Annular Epidermolytic Ichthyosis Mimicking Greither Disease: A Case Report and Literature Review

por Almuqarrab, Fatimah J., Alakloby, Omar Mohammed, Alqahtani, Jamal Mohammed, Hennies, Hans Christian
Publicado 2022

Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients

por Sathishkumar, Dharshini, Peter, Dincy, Pulimood, Susanne, Wiegmann, Henning, Valentin, Frederic, Thomas, Meera, Hennies, Hans Christian, Oji, Vinzenz
Publicado 2018

Long-term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model and insights from proteomic studies

por Aufenvenne, Karin, Rice, Robert H., Hausser, Ingrid, Oji, Vinzenz, Hennies, Hans Christian, Rio, Marcela Del, Traupe, Heiko, Larcher, Fernando
Publicado 2012

Filaggrin gene variants among Saudi patients with ichthyosis vulgaris

por Alakloby, Omar Mohammed, Almuqarrab, Fatimah, Zschocke, Johannes, Schmuth, Mathias, Abdulkareem, Adnan, Alnutaifi, Kholood, Borgio, Francis, Gruber, Robert, Hennies, Hans Christian
Publicado 2023

Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V

por Eckl, Katja M., Gruber, Robert, Brennan, Louise, Marriott, Andrew, Plank, Roswitha, Moosbrugger-Martinz, Verena, Blunder, Stefan, Schossig, Anna, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Zschocke, Johannes, Hennies, Hans Christian, Schmuth, Matthias
Publicado 2021

Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Ass...

por Becker, Kerstin, Siegert, Sabine, Toliat, Mohammad Reza, Du, Juanjiangmeng, Casper, Ramona, Dolmans, Guido H., Werker, Paul M., Tinschert, Sigrid, Franke, Andre, Gieger, Christian, Strauch, Konstantin, Nothnagel, Michael, Nürnberg, Peter, Hennies, Hans Christian
Publicado 2016

Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling

por KIM, Mi-Ran, OJI, Vinzenz, VALENTIN, Frederic, TRAUPE, Heiko, NOFER, Jerzy-Roch, HAUSSER, Ingrid, HENNIES, Hans Christian, ECKL, Katja, WUDY, Stefan A., SÁNCHEZ-GUIJO, Alberto, KERSCHKE, Laura, FISCHER, Judith, SÜßMUTH, Kira
Publicado 2021

A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis

por Ng, Michael, Thakkar, Dipti, Southam, Lorraine, Werker, Paul, Ophoff, Roel, Becker, Kerstin, Nothnagel, Michael, Franke, Andre, Nürnberg, Peter, Espirito-Santo, Ana Isabel, Izadi, David, Hennies, Hans Christian, Nanchahal, Jagdeep, Zeggini, Eleftheria, Furniss, Dominic
Publicado 2017

Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A)

por Brauer, Nina, Maruta, Yuto, Lisci, Miriam, Strege, Katharina, Oschlies, Ilske, Nakamura, Hikari, Böhm, Svea, Lehmberg, Kai, Brandhoff, Leon, Ehl, Stephan, Parvaneh, Nima, Klapper, Wolfram, Fukuda, Mitsunori, Griffiths, Gillian M., Hennies, Hans Christian, Niehues, Tim, Ammann, Sandra
Publicado 2023

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan

por Lima Cunha, Dulce, Alakloby, Omar Mohammed, Gruber, Robert, Kakar, Naseebullah, Ahmad, Jamil, Alawbathani, Salem, Plank, Roswitha, Eckl, Katja, Krabichler, Birgit, Altmüller, Janine, Nürnberg, Peter, Zschocke, Johannes, Borck, Guntram, Schmuth, Matthias, Alabdulkareem, Adnan S., Abdulaziz Alnutaifi, Kholood, Hennies, Hans Christian
Publicado 2019

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

por Kapferer-Seebacher, Ines, Pepin, Melanie, Werner, Roland, Aitman, Timothy J., Nordgren, Ann, Stoiber, Heribert, Thielens, Nicole, Gaboriaud, Christine, Amberger, Albert, Schossig, Anna, Gruber, Robert, Giunta, Cecilia, Bamshad, Michael, Björck, Erik, Chen, Christina, Chitayat, David, Dorschner, Michael, Schmitt-Egenolf, Marcus, Hale, Christopher J., Hanna, David, Hennies, Hans Christian, Heiss-Kisielewsky, Irene, Lindstrand, Anna, Lundberg, Pernilla, Mitchell, Anna L., Nickerson, Deborah A., Reinstein, Eyal, Rohrbach, Marianne, Romani, Nikolaus, Schmuth, Matthias, Silver, Rachel, Taylan, Fulya, Vandersteen, Anthony, Vandrovcova, Jana, Weerakkody, Ruwan, Yang, Margaret, Pope, F. Michael, Byers, Peter H., Zschocke, Johannes
Publicado 2016