Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation

Por Lew, Erin D., Bae, Jae Hyun, Rohmann, Edyta, Wollnik, Bernd, Schlessinger, Joseph
Publicado em 2007

Activating Somatic FGFR2 Mutations in Breast Cancer

Por Reintjes, Nadine, Li, Yun, Becker, Alexandra, Rohmann, Edyta, Schmutzler, Rita, Wollnik, Bernd
Publicado em 2013

Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit

Por Hatzold, Julia, Beleggia, Filippo, Herzig, Hannah, Altmüller, Janine, Nürnberg, Peter, Bloch, Wilhelm, Wollnik, Bernd, Hammerschmidt, Matthias
Publicado no eLife (2016)

Lacrimo-Auriculo-Dento-Digital Syndrome Is Caused by Reduced Activity of the Fibroblast Growth Factor 10 (FGF10)-FGF Receptor 2 Signaling Pathway

Por Shams, Imad, Rohmann, Edyta, Eswarakumar, Veraragavan P., Lew, Erin D., Yuzawa, Satoru, Wollnik, Bernd, Schlessinger, Joseph, Lax, Irit
Publicado em 2007

The antihistamine fexofenadine does not affect I(Kr) currents in a case report of drug-induced cardiac arrhythmia

Por Scherer, Constanze R, Lerche, Christian, Decher, Niels, Dennis, Adrienne T, Maier, Patrick, Ficker, Eckhard, Busch, Andreas E, Wollnik, Bernd, Steinmeyer, Klaus
Publicado em 2002

Lrp4 Regulates Initiation of Ureteric Budding and Is Crucial for Kidney Formation – A Mouse Model for Cenani-Lenz Syndrome

Por Karner, Courtney M., Dietrich, Martin F., Johnson, Eric B., Kappesser, Natalie, Tennert, Christian, Percin, Ferda, Wollnik, Bernd, Carroll, Thomas J., Herz, Joachim
Publicado em 2010

CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype−phenotype correlation in Turkish children

Por Baş, Firdevs, Kayserili, Hülya, Darendeliler, Feyza, Uyguner, Oya, Günöz, Hülya, Yüksel Apak, Memnune, Atalar, Fatmahan, Bundak, Rüveyde, Wilson, Robert C., New, Maria I., Wollnik, Bernd, Saka, Nurçin
Publicado em 2009

A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

Por Semler, Oliver, Garbes, Lutz, Keupp, Katharina, Swan, Daniel, Zimmermann, Katharina, Becker, Jutta, Iden, Sandra, Wirth, Brunhilde, Eysel, Peer, Koerber, Friederike, Schoenau, Eckhard, Bohlander, Stefan K., Wollnik, Bernd, Netzer, Christian
Publicado em 2012

CRIM1 haploinsufficiency causes defects in eye development in human and mouse

Por Beleggia, Filippo, Li, Yun, Fan, Jieqing, Elciog˘lu, Nursel H., Toker, Ebru, Wieland, Thomas, Maumenee, Irene H., Akarsu, Nurten A., Meitinger, Thomas, Strom, Tim M., Lang, Richard, Wollnik, Bernd
Publicado no Hum Mol Genet (2015)

Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

Por Paznekas, William A., Boyadjiev, Simeon A., Shapiro, Robert E., Daniels, Otto, Wollnik, Bernd, Keegan, Catherine E., Innis, Jeffrey W., Dinulos, Mary Beth, Christian, Cathy, Hannibal, Mark C., Jabs, Ethylin Wang
Publicado em 2003

A large duplication involving the IHH locus mimics acrocallosal syndrome

Por Yuksel-Apak, Memnune, Bögershausen, Nina, Pawlik, Barbara, Li, Yun, Apak, Selcuk, Uyguner, Oya, Milz, Esther, Nürnberg, Gudrun, Karaman, Birsen, Gülgören, Ayan, Grzeschik, Karl-Heinz, Nürnberg, Peter, Kayserili, Hülya, Wollnik, Bernd
Publicado em 2012

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

Por Uz, Elif, Alanay, Yasemin, Aktas, Dilek, Vargel, Ibrahim, Gucer, Safak, Tuncbilek, Gokhan, von Eggeling, Ferdinand, Yilmaz, Engin, Deren, Ozgur, Posorski, Nicole, Ozdag, Hilal, Liehr, Thomas, Balci, Sevim, Alikasifoglu, Mehmet, Wollnik, Bernd, Akarsu, Nurten A.
Publicado em 2010

