P. P. Maraschio: search on Z-Library

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1

Late diagnosis in severe and mild intellectual disability in adulthood

A. P. Verri, P. Maraschio, C. Uggetti, E. Pucci, G. Ronchi, L. Nespoli, V. Destefani, A. Ramponi, A. Federico

Journal:

Journal of Intellectual Disability Research

Year:

2004

Language:

english

File:

PDF, 101 KB

english, 2004

2

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

Tupler, Rossella, Pagliano, Emanuela, Barbierato, Laura, Lanzi, Giovanni, Maraschio, Paola, Fazzi, Elisa

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 348 KB

english, 1996

3

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

Orsetta Zuffardi, Paola Maraschio, Franco Lo Curto, Ulrich Müller, Arturo Giarola, Lisa Perotti, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1982

Language:

english

File:

PDF, 701 KB

english, 1982

4

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

Giorgio Gimelli, Cristina Cuoco, Mario Lituania, Massimo Cordone, Maurizio Aricò, Elena Bianchi, Paola Maraschio, Dr. Orsetta Zuffardi, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 435 KB

english, 1985

5

Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: A phenotype overlapping Stratton–Parker syndrome

Emanuela Spadoni, Claudia Castelnovi, Paola Maraschio, Elisabetta Stacul, Giampiero Beluffi, Mauro Bozzola, Cesare Danesino

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 70 KB

english, 2004

6

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

Orietta Radi, Pietro Parma, Sandrine Imbeaud, Maria Rita Nasca, Filippo Uccellatore, Paola Maraschio, Luciano Tiepolo, Giuseppe Micali, Giovanna Camerino

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 85 KB

english, 2005

7

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

Y.L. Jiang, M. Rigolet, D. Bourc'his, F. Nigon, I. Bokesoy, J.P. Fryns, M. Hultén, P. Jonveaux, P. Maraschio, A. Mégarbané, A. Moncla, E. Viegas-Péquignot

Journal:

Year:

2005

Language:

english

File:

PDF, 278 KB

english, 2005

8

Genetic heterogeneity for a Nijmegen breakage-like syndrome

P Maraschio, E Spadoni, C Tanzarella, A Antoccia, A Di Masi, M Maghnie, R Varon, I Demuth, L Tiepolo, C Danesino

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 379 KB

english, 2003

9

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

A. Antoccia, A. Di Masi, P. Maraschio, M. Stumm, R. Ricordy, C. Tanzarella

Journal:

Cell Proliferation

Year:

2002

Language:

english

File:

PDF, 648 KB

english, 2002

10

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

Paola Maraschio, Orsetta Zuffardi, Angela Caiulo, Eleonora Dainotti, Mauro Piantanida, Horacio Rivera, Rossella Tupler

Journal:

Year:

1990

Language:

english

File:

PDF, 518 KB

english, 1990

11

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

A. Caiulo, S. Nicolis, P. Bianchi, O. Zuffardi, B. Bardoni, P. Maraschio, S. Ottolenghi, G. Camerino, B. Giglioni

Journal:

Year:

1991

Language:

english

File:

PDF, 442 KB

english, 1991

12

Balanced autosomal translocations and ovarian dysgenesis

Rossella Tupler, Laura Barbierato, Daniela Larizza, Patrizia Sampaolo, Franco Piovella, Paola Maraschio

Journal:

Year:

1994

Language:

english

File:

PDF, 1.14 MB

english, 1994

13

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

A. Caiulo, B. Bardoni, G. Camerino, S. Guioli, A. Minelli, M. Piantanida, F. Crosato, T. Dalla Fior, P. Maraschio

Journal:

Year:

1989

Language:

english

File:

PDF, 467 KB

english, 1989

14

The Cd technique identifies a specific structure related to centromeric function

Simonetta Lambiase, Paola Maraschio, Orsetta Zuffardi

Journal:

Year:

1984

Language:

english

File:

PDF, 350 KB

english, 1984

15

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

C. Danesino, Alessandra D'Azzo, Paola Maraschio, M. Fraccaro

Journal:

Year:

1978

Language:

english

File:

PDF, 352 KB

english, 1978

16

A gene controlling H-Y antigen on the X chromosome

U. Wolf, M. Fraccaro, Antonia Mayerová, T. Hecht, Paola Maraschio, H. Hameister

Journal:

Year:

1980

Language:

english

File:

PDF, 482 KB

english, 1980

17

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

G. Scherer, W. Schempp, M. Fraccaro, E. Bausch, V. Bigozzi, P. Maraschio, E. Montali, G. Simoni, U. Wolf

Journal:

Year:

1989

Language:

english

File:

