O. ZUFFARDI: search on Z-Library

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1

— Abito cristallino e condizioni genetiche in alcuni minerali

Journal:

Rendiconti Lincei

Year:

1990

Language:

italian

File:

PDF, 3.31 MB

italian, 1990

2

Three Reportedly Unrelated Families With Liddle Syndrome Inherited From a Common Ancestor

Pagani, Luca, Diekmann, Yoan, Sazzini, Marco, De Fanti, Sara, Rondinelli, Maurizio, Farnetti, Enrico, Casali, Bruno, Caretto, Amelia, Novara, Francesca, Zuffardi, Orsetta, Garagnani, Paolo, Mantero, F

Journal:

Year:

2017

Language:

english

File:

PDF, 812 KB

english, 2017

3

Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation

Renata Bocciardi, Roberto Giorda, Jens Buttgereit, Stefania Gimelli, Maria Teresa Divizia, Silvana Beri, Silvio Garofalo, Sara Tavella, Margherita Lerone, Orsetta Zuffardi, Michael Bader, Roberto Rava

Journal:

Year:

2007

Language:

english

File:

PDF, 360 KB

english, 2007

4

Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, McKusick) is at Xq28, distal to the G6PD locus

Orsetta Zuffardi, M. Fraccaro

Journal:

Year:

1982

Language:

english

File:

PDF, 218 KB

english, 1982

5

Considerazioni tecnico economiche sulle mineralizzazioni aurifere in Italia

Journal:

Rendiconti Lincei

Year:

1997

Language:

italian

File:

PDF, 740 KB

italian, 1997

6

Direct duplication 12p11.21–p13.31 mediated by segmental duplications: a new recurrent rearrangement?

Manuela De Gregori, Tiziano Pramparo, Luigi Memo, Giorgio Gimelli, Jole Messa, Mariano Rocchi, Maria Grazia Patricelli, Roberto Ciccone, Roberto Giorda, Orsetta Zuffardi

Journal:

Year:

2005

Language:

english

File:

PDF, 388 KB

english, 2005

7

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy

Davide Mei, Carla Marini, Francesca Novara, Bernardo D. Bernardina, Tiziana Granata, Elena Fontana, Elena Parrini, Anna R. Ferrari, Alessandra Murgia, Orsetta Zuffardi, Renzo Guerrini

Journal:

Year:

2010

Language:

english

File:

PDF, 327 KB

english, 2010

8

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in Apoptosis Inducing Factor 1

Daniele Ghezzi⁎, Irina Sevrioukova, Federica Invernizzi, Costanza Lamperti, Marina Mora, Pio D'Adamo, Francesca Novara, Orsetta Zuffardi, Graziella Uziel, Massimo Zeviani

Journal:

Year:

2011

Language:

english

File:

PDF, 63 KB

english, 2011

9

Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes

Alfei, Enrico, Raviglione, Federico, Franceschetti, Silvana, D'Arrigo, Stefano, Milani, Donatella, Selicorni, Angelo, Riva, Daria, Zuffardi, Orsetta, Pantaleoni, Chiara, Binelli, Simona

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 892 KB

english, 2014

10

SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant

Errichiello, Edoardo, Gorgone, Cristina, Giuliano, Loretta, Iadarola, Barbara, Cosentino, Emanuela, Rossato, Marzia, Kurtas, Nehir Edibe, Delledonne, Massimo, Mattina, Teresa, Zuffardi, Orsetta

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 693 KB

english, 2018

11

Supergene and Surficial Ore Deposits || KARSTS AND ECONOMIC MINERAL DEPOSITS

ZUFFARDI, PIERO

Year:

1976

Language:

english

File:

PDF, 5.79 MB

english, 1976

12

An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis

Errichiello, Edoardo, Arossa, Alessia, Iasci, Angela, Villa, Roberta, Ischia, Benedetta, Pavesi, Maria Angela, Rizzuti, Tommaso, Bedeschi, Maria Francesca, Zuffardi, Orsetta

Journal:

Clinical Genetics

Year:

2020

File:

PDF, 595 KB

2020

13

Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome

Errichiello, Edoardo, Malara, Alessandro, Grimod, Gianluca, Avolio, Luigi, Balduini, Alessandra, Zuffardi, Orsetta

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 233 KB

2020

14

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

Carrozzo, Romeo, Arrigo, Giulia, Rossi, Elena, Bardoni, Barbara, Cammarata, Marina, Gandullia, Paolo, Gatti, Rosanna, Zuffardi, Orsetta

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 277 KB

english, 1997

15

20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: Narrowing of the 9p duplication critical region to 6 Mb

Maria Clara Bonaglia, Roberto Giorda, Romeo Carrozzo, Maria Elena Roncoroni, Rita Grasso, Renato Borgatti, Orsetta Zuffardi

