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1

Children and adults affected by Cri du Chat syndrome: Care's recommendations

Liverani, Maria Elena, Spano, Alice, Danesino, Cesare, Malacarne, Michela, Cavani, Simona, Spunton, Marianna, Guala, Andrea

Journal:

Pediatric Reports

Year:

2019

Language:

english

File:

PDF, 426 KB

english, 2019

2

Analysis ofENGandACVRL1genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies

Carla Olivieri, Fabio Pagella, Lucia Semino, Luca Lanzarini, Cristina Valacca, Andrea Pilotto, Sabrina Corno, Susi Scappaticci, Guido Manfredi, Elisabetta Buscarini, Cesare Danesino

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 282 KB

english, 2007

3

Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia

Olivieri, Carla, Lanzarini, Lucav, Pagella, Fabio, Semino, Lucia, Corno, Sabrina, Valacca, Cristina, Plauchu, Henry, Lesca, Gaetan, Barthelet, Martine, Buscarini, Elisabetta, Danesino, Cesare

Journal:

Genetics in Medicine

Year:

2006

Language:

english

File:

PDF, 364 KB

english, 2006

4

Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes

Canzonieri, Cecilia, Centenara, Laura, Ornati, Federica, Pagella, Fabio, Matti, Elina, Alvisi, Costanza, Danesino, Cesare, Perego, Maurizio, Olivieri, Carla

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 459 KB

english, 2014

5

Cutaneous Metaplastic Synovial Cyst in Ehlers-Danlos Syndrome: Report of a Second Case

Guala, Andrea, Viglio, Simona, Ottinetti, Antonio, Angeli, Giovanni, Canova, Gualtiero, Colombo, Enrico, Dardano, Fabrizio, Danesino, Cesare, Valli, Maurizia

Journal:

American Journal of Dermatopathology

Year:

2008

Language:

english

File:

PDF, 403 KB

english, 2008

6

Rapunzel syndrome: how to orient the diagnosis

Finale, Enrico, Franceschini, Piergiorgio, Danesino, Cesare, Barbaglia, Michelangelo, Guala, Andrea

Journal:

Pediatric Reports

Year:

2018

Language:

english

File:

PDF, 367 KB

english, 2018

7

Ring chromosome 13 with loss of the region D13S317-D13S285: Phenotypic overlap with XK syndrome

Guala, Andrea, Dellavecchia, Claudia, Mannarino, Savina, Rognone, Felice, Giglio, Sabrina, Minelli, Antonella, Danesino, Cesare

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 344 KB

english, 1997

8

Constitutional trisomy 8 mosaicism: Mechanism of origin, phenotype variability, and risk of malignancies

Danesino, Cesare, Pasquali, Francesco, Dellavecchia, Claudia, Maserati, Emanuela, Minelli, Antonella, Seghezzi, Laura

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 27 KB

english, 1998

9

Familial biliary atresia

Danesino, Cesare, Spadoni, Emanuela, Buzzi, Antonella

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 25 KB

english, 1999

10

Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2

Aric�, Maurizio, Bettinelli, Alberto, Maccario, Rita, Clementi, Rita, Bossi, Grazia, Danesino, Cesare

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 76 KB

english, 1999

11

Constitutional trisomy 8 as first mutation in multistep carcinogenesis: Clinical, cytogenetic, and molecular data on three cases

Laura Seghezzi, Emanuela Maserati, Antonella Minelli, Claudia Dellavecchia, Paola Addis, Franco Locatelli, Adriano Angioni, Pietro Balloni, Crescenzo Miano, Pietro Cavalli, Cesare Danesino, Francesco

Journal:

Genes, Chromosomes and Cancer

Year:

1996

Language:

english

File:

PDF, 710 KB

english, 1996

12

Langerhans cell histiocytosis in two generations: A new family and review of the literature

Maurizio Aricò, Riccardo Haupt, Valeria Spica Russotto, Grazia Bossi, Susi Scappaticci, Cesare Danesino

Journal:

Pediatric Blood & Cancer

Year:

2001

Language:

english

File:

PDF, 89 KB

english, 2001

13

Asymmetric Marfan syndrome

Dr. Roberto G. Burgio, Alberto Martini, Giuseppe Cetta, Giuseppe Zanaboni, Laura Vitellaro, Cesare Danesino

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 310 KB

english, 1988

14

Cerebro-reno-digital syndrome in two sibs

Mauro Piantanida, Alessandra Tiberti, Alessandro Plebani, Paola Martelli, Cesare Danesino