PDF, 549 KB

english, 1989

18

Cd bands and centromeric function in dicentric chromosomes

Paola Maraschio, Orsetta Zuffadi, F. Curto

Journal:

Year:

1980

Language:

english

File:

PDF, 373 KB

english, 1980

19

Preferential maternal derivation in inv dup(15)

Paola Maraschio, Orsetta Zuffardi, Franca Bernardi, M. Bozzola, C. Paoli, Christa Fonatsch, Sibylle D. Flatz, Loretta Ghersini, G. Gimelli, M. Loi, Renata Lorini, Diletta Peretti, Lisa Poloni, Daniela

Journal:

Year:

1981

Language:

english

File:

PDF, 1.05 MB

english, 1981

20

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

H. H. Ropers, B. Migl, J. Zimmer, M. Fraccaro, P. P. Maraschio, A. Westerveld

Journal:

Year:

1981

Language:

english

File:

PDF, 345 KB

english, 1981

21

A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosomes 2;7 and 5;20

Rossella Vivarelli, Orsetta Zuffardi, Paola Maraschio, Cecilia Anichini, R. Scarinci

Journal:

Year:

1988

Language:

english

File:

PDF, 303 KB

english, 1988

22

A highly conserved sequence on the short arm of chromosome 7 detects multiple polymorphisms

B. Bardoni, S. Guioli, E. Maserati, P. Maraschio, G. Camerino

Journal:

Year:

1988

Language:

english

File:

PDF, 602 KB

english, 1988

23

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

Paola Maraschio, C. Danesino, Angiolina Garau, V. Saputo, V. Vigi, S. Volpato

Journal:

Year:

1979

Language:

english

File:

PDF, 1.42 MB

english, 1979

24

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

L. Tiepolo, Paola Maraschio, G. Gimelli, Cristina Cuoco, G. F. Gargani, C. Romano

Journal:

Year:

1979

Language:

english

File:

PDF, 1.28 MB

english, 1979

25

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

Orsetta Zuffardi, Angela Caiulo, Paola Maraschio, Rossella Tupler, Elena Bianchi, Paola Amisano, G. Beluffi, R. Moratti, G. Liguri

Journal:

Year:

1989

Language:

english

File:

PDF, 622 KB

english, 1989

26

Indirect immunofluorescence of inactive centromeres as indicator of centromeric function

Diletta Peretti, Paola Maraschio, Simonetta Lambiase, F. Curto, Orsetta Zuffardi

Journal:

Year:

1986

Language:

english

File:

PDF, 3.82 MB

english, 1986

27

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

V. Vigi, Paola Maraschio, G. Bosi, P. Guerini, M. Fraccaro

Journal:

Year:

1977

Language:

english

File:

PDF, 241 KB

english, 1977

28

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

M. Fraccaro, Paola Maraschio, F. Pasquali, Susi Scappaticci

Journal:

Year:

1977

Language:

english

File:

PDF, 1.09 MB

english, 1977

29

The syndrome of partial trisomy 14q

F. Lo Curto, Paola Maraschio, P. Milanesi, Francesca Severi, A. C. Ugazio, Orsetta Zuffardi

Journal:

European Journal of Pediatrics

Year:

1976

Language:

english

File:

PDF, 616 KB

english, 1976

30

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

Antonella Minelli, Giovanna Floridia, Elena Rossi, Maurizio Clementi, Romano Tenconi, Lamberto Camurri, Franca Bernardi, Heidi Hoeller, Carlo Previde Re, Paola Maraschio, Stephen Wood, Orsetta Zuffard

Journal:

Year:

1993

Language:

english

File:

PDF, 913 KB

english, 1993

31

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

D. Larizza, P. Maraschio, M. Maghnie, P. Sampaolo

Journal:

European Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 510 KB

english, 1993

32

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

Daniela Larizza, Paola Maraschio, Barbara Bardoni, Valeria Calcaterra, Paolo Manfredi, Andrea Gemma

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 65 KB

english, 2002

33

Smith-Magenis syndrome and growth hormone deficiency

Emanuela Spadoni, Patrizia Colapietro, Mauro Bozzola, Gian L. Marseglia, Luciana Repossi, Cesare Danesino, Lidia Larizza, Paola Maraschio

Journal:

European Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 427 KB

english, 2004

34

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

Paola Maraschio, Emanuela Maserati, Laura Seghezzi, Rossella Tupler, Maria Pia Verri, Luciano Tiepolo

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 352 KB

english, 1998

35

Chromosome instability and nibrin protein variants in NBS heterozygotes

Tanzarella, Caterina, Antoccia, Antonio, Spadoni, Emanuela, Masi, Alessandra di, Pecile, Vanna, Demori, Eliana, Varon, Raymonda, Marseglia, Gian Luigi, Tiepolo, Luciano, Maraschio, Paola

Journal:

European Journal of Clinical Nutrition

Year:

2003

Language:

english

File:

PDF, 165 KB

english, 2003

36

Interstitial deletion of chromosome

Carla Olivieri,Paola Maraschio,Desiree Caselli…

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 271 KB

english, 2003

37

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

Seghezzi, L., Maraschio, P., Bozzola, M., Maserati, E., Tupler, R., Marchi, A., Tiepolo, L.