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 165 KB

english, 2002

16

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

17

Presence of H-Y antigen in female patients with sex-chromosome mosaics and absence of testicular tissue

Dr. Ulrich Müller, Antonia Mayerova, Marco Fraccaro, Orsetta Zuffardi, Margareta Mikkelsen, Andrea Prader

Journal:

American Journal of Medical Genetics Part A

Year:

1983

Language:

english

File:

PDF, 399 KB

english, 1983

18

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

19

Nonreciprocal and jumping translocations of 15q1→qter in Prader-Willi syndrome

H. Rivera, Prof. O. Zuffardi, L. Gargantini

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 678 KB

english, 1990

20

Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency

A. Ballabio, M. Zollo, R. Carrozzo, A. Caiulo, O. Zuffardi, C. F. Cascioli, D. Viggiano, P. Strisciuglio

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 397 KB

english, 1991

21

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

Marcella Zollino, Cesare Colosimo, Orsetta Zuffardi, Elena Rossi, Alessandra Tosolini, Christopher A. Walsh, Giovanni Neri

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 290 KB

english, 2003

22

De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities

C. Battisti, M.C. Bonaglia, S. Giglio, C. Anichini, L. Pucci, M.T. Dotti, O. Zuffardi, A. Federico

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 170 KB

english, 2003

23

Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male

Tiziano Pramparo, Giuliana Gregato, Manuela De Gregori, Alessandra Friso, Maurizio Clementi, Patrizia Ardenghi, Mariano Rocchi, Orsetta Zuffardi, Romano Tenconi

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 106 KB

english, 2003

24

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

Elena Rossi, Manuela de Gregori, Maria Grazia Patricelli, Tiziano Pramparo, Luisa Argentiero, Sabrina Giglio, Katiuscia Sosta, Giovanni Foresti, Orsetta Zuffardi

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 132 KB

english, 2005

25

A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: Cytogenetics, molecular, and methylation studies

Giorgio Gimelli, Roberto Giorda, Silvana Beri, Stefania Gimelli, Orsetta Zuffardi

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 246 KB

english, 2006

26

A patient with duplication (7)(p22.1pter) characterized by array-CGH

Laila Zahed, Tiziano Pramparo, Chantal Farra, Mohammad Mikati, Orsetta Zuffardi

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 227 KB

english, 2007

27

A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q

Matteo Della Monica, Fortunato Lonardo, Francesca Faravelli, Mauro Pierluigi, Daniela Varela Luquetti, Manuela De Gregori, Orsetta Zuffardi, Gioacchino Scarano

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 201 KB

english, 2007

28

A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation

Tiziano Pramparo, Manuela de Gregori, Stefania Gimelli, Roberto Ciccone, Domenico Frondizi, Thomas Liehr, Simona Pellacani, Gabriele Masi, Paola Brovedani, Orsetta Zuffardi, Renzo Guerrini

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 396 KB

english, 2008

29

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

Anna Lisa Nucaro, Marta Meloni, Tiziana Pisano, Paola Melis, Elena Rossi, Rossano Rossino, Simona Corona, Mario Loi, Francesco Achena, Orsetta Zuffardi, Carlo Cianchetti

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 163 KB

english, 2008

30

Multiple joint dislocations: An additional skeletal finding in Lowry–Wood syndrome?

Cinzia Magnani, Salvatore Antonio Tedesco, Sara Dallaglio, Marcello Sommi, Ermanno Bacchini, Annalisa Vetro, Orsetta Zuffardi, Giulio Bevilacqua

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 603 KB

english, 2009

31

Search for genomic imbalances in a cohort of 20 patients with oral–facial–digital syndromes negative for mutations and large rearrangements in the OFD1 gene

Christel Thauvin-Robinet, Patrick Callier, Brunella Franco, Orsetta Zuffardi, Muriel Payet, Bernard Aral, Nadège Gigot, Anne Donzel, Anne-Laure Mosca-Boidron, Alice Masurel-Paulet, Frédéric Huet, Jean

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 67 KB

english, 2009

32

A t(7;12) balanced translocation with breakpoints overlapping those of the Williams–Beuren and 12q14 microdeletion syndromes

Stefania Gimelli, Jacqueline Chrast, Anwar Baban, Charlotte N. Henrichsen, Margherita Lerone, Orsetta Zuffardi, Giorgio Gimelli, Alexandre Reymond

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 564 KB

english, 2010

33

Common structural features characterize interstitial intrachromosomal Xp and 18q triplications

Roberto Giorda, Silvana Beri, M. Clara Bonaglia, Luigina Spaccini, Barbara Scelsa, Emmanouil Manolakos, Erika Della Mina, Roberto Ciccone, Orsetta Zuffardi

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 545 KB

english, 2011

34

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2

Roberto Giorda, Roberto Ciccone, Giorgio Gimelli, Tiziano Pramparo, Silvana Beri, Maria Clara Bonaglia, Sabrina Giglio, Maurizio Genuardi, Jesùs Argente, Mariano Rocchi, Orsetta Zuffardi

Journal:

Year:

2007

Language:

english

File:

PDF, 472 KB

english, 2007

35

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract

Stefania Gimelli, Gianluca Caridi, Silvana Beri, Kyle McCracken, Renata Bocciardi, Paola Zordan, Monica Dagnino, Patrizia Fiorio, Luisa Murer, Elisa Benetti, Orsetta Zuffardi, Roberto Giorda, James M.