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 315 KB

english, 1993

15

Del 22Q11.2 and hemophagocytic lymphohistiocytosis: A non-random association

Simone Cesaro, Chiara Messina, Laura Sainati, Cesare Danesino, Maurizio Aricò

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 35 KB

english, 2003

16

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

17

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome

Carol Gallione, Arthur S. Aylsworth, Jill Beis, Terri Berk, Barbara Bernhardt, Robin D. Clark, Carol Clericuzio, Cesare Danesino, Joanne Drautz, Jeffrey Fahl, Zheng Fan, Marie E. Faughnan, Arupa Gangu

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 133 KB

english, 2010

18

Gene dosage effect in acquired monosomy 7: Distinct behaviour of β-glucuronidase and phosphoserine phosphatase

Antonella Minelli, Mauro Piantanida, Emanuela Maserati, Elena Campagnoli, Francesco Pasquali, Cesare Danesino

Journal:

Genes, Chromosomes and Cancer

Year:

1990

Language:

english

File:

PDF, 406 KB

english, 1990

19

Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype

Prateek A. Gupta, Elizabeth A. Putnam, Sonya G. Carmical, Ilkka Kaitila, Beat Steinmann, Anne Child, Cesare Danesino, Kay Metcalfe, Susan A. Berry, Emily Chen, Catherine Vincent Delorme, Meow-Keong Th

Journal:

Year:

2002

Language:

english

File:

PDF, 370 KB

english, 2002

20

Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region

Elke M. Botzenhart, Gabriella Bartalini, Edward Blair, Angela F. Brady, Frances Elmslie, Karen L. Chong, Katie Christy, Wilfredo Torres-Martinez, Cesare Danesino, Matthew A. Deardorff, Jean-Pierre Fry

Journal:

Year:

2007

Language:

english

File:

PDF, 161 KB

english, 2007

21

Advanced magnetic resonance imaging in benign hereditary chorea: Study of two familial cases

Gloria Maccabelli, Anna Pichiecchio, Andrea Guala, Michela Ponzio, Fulvia Palesi, Diego Maranzana, RT, Guy Umberto Poloni, Stefano Bastianello, Cesare Danesino

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 645 KB

english, 2010

22

High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia

Elisabetta Buscarini, Cesare Danesino, Henry Plauchu, Cristina de Fazio, Carla Olivieri, Gianfranco Brambilla, Fernanda Menozzi, Luigi Reduzzi, Pasquale Blotta, Pietro Gazzaniga, Fabio Pagella, Mauriz

Journal:

Ultrasound in Medicine & Biology

Year:

2004

Language:

english

File:

PDF, 342 KB

english, 2004

23

The breakpoints of a constitutional inversion of chromosome 9 associated with haemophagocytic lymphohistiocytosis are not linked to the disease gene

Maurizio Aricò, Claudia Dellavecchia, Mauro Piantanida, Rita Clementi, Henrik Hasle, Valentino Conter, Paolo D'Angelo, Stefania Varotto, Nicola Santoro, Cesare Danesino

Journal:

British Journal of Haematology

Year:

1999

Language:

english

File:

PDF, 342 KB

english, 1999

24

Familial clustering of Langerhans cell histiocytosis

Maurizio Aricò, Kim Nichols, James A. Whitlock, Robert Arceci, Riccardo Haupt, Uwe Mittler, Thomas Kühne, Alessandra Lombardi, Eiichi Ishii, R. Maarten Egeler, Cesare Danesino

Journal:

British Journal of Haematology

Year:

1999

Language:

english

File:

PDF, 83 KB

english, 1999

25

Pathogenesis of haemophagocytic lymphohistiocytosis

Maurizio Aricò, Cesare Danesino, Daniela Pende, Lorenzo Moretta

Journal:

British Journal of Haematology

Year:

2001

Language:

english

File:

PDF, 255 KB

english, 2001

26

Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression

Maurizio Aricò, Michaela Allen, Simona Brusa, Rita Clementi, Daniela Pende, Rita Maccario, Lorenzo Moretta, Cesare Danesino

Journal:

British Journal of Haematology

Year:

2002

Language:

english

File:

PDF, 433 KB

english, 2002

27

Does growth hormone treatment increase chromosomal abnormalities?

