Results 181 to 190 of about 19,360 (251)

A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family. [PDF]

Genet Res (Camb), 2023
Ali G, Sadia S, Ain-Ul-Batool S, Azeem Z, Awan NB, Kazmi SAR, Ur-Rehman Z, Anjum Z, Ur-Rehman F, Wali A, Khan K, Zaman N, Ayub M, Sajid M, Hassan N.   +14 more
europepmc   +1 more source

Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome [PDF]

, 2010
Francesco Brancati, Paola Fortugno, Irene Bottillo, Marc Lopez, Emmanuelle Josselin, O Boudghène-Stambouli, Emanuele Agolini, Laura Bernardini, Emanuele Bellacchio, Miriam Iannicelli, Alfredo Rossi, A. Dib-Lachachi, Liborio Stuppia, Giandomenico Palka, Stefan Mundlos, Sigmar Stricker, Uwe Kornak, Giovanna Zambruno, Bruno Dallapiccola   +18 more
openalex   +1 more source

[Research progress on the diagnosis of ectodermal dysplasia and early oral prosthodontic treatment]. [PDF]

Hua Xi Kou Qiang Yi Xue Za Zhi
Lin L, Li P, Zhao W.
europepmc   +1 more source

A Point Mutation in NEMO Associated with Anhidrotic Ectodermal Dysplasia with Immunodeficiency Pathology Results in Destabilization of the Oligomer and Reduces Lipopolysaccharide- and Tumor Necrosis Factor-mediated NF-κB Activation [PDF]

, 2005
Emilie Vinolo, Hélène Sebban, Alain Chaffotte, Alain Israël, Gilles Courtois, Michel Véron, Fabrice Agou   +6 more
openalex   +1 more source

The Prosthetic management of a hypohidrotic ectodermal dysplasia patient a case report

, 1992
James M. Hori
openalex   +1 more source

A Novel Locus of Ectodermal Dysplasia Maps to Chromosome 10q24.32–q25.1 [PDF]

, 2005
Muhammad Rafiq, Mohammad Faiyaz-Ul-Haque, Mohammad Amin ud Din, Sajid Malik, Muhammad Sohail, Maqsood Anwar, Sayedul Haque, Andrew D. Paterson, Lap‐Chee Tsui, Wasim Ahmad   +9 more
openalex   +1 more source

Lichen Planopilaris with Pili Torti and Ectodermal Dysplasia: A Hair Curling Case Report. [PDF]

Case Rep Dermatol
Langley C, Plakotaris E, Rogers NE.
europepmc   +1 more source

Dental Implants as a Treatment Option for Prosthetic Rehabilitation of Children with Ectodermal Dysplasia: A Systematic Review. [PDF]

Int J Clin Pediatr Dent
Barve KD, Padawe DS, Takate VS.
europepmc   +1 more source

Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus. [PDF]

Orphanet J Rare Dis
Schneider H, Schneider M, Lia M, Grange DK, Hadj-Rabia S, Clarke A, Fete M, Jaulent A, Guiraud M, Odibo A, Faschingbauer F.   +10 more
europepmc   +1 more source

EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia. [PDF]

Genes (Basel)
Rietmann SJ, Cochet-Faivre N, Dropsy H, Jagannathan V, Chevallier L, Leeb T.   +5 more
europepmc   +1 more source