FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Paola Maraschio

Research Profile

Procedures

Disorders

Anatomy

Co-author Network

Publications

TOP 3
Daniela Larizza; Paola Maraschio; Claudia Caramagna; Cesare Danesino; Catherine Klersy; Valeria Calcaterra
Familial occurrence of Turner syndrome: casual event or increased risk?
Elena Rossi; Annalisa Verri; Maria Grazia Patricelli; Valeria Destefani; Ivana Ricca; Annalisa Vetro; Roberto Ciccone; Roberto Giorda; Daniela Toniolo; Paola Maraschio; Orsetta Zuffardi
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea.
Elena Rossi; M Riegel; J Messa; stefania gimelli; Paola Maraschio; Roberto Ciccone; M Stroppi; Paola Riva; C S Perrotta; Teresa Mattina; L Memo; A Baumer; V Kucinskas; C Castellan; A Schinzel; Orsetta Zuffardi
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Paola Maraschio (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2011: Daniela Larizza; Paola Maraschio; Claudia Caramagna; Cesare Danesino; Catherine Klersy; Valeria Calcaterra
Familial occurrence of Turner syndrome: casual event or increased risk?
Journal of pediatric endocrinology & metabolism : JPEM 2011;24(3-4):223-5.
2008: Elena Rossi; Annalisa Verri; Maria Grazia Patricelli; Valeria Destefani; Ivana Ricca; Annalisa Vetro; Roberto Ciccone; Roberto Giorda; Daniela Toniolo; Paola Maraschio; Orsetta Zuffardi
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea.
European journal of medical genetics 2008;51(6):631-8.
2008: Elena Rossi; M Riegel; J Messa; stefania gimelli; Paola Maraschio; Roberto Ciccone; M Stroppi; Paola Riva; C S Perrotta; Teresa Mattina; L Memo; A Baumer; V Kucinskas; C Castellan; A Schinzel; Orsetta Zuffardi
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.
Journal of medical genetics 2008;45(3):147-54.
2008: M M Hagleitner; A Lankester; Paola Maraschio; M Hultén; Jean-Pierre Fryns; C Schuetz; Giorgio Gimelli; E Graham Davies; A Gennery; B H Belohradsky; R de Groot; E J A Gerritsen; Teresa Mattina; P J Howard; A Fasth; I Reisli; D Furthner; Mary A Slatter; A J Cant; G Cazzola; P J van Dijken; Marcel van Deuren; JC de Greef; Silvère M van der Maarel; Corry M R Weemaes
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
Journal of medical genetics 2008;45(2):93-9.
2007: Lucia Ballarati; Elena Rossi; Maria Teresa Bonati; stefania gimelli; Paola Maraschio; Palma Finelli; Sabrina Giglio; Elisabetta Lapi; Maria Francesca Bedeschi; Silvana Guerneri; Giulia Arrigo; Maria Grazia Patricelli; Teresa Mattina; Oriana Guzzardi; Vanna Pecile; Adalgisa Police; Gioacchino Scarano; Lidia Larizza; Orsetta Zuffardi; Daniela Giardino
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.
Journal of medical genetics 2007;44(1):e60.
2006: Raymonda Varon; Véronique Dutrannoy; Georg Weikert; Caterina Tanzarella; Antonio Antoccia; Lars Stöckl; Emanuela Spadoni; Lars-Arne Krüger; Alessandra di Masi; Karl Sperling; Martin Digweed; Paola Maraschio
Mild Nijmegen breakage syndrome phenotype due to alternative splicing.
Human molecular genetics 2006;15(5):679-89.
2006: Alessandra di Masi; Antonio Antoccia; Emanuela Spadoni; Raymonda Varon-Mateeva; Paola Maraschio; Caterina Tanzarella
Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers.
Genetic testing 2006;10(1):24-30.
2005: Orietta Radi; Pietro Parma; Sandrine Imbeaud; Maria Rita Nasca; Filippo Uccellatore; Paola Maraschio; Luciano Tiepolo; Giuseppe Micali; Giovanna Camerino
XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family.
American journal of medical genetics. Part A 2005;138A(3):241-6.
2005: Y L Jiang; Muriel Rigolet; Déborah Bourc'his; Fabienne Nigon; I Bokesoy; J P Fryns; M Hultén; Philippe Jonveaux; Paola Maraschio; A Mégarbané; Anne Moncla; Evani Viegas-Péquignot
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.
Human mutation 2005;25(1):56-63.
2004: Annalisa Verri; Paola Maraschio; Carla Uggetti; E Pucci; G Ronchi; L Nespoli; V Destefani; A Ramponi; A Federico
Late diagnosis in severe and mild intellectual disability in adulthood.
Journal of intellectual disability research : JIDR 2004;48(Pt 7):679-86.