Mauro Bozzola, Katia Tettoni, Francesca Severi, Elena Capra, Cesare Danesino, Susi Scappaticci

Journal:

Clinical Endocrinology

Year:

1997

Language:

english

File:

PDF, 139 KB

english, 1997

28

Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: Efficiency, reliability, and risks on 317 completed pregnancies

Bruno Brambati, Giuseppe Simoni, Maurizio Travi, Cesare Danesino, Lucla Tului, Orsola Privitera, Sabine Stioui, Silvana Tedeschi, Silvia Russo, Paola Primignani

Journal:

Prenatal Diagnosis

Year:

1992

Language:

english

File:

PDF, 591 KB

english, 1992

29

Involvement of the region 13q14 in a patient with adamantinoma of the long bones

Gabriella Sozzi, Monica Miozzo, Silvana Palma, Antonella Minelli, Carla Calderone, Cesare Danesino, Ugo Pastorino, Marco A. Pierotti, Giuseppe Della Porta

Journal:

Year:

1990

Language:

english

File:

PDF, 613 KB

english, 1990

30

Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq

Barbara Bardoni, Giovanna Floridia, Silvana Guioli, Giuliana Peverali, Cecilia Anichini, Mariangela Cisternino, Rosario Casalone, Cesare Danesino, Marco Fraccaro, Orsetta Zuffardi, Giovanna Camerino

Journal:

Year:

1993

Language:

english

File:

PDF, 941 KB

english, 1993

31

Clinical, genetic and immunologic analysis of a family affected by ozena

Lucia Medina, Marco Benazzo, Giulia Bertino, Carlo Maurizio Montecucco, Cesare Danesino, Miryam Martinetti, Eugenio Mira

Journal:

European Archives of Oto-Rhino-Laryngology

Year:

2003

Language:

english

File:

PDF, 225 KB

english, 2003

32

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

33

Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?

Mauro Piantanida, Claudia Dellavecchia, Giovanna Floridia, Sabrina Giglio, Heidi Hoeller, Benedetto Dordi, Cesare Danesino, Albert Schinzel, O. Zuffardi

Journal:

Year:

1997

Language:

english

File:

PDF, 109 KB

english, 1997

34

Dietary treatment in adult-onset type II glycogenosis

Sabrina Ravaglia, Anna Pichiecchio, Miriam Rossi, Paola De Filippi, Antonella Minelli, Arrigo Moglia, Cesare Danesino

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 120 KB

english, 2006

35

Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response

Sabrina Ravaglia, Anna Pichiecchio, Michela Ponzio, Cesare Danesino, Kolsoum Saeidi Garaghani, Guy Umberto Poloni, Antonio Toscano, Arrigo Moglia, Annalisa Carlucci, Paola Bini, Mauro Ceroni, Stefano

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 231 KB

english, 2010

36

Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II

Bruno Bembi, Federica Edith Pisa, Marco Confalonieri, Giovanni Ciana, Agata Fiumara, Rossella Parini, Miriam Rigoldi, Arrigo Moglia, Alfredo Costa, Annalisa Carlucci, Cesare Danesino, Maria Gabriela P

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 169 KB

english, 2010

37

Natural History and Outcome of Hepatic Vascular Malformations in a Large Cohort of Patients with Hereditary Hemorrhagic Teleangiectasia

Elisabetta Buscarini, Gioacchino Leandro, Dario Conte, Cesare Danesino, Erica Daina, Guido Manfredi, Guido Lupinacci, Gianfranco Brambilla, Fernanda Menozzi, Federico De Grazia, Pietro Gazzaniga, Gius

Journal:

Digestive Diseases and Sciences

Year:

2011

Language:

english

File:

PDF, 255 KB

english, 2011

38

Enzyme replacement therapy in severe adult-onset glycogen storage disease type II

Sabrina Ravaglia, Cesare Danesino, Anna Pichiecchio, Alessandra Repetto, Guy Umberto Poloni, Miriam Rossi, Pietro Fratino, Arrigo Moglia, Alfredo Costa

Journal:

Advances in Therapy

Year:

2008

Language:

english

File:

PDF, 666 KB

english, 2008

39

Interobserver Agreement in Diagnosing Liver Involvement in Hereditary Hemorrhagic Telangiectasia by Doppler Ultrasound

Elisabetta Buscarini, Michael Gebel, Kenneth Ocran, Guido Manfredi, Giovanna Del Vecchio Blanco, Rumen Stefanov, Carla Olivieri, Cesare Danesino, Alessandro Zambelli

Journal:

Ultrasound in Medicine & Biology

Year:

2008

Language:

english

File:

PDF, 2.09 MB

english, 2008

40

Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langerhans cell histiocytosis

