Danesino, C.: search on Z-Library

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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

Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations

Villa, R., Fergnani, V.G.C., Silipigni, R., Guerneri, S., Cinnante, C., Guala, A., Danesino, C., Scola, E., Conte, G., Fumagalli, M., Gangi, S., Colombo, L., Picciolini, O., Ajmone, P.F., Accogli, A.,

Journal:

European Journal of Paediatric Neurology

Year:

2020

File:

PDF, 1.92 MB

2020

3

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

4

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

5

Jo-Jo, Josephine, and Joanne: A Study of Multiple Personality by Means of the Rorschach Test

Danesino, Angelo, Daniels, Joseph, McLaughlin, Thomas J.

Journal:

Journal of Personality Assessment

Year:

1979

Language:

english

File:

PDF, 1.18 MB

english, 1979

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

Color Doppler ultrasonography of the abdominal aorta

S. Battaglia, G.M. Danesino, V. Danesino, S. Castellani

Journal:

Journal of Ultrasound

Year:

2010

Language:

english

File:

PDF, 2.31 MB

english, 2010

8

Ultrasound of the elbow: Examination techniques and US appearance of the normal and pathologic joint

F. Draghi, G.M. Danesino, R. de Gautard, S. Bianchi

Journal:

Journal of Ultrasound

Year:

2007

Language:

english

File:

PDF, 1.85 MB

english, 2007

9

Enzyme replacement therapy in adult-onset glycogenosis II: Is quantitative muscle MRI helpful?

A. Pichiecchio, G.U. Poloni, S. Ravaglia, M. Ponzio, G. Germani, D. Maranzana, A. Costa, A. Repetto, E. Tavazzi, C. Danesino, A. Moglia, S. Bastianello

Journal:

Year:

2009

Language:

english

File:

PDF, 89 KB

english, 2009

10

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

11

Radiographic evaluation of teeth subjected to high temperatures: Experimental study to aid identification processes

C. Savio, G. Merlati, P. Danesino, G. Fassina, P. Menghini

Journal:

Forensic Science International

Year:

2006

Language:

english

File:

PDF, 338 KB

english, 2006

12

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

13

Overload syndromes of the knee in adolescents: Sonographic findings

F. Draghi, G.M. Danesino, D. Coscia, M. Precerutti, C. Pagani

Journal:

Journal of Ultrasound

Year:

2008

File:

PDF, 890 KB

2008

14

Knee arthroplasty system with medialized keel: Seven-year follow-up of a pioneer cohort

Benazzo, F., Jannelli, E., Ivone, A., Formagnana, M., Rossi, S.M., Ghiara, M., Danesino, G., Mosconi, M.

Journal:

Year:

2020

File:

PDF, 1.31 MB

2020

15

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

16

First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B

Antonella Minelli, C. Danesino, F. Lo Curto, Patrizia Tenti, Clementina Zampatti, G. Simoni, Franca Rossella, A. Fois

Journal:

Prenatal Diagnosis

Year:

1988

Language:

english

File:

PDF, 460 KB

english, 1988

17

Angiotensin converting enzyme gene deletion allele is independently and strongly associated with coronary atherosclerosis and myocardial infarction.

Arbustini, E., Grasso, M., Fasani, R., Klersy, C., Diegoli, M., Porcu, E., Banchieri, N., Fortina, P., Danesino, C., Specchia, G.

Journal:

Heart (BMJ Pub. Group)

Year:

1995

Language:

english

File:

PDF, 1.77 MB

english, 1995

18

Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.

Digilio, M C, Giannotti, A, Floridia, G, Uccellatore, F, Mingarelli, R, Danesino, C, Dallapiccola, B, Zuffardi, O

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 1.03 MB

english, 1994

19

18 F-fluorodexyglucose Position Emission Tomography identifies altered brain metabolism in patients with Cri du Chat syndrome

Cistaro, Angelina, Quartuccio, Natale, Piccardo, Arnoldo, Fania, Piercarlo, Spunton, Marianna, Liava, Alexandra, Danesino, Cesare, Albani, Giovanni, Guala, Andrea

Journal:

Journal of Nuclear Medicine

Year:

2019

File:

PDF, 1.34 MB

2019

20

Kommerell's diverticulum and early endovascular treatment

Bozzani, Antonio, Danesino, Vittorio, Franciscone, Mila

Journal:

The Annals of Thoracic Surgery

Year:

2020

File:

PDF, 330 KB

2020

21

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

22

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population

Musumeci, O., la Marca, G., Spada, M., Mondello, S., Danesino, C., Comi, G. P., Pegoraro, E., Antonini, G., Marrosu, G., Liguori, R., Morandi, L., Moggio, M., Massa, R., Ravaglia, S., Di Muzio, A., Fi

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2015

Language:

english

File:

PDF, 246 KB

english, 2015

23

Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.

Rossi, E, Floridia, G, Casali, M, Danesino, C, Chiumello, G, Bernardi, F, Magnani, I, Papi, L, Mura, M, Zuffardi, O

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 1.99 MB

english, 1993

24

Shwachman-Diamond Syndrome and Type 1 Diabetes Mellitus: More Than a Chance Association?

Gana, S., Sainati, L., Frau, M. R., Monciotti, C., Poli, F., Cannioto, Z., Comelli, M., Danesino, C., Minelli, A.

Journal:

Experimental and Clinical Endocrinology & Diabetes

Year:

2011

Language:

english

File:

PDF, 152 KB

english, 2011

25

PTOSIS AS A FEATURE OF LATE-ONSET GLYCOGENOSIS TYPE II

Ravaglia, S., Repetto, A., De Filippi, P., Danesino, C., Leen, W .G., Groen, W .B., Vos, M ., Cruysberg, J .R.M., van Doorn, P .A., van Engelen, B .G.M.

