Results 121 to 130 of about 3,476 (222)

Novel EDA mutation in X‐linked hypohidrotic ectodermal dysplasia and genotype–phenotype correlation [PDF]

, 2015
Binghui Zeng, Hui Lu, Xin Xiao, Lin Zhou, Jinglin Lu, Ling Zhu, Dongsheng Yu, Wei Zhao   +7 more
openalex   +1 more source

Agenesias dentarias: en busca de las alteraciones genéticas responsables de la falta de desarrollo [PDF]

, 2004
En conjunto, las agenesias dentarias son la malformación cráneofacial más frecuente. Su prevalencia alcanza el 20% en la dentición permanente, y su expresión puede variar desde la ausencia de una sola pieza, generalmente un tercer molar, hasta la de toda
Kolenc Fusé, Francisco Javier
core  

A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia

, 2011
Javier Cañueto, M.I. Zafra-Cobo, S. Ciria, P. Unamuno, Rogelio González‐Sarmiento   +4 more
openalex   +1 more source

X‐linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation [PDF]

, 2019
Tatiana Cherevatova, O. A. Schagina, V Freire, Nina Demina, Alexandra Filatova, Mikhail Skoblov, A. A. Stepanova, Alena Chuhrova, A. V. Polyakov   +8 more
openalex   +1 more source

A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor-binding capability. [PDF]

Mol Genet Genomic Med, 2023
Liu X, Zhao Y, Zhu J.
europepmc   +1 more source

A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs. [PDF]

, 1975
N. Freire‐Maia, V A Fortes, L C Pereira, John M. Opitz, F A Marcalle, Iglenir João Cavalli   +5 more
openalex   +1 more source

Hypohidrotic ectodermal dysplasia: A case report with review and latest updates. [PDF]

J Oral Maxillofac Pathol, 2022
Bagdey SP, Moharil RB, Dive A, Bodhade A.   +3 more
europepmc   +1 more source

Дентальні маркери дерматологічних захворювань [PDF]

, 2010
Кожные болезни могут быть связаны с широким разнообразием стоматологических проявлений, которые должны быть знакомы и дерматологам, и стоматологам. Стоматологические проявления связаны с широким спектром заболеваний кожи, которые включают генетические ...
Галникіна, С.О., Стасюк, М.Б.   +1 more
core  

A Rare Case of Hypohidrotic Ectodermal Dysplasia in a Seven-Year-Old Child. [PDF]

Cureus, 2022
Shah SAY, Hassan WU, Sajjad W, Shabbir UB, Raza A.   +4 more
europepmc   +1 more source

A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement. [PDF]

Int J Mol Sci, 2023
Schneider H, Schweikl C, Faschingbauer F, Hadj-Rabia S, Schneider P.   +4 more
europepmc   +1 more source