2004: Annalisa Verri; Paola Maraschio; koenraad devriendt; Carla Uggetti; Emanuela Spadoni; Edward Haeusler; Antonio Federico
Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications.
Annales de génétique 2004;47(3):281-7.
2004: Emanuela Spadoni; Claudia Castelnovi; Paola Maraschio; Elisabetta Stacul; Giampiero Beluffi; Mauro Bozzola; Cesare Danesino
Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome.
American journal of medical genetics. Part A 2004;128A(1):57-9.
2004: Emanuela Spadoni; Patrizia Colapietro; Mauro Bozzola; Gian Luigi Marseglia; Luciana Repossi; Cesare Danesino; Lidia Larizza; Paola Maraschio
Smith-Magenis syndrome and growth hormone deficiency.
European journal of pediatrics 2004;163(7):353-8.
2004: Roberto Giorda; A Cerritello; Maria Clara Bonaglia; S Bova; G Lanzi; E Repetti; Sabrina Giglio; Cinzia Baschirotto; Tiziano Pramparo; Luigi Avolio; Romano Bragheri; Paola Maraschio; Orsetta Zuffardi
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.
Journal of medical genetics 2004;41(6):e71.
2003: Caterina Tanzanella; Antonio Antoccia; Emanuela Spadoni; Alessandra di Masi; Vanna Pecile; Eliana Demori; Raymonda Varon; Gian Luigi Marseglia; Luciano Tiepolo; Paola Maraschio
Chromosome instability and nibrin protein variants in NBS heterozygotes.
European journal of human genetics : EJHG 2003;11(4):297-303.
2003: Paola Maraschio; Emanuela Spadoni; Caterina Tanzarella; Antonio Antoccia; Alessandra di Masi; M Maghnie; Raymonda Varon; Ilja Demuth; Luciano Tiepolo; Cesare Danesino
Genetic heterogeneity for a Nijmegen breakage-like syndrome.
Clinical genetics 2003;63(4):283-90.
2003: Carla Olivieri; Paola Maraschio; Desiree Caselli; Carla Martini; Giampiero Beluffi; Emanuela Maserati; Cesare Danesino
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.
European journal of pediatrics 2003;162(2):100-3.
2002: Daniela Larizza; Paola Maraschio; Barbara Bardoni; Valeria Calcaterra; Paolo Manfredi; Andrea Gemma
Two sisters with 45,X karyotype: influence of genomic imprinting on phenotype and cognitive profile.
European journal of pediatrics 2002;161(4):224-5.
2002: Antonio Antoccia; Alessandra di Masi; Paola Maraschio; Markus Stumm; Ruggero Ricordy; Caterina Tanzarella
G2-phase radiation response in lymphoblastoid cell lines from Nijmegen breakage syndrome.
Cell proliferation 2002;35(2):93-104.
2001: Valeria Calcaterra; Daniela Larizza; Paola Maraschio; B Bardoni; P Manfredi; A Gemma
[Genomic imprinting in two adolescent sisters with Turner's syndrome].
Minerva pediatrica 2001;53(5):499-500.
2001: Paola Maraschio; Cesare Danesino; Antonio Antoccia; Ruggero Ricordy; Caterina Tanzarella; Raymonda Varon; A Reis; D Besana; Andrea Guala; Luciano Tiepolo
A novel mutation and novel features in Nijmegen breakage syndrome.
Journal of medical genetics 2001;38(2):113-7.
1999: L Seghezzi; Paola Maraschio; Mauro Bozzola; Emanuela Maserati; Rossella Tupler; A Marchi; Luciano Tiepolo
Ring chromosome 9 with a 9p22.3-p24.3 duplication.
European journal of pediatrics 1999;158(10):791-3.
1999: Antonio Antoccia; Markus Stumm; Kathrin Saar; Ruggero Ricordy; Paola Maraschio; Caterina Tanzarella
Impaired p53-mediated DNA damage response, cell-cycle disturbance and chromosome aberrations in Nijmegen breakage syndrome lymphoblastoid cell lines.
International journal of radiation biology 1999;75(5):583-91.
1999: Emanuela Maserati; Annalisa Verri; L Seghezzi; Rossella Tupler; A Federico; Luciano Tiepolo; Paola Maraschio
Cerebellar dysgenesis and mental retardation associated with a complex chromosome rearrangement.
Annales de génétique 1999;42(4):210-4.
1999: Déborah Bourc'his; P Miniou; Marc Jeanpierre; D Molina Gomes; J Dupont; Geneviève de Saint Basile; Paola Maraschio; Luciano Tiepolo; Evani Viegas-Péquignot
Abnormal methylation does not prevent X inactivation in ICF patients.
Cytogenetics and cell genetics 1999;84(3-4):245-52.
1998: Rossella Tupler; L Barbierato; Mirella Memmi; C A Sewry; Domenico De Grandis; Paola Maraschio; Luciano Tiepolo; A Ferlini
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.