Mutations in CDK5RAP2 cause Seckel syndrome

Por Yigit, Gökhan, Brown, Karen E, Kayserili, Hülya, Pohl, Esther, Caliebe, Almuth, Zahnleiter, Diana, Rosser, Elisabeth, Bögershausen, Nina, Uyguner, Zehra Oya, Altunoglu, Umut, Nürnberg, Gudrun, Nürnberg, Peter, Rauch, Anita, Li, Yun, Thiel, Christian Thomas, Wollnik, Bernd
Publicado no Mol Genet Genomic Med (2015)

Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss

Por Li, Yun, Pohl, Esther, Boulouiz, Redouane, Schraders, Margit, Nürnberg, Gudrun, Charif, Majida, Admiraal, Ronald J.C., von Ameln, Simon, Baessmann, Ingelore, Kandil, Mostafa, Veltman, Joris A., Nürnberg, Peter, Kubisch, Christian, Barakat, Abdelhamid, Kremer, Hannie, Wollnik, Bernd
Publicado em 2010

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

Por Becker, Jutta, Semler, Oliver, Gilissen, Christian, Li, Yun, Bolz, Hanno Jörn, Giunta, Cecilia, Bergmann, Carsten, Rohrbach, Marianne, Koerber, Friederike, Zimmermann, Katharina, de Vries, Petra, Wirth, Brunhilde, Schoenau, Eckhard, Wollnik, Bernd, Veltman, Joris A., Hoischen, Alexander, Netzer, Christian
Publicado em 2011

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at locus DFNA36-DFNB7/11: Four novel TMC1 mutations

Por Hilgert, Nele, Alasti, Fatemeh, Dieltjens, Nele, Pawlik, Barbara, Wollnik, Bernd, Uyguner, Oya, Delmaghani, Sedigheh, Weil, Dominique, Petit, Christine, Danis, Evi, Yang, Tao, Pandelia, Efthimia, Petersen, Michael B., Goossens, Dirk, Favero, Jurgen Del, Sanati, Mohammad Hossein, Smith, Richard JH, Van Camp, Guy
Publicado no Clin Genet (2008)

Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1

Por Crisponi, Laura, Crisponi, Giangiorgio, Meloni, Alessandra, Toliat, Mohammad Reza, Nürnberg, Gudrun, Usala, Gianluca, Uda, Manuela, Masala, Marco, Höhne, Wolfgang, Becker, Christian, Marongiu, Mara, Chiappe, Francesca, Kleta, Robert, Rauch, Anita, Wollnik, Bernd, Strasser, Friedrich, Reese, Thomas, Jakobs, Cornelis, Kurlemann, Gerd, Cao, Antonio, Nürnberg, Peter, Rutsch, Frank
Publicado em 2007

Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid

Por Laue, Kathrin, Pogoda, Hans-Martin, Daniel, Philip B., van Haeringen, Arie, Alanay, Yasemin, von Ameln, Simon, Rachwalski, Martin, Morgan, Tim, Gray, Mary J., Breuning, Martijn H., Sawyer, Gregory M., Sutherland-Smith, Andrew J., Nikkels, Peter G., Kubisch, Christian, Bloch, Wilhelm, Wollnik, Bernd, Hammerschmidt, Matthias, Robertson, Stephen P.
Publicado em 2011

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

Por Asharani, P.V., Keupp, Katharina, Semler, Oliver, Wang, Wenshen, Li, Yun, Thiele, Holger, Yigit, Gökhan, Pohl, Esther, Becker, Jutta, Frommolt, Peter, Sonntag, Carmen, Altmüller, Janine, Zimmermann, Katharina, Greenspan, Daniel S., Akarsu, Nurten A., Netzer, Christian, Schönau, Eckhard, Wirth, Radu, Hammerschmidt, Matthias, Nürnberg, Peter, Wollnik, Bernd, Carney, Thomas J.
Publicado em 2012

Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

Por Li, Yun, Laue, Kathrin, Temtamy, Samia, Aglan, Mona, Kotan, L. Damla, Yigit, Gökhan, Canan, Husniye, Pawlik, Barbara, Nürnberg, Gudrun, Wakeling, Emma L., Quarrell, Oliver W., Baessmann, Ingelore, Lanktree, Matthew B., Yilmaz, Mustafa, Hegele, Robert A., Amr, Khalda, May, Klaus W., Nürnberg, Peter, Topaloglu, A. Kemal, Hammerschmidt, Matthias, Wollnik, Bernd
Publicado em 2010