Works matching DE "ECTODERMAL dysplasia"

Results: 1386

Ankyloblepharon–Ectodermal Defects–Cleft Lip/Palate Syndrome-Linked p63 Mutations Disrupt Keratinocyte Proliferation and Survival Through Oxidative Stress and Impaired Slc7a11 Expression.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5231, doi. 10.3390/ijms26115231

By:

Di Girolamo, Daniela;
Palumbo, Sara;
Antonini, Dario;
D'Auria, Ludovica;
Cerbone, Vincenza;
Porcelli, Tommaso;
Cavallo, Federica;
Calautti, Enzo;
Riganti, Chiara;
Missero, Caterina

Publication type:

Article

Novel familial KDF1 mutation detected in members of a three-generation family with clinical manifestations of ectodermal dysplasia: A report of four cases.

Published in:

2025

By:

Keramida, Christina;
Efstathiadou, Chrisoula;
Siomou, Elisavet;
Papageorgiou, Elena;
Pavlidou, Efterpi;
Sotiriou, Sotirios;
Charitou, Antonia;
Eleftheriades, Makarios;
Nikas, Georgios;
Anastasopoulos, Panagiotis;
Manolakos, Emmanouil;
Papoulidis, Ioannis

Publication type:

Case Study

Mosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features.

Published in:

Pediatric Dermatology, 2025, v. 42, n. 3, p. 591, doi. 10.1111/pde.15820

By:

Hanna, Hyvönen;
Kaisa, Kettunen;
Kristiina, Avela;
Sirpa, Kivirikko;
Leila, Jeskanen;
Sinikka, Suominen;
Päivi, Salminen;
Katariina, Hannula‐Jouppi

Publication type:

Article

Facial Sebaceous Hyperplasia in an Adolescent With Hypohidrotic Ectodermal Dysplasia.

Published in:

Pediatric Dermatology, 2025, v. 42, n. 3, p. 655, doi. 10.1111/pde.15751

By:

Pinto‐Pulido, Elena Lucía;
Noguera‐Morel, Lucero;
Colmenero, Isabel;
Torrelo, Antonio;
Hernández‐Martín, Ángela

Publication type:

Article

A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project.

Published in:

Genes, 2025, v. 16, n. 5, p. 522, doi. 10.3390/genes16050522

By:

Steiner, Carlos Eduardo;
Puzzi, Maria Beatriz;
Marques-de-Faria, Antonia Paula;
de Oliveira Sobrinho, Ruy Pires;
Gil-da-Silva-Lopes, Vera Lúcia;
Moreno, Carolina Araújo

Publication type:

Article

Expanding the Mutational Spectrum of TSPEAR in Ectodermal Dysplasia Type 14: A Familial Case Study.

Published in:

2025

By:

Sirica, Roberto;
Ottaiano, Alessandro;
Brasi, Daniele De;
Marcella, Simone;
Acquaviva, Fabio;
Ianniello, Monica;
Petrillo, Nadia;
De Angelis, Valentina;
Ruggiero, Raffaella;
D'Angelo, Rossana;
Evangelista, Eloisa;
Fico, Antonio;
Savarese, Giovanni

Publication type:

Case Study

Bullous aplasia cutis congenita - a report of two cases and brief review of the literature.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2019, v. 76, n. 3, p. 345, doi. 10.2298/VSP170201076P

By:

Prćić, Sonja;
Matić, Aleksandra;
Jablanović, Sladjana;
Matić, Milan;
Gajinov, Zorica;
Stašuk, Nataša

Publication type:

Article

Ectodermal dysplasia -- Maxillary and mandibular alveolar reconstruction with dental rehabilitation: A case report and review of the literature.

Published in:

2010

By:

Deshpande, Sanjeev N.;
Kumar, Vikas

Publication type:

Case Study

Aplasia cutis congenita: A report.

Published in:

2018

By:

Sun, H. İbrahim;
Aras, F. Kaan;
Anarat, Can;
Güdük, Mustafa;
Sun, H Ibrahim

Publication type:

Case Study

Facial Morphological Changes Following Denture Treatment in Children with Hypohidrotic Ectodermal Dysplasia.