Journal of medical genetics 1998;35(9):778-83.
1998: Paola Maraschio; Emanuela Maserati; L Seghezzi; Rossella Tupler; M P Verri; Luciano Tiepolo
Involvement of 9q22.1-31.3 region in pyloric stenosis.
Clinical genetics 1998;54(2):159-60.
1997: Rossella Tupler; Gian Luigi Marseglia; Miria Stefanini; Ennio Prosperi; Luciana Chessa; Tiziana Nardo; A Marchi; Paola Maraschio
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity.
Journal of medical genetics 1997;34(3):196-202.
1997: Antonio Antoccia; Ruggero Ricordy; Paola Maraschio; S Prudente; Caterina Tanzarella
Chromosomal sensitivity to clastogenic agents and cell cycle perturbations in Nijmegen breakage syndrome lymphoblastoid cell lines.
International journal of radiation biology 1997;71(1):41-9.
1996: Rossella Tupler; Angela Berardinelli; L Barbierato; R Frants; Jane E Hewitt; Giovanni Lanzi; Paola Maraschio; Luciano Tiepolo
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.
Journal of medical genetics 1996;33(5):366-70.
1996: Rossella Tupler; E Pagliano; L Barbierato; Giovanni Lanzi; Paola Maraschio; Elisa Fazzi
Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin.
American journal of medical genetics 1996;62(2):160-3.
1996: Paola Maraschio; Rossella Tupler; E Rossi; L Barbierato; F Uccellatore; M Rocchi; Orsetta Zuffardi; M Fraccaro
A novel mechanism for the origin of supernumerary marker chromosomes.
Human genetics 1996;97(3):382-6.
1996: Paola Maraschio; Rossella Tupler; L Barbierato; E Dainotti; D Larizza; F Bernardi; H Hoeller; A Garau; Luciano Tiepolo
An analysis of Xq deletions.
Human genetics 1996;97(3):375-81.
1994: Rossella Tupler; L Barbierato; D Larizza; P Sampaolo; Franco Piovella; Paola Maraschio
Balanced autosomal translocations and ovarian dysgenesis.
Human genetics 1994;94(2):171-6.
1994: Paola Maraschio; Rossella Tupler; E Dainotti; M Cortinovis; Luciano Tiepolo
Molecular analysis of a human Y;1 translocation in an azoospermic male.
Cytogenetics and cell genetics 1994;65(4):256-60.
1994: Rossella Tupler; A Hoeller; A Pezzolo; Paola Maraschio
Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome.
Annales de génétique 1994;37(3):153-5.
1993: Paola Maraschio; A Pezzolo; M L Brandi; M Cortinovis; E Dainotti; Susi Scappaticci; M Fraccaro
Cytogenetics of multiple endocrine neoplasia syndromes. III. Analysis of an insulinoma from a subject with MEN 1 by chromosome painting.
Cancer genetics and cytogenetics 1993;70(1):68-70.
1993: Antonella Minelli; Giovanna Floridia; E Rossi; M Clementi; R Tenconi; L Camurri; F Bernardi; H Hoeller; C Previde Re; Paola Maraschio
D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p).
Human genetics 1993;92(4):391-6.
1993: D Larizza; Paola Maraschio; Mohamad Maghnie; P Sampaolo
Hypogonadism in a patient with balanced X/18 translocation and pituitary hormone deficiency.
European journal of pediatrics 1993;152(5):424-7.
1992: Susi Scappaticci; M L Brandi; E Capra; M Cortinovis; Paola Maraschio; M Fraccaro
Cytogenetics of multiple endocrine neoplasia syndrome. II. Chromosome abnormalities in an insulinoma and a glucagonoma from two subjects with MEN1.
Cancer genetics and cytogenetics 1992;63(1):17-21.
1992: Paola Maraschio; M Cortinovis; E Dainotti; Rossella Tupler; Luciano Tiepolo
Interphase cytogenetics of the ICF syndrome.
Annals of human genetics 1992;56(Pt 3):273-8.
1992: Rossella Tupler; Paola Maraschio; A Gerardo; R Mainieri; Giovanni Lanzi; Luciano Tiepolo
A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1.
Journal of medical genetics 1992;29(4):253-5.
1992: Susi Scappaticci; G Arrigoni; E Capra; Paola Maraschio; M Fraccaro
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.
Cancer genetics and cytogenetics 1992;59(1):51-3.
1992: Rossella Tupler; L Bortotto; E M Bühler; M Alkan; N J Malik; N Bösch-Al Jadooa; L Memo; Paola Maraschio
Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome.
Journal of medical genetics 1992;29(1):53-5.
1991: A Henke; M Wapenaar; Gert-Jan B van Ommen; Paola Maraschio; G Camerino; G Rappold
Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth.