Journal:

Year:

2010

Language:

english

File:

PDF, 340 KB

english, 2010

36

Cell-cycle phases and genetic profile of bone marrow-derived mesenchymal stromal cells expanded in vitro from healthy donors

Valentina Achille, Melissa Mantelli, Giulia Arrigo, Francesca Novara, Maria Antonietta Avanzini, Maria Ester Bernardo, Orsetta Zuffardi, Giovanni Barosi, Marco Zecca, Rita Maccario

Journal:

Journal of Cellular Biochemistry

Year:

2011

Language:

english

File:

PDF, 274 KB

english, 2011

37

Optimization of in vitro expansion of human multipotent mesenchymal stromal cells for cell-therapy approaches: Further insights in the search for a fetal calf serum substitute

M.E. Bernardo, M.A. Avanzini, C. Perotti, A.M. Cometa, A. Moretta, E. Lenta, C. Del Fante, F. Novara, A. de Silvestri, G. Amendola, O. Zuffardi, R. Maccario, F. Locatelli

Journal:

Journal of Cellular Physiology

Year:

2007

Language:

english

File:

PDF, 443 KB

english, 2007

38

Tricholomenyns A and B, novel antimitotic acetylenic cyclohexenone derivatives from the fruiting bodies of Tricholoma acerbum

Luigi Garlaschelli, Elena Magistrali, Giovanni Vidari, Orsetta Zuffardi

Journal:

Tetrahedron Letters

Year:

1995

Language:

english

File:

PDF, 229 KB

english, 1995

39

A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY

Marco F Manzoni, Tiziano Pramparo, Antonella Stroppolo, Flavio Chiaino, Emanuele Bosi, Orsetta Zuffardi, Romeo Carrozzo

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 102 KB

english, 2000

40

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability

Elga F Belligni, Elisa Biamino, Cristina Molinatto, Jole Messa, Mauro Pierluigi, Francesca Faravelli, Orsetta Zuffardi, Giovanni B Ferrero, Margherita Cirillo Silengo

Journal:

Italian Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 2.41 MB

english, 2009

41

Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally

Silvia Maitz, Barbara Gentilin, Anna Maria Colli, Tommaso Rizzuti, Emilia Brandolisio, Annalisa Vetro, Orsetta Zuffardi, Silvana Guerneri, Faustina Lalatta

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 122 KB

english, 2008

42

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

Annalisa Vetro, Angela Iasci, Barbara Dal Bello, Elena Rossi, Jole Messa, Laura Montanari, Stefania Cesari, Orsetta Zuffardi

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 118 KB

english, 2008

43

A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth

Ioannis Papoulidis, Emmanouil Manolakos, Elisavet Siomou, Kostantinos Kefalas, Loretta Thomaidis, Thomas Liehr, Annalisa Vetro, Apostolos Athanasiadis, Orsetta Zuffardi, Michael B. Petersen

Journal:

Prenatal Diagnosis

Year:

2010

Language:

english

File:

PDF, 84 KB

english, 2010

44

Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era?

The-Hung Bui, Annalisa Vetro, Orsetta Zuffardi, Lisa G. Shaffer

Journal:

Prenatal Diagnosis

Year:

2011

Language:

english

File:

PDF, 471 KB

english, 2011

45

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

46

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

47

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

Elena Rossi, Raffaele Zarrilli, Orsetta Zuffardi

Journal:

Year:

1993

Language:

english

File:

PDF, 302 KB

english, 1993

48

Italian ore/mineral deposits related to emersion surfaces a summary

R. Assereto, L. Brigo, C. Brusca, P. Omenetto, P. Zuffardi

Journal:

Mineralium Deposita

Year:

1976

Language:

english

File:

PDF, 702 KB

english, 1976

49

Definitive assignment of the growth hormone-releasing factor gene to 20q11.2

A. Pezzolo, G. Gimelli, M. Sposito, U. Giussani, E. Rossi, O. Zuffardi

Journal:

Year:

1994

Language:

english

File:

PDF, 338 KB

english, 1994

50

The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte

P. Simi, M. Ceccarelli, A. Barachini, G. Floridia, O. Zuffardi

Journal:

Year:

1992

Language:

english

File:

PDF, 351 KB

english, 1992