.

Involvement of 9q22.1–31.3 region in pyloric stenosis

R. Tupler, L. Tiepolo, E. Maserati, 1998, Clinical 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.

Mild Nijmegen breakage syndrome phenotype due to alternative splicing.

K. Sperling, A. di Masi, A. Antoccia, 2006, Human molecular genetics.

DNMT3B mutations and DNA methylation defect define two types of ICF syndrome

A. Mégarbané, J. Fryns, D. Bourc’his, 2005, Human mutation.

Abnormal methylation does not prevent X inactivation in ICF patients

D. Bourc’his, J. Dupont, L. Tiepolo, 1999, Cytogenetic and Genome Research.

Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome.

R. Tupler, P. Maraschio, M. Alkan, 1992, Journal of medical genetics.

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.

Regional assignment of the loci for adenylate kinase to 9q32 and for α1-acid glycoprotein to 9q31-q32

R. Tupler, O. Zuffardi, R. Moratti, 1989, Human Genetics.

Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter?

R. Tupler, O. Zuffardi, R. Moratti, 1989, Human genetics.

A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage.

O. Zuffardi, C. Danesino, P. Maraschio, 1984, Annales de genetique.

Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome.

R. Tupler, A. Pezzolo, P. Maraschio, 1994, Annales de genetique.

Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl

G. Camerino, B. Bardoni, F. Crosato, 1989, Human Genetics.

The syndrome of partial trisomy 14q

O. Zuffardi, F. Severi, P. Maraschio, 1976, European Journal of Pediatrics.

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.

Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations

H. Ropers, M. Fraccaro, A. Westerveld, 2004, Human Genetics.

Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers.

A. di Masi, A. Antoccia, C. Tanzarella, 2006, Genetic testing.

formationchromosomes. Clues to the mechanisms of are present in a proportion of ring Duplications in addition to terminal deletions

S. Perrotta, V. Kučinskas, A. Schinzel, 2007 .

Two sisters with 45,X karyotype: influence of genomic imprinting on phenotype and cognitive profile

D. Larizza, V. Calcaterra, B. Bardoni, 2002, European Journal of Pediatrics.

Alternate centromere inactivation in a pseudodicentric (15;20)(pter;pter) associated with a progressive neurological disorder.

O. Zuffardi, H. Rivera, P. Maraschio, 1989, Journal of medical genetics.

Hypogonadism in a patient with balanced X/18 translocation and pituitary hormone deficiency

D. Larizza, M. Maghnie, P. Sampaolo, 1993, European Journal of Pediatrics.

Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation

C. Danesino, P. Maraschio, V. Vigi, 1979, Human Genetics.

The gene for human peptidase A is on band 18q23 and shows triplex and uniplex dosage effect

M. Fraccaro, C. Danesino, P. Maraschio, 1978, Human Genetics.

Preferential maternal derivation in inv dup(15)

G. Gimelli, R. Lorini, C. Fonatsch, 2004, Human Genetics.

X chromosomes attached by their short arm : presence of an inactive centromere influences the replication patterns.

P. Crosignani, P. Maraschio, A. D'Alberton, 1980, Annales de genetique.

Alternate centromere inactivation inapseudodicentric

H. Rivera, P. Maraschio, R. Scarinci, 1989 .

Cd bands and centromeric function in dicentric chromosomes

P. Maraschio, F. L. Curto, Orsetta Zuffadi, 2004, Human Genetics.

Analysis of two 47,XXX males reveals X-Y interchange and maternal or paternal nondisjunction

W. Schempp, M. Fraccaro, U. Wolf, 1989, Human Genetics.

Chromosome instability and nibrin protein variants in NBS heterozygotes

A. Antoccia, C. Tanzarella, G. Marseglia, 2003, European Journal of Human Genetics.

Risk for recombinants in pericentric inversions of the (p11→q21) region of chromosome 18

M. Fraccaro, P. Maraschio, V. Vigi, 1977, Human Genetics.

Indirect immunofluorescence of inactive centromeres as indicator of centromeric function

O. Zuffardi, P. Maraschio, S. Lambiase, 1986, Human Genetics.

Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation

R. Tupler, O. Zuffardi, H. Rivera, 1990, Human Genetics.

Ring chromosome 9 with a 9p22.3-p24.3 duplication

R. Tupler, L. Tiepolo, E. Maserati, 1999, European Journal of Pediatrics.

Cytogenetics of multiple endocrine neoplasia syndromes. I. Two different, unique clonal chromosome changes in a medullary thyroid carcinoma and in a C-cell thyroid hyperplasia.

M. Fraccaro, G. Arrigoni, P. Maraschio, 1992, Cancer genetics and cytogenetics.

Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts.

R. Tupler, L. Tiepolo, P. Maraschio, 1989, Journal of medical genetics.

X chromosomes attached by their long arm: replication autonomy of the short arm adjacent to the inactive centromere.

M. Fraccaro, P. Maraschio, S. Scappaticci, 1977, Annales de Genetique.

Preferential maternal derivation in inv dup(15): analysis of eight new cases.

G. Gimelli, R. Lorini, C. Fonatsch, 1981, Human genetics.

Molecular analysis of a human Y;1 translocation in an azoospermic male.

R. Tupler, L. Tiepolo, P. Maraschio, 1994, Cytogenetics and cell genetics.

A novel mutation and novel features in Nijmegen breakage syndrome

A. Antoccia, C. Tanzarella, A. Reis, 2001, Journal of medical genetics.

Chromosome abnormalities and male sterility.

O. Zuffardi, F. Pasquali, P. Maraschio, 1975, Journal de genetique humaine.

Familial occurrence of Turner syndrome: casual event or increased risk?

D. Larizza, V. Calcaterra, C. Klersy, 2011, Journal of pediatric endocrinology & metabolism : JPEM.

A Gene Controlling HY Antigen on the X Tentative Assignment by Deletion Mapping to Xp 223 Chromosome

H. Hameister, M. Fraccaro, P. Maraschio, 2004 .

Mild phenotype associated with inv dup 8 (q21.2‐q22.3) of maternal origin

R. Tupler, E. Fazzi, G. Lanzi, 1996 .

Mapping the gene encoding the human erythroid transcriptional factor NFE1-GF1 to Xp11.23

G. Camerino, B. Bardoni, S. Nicolis, 1991, Human Genetics.

A novel mutation and novel features in Nijmegen breakage syndrome.

A. Antoccia, C. Tanzarella, A. Reis, 2001, Journal of medical genetics.