Resultats de la cerca

Hypohidrotic and hidrotic ectodermal dysplasia: a report of two cases per Marianne de Vasconcelos Carvalho, José Romero Souto de Sousa, Filipe Paiva Correa de Melo, Tatiane Fonseca Faro, Ana Clara Nunes Santos, Silvia Costa Carvalho, Ana Paula Veras Sobral

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Anhydrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). A case report per Jair Carneiro Leão, Ana Micaeli Costa Ferreira, Valdir Bandeira, Fábia V. Figueirôa, Stephen Porter

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Developmental disorders of the dentition: An update per Ophir D. Klein, Snehlata Oberoi, Ann Huysseune, Mária Hovořáková, M Peterka, Renata Peterková

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Diffuse Gastrointestinal Polyposis with Ectodermal Changes per S. Jarnum, Herluf Jensen

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Conventional Complete Denture in Patients with Ectodermal Dysplasia per Larissa Soares Reis Vilanova, Alfonso Sánchez‐Ayala, Giselle Rodrigues Ribeiro, Camila Heitor Campos, Arcelino Farias‐Neto

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Limb abnormalities on trisomy 18: evidences for early diagnosis per Rafael Fabiano Machado Rosa, na Cardoso Manique Rosa, Marina Boff Lorenzen, Paulo Ricardo Gazzola Zen, Ceres Andréia Vieira de Oliveira, Carla Graziadio, Giorgio Adriano Paskulin

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Molecular basis of hypohidrotic ectodermal dysplasia: an update per Wiesław H. Trzeciak, Ryszard Koczorowski

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Aplasia cutis congenita: approach to evaluation and management per John Browning

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Identification of a New Splice Form of the EDA1 Gene Permits Detection of Nearly All X-Linked Hypohidrotic Ectodermal Dysplasia Mutations per Alex W. Monreal, Jonathan Zonana, Betsy Ferguson

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Ectodermal dysplasias: a new clinical-genetic classification per Manuela Priolo

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A Role for NF-κB Essential Modifier/IκB Kinase-γ (NEMO/IKKγ) Ubiquitination in the Activation of the IκB Kinase Complex by Tumor Necrosis Factor-α per Eric Tang, Cun-Yu Wang, Yue Xiong, Kun‐Liang Guan

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p63α Mutations Lead to Aberrant Splicing of Keratinocyte Growth Factor Receptor in the Hay-Wells Syndrome per Alexey Fomenkov, Yi‐Ping Huang, Özlem Topaloglu, Anna Brechman, Motonobo Osada, T E Fomenkova, Eugene Yuriditsky, Barry Trink, David Sidransky, Edward A. Ratovitski

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Compound Heterozygous Desmoplakin Mutations Result in a Phenotype with a Combination of Myocardial, Skin, Hair, and Enamel Abnormalities per Mỹ G. Mahoney, Sara Sadowski, Donna Brennan, Pekka Pikander, Pekka Saukko, James K. Wahl, Heikki Aho, Kristiina Heikinheimo, Leena Bruckner‐Tuderman, Andrzej Fertala, Juha Peltonen, Jouni Uitto, Sirkku Peltonen

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Orofacial Features of Hypohidrotic Ectodermal Dysplasia per Sibele Nascimento de Aquino, Lívia Máris Ribeiro Paranaíba, Mário Sérgio Oliveira Swerts, Daniella Reis Barbosa Martelli, Letízia Monteiro de Barros, Hercílio Martelli Júnior

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Role of TRAF3 and -6 in the Activation of the NF-κB and JNK Pathways by X-linked Ectodermal Dysplasia Receptor per Suwan K. Sinha, Sunny Zachariah, Herson I. Quiñones, Masahisa Shindo, Preet M. Chaudhary

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p63 in Skin Development and Ectodermal Dysplasias per Maranke I. Koster

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New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein per Marjorie Hubeau, Flora Ngadjeua, Anne Puel, Laura Israël, Jacqueline Feinberg, Maya Chrabieh, Kiran Belani, Christine Bodemer, Isabelle Fabre, Alessandro Plebani, Stéphanie Boisson‐Dupuis, Capucine Pïcard, Alain Fischer, Alain Israël, Laurent Abel, Michel Véron, Jean‐Laurent Casanova, Fabrice Agou, Jacinta Bustamante

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Congenital deformity of the paw in a captive tiger: case report per Sheila Canevese Rahal, Reinaldo S Volpi, Carlos Roberto Teixeira, Vania MV Machado, Guilherme DP Soares, Carlos Neto, Kathleen Linn

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SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice per Ippei Okada, Haruka Hamanoue, Koji Terada, Takaya Tohma, André Mégarbané, Éliane Chouery, Joelle Abou‐Ghoch, Nadine Jalkh, Özgür Çoğulu, Ferda Özkınay, Kyoji Horie, Junji Takeda, Tatsuya Furuichi, Shiro Ikegawa, Kiyomi Nishiyama, Satoko Miyatake, Akira Nishimura, Takeshi Mizuguchi, Norio Niikawa, Fumiki Hirahara, Tadashi Kaname, Koh-ichiro Yoshiura, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Takahisa Furukawa, Naomichi Matsumoto, Hirotomo Saitsu

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A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia per Bárbara Rivera, José Perea, Eduardo Vilar Sanchez, Manuel Villapun, E. Sánchez-Tomé, Fátima Mercadillo, Mercedes Robledo, Javier Benı́tez, Miguel Urioste

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