Journal:

Year:

2007

Language:

english

File:

PDF, 118 KB

english, 2007

26

Treatment of epistaxis in hereditary hemorrhagic telangiectasia patients by argon plasma coagulation with local anesthesia

Pagella, Fabio, Semino, Lucia, Olivieri, Carla, Corno, Sabrina, Dore, Roberto, Draghi, Ferdinando, Lanzarini, Luca, Vespro, Valentina, Buscarini, Elisabetta, Danesino, Cesare

Journal:

American Journal of Rhinology

Year:

2006

Language:

english

File:

PDF, 131 KB

english, 2006

27

Severe Acute Respiratory Syndrome Coronavirus 2 Infection and the Upper Limb Deep Vein Thrombosis Risk

Bozzani, Antonio, Arici, Vittorio, Franciscone, Mila Maria, Danesino, Vittorio, Cascina, Alessandro, Ticozzelli, Giulia, Ragni, Franco

Journal:

Annals of Vascular Surgery

Year:

2020

File:

PDF, 433 KB

2020

28

Ethyl-glucuronide and ethyl-sulfate in placental and fetal tissues by liquid chromatography coupled with tandem mass spectrometry

Luca Morini, Maria Falcón, Simona Pichini, Oscar Garcia-Algar, Paolo Danesino, Angelo Groppi, Aurelio Luna

Journal:

Analytical Biochemistry

Year:

2011

Language:

english

File:

PDF, 447 KB

english, 2011

29

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:

Clinical Genetics

Year:

1978

Language:

english

File:

PDF, 75 KB

english, 1978

30

Maternal germinal mosaicism for SCN1A in sibs with a mild form of Dravet syndrome

Guala, Andrea, Peruzzi, Cinzia, Gennaro, Elena, Pennese, Loredana, Danesino, Cesare

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 139 KB

english, 2015

31

Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry

Cetica, Valentina, Sieni, Elena, Pende, Daniela, Danesino, Cesare, De Fusco, Carmen, Locatelli, Franco, Micalizzi, Concetta, Putti, Maria Caterina, Biondi, Andrea, Fagioli, Franca, Moretta, Lorenzo, G

Journal:

Journal of Allergy and Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 1011 KB

english, 2015

32

Characterization of a mutation in the zona pellucida module of Endoglin that causes hereditary hemorrhagic telangiectasia

Ruiz-Llorente, Lidia, Chiapparino, Elisa, Plumitallo, Sara, Danesino, Cesare, Bayrak-Toydemir, Pinar, Pagella, Fabio, Manfredi, Guido, Bernabeu, Carmelo, Jovine, Luca, Olivieri, Carla

Journal:

Year:

2019

Language:

english

File:

PDF, 2.73 MB

english, 2019

33

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

34

JAK2 gene mutation is not a common event in JMML and is not involved in the pathogenesis of the disease

M. Zecca, G. Bergamaschi, E. Bergsträßer, C. Danesino, P. De Filippi, H. Hasle, C.P. Kratz, D. Lisini, F. Locatelli, A. Pession, L. Sainati, J. Starý, M. Trebo, M.M. van den Heuvel-Eibrink, D. Wójcik,

Journal:

Leukemia Research

Year:

2006

Language:

english

File:

PDF, 143 KB

english, 2006

35

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

36

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

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

Twenty-five novel mutations including duplications in the ATP7A gene

M-P Moizard, N Ronce, S Blesson, E Bieth, L Burglen, C Mignot, I Mortemousque, N Marmin, B Dessay, C Danesino, F Feillet, P Castelnau, A Toutain, C Moraine, M Raynaud

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 644 KB

english, 2011

39

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

40

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

41

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

42

Palmar and finger varicosities: Presentation of a case

S. Battaglia, G.M. Danesino, F. Draghi

Journal:

Journal of Ultrasound

Year:

2008

Language:

english

File:

PDF, 363 KB

english, 2008

43

Riflessioni medico-legali in traumatologia ortodontica

Marić, M., Leone, F., Danesino, P.

Journal:

Mondo Ortodontico

Year:

2010

File:

PDF, 442 KB

2010

44

Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome

Nacci, Lucia, Danesino, Cesare, Sainati, Laura, Longoni, Daniela, Poli, Furio, Cipolli, Marco, Perobelli, Sandra, Nicolis, Elena, Cannioto, Zemira, Morini, Jacopo, Valli, Roberto, Pasquali, Francesco,

Journal:

British Journal of Haematology

Year:

2014

Language:

english

File:

PDF, 158 KB

english, 2014

45

Ocular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): A case-series

Rinaldi, Michele, Buscarini, Elisabetta, Danesino, Cesare, Chiosi, Flavia, De Benedictis, Antonella, Porcellini, Antonio, Costagliola, Ciro

Journal:

Ophthalmic Genetics

Year:

2011

Language:

english

File:

PDF, 897 KB

english, 2011

46

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

47

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

48

Breast cancer and genetics

L. Boeri, C. Canzonieri, C. Cagioni, F. Ornati, C. Danesino

Journal:

Journal of Ultrasound

Year:

2011

Language:

english

File:

PDF, 174 KB

english, 2011

49

Anesthesia in Cri du Chat syndrome: Information on 51 Italian patients

Guala, Andrea, Spunton, Marianna, Mainardi, Paola Cerruti, Emmig, Uta, Acucella, Gabriela, Danesino, Cesare

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 129 KB

english, 2015

50

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

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