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2. The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studies
作者：Carla Colombo (1)
Emanuela Minna (2)
Maria Grazia Rizzetti (2)
Paola Romeo (2)
Daniele Lecis (3)
Luca Persani (4)
Piera Mondellini (3)
Marco A Pierotti (5)
Angela Greco (2)
Laura Fugazzola (6)
Maria Grazia Borrello (2)

1. Department of Clinical Sciences and Community Health ; University of Milan ; and Endocrine Unit ; Fondazione IRCCS Ca鈥?Granda ; Milan ; Italy
2. Molecular Mechanisms Unit ; Department of Experimental Oncology and Molecular Medicine ; Fondazione IRCCS Istituto Nazionale dei Tumori ; Milan ; Italy
3. Department of Experimental Oncology and Molecular Medicine ; Fondazione IRCCS Istituto Nazionale dei Tumori ; Milan ; Italy
4. Department of Clinical Sciences and Community Health ; University of Milan ; and Division of Endocrine and Metabolic Diseases ; Ospedale San Luca ; IRCCS Istituto Auxologico Italiano ; Milan ; Italy
5. Scientific Directorate ; Fondazione IRCCS Istituto Nazionale dei Tumori ; Milan ; Italy
6. Department of Pathophysiology and Transplantation ; Endocrine Unit ; Fondazione IRCCS Ca鈥?Granda Ospedale Maggiore Policlinico ; Milan ; University of Milan ; Milan ; Italy
刊名：Orphanet Journal of Rare Diseases
出版年：2015
3. New spastic paraplegia phenotype associated to mutation of NFU1
作者：Davide Tonduti (1) (2)
Imen Dorboz (1)
Apolline Imbard (3)
Abdelhamid Slama (4)
Audrey Boutron (4)
Samia Pichard (5)
Monique Elmaleh (6)
Louis Vall茅e (7)
Jean Fran莽ois Benoist (3)
Hel茅ne Ogier (5)
Odile Boespflug-Tanguy (1) (5)

1. Paris Diderot University 鈥?Sorbonne Paris Cit茅 ; Inserm U1141 ; DHU PROTECT ; Robert Debr茅 Hospital ; Paris ; France
2. Department of Brain and Behavioral Sciences ; Unit of Child Neurology and Psychiatry ; University of Pavia ; Pavia ; Italy
3. Hormonology and Biochemistry Departement ; Robert Debr茅 Hospital ; AP-HP ; Paris ; France
4. Department of Biochemistry ; Bicetre Hospital ; AP-HP ; Le Kremlin Bicetre ; France
5. Departement of Neuropediatrics and Metabolic Diseases ; Robert Debr茅 Hospital ; AP-HP ; 48 ; Boulevard S茅rurier ; 75019 ; Paris ; France
6. Departement of Pediatric Radiology ; Robert Debr茅 Hospital ; AP-HP ; Paris ; France
7. Department of Neuropediatrics ; CHRU ; University Lille North ; Lille ; France
刊名：Orphanet Journal of Rare Diseases
出版年：2015
4. Rationale, design and objectives of ARegPKD, a European ARPKD registry study
作者：Kathrin Ebner (1)
Markus Feldkoetter (2)
Gema Ariceta (3)
Carsten Bergmann (4) (5)
Reinhard Buettner (6)
Anke Doyon (7)
Ali Duzova (8)
Heike Goebel (6)
Dieter Haffner (9)
Barbara Hero (1)
Bernd Hoppe (2)
Thomas Illig (10) (11)
Augustina Jankauskiene (12)
Norman Klopp (10)
Jens K枚nig (13)
Mieczyslaw Litwin (14)
Djalila Mekahli (15)
Bruno Ranchin (16)
Anja Sander (17)
Sara Testa (18)
Lutz Thorsten Weber (1)
Dorota Wicher (14)
Ayse Yuzbasioglu (19)
Klaus Zerres (20)
J枚rg D枚tsch (1)
Franz Schaefer (7)
Max Christoph Liebau (1) (21) (22)
ESCAPE Study Group
GPN Study Group