Published in:

Pediatric Dentistry, 2020, v. 42, n. 4, p. 315

By:

Ding, Meili;
Yi Fan;
Man Qin;
Claes, Peter;
Matthews, Harold;
Hailong Peng;
Yijiao Zhao;
Junxia Zhu

Publication type:

Article

Parental Perceptions of Prosthetic Treatment for and Coping Abilities of Children with Ectodermal Dysplasia: A Pilot Study.

Published in:

Pediatric Dentistry, 2018, v. 40, n. 7, p. 449

By:

Blumer, Sigalit;
Bogachek-Halfon, Lilach;
Peretz, Benjamin;
Shpack, Nir;
Nissan, Sagit

Publication type:

Article

Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling.

Published in:

Osteoporosis International, 2025, v. 36, n. 3, p. 555, doi. 10.1007/s00198-024-07382-0

By:

Ovejero, Diana;
Garcia-Giralt, Natalia;
Patiño-Salazar, Juan David;
Rabionet, Raquel;
Nogués, Xavier

Publication type:

Article

Clinical and Endoscopic Characteristics of Chinese Cronkhite-Canada Syndrome Patients: A Retrospective Study of 103 Cases.

Published in:

Digestive Diseases, 2021, v. 39, n. 5, p. 488, doi. 10.1159/000514354

By:

Lu, Yuanyuan;
Huang, Fengxing;
Wang, Youwei;
Zhou, Juan;
Zhao, Qiu;
Liu, Lan

Publication type:

Article

Manhole Cover Technique: A Novel Modification for Nail Matrix Biopsy.

Published in:

2021

By:

Bhatia, Saurabh;
Mehta, Nikhil;
Gupta, Somesh

Publication type:

Letter

Immunodeficiency: Natural killers need NEMO.

Published in:

Nature Reviews Immunology, 2002, v. 2, n. 7, p. 463, doi. 10.1038/nri851

By:

Bell, Jennifer

Publication type:

Article

Anaesthesia recommendations for: Oculo-ectodermal syndrome.

Published in:

Anaesthesiologie & Intensivmedizin, 2023, v. 64, n. 6, p. 1

By:

Guímaro, Joana

Publication type:

Article

Oro-dental and Radiographic Findings of Weyers Acrofacial Dysostosis: Report of a Rare Case.

Published in:

Bezmialem Science, 2020, v. 8, n. 1, p. 89, doi. 10.14235/bas.galenos.2019.3152

By:

ÖZ, Esra;
KIRZIOĞLU, Zuhal

Publication type:

Article

Living with X-linked hypohidrotic ectodermal dysplasia.

Published in:

Journal of Community Nursing, 2005, v. 19, n. 11, p. 26

By:

Perry, Diana

Publication type:

Article

Ectodermal dysplasia: a rare entity featuring complete anodontia: Case report and review of literature with a note on genetics.

Published in:

2017

By:

Kamath, Jasmine Shanthi;
Kini, Raghavendra;
Naik, Vathsala

Publication type:

Case Study

Shank-associated RH domain-interacting protein expression is upregulated in entodermal and mesodermal cancer or downregulated in ectodermal malignancy.

Published in:

Oncology Letters, 2018, v. 16, n. 6, p. 7180, doi. 10.3892/ol.2018.9514

By:

Liang, Yanhua;
Chen, Biao;
Liu, Fen;
Wang, Jiaman;
Yang, Yao;
Zheng, Yan;
Tan, Shicui

Publication type:

Article

CONGENITAL ECTODERMAL DYSPLASIA OF THE FACE.

Published in:

British Journal of Dermatology, 1971, v. 84, n. 5, p. 410, doi. 10.1111/j.1365-2133.1971.tb02524.x

By:

Jensen, N. E.

Publication type:

Article

ECTODERMAL DYSPLASIAS IN CATTLE.

Published in:

British Journal of Dermatology, 1971, v. 84, n. 3, p. 258, doi. 10.1111/j.1365-2133.1971.tb14216.x

By:

Selmanowitz, Victor J.

Publication type:

Article

HYPOHIDROTIC (OR ANHIDROTIC) ECTODERMAL DYSPLASIA-AN APPRAISAL OF DIAGNOSTIC METHODS.

