Home News About Us Contact Contributors Disclaimer Privacy Policy Help FAQ

Home
Search
Quick Search
Advanced
Fulltext
Browse
Collections
Persons
My eDoc
Session History
Login
Name:
Password:
Documentation
Help
Support Wiki
Direct access to
document ID:


          Display Documents


Institute:
Collection:
Print in Citation style Print version     Display:
Sort by: Display records with Fulltext only
Entries: 1-9  
 Basket 
Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
Authors: Musante, Luciana; Kunde, Stella-Amrei; Sulistio, Tina O.; Frints, Suzanna G.M.; Schwartz, Charles E.; Martínez, Francisco; Romano, Corrado; Ropers, Hans-Hilger; Kalscheuer, Vera M.; Fischer, Ute; Grimme, Astrid
Date of Publication (YYYY-MM-DD): 2010-01-01
Title of Journal: Human Mutation
Volume: 31
Issue / Number: 1
Start Page: 90
End Page: 98
Document Type: Article
ID: 533752.0
 
Full text / Content available
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome
Authors: Neumann, Thomas E; Allanson, Judith; Kavamura, Ines; Kerr, Bronwyn; Neri, Giovanni; Noonan, Jacqueline; Cordeddu, Viviana; Gibson, Kate; Tzschach, Andreas; Krüger, Gabriele; Hoeltzenbein, Maria; Goecke, Timm O; Kehl, Hans Gerd; Albrecht, Beate; Luczak, Klaudiusz; Sasiadek, Maria M.; Musante, Luciana; Laurie, Rohan; Peters, Hartmut; Tartaglia, Marco; Zenker, Martin; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2009-04
Title of Journal: European Journal of Human Genetics
Volume: 17
Issue / Number: 4
Start Page: 420
End Page: 425
Document Type: Article
ID: 411070.1
 
Full text / Content available
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation
Authors: Kalscheuer, Vera M.; Musante, Luciana; Fang, Cheng; Hoffmann, Kirsten; Fuchs, Celine; Carta, Eloisa; Deas, Emma; Venkateswarlu, Kanamarlapudi; Menzel, Corinna; Ullmann, Reinhard; Tommerup, Niels; Dalprà, Leda; Tzschach, Andreas; Selicorni, Angelo; Lüscher, Bernhard; Ropers, Hans-Hilger; Harvey, Kirsten; Harvey, Robert J.
Date of Publication (YYYY-MM-DD): 2009-01
Title of Journal: Human Mutation
Volume: 30
Issue / Number: 1
Start Page: 61
End Page: 68
Document Type: Article
ID: 472570.0
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome
Authors: Kalscheuer, Vera M.; Feenstra, Ilse; Van Ravenswaaij-Arts, Conny M. A.; Smeets, Dominique F.C.M.; Menzel, Corinna; Ullmann, Reinhard; Musante, Luciana; r Ropers, Hans-Hilge
Date of Publication (YYYY-MM-DD): 2008-07-14
Title of Journal: American Journal of Medical : Genetics Part A
Volume: 146 A
Issue / Number: 16
Start Page: 2053
End Page: 2059
Document Type: Article
ID: 408424.0
 
Full text / Content available
Germline KRAS mutations cause Noonan syndrome
Authors: Schubbert, Suzanne; Zenker, Martin; Rowe, Sara L .; Böll, Silke; Klein, Cornelia; Bollag, Gideon; van der Burgt, Ineke; Musante, Luciana; Kalscheuer, Vera M.; Wehner, Lars-Erik; Nguyen, Hoa; West, Brian; Zhang, Kam Y. J.; Sistermans, Erik; Rauch, Anita; Niemeyer, Charlotte M.; Shannon, Kevin; Kratz, Christian P.
Date of Publication (YYYY-MM-DD): 2006-02-12
Title of Journal: Nature Genetics
Volume: 38
Issue / Number: 3
Start Page: 331
End Page: 336
Document Type: Article
ID: 307757.0
 
Full text / Content available
cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2
Authors: Musante, Luciana; Bartsch, Oliver; Ropers, Hans-Hilger; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2004-04-14
Title of Journal: Gene
Volume: 332
Start Page: 119
End Page: 127
Document Type: Article
ID: 225125.0
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
Authors: Kalscheuer, Vera M.; Freude, Kristine; Musante, Luciana; Jensen, Lars R.; Yntema, Helger G.; Gecz, Jozef; Sefiani, Abdelaziz; Hoffmann, Kirsten; Moser, Bettina; Haas, Stefan; Gurok, Ulf; Haesler, Sebastian; Aranda, Beatriz; Nshedjan, Arpik; Tzschach, Andreas; Hartmann, Nils; Roloff, Tim-Christoph; Shoichet, Sarah; Hagens, Olivier; Tao, Jiong; van Bokhoven, Hans; Turner, Gillian; Chelly, Jamel; Moraine, Claude; Fryns, Jean-Pierre; Nuber, Ulrike; Hoeltzenbein, Maria; Scharff, Constance; Scherthan, Harry; Lenzner, Steffen; Hamel, Ben C. J.; Schweiger, Susann; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2003-12
Title of Journal: Nature Genetics
Volume: 35
Issue / Number: 4
Start Page: 313
End Page: 315
Document Type: Article
ID: 127750.0
 
Full text / Content available
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutanesous syndrome
Authors: Musante, Luciana; Kehl, Hans G.; Majewski, Frank; Meinecke, Peter; Schweiger, Susann; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Hinkel, Georg K.; Tinschert, Siegrid; Hoeltzenbein, Maria; Ropers, Hans-Hilger; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2003-02
Title of Journal: European Journal of Human Genetics
Volume: 11
Issue / Number: 2
Start Page: 201
End Page: 206
Document Type: Article
ID: 127778.0
Molecular characterization of Noonan Syndrome
Authors: Musante, Luciana
Name of University: Università degli Studi di Torino
Place of University: Torino, Italy
Date of Approval (YYYY-MM-DD): 2003
Document Type: PhD-Thesis
ID: 194830.0
 
Full text / Content available
Entries: 1-9  
The scope and number of records on eDoc is subject to the collection policies defined by each institute - see "info" button in the collection browse view.