Results
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Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2. [electronic resource] by
- Schlaweck, Annika E
- Tazi-Ahnini, Rachid
- Ü Basmanav, F Buket
- Mohungoo, Javed
- Pasternack-Ziach, Sandra M
- Mattheisen, Manuel
- Oprisoreanu, Ana-Maria
- Humbatova, Aytaj
- Wolf, Sabrina
- Messenger, Andrew
- Betz, Regina C
Producer: 20200330
In:
PloS one vol. 14
Availability: No items available.
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Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study. [electronic resource] by
- Redler, Silke
- Basmanav, F Buket Ü
- Blaumeiser, Bettina
- Bartels, Natalie Garcia
- Lutz, Gerhard
- Tafazzoli, Aylar
- Kruse, Roland
- Wolff, Hans
- Böhm, Markus
- Blume-Peytavi, Ulrike
- Becker, Tim
- Nöthen, Markus M
- Betz, Regina C
Producer: 20180416
In:
Acta dermato-venereologica vol. 97
Availability: No items available.
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Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients. [electronic resource] by
- Mühleisen, Thomas W
- Basmanav, F Buket
- Forstner, Andreas J
- Mattheisen, Manuel
- Priebe, Lutz
- Herms, Stefan
- Breuer, Rene
- Moebus, Susanne
- Nenadic, Igor
- Sauer, Heinrich
- Mössner, Rainald
- Maier, Wolfgang
- Rujescu, Dan
- Ludwig, Michael
- Rietschel, Marcella
- Nöthen, Markus M
- Cichon, Sven
Producer: 20110701
In:
Schizophrenia research vol. 127
Availability: No items available.
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Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. [electronic resource] by
- Ralser, Damian J
- Basmanav, F Buket Ü
- Tafazzoli, Aylar
- Wititsuwannakul, Jade
- Delker, Sarah
- Danda, Sumita
- Thiele, Holger
- Wolf, Sabrina
- Busch, Michélle
- Pulimood, Susanne A
- Altmüller, Janine
- Nürnberg, Peter
- Lacombe, Didier
- Hillen, Uwe
- Wenzel, Jörg
- Frank, Jorge
- Odermatt, Benjamin
- Betz, Regina C
Producer: 20170912
In:
The Journal of clinical investigation vol. 127
Availability: No items available.
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Investigation of the role of TCF4 rare sequence variants in schizophrenia. [electronic resource] by
- Basmanav, F Buket
- Forstner, Andreas J
- Fier, Heide
- Herms, Stefan
- Meier, Sandra
- Degenhardt, Franziska
- Hoffmann, Per
- Barth, Sandra
- Fricker, Nadine
- Strohmaier, Jana
- Witt, Stephanie H
- Ludwig, Michael
- Schmael, Christine
- Moebus, Susanne
- Maier, Wolfgang
- Mössner, Rainald
- Rujescu, Dan
- Rietschel, Marcella
- Lange, Christoph
- Nöthen, Markus M
- Cichon, Sven
Producer: 20160311
In:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 168B
Availability: No items available.
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7.
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Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. [electronic resource] by
- Basmanav, F Buket
- Oprisoreanu, Ana-Maria
- Pasternack, Sandra M
- Thiele, Holger
- Fritz, Günter
- Wenzel, Jörg
- Größer, Leopold
- Wehner, Maria
- Wolf, Sabrina
- Fagerberg, Christina
- Bygum, Anette
- Altmüller, Janine
- Rütten, Arno
- Parmentier, Laurent
- El Shabrawi-Caelen, Laila
- Hafner, Christian
- Nürnberg, Peter
- Kruse, Roland
- Schoch, Susanne
- Hanneken, Sandra
- Betz, Regina C
Producer: 20140224
In:
American journal of human genetics vol. 94
Availability: No items available.
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Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2. [electronic resource] by
- Fischer, Johannes
- Degenhardt, Franziska
- Hofmann, Andrea
- Redler, Silke
- Basmanav, F Buket
- Heilmann-Heimbach, Stefanie
- Hanneken, Sandra
- Giehl, Kathrin A
- Wolff, Hans
- Moebus, Susanne
- Kruse, Roland
- Lutz, Gerhard
- Blaumeiser, Bettina
- Böhm, Markus
- Garcia Bartels, Natalie
- Blume-Peytavi, Ulrike
- Petukhova, Lynn
- Christiano, Angela M
- Nöthen, Markus M
- Betz, Regina C
Producer: 20180509
In:
Experimental dermatology vol. 26
Availability: No items available.
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9.
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Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis. [electronic resource] by
- Ralser, Damian J
- Takeuchi, Hideyuki
- Fritz, Günter
- Basmanav, F Buket
- Effern, Maike
- Sivalingam, Sugirthan
- El-Shabrawi-Caelen, Laila
- Degirmentepe, Ece N
- Kocatürk, Emek
- Singh, Manuraj
- Booken, Nina
- Spierings, Natalia M K
- Schnabel, Viktor
- Heineke, Andre
- Knuever, Jana
- Wolf, Sabrina
- Wehner, Maria
- Tronnier, Michael
- Leverkus, Martin
- Tantcheva-Poór, Iliana
- Wenzel, Jörg
- Oji, Vinzenz
- Has, Cristina
- Hölzel, Michael
- Frank, Jorge
- Haltiwanger, Robert S
- Betz, Regina C
Producer: 20200402
In:
The Journal of investigative dermatology vol. 139
Availability: No items available.
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10.
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Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. [electronic resource] by
- Ü Basmanav, F Buket
- Cau, Laura
- Tafazzoli, Aylar
- Méchin, Marie-Claire
- Wolf, Sabrina
- Romano, Maria Teresa
- Valentin, Frederic
- Wiegmann, Henning
- Huchenq, Anne
- Kandil, Rima
- Garcia Bartels, Natalie
- Kilic, Arzu
- George, Susannah
- Ralser, Damian J
- Bergner, Stefan
- Ferguson, David J P
- Oprisoreanu, Ana-Maria
- Wehner, Maria
- Thiele, Holger
- Altmüller, Janine
- Nürnberg, Peter
- Swan, Daniel
- Houniet, Darren
- Büchner, Aline
- Weibel, Lisa
- Wagner, Nicola
- Grimalt, Ramon
- Bygum, Anette
- Serre, Guy
- Blume-Peytavi, Ulrike
- Sprecher, Eli
- Schoch, Susanne
- Oji, Vinzenz
- Hamm, Henning
- Farrant, Paul
- Simon, Michel
- Betz, Regina C
Producer: 20170523
In:
American journal of human genetics vol. 99
Availability: No items available.
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