Bruno Drera: search on Z-Library

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1

Arterial tortuosity syndrome in two Italian paediatric patients

Marco Ritelli, Bruno Drera, Mariano Vicchio, Giovanni Puppini, Paolo Biban, Mara Pilati, Maria Antonia Prioli, Sergio Barlati, Marina Colombi

Journal:

Orphanet Journal of Rare Diseases

Year:

2009

Language:

english

File:

PDF, 852 KB

english, 2009

2

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients

Bruno Drera, Marco Ritelli, Nicoletta Zoppi, Anita Wischmeijer, Maria Gnoli, Rossella Fattori, Pier Giacomo Calzavara-Pinton, Sergio Barlati, Marina Colombi

Journal:

Orphanet Journal of Rare Diseases

Year:

2009

Language:

english

File:

PDF, 712 KB

english, 2009

3

Compound heterozygosity for a novel and a recurrent ABCC6 gene mutation in an Italian family with Pseudoxanthoma elasticum

Drera, Bruno, Brezzi, Andrea, Zoppi, Nicoletta, Venturini, Marina, Barlati, Sergio, Pinton, Pier Giacomo Calzavara, Colombi, Marina

Journal:

Journal of Dermatological Science

Year:

2008

Language:

english

File:

PDF, 1.86 MB

english, 2008

4

A case of neonatal Jeune syndrome expanding the phenotype

Drera, Bruno, Ferrari, Daniela, Cavalli, Pietro, Poggiani, Carlo

Journal:

Clinical Case Reports

Year:

2014

Language:

english

File:

PDF, 299 KB

english, 2014

5

Clinical, neuroradiological and molecular features of a patient affected by pseudoxhantoma elasticum associated to carotid rete mirabile: Case report

Elisabetta Del Zotto, Marco Ritelli, Alessandro Pezzini, Bruno Drera, Massimo Gamba, Alessia Giossi, Irene Volonghi, Paolo Costa, Sergio Barlati, Roberto Gasparotti, Alessandro Padovani, Marina Colomb

Journal:

Clinical Neurology and Neurosurgery

Year:

2012

Language:

english

File:

PDF, 532 KB

english, 2012

6

Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations

Drera, Bruno, Zoppi, Nicoletta, Ritelli, Marco, Barlati, Sergio, Colombi, Marina, Tadini, Gianluca, Venturini, Marina, Calzavara-Pinton, Piergiacomo, Wischmeijer, Anita, Nicolazzi, Maria Anna, Musumec

Journal:

Journal of Dermatological Science

Year:

2011

Language:

english

File:

PDF, 450 KB

english, 2011

7

Erratum to “Letter to the Editor – Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations” [J. Dermatol. Sci. 64 (2011) 237–248]

Drera, Bruno, Zoppi, Nicoletta, Ritelli, Marco, Tadini, Gianluca, Venturini, Marina, Wischmeijer, Anita, Nicolazzi, Maria Anna, Musumeci, Alfredo, Penco, Silvana, Buscemi, Loredana, Crivelli, Sara, Da

Journal:

Journal of Dermatological Science

Year:

2012

File:

PDF, 93 KB

2012

8

Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome

Bruno Drera, Andrea Guala, Nicoletta Zoppi, Rita Gardella, Piergiorgio Franceschini, Sergio Barlati, Marina Colombi

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 139 KB

english, 2007

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