Published in:

British Journal of Dermatology, 1970, v. 83, n. 3, p. 341, doi. 10.1111/j.1365-2133.1970.tb15713.x

By:

Verbov, Julian

Publication type:

Article

Congenital Ectodermal Defect with Nail Dystrophy and Resorption of Terminal Phalanges.

Published in:: 1970
Publication type:: Proceeding

\HEREDITARY ECTODERMAL DYSPLASIA.

Published in:

British Journal of Dermatology, 1962, v. 74, n. 1, p. 34, doi. 10.1111/j.1365-2133.1962.tb13909.x

By:

Singh, Amarjit;
Jolly, S. S.;
Kaur, Surrinder

Publication type:

Article

CURRENT LITERATURE.

Published in:

1960

By:

J. H. T. D.;
R. J. C.;
A. D. P.;
J. K.;
J. M. B.

Publication type:

Bibliography

ATRICHIA WITH PAPULAR LESIONS ; A VARIANT OF CONGENITAL ECTODERMAL DYSPLASIA.

Published in:

British Journal of Dermatology, 1955, v. 67, n. 7, p. 271

By:

J. F. S.

Publication type:

Article

Congenital Ectodermal Defect.

Published in:

British Journal of Dermatology, 1955, v. 67, n. 1, p. 25

By:

Sanderson, K. V.

Publication type:

Article

CURRENT LITERATURE.

Published in:: 1951
Publication type:: Abstract

EEM syndrome: report of a family and results of a ten-year follow-up.

Published in:

Ophthalmic Genetics, 1999, v. 20, n. 2, p. 95, doi. 10.1076/opge.20.2.95.2290

By:

Balarin Silva, Valdir;
Simões, Andréa Mara;
Marques-de-Faria, Antonia Paula

Publication type:

Article

Ectodermal Dysplasia: Association with Anti-Basement Membrane Autoantibodies.

Published in:

2020

By:

Lucero Saá, Francisco;
Cremona, Federico Andrés;
Mínguez, Natalia Ximena;
Rinaudo, Carina Paola;
Chiaradía, Pablo

Publication type:

journal article

Hypohidrotic Ectodermal Dysplasia: A Multidisciplinary Approach.

Published in:

International Journal of Psychiatry in Medicine, 2012, v. 44, n. 3, p. 225, doi. 10.2190/PM.44.3.d

By:

Bildik, Tezan;
Ozbaran, Burcu;
Kose, Sezen;
Koturoglu, Guldane;
Gokce, Bulent;
Gunaydin, Asli;
Altintas, Inci

Publication type:

Article

Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency.

Published in:

Bone Marrow Transplantation, 2009, v. 43, n. 3, p. 217, doi. 10.1038/bmt.2008.308

By:

Fish, J. D.;
Duerst, R. E.;
Gelfand, E. W.;
Orange, J. S.;
Bunin, N.

Publication type:

Article

Ectodermal dysplasia and hypodontia.

Published in:: British Dental Journal, 2012, v. 212, n. 11, p. 523, doi. 10.1038/sj.bdj.2012.481
Publication type:: Article

Salivary gland function in persons with ectodermal dysplasias.

Published in:

2004

By:

H., Nordgarden;
K., Storhuag

Publication type:

Abstract

A case of dermatopathia pigmentosa reticularis masquerading as dyskeratosis congenita: the importance of nailing the correct diagnosis.

Published in:

Clinical & Experimental Dermatology, 2025, v. 50, n. 1, p. 246, doi. 10.1093/ced/llae310

By:

Le, Quynh;
Fevre, Anna Le;
Tan, Tiong Yang;
Robertson, Susan

Publication type:

Article

Hypohidrotic ectodermal dysplasia in a family: expanding spectrum of LEF1-related disorders.

Published in:

Clinical & Experimental Dermatology, 2024, v. 49, n. 12, p. 1725, doi. 10.1093/ced/llae293

By:

Hassan, Ali;
Morice-Picard, Fanny;
Marin, Victor;
Robine, Eulalie Lasseaux;
Lebreton, Louis;
Davaