نتایج جستجو برای: berardinelli

تعداد نتایج: 127  

Journal: :journal of skin and stem cell 0
vishalakshi s. pandit department of dermatology, hospital and research centre, venereology and leprosy, sbmp medical college, blde university, bijapur, india; department of dermatology, hospital and research centre, venereology and leprosy, sbmp medical college, blde university, p. o. box: 586103, bijapur, india. tel: +91-9844381033 arun c. inamadar department of dermatology, hospital and research centre, venereology and leprosy, sbmp medical college, blde university, bijapur, india aparna palit department of dermatology, hospital and research centre, venereology and leprosy, sbmp medical college, blde university, bijapur, india

conclusions metabolic abnormalities in bscl may prove fatal necessitating optimal therapeutic and preventive measures. patients are advised low fat diet with enhanced physical activities. other treatments include metformin, n-3 polyunsaturated fatty acids and leptin replacement for correction of metabolic complications. we report this case of bscl in view of its rarity. case presentation an 18 ...

Journal: :Diabetes 2008
Victoria A. Payne Neil Grimsey Antoinette Tuthill Sam Virtue Sarah L. Gray Edoardo Dalla Nora Robert K. Semple Stephen O'Rahilly Justin J. Rochford

OBJECTIVE Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is a recessive disorder featuring near complete absence of adipose tissue. Remarkably, although the causative gene, BSCL2, has been known for several years, its molecular function and its role in adipose tissue development have not been elucidated. Therefore, we examined whether BSCL2 is involved in the regulation of adipocyte ...

2013
Birgit Knebel Jorg Kotzka Stefan Lehr Sonja Hartwig Haluk Avci Sylvia Jacob Ulrike Nitzgen Martina Schiller Winfried März Michael M Hoffmann Eva Seemanova Jutta Haas Dirk Muller-Wieland

BACKGROUND Congenital generalized lipodystrophy (CGL) or Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare genetic syndrome characterized by the absence of adipose tissue. As CGL is thought to be related to malfunctions in adipocyte development, genes involved in the mechanisms of adipocyte biology and maintenance or differentiation of adipocytes, especially transcription factors are ...

1993
Douglas L. Franzen Gordon W. Day

The seventh Symposium on Optical Fiber Measurements was held on September 15-17, 1992 at NIST in Boulder, CO. Over 220 people attended the two and a half day meeting and heard a program consisting of 11 invited and 43 contributed papers with over half the papers coming from outside the United States. In addition, 10 committees associated with standards organizations like the Telecommunication I...

Journal: :iranian journal of child neurology 0
parvaneh karimzadeh associate professor, pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran ahad ghazavi assistant professor, pediatric neurology research center, urmia university of medical sciences, urmia, iran

how to cite this article: karimzadeh p, ghazavi a. comparison of deflazacort and prednisone in duchenne muscular dystrophy. iranianjournal of child neurology 2012;6(1):5-12. objective duchenne muscular dystrophy (dmd) is a degenerative disease that usually becomes clinically detectable in childhood as progressive proximal weakness. no cure is yet available for dmd, but the use of steroids impro...

2017
G. Astrea A. D'Amico R. Battini A. Berardinelli E. Bertini C. Bruno D. Cassandrini M. Catteruccia G.P. Comi F. Fattori C. Fiorillo M. Giannotta K. Gorni F. Magri E. Mercuri S. Messina T. Mongini M. Mora F. Morani F. Moro M. Pane E. Pegoraro A. Pini L. Politano F. Ricci M. Sframeli F.M. Santorelli L. Bello F. Magri A. Lazzarotto C. Semplicini M. Fanin S. Gandossini E. Diella M.G. D'Angelo G.P. Comi E. Pegoraro S. Bertoli G. Baranello A. Foppiani E. Giaquinto R. De Amicis A. Leone A. Battezzati G. Brisca M. Pedemonte F. Trucco M. Ferretti M.C. Diana G.M. Magnano M. Valle P. Broda C. Minetti C. Fiorillo C. Bruno T. Brizzi E. Barca F. Biasini A. Lupica G. Vita R.L. Mazzei O. Musumeci C. Rodolico A. Toscano D. Cassandrini R. Trovato A. Rubegni S. Lenzi J. Baldacci C. Fiorillo M. Savarese V. Nigro C. Bruno G. Astrea F.M. Santorelli A. Berardinelli E. Bertini G. Comi A. D'Amico M.A. Donati M.T. Dotti F. Fattori M. Grandis L. Maggi F. Magri M.A. Maioli A. Malandrini F. Mari R. Massa E. Mercuri L. Merlini M. Moggio M. Mora O. Musumeci M. Pane E. Pegoraro E.M. Pennisi L. Peverelli G. Ricci C. Rodolico L. Ruggiero M. Sacchini L. Santoro G. Siciliano A. Simonati P. Tonin A. Toscano G.P. Comi E. Bertini F. Magri X. Luo J. McIntosh T. Ong P. Riebling P. Triffilis M. Souza S.W. Peltz E. Mercuri C. Danesino S. Ravaglia C. Scotti P. De Filippi E. Falcier E. De Mattia G. Sannicolò A. Lizio M. Iatomasi S. Lupone E. Mollar V. Castino E. Roma C. Conti F. Rao V.A. Sansone M.S. Falzarano S. Gherardi M. Bovolenta C. Passarelli D. Erriquez C. Scotton A. Armaroli R. Rossi H. Osman M. Mora P. Bernasconi L. Maggi L. Morandi G. Perini A. Ferlini A. Farinato C. Altamura P. Imbrici L. Maggi R. Mantegazza M. Filosto G. Siciliano V.A. Sansone M. Lo Monaco D. Conte Camerino J.-F. Desaphy M. Filosto S. Cotti Piccinelli M. Marchesi A. Di Muzio M.A. Donati A. Galvagni A. Lerario G. Marrosu M. Moggio T. Mongini O. Musumeci E. Pegoraro R. Piras S. Ravaglia M. Sacchini C. Sancricca C. Semplicini S. Servidei G. Siciliano R. Telese P. Tonin F. Caria S. Rota A. Padovani A. Toscano C. Fiorillo F. Madia A. Robbiano G. Pozzolini F. Trucco M. Pedemonte M.C. Diana M. Grandis C. Gemelli S. Fabbri A. Schenone F.M. Nobili T. Foiadelli C. Trabatti S. Savasta M.C. Schiaffino P. Picco G. Morcaldi M.E. Celle M. Mancuso P. Tonin P. Mandich C. Bruno F. Zara S. Gibertini S. Saredi M.B. Pasanisi A. Ardissone I. Moroni G. Baranello L. Peverelli P. Tonin S.C. Previtali M. Grandis C. Gemelli E. Canioni P. Bernasconi R. Mantegazza L. Morandi L. Maggi M. Mora A. Ruggieri T. Giugliano A. Garofalo M. Savarese A. Torella O. Musumeci L. Maggi L. Ruggiero L. Vercelli A. D'Amico C. Fiorillo F. Magri G. Piluso J. De Bleecker A. Toscano M. Mora L. Santoro T. Mongini E. Bertini C. Bruno G.P. Comi F.M. Santorelli C. Angelini L. Politano V. Nigro A. Govoni F. Magri S. Salani R. Del Bo M. Taiana G. Forotti N. Bresolin G.P. Comi M. Nizzardo S. Corti M. Guglieri P. Clemens A. Cnaan J. Damsker H. Gordish-Dressman L. Morgenroth R. Davis A. Smith K. Storch R. Head J. Demotes-Mainard K. Nagaraju Y. Hathout D. Athanasiou E. Vroom K. Bushby E. Hoffman L.P. Lowes L. Alfano R.A. Dracker P. Duda J.R. Mendell M. Lucchini C. De Fino G. Tasca G. Primiano E. Ricci G. Silvestri S. Servidei M. Mirabella A. Martinuzzi M. Vavla O. Musumeci G. Siciliano A. Toscano C. Bruno R. Mati Seves R. Massa G. Greco M. Testi G. Antonini G.A. Marfia E. Rastelli C. Terracciano E. Pompeo M. Andreani F. Montagnese S. Mondello S. Wenninger B. Schoser O. Musumeci T. Mongini C. Angelini C. Bruno M. Moggio G. Siciliano P. Tonin L. Maggi A. Martinuzzi M. Filosto S. Servidei A. Donati B. Bembi G. Marrosu G. Di Iorio S. Ravaglia E. Pegoraro E. Bertini A. Di Muzio A. Fiumara R. Massa A. Toscano M. Neri R. Selvatici M.S. Falzarano C. Trabanelli A. Ravani P. Rimessi M. Fabris C. Scotton A. Mauro F. Fortunato H. Osman R. Rossi A. Armaroli B. Buldrini L. Merlini M. Mora K. Gorni V. Sansone T. Mongini E. Pegoraro P. Tonin C. Fiorillo A. Pini M. Filosto A. D'Amico E. Bertini S. Messina G. Vita M. Pane E. Mercuri F. Muntoni S. Fini F. Gualandi A. Ferlini D. Piga P. Rinchetti S. Salani L. Calandriello G. Forotti M. Nizzardo F. Magri G.P. Comi S. Corti R. Piras M.A. Maioli M.R. Murru G. Costa E. Solla C. Mancosu R. Mammoliti G. Marrosu A. Roos M. Wiessner D. Cox D. Hathazi C. Marini-Bettolo V. Straub R. Barresi J. Senderek H. Lochmüller R. Rossi C. Scotton L. Maggi A. D'Amico G. Ricci L. Vercelli S. Benedetti E. Bertini E. Mercuri C. Rodolico T. Mongini N. Carboni G. Marrosu L. Chico L. Santoro L. Merlini G. Lattanzi L. Morandi P.J.R. Barton R. Buchan R. Walsh S.A. Cook H. Milting G. Bonne T. Brand A. Ferlini L. Ruggiero F. Mele G. Ricci L. Vercelli M. Govi A. Nikolic M. Louise F. Sera A. Berardinelli C. Angelini G. Antonini E. Bucci M. Filosto M. Cao E. Giardina E. Pegoraro A. Di Muzio R. Telese L. Maggi S. Portaro C. Rodolico L. Villa T. Mongini G. Siciliano G. Tomelleri G. D'Angelo M.A. Maioli M. Moggio L. Santoro R. Tupler M. Savarese M. Johari K. Johnson A. Torella A. Topf A. Evilä M. Arumilli A. Rubegni M. Kuhn F. Fattori F.M. Santorelli B. Schoser V. Straub V. Nigro P. Hackman B. Udd M. Soardi M. Carotti C. Fecchio R. Sacchetto D. Sandonà F. Trucco M. Pedemonte C. Romano A. Wenzel P. Tacchetti C. Bella R. Falsaperla F. Racca C. Bruno C. Minetti G.L. Vita A. Catalano M. Sframeli M.G. Distefano M. La Rosa C. Barcellona C. Bonanno G. Nicocia C. Profazio N. Morabito C. Lunetta S. Messina S. Zanotti S. Gibertini F. Blasevich S. Saredi L. Maggi C. Bragato A. Ruggieri R. Mantegazza

S OF ORAL COMMUNICATIONS (in alphabetical order of the first Author) Glycosilation of alpha-dystroglycan: one pathway several phenotypes Astrea G., D’Amico A., Battini R., Berardinelli A., Bertini E. , Bruno C., Cassandrini D. , Catteruccia M., Comi G.P., Fattori F., Fiorillo C., Giannotta M., Gorni K., Magri F., Mercuri E., Messina S., Mongini T. , Mora M., Morani F., Moro F., Pane M., Pegorar...

2004
T. Kälbe

itool=iconabstr 2. Wyner LM, McElroy JB, Hodge EE, Peidmonte M, Novick AC. Use of kidneys from older cadaver donors for renal transplantation. Urology 1993;41:107-110. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8497979&dopt= Abstract&itool=iconabstr 3. Cicciarelli J, Iwaki Y, Mendez R. The influence of donor age on kidney graft survival in the 1990s. Clin Tra...

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