Journal:

European Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 164 KB

english, 1999

38

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

Annapia Verri, Paola Maraschio, Koen Devriendt, Carla Uggetti, Emanuela Spadoni, Edward Haeusler, Antonio Federico

Journal:

Annales de Génétique

Year:

2004

Language:

english

File:

PDF, 184 KB

english, 2004

39

Bazo ectópico intrapancreático

Julia Samamé, Martín A. Maraschio, Lucio R. Obeide, Federico Moser, Juan C. Mondino

Journal:

Cirugía Española

Year:

2009

File:

PDF, 268 KB

2009

40

La imagen del mes

Julia Samamé, Jorge I. Moreno, Martín A. Maraschio

Journal:

Cirugía Española

Year:

2007

File:

PDF, 119 KB

2007

41

Liver Transplantation in Children with Metabolic Disorders in the United States

Liise K. Kayler, Cynthia S. Rasmussen, Dawn M. Dykstra, Jeffrey D. Punch, Steven M. Rudich, John C. Magee, Martin A. Maraschio, Juan D. Arenas, Darrell A. Campbell Jr, Robert M. Merion

Journal:

American Journal of Transplantation

Year:

2003

Language:

english

File:

PDF, 81 KB

english, 2003

42

A new chromosome instability disorder

Paola Maraschio, Diletta Peretti, Simonetta Lambiase, Franco Lo Curto, Daniele Caufin, Luigi Gargantini, Lorenzo Minoli, Orsetta Zuffardi

Journal:

Clinical Genetics

Year:

1986

Language:

english

File:

PDF, 772 KB

english, 1986

43

Evidence for a human mitotic mutant with pleiotropic effect

L. PAPI, E. MONTALI, G. MARCONI, R. GUAZZELLI, U. BIGOZZI, P. MARASCHIO, O. ZUFFARDI

Journal:

Annals of Human Genetics

Year:

1989

Language:

english

File:

PDF, 368 KB

english, 1989

44

Interphase cytogenetics of the ICF syndrome

P. MARASCHIO, M. CORTINOVIS, E. DAINOTTI, R. TUPLER, L. TIEPOLO

Journal:

Annals of Human Genetics

Year:

1992

Language:

english

File:

PDF, 391 KB

english, 1992

45

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

Hagleitner, M M, Lankester, A, Maraschio, P, Hulten, M, Fryns, J P, Schuetz, C, Gimelli, G, Davies, E G, Gennery, A, Belohradsky, B H

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 263 KB

english, 2007

46

Evidence of genetic heterogeneity in facioscapulohumeral muscular dystrophy Italian families

R. Tupler, L. Barbierato, M. Memmi, A. Berardinelli, G. Piccolo, R. Bottinelli, L. Pahmucci, A. Ferlini, D. De Grandis, I. Marchi, A. Ootini, C. Reggiani, P. Maraschio

Journal:

Neuromuscular Disorders

Year:

1996

Language:

english

File:

PDF, 106 KB

english, 1996

47

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

Elena Rossi, Anna Pia Verri, Maria Grazia Patricelli, Valeria Destefani, Ivana Ricca, Annalisa Vetro, Roberto Ciccone, Roberto Giorda, Daniela Toniolo, Paola Maraschio, Orsetta Zuffardi

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 282 KB

english, 2008

48

Outcomes of pediatric living donor renal transplant after laparoscopic versus open donor nephrectomy

L.K Kayler, R.M Merion, M.A Maraschio, J.D Punch, S.M Rudich, J.D Arenas, D.A Campbell Jr., S.E Thomas, J.C Magee

Journal:

Transplantation Proceedings

Year:

2002

Language:

english

File:

PDF, 53 KB

english, 2002

49

Successful surgical salvage of partial pancreatic allograft thrombosis

M.A Maraschio, L.K Kayler, R.M Merion, S.M Rudich, J.D Punch, J.C Magee, D.A Campbell Jr, J.D Arenas

Journal:

Transplantation Proceedings

Year:

2003

Language:

english

File:

PDF, 55 KB

english, 2003

50

An analysis of Xq deletions

Paola Maraschio,Rossella Tupler,Laura Barbierato,Eleonora Dainotti…

Journal:

Year:

1996

Language:

english

File:

PDF, 517 KB

english, 1996