American journal of human genetics 1991;49(4):811-9.
1991: Susi Scappaticci; Paola Maraschio; N del Ciotto; G S Fossati; Aris Zonta; M Fraccaro
Chromosome abnormalities in lymphocytes and fibroblasts of subjects with multiple endocrine neoplasia type 1.
Cancer genetics and cytogenetics 1991;52(1):85-92.
1991: A Caiulo; S Nicolis; P Bianchi; Orsetta Zuffardi; Barbara Bardoni; Paola Maraschio; Sergio Ottolenghi; G Camerino; B Giglioni
Mapping the gene encoding the human erythroid transcriptional factor NFE1-GF1 to Xp11.23.
Human genetics 1991;86(4):388-90.
1990: Paola Maraschio; Orsetta Zuffardi; A Caiulo; E Dainotti; M Piantanida; H Rivera; Rossella Tupler
Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation.
Human genetics 1990;85(5):491-4.
1989: A Caiulo; Barbara Bardoni; G Camerino; S Guioli; Antonella Minelli; M Piantanida; F Crosato; T Dalla Fior; Paola Maraschio
Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl.
Human genetics 1989;84(1):51-4.
1989: H Rivera; Orsetta Zuffardi; Paola Maraschio; A Caiulo; C Anichini; R Scarinci; R Vivarelli
Alternate centromere inactivation in a pseudodicentric (15;20)(pter;pter) associated with a progressive neurological disorder.
Journal of medical genetics 1989;26(10):626-30.
1989: Paola Maraschio; Rossella Tupler; E Dainotti; M Piantanida; G Cazzola; Luciano Tiepolo
Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts.
Journal of medical genetics 1989;26(7):452-6.
1989: Orsetta Zuffardi; A Caiulo; Paola Maraschio; Rossella Tupler; E Bianchi; P Amisano; Giampiero Beluffi; R Moratti; gianfranco liguri
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?
Human genetics 1989;82(1):17-9.
1988: Barbara Bardoni; S Guioli; Emanuela Maserati; Paola Maraschio; G Camerino
A highly conserved sequence on the short arm of chromosome 7 detects multiple polymorphisms.
Human genetics 1988;81(1):23-5.
1988: R Vivarelli; Orsetta Zuffardi; Paola Maraschio; C Anichini; R Scarinci
A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosomes 2;7 and 5;20.
Human genetics 1988;79(4):385-8.
1988: Paola Maraschio; Orsetta Zuffardi; T Dalla Fior; Luciano Tiepolo
Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.
Journal of medical genetics 1988;25(3):173-80.
1987: Orsetta Zuffardi; Livio Gargantini; S Lambiase; F Lo Curto; Paola Maraschio; C E Ford
Presumptive mosaic origin of an XX/XY female with ambiguous genitalia.
Journal of medical genetics 1987;24(3):177-80.
1986: Paola Maraschio; D Peretti; S Lambiase; F Lo Curto; D Caufin; Livio Gargantini; L Minoli; Orsetta Zuffardi
A new chromosome instability disorder.
Clinical genetics 1986;30(5):353-65.
1986: D Peretti; Paola Maraschio; S Lambiase; F Lo Curto; Orsetta Zuffardi
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function.
Human genetics 1986;73(1):12-6.
1985: Giorgio Gimelli; C Cuoco; M Lituania; M Cordone; M Aricò; E Bianchi; Paola Maraschio; Orsetta Zuffardi
Dup(3)(p2----pter) in two families, including one infant with cyclopia.
American journal of medical genetics 1985;20(2):341-8.
1984: S Lambiase; Paola Maraschio; Orsetta Zuffardi
The Cd technique identifies a specific structure related to centromeric function.
Human genetics 1984;67(2):214-5.
1984: Paola Maraschio; Cesare Danesino; F Lo Curto; Orsetta Zuffardi; T Dalla Fior; D Pedrotti
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage.
Annales de génétique 1984;27(2):96-101.
1982: Orsetta Zuffardi; Paola Maraschio; F Lo Curto; U Müller; A Giarola; L Perotti
The role of Yp in sex determination: new evidence from X/Y translocations.
American journal of medical genetics 1982;12(2):175-84.
1981: Paola Maraschio; Orsetta Zuffardi; F Bernardi; M Bozzola; C De Paoli; C Fonatsch; S D Flatz; L Ghersini; Giorgio Gimelli; M Loi; R Lorini; D Peretti; L Poloni; D Tonetti; Roberta Vanni; G Zamboni
Preferential maternal derivation in inv dup(15): analysis of eight new cases.
Human genetics 1981;57(4):345-50.
1980: Paola Maraschio; Orsetta Zuffardi; F Lo Curto
Cd bands and centromeric function in dicentric chromosomes.
Human genetics 1980;54(2):265-7.