Susi Scappaticci, Cesare Danesino, Elena Rossi, Catherine Klersy, Gian Mario Fiori, Rita Clementi, Valeria Spica Russotto, Grazia Bossi, Maurizio Aricò, the AIEOP-Istiocitosi Group

Journal:

British Journal of Haematology

Year:

2000

Language:

english

File:

PDF, 105 KB

english, 2000

41

Deletion of PAX9 and oligodontia: a third family and review of the literature

ANDREA GUALA, VITTORIO FALCO, GUIDO BREEDVELD, PAOLA DE FILIPPI, CESARE DANESINO

Journal:

International Journal of Paediatric Dentistry

Year:

2008

Language:

english

File:

PDF, 178 KB

english, 2008

42

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene

Rinne, Tuula, Spadoni, Emanuela, Kjaer, Klaus W, Danesino, Cesare, Larizza, Daniela, Kock, Marianne, Huoponen, Kirsi, Savontaus, Marja-Liisa, Aaltonen, Markku, Duijf, Pascal

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 163 KB

english, 2006

43

Electroclinical findings in four patients with karyotype 47,XYY

Claudia Torniero, Bernardo Dalla Bernardina, Elena Fontana, Francesca Darra, Cesare Danesino, Maurizio Elia

Journal:

Brain and Development

Year:

2011

Language:

english

File:

PDF, 752 KB

english, 2011

44

Constitutional trisomy 8 mosaicism in primary myelofibrosis: relevance to clinical practice and warning for trisomy 8 studies

Emanuela Maserati, Barbara Pressato, Roberto Valli, Francesco Patitucci, Francesco Lo Curto, Francesco Pasquali, Antonella Minelli, Cesare Danesino, Monia Marchetti, Giovanni Barosi

Journal:

Cancer Genetics and Cytogenetics

Year:

2007

Language:

english

File:

PDF, 78 KB

english, 2007

45

Isochromosome (7)(q10) in Shwachman Syndrome Without MDS/AML and Role of Chromosome 7 Anomalies in Myeloproliferative Disorders

Emanuela Maserati, Antonella Minelli, Carla Olivieri, Livia Bonvini, Antonietta Marchi, Mauro Bozzola, Cesare Danesino, Susi Scappaticci, Francesco Pasquali

Journal:

Cancer Genetics and Cytogenetics

Year:

2000

Language:

english

File:

PDF, 232 KB

english, 2000

46

Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene

Antonella Minelli, Emanuela Maserati, Giovanni Giudici, Sabrina Tosi, Carla Olivieri, Livia Bonvini, Paola De Filippi, Andrea Biondi, Francesco Lo Curto, Francesco Pasquali, Cesare Danesino

Journal:

Cancer Genetics and Cytogenetics

Year:

2001

Language:

english

File:

PDF, 404 KB

english, 2001

47

Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effects

Emanuela Maserati, Antonella Minelli, Giuseppe Menna, Maria Paola Cecchini, Maria Ester Bernardo, Gabriele Rossi, Paola De Filippi, Francesco Lo Curto, Cesare Danesino, Franco Locatelli, Francesco Pas

Journal:

Cancer Genetics and Cytogenetics

Year:

2004

Language:

english

File:

PDF, 80 KB

english, 2004

48

Ph-positive CML in blastic phase with monosomy 7 in a down syndrome patient: Monitoring by interphase cytogenetics and demonstration of maternal allelic loss

Laura Seghezzi, Claudia Dellavecchia, Emanuela Maserati, Antonella Minelli, Annamaria Carrà, Franco Locatelli, Alessandra Argusti, Francesco Lo Curto, Cesare Danesino, Francesco Pasquali

Journal:

Cancer Genetics and Cytogenetics

Year:

1997

Language:

english

File:

PDF, 403 KB

english, 1997

49

Early Onset of Gastric Carcinoma and Constitutional Deletion of 18p

Claudia Dellavecchia, Andrea Guala, Carla Olivieri, Oscar Haintink, Francesco Cadario, Ombretta Luinetti, Roberto Fiocca, Antonella Minelli, Cesare Danesino, Gianni Bona

Journal:

Cancer Genetics and Cytogenetics

Year:

1999

Language:

english

File:

PDF, 1.93 MB

english, 1999

50

Detection of homozygotes and heterozygotes for metachromatic leukodystrophy in lymphoid cell lines and peripheral leukocytes

NICHOLAS G. BERATIS, CESARE DANESINO, KURT HIRSCHHORN

Journal:

Annals of Human Genetics

Year:

1975

Language:

english

File:

PDF, 576 KB

english, 1975