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: 1-10  
 Basket 
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Authors: Kim, Hyung-Goo; Ahn, Jang-Won; Kurth, Ingo; Ullmann, Reinhard; Kim, Hyun-Taek; Kulharya, Anita; Ha, Kyung-Soo; Itokawa, Yasuhide; Meliciani, Irene; Wolfgang Wenzel, Wolfgang Wenzel; Lee, Deresa; Rosenberger, Georg; Ozata, Metin; Bick, David P.; Sherins, Richard J.; Nagase, Takahiro; Tekin, Mustafa; Kim, Soo-Hyun; Kim, Cheol-Hee; Ropers, Hans-Hilger; Gusella, James F.; Kalscheuer, Vera M.; Choi, Cheol Yong; Layman, Lawrence C.
Date of Publication (YYYY-MM-DD): 2010-10-08
Title of Journal: American Society of Human Genetics
Volume: 87
Issue / Number: 4
Start Page: 465
End Page: 479
Document Type: Article
ID: 533112.0
 
Full text / Content available
TRPV1 acts as a synaptic protein and regulates vesicle recycling.
Authors: Goswami, Chandan; Rademacher, Nils; Smalla, Karl-Heinz; Kalscheuer, Vera M.; Ropers, Hans-Hilger; Gundelfinger, Eckart D.; Hucho, Tim
Date of Publication (YYYY-MM-DD): 2010-05-18
Title of Journal: Journal of Cell Science
Volume: 123
Issue / Number: 12
Start Page: 2045
End Page: 2057
Document Type: Article
ID: 532615.0
 
Full text / Content available
Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.
Authors: Hu, Hao; Wrogemann, Klaus; Kalscheuer, Vera M.; Tzschach, Andreas; Richard, Hugues; Haas, Stefan A.; Menzel, Corinna; Bienek, Melanie; Froyen, Guy; Raynaud, Martine; Van Bokhoven, Hans; Chelly, Jamel; Ropers, Hans-Hilger; Chen, Wei
Date of Publication (YYYY-MM-DD): 2010-04-11
Title of Journal: The Hugo Journal
Volume: 3
Issue / Number: 1-4
Start Page: 83
End Page: 83
Document Type: Article
ID: 533090.0
 
Full text / Content available
Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement.
Authors: Tzschach, Andreas; Menzel, Corinna; Erdogan, Fikret; Istifli, Erman Salih; Rieger, Martin; Ovens-Raeder, Angela; Macke, Alfons; Ropers, Hans-Hilger; Ullmann, Reinhard; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2010-03-26
Title of Journal: American Journal of Medical Genetics. Part A.
Volume: 152A
Issue / Number: 4
Start Page: 1008
End Page: 1012
Document Type: Article
ID: 536095.0
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.
Authors: Tzschach, Andreas; Bisgaard, Anne-Marie; Kirchhoff, Maria; Graul-Neumann, Luitgard M.; Neitzel, Heidemarie; Page, Stephanie; Ahmed, Alischo; Müller, Ines; Erdogan, Fikret; Ropers, Hans-Hilger; Kalscheuer, Vera M.; Ullmann, Reinhard
Date of Publication (YYYY-MM-DD): 2010-03-01
Title of Journal: European Journal of Human Genetics : EJHG
Volume: 18
Issue / Number: 3
Start Page: 291
End Page: 295
Document Type: Article
ID: 536097.0
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
Authors: Giannandrea, Maila; Bianchi, Veronica; Mignogna, Maria Lidia; Sirri, Alessandra; Carrabino, Salvatore; D'Elia, Errico; Vecellio, Matteo; Russo, Silvia; Cogliati, Francesca; Larizza, Lidia; Ropers, Hans-Hilger; Tzschach, Andreas; Kalscheuer, Vera M.; Oehl-Jaschkowitz, Barbara; Schwartz, Charles E.; Gecz, Jozef; Van Esch, Hilde; Raynaud, Martine; Chelly, Jamel; de Brouwer, Arjan P.M.; Toniolo, Daniela; D'Adamo, Patrizia
Date of Publication (YYYY-MM-DD): 2010-02-12
Title of Journal: The American Journal of Human Genetics
Volume: 86
Issue / Number: 2
Start Page: 185
End Page: 195
Document Type: Article
ID: 532611.0
 
Full text / Content available
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
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing
Authors: Chen, Wei; Ullmann, Reinhard; Langnick, Claudia; Menzel, Corinna; Wotschofsky, Zofia; Hu, Hao; Döring, Andreas; Hu, Yuhui; Kang, Hui; Tzschach, Andreas; Hoeltzenbein, Maria; Neitzel, Heidemarie; Markus, Susanne; Wiedersberg, Eberhard; Kistner, Gerd; van Ravenswaaij-Arts, Conny M. A.; Kleefstra, Tjitske; Kalscheuer, Vera M.; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2010
Title of Journal: European Journal of Human Genetics
Document Type: Article
ID: 469015.0
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
Entries: 1-10  
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.