1. Department of Pediatrics ; University Hospital of Cologne ; Kerpener Str. 62 ; 50937 ; Cologne ; Germany
2. Department of Pediatrics ; University Hospital Bonn ; Adenauerallee 119 ; 53113 ; Bonn ; Germany
3. Department of Pediatric Nephrology ; University Hospital Vall d鈥橦ebron ; Pg/Vall d鈥?Hebron 119-129 ; 08034 ; Barcelona ; Spain
4. Bioscientia Center for Human Genetics ; Konrad-Adenauer-Stra脽e 17 ; 55218 ; Ingelheim ; Germany
5. Renal Division ; Department of Medicine ; University Freiburg Medical Center ; Hugstetter Stra脽e 55 ; 79106 ; Freiburg ; Germany
6. Institute of Pathology ; University Hospital of Cologne ; Kerpener Str. 62 ; 50937 ; Cologne ; Germany
7. Division of Pediatric Nephrology ; University Children鈥檚 Hospital Heidelberg ; Im Neuenheimer Feld 430 ; 69120 ; Heidelberg ; Germany
8. Department of Pediatrics ; Division of Pediatric Nephrology ; Hacettepe University Faculty of Medicine ; Sihhiye ; 06100 ; Ankara ; Turkey
9. Department of Pediatric Kidney ; Liver and Metabolic Diseases ; Hannover Medical School ; Carl-Neuberg-Strasse 1 ; 30625 ; Hannover ; Germany
10. Hannover Unified Biobank ; Hannover Medical School ; Carl-Neuberg-Strasse 1 ; 30625 ; Hannover ; Germany
11. Institute for Human Genetics ; Hannover Medical School ; Carl-Neuberg-Strasse 1 ; 30625 ; Hannover ; Germany
12. Vilnius University Hospital ; Center for Pediatrics ; Santariskiu ; 08406 ; Vilnius ; Lithuania
13. Department of General Pediatrics ; University Hospital M眉nster ; Waldeyerstr. 22 ; 48149 ; Muenster ; Germany
14. The Children鈥檚 Memorial Health Institute ; Al. Dzieci Polskich 20 ; 04-730 ; Warsaw ; Poland
15. Department of Pediatric Nephrology ; University Hospitals Leuven ; Herestrtaat 49 ; 3000 ; Leuven ; Belgium
16. Service de N茅phrologie P茅diatrique ; Hospices Civils de Lyon ; Universit茅 de Lyon ; H么pital Femme M猫re Enfant ; 69677 ; Bron ; France
17. Institute of Medical Biometry and Informatics ; University of Heidelberg ; Im Neuenheimer Feld 305 ; 69120 ; Heidelberg ; Germany
18. Pediatric Nephrology Unit ; Fondazione IRCCS Ca Granda Ospedale Maggiore Polic ; Via della Commenda 9 ; 20122 ; Milano ; Italy
19. Department of Medical Biology ; Center for Biobanking and Genomics ; Hacettepe University ; Ankara ; Turkey
20. Institute of Human Genetics ; RWTH University Hospital Aachen ; Pauwelsstrasse 30 ; 52074 ; Aachen ; Germany
21. Center for Molecular Medicine ; University Hospital of Cologne ; Robert-Koch-Str. 21 ; 50931 ; Cologne ; Germany
22. Nephrology Research Laboratory ; Department II of Internal Medicine ; University Hospital of Cologne ; CECAD Building ; Joseph-Stelzmann-Str. 26 ; 50931 ; Cologne ; Germany
刊名：BMC Nephrology
出版年：2015
7. Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment
作者：Catia Cavicchi (1)
Maria Alice Donati (2)
Rossella Parini (3)
Miriam Rigoldi (3)
Mauro Bernardi (4)
Francesca Orfei (5)
Nicol貌 Gentiloni Silveri (6)
Aniello Colasante (7)
Silvia Funghini (8)
Serena Catarzi (1)
Elisabetta Pasquini (2)
Giancarlo la Marca (8) (9)
Sean David Mooney (10)
Renzo Guerrini (11) (9)
Amelia Morrone (1) (9)

1. Molecular and Cell Biology Laboratory ; Pediatric Neurology Unit and Laboratories ; Neuroscience Department ; A. Meyer Children鈥檚 Hospital ; Viale Pieraccini 24 ; 50139 ; Florence ; Italy
2. Metabolic and Muscular Unit ; A. Meyer Children鈥檚 Hospital ; Florence ; Italy
3. Rare Metabolic Diseases Unit ; Department of Pediatrics ; Fondazione MBBM ; San Gerardo Hospital ; Monza ; Italy
4. Department of Medical and Surgical Sciences ; University of Bologna ; Bologna ; Italy
5. Intensive Care Unit ; S. Maria della Misericordia Hospital ; Perugia ; Italy
6. Department of Emergency Medicine ; School of Medicine ; Catholic University of the Sacred Heart ; Rome ; Italy
7. Intensive Care Unit ; ASL Salerno 2 ; Eboli Hospital ; Eboli ; Italy
8. Newborn Screening Biochemistry and Pharmacology Laboratory ; Pediatric Neurology Unit and Laboratories ; Neuroscience Department ; A. Meyer Children鈥檚 Hospital ; Florence ; Italy
9. Department of Neurosciences ; Psychology ; Pharmacology and Child Health ; University of Florence ; Florence ; Italy
10. Buck Institute for Research on Aging ; Novato ; CA ; USA
11. Pediatric Neurology Unit and Laboratories ; Neuroscience Department ; A. Meyer Children鈥檚 Hospital ; Florence ; Italy
刊名：Orphanet Journal of Rare Diseases
出版年：2014
8.Prospects in the Treatment of Rare Diseases 2nd International Conference Trieste, Italy, 23–26 May 2001
作者：Bembi ; Bruno
刊名：Journal of Inherited Metabolic Disease
出版年：2001
9.Prospects in the Treatment of Rare Diseases 2nd International Conference Trieste, Italy, 23–26 May 2001
作者：Bembi ; Bruno
刊名：Journal of Inherited Metabolic Disease
出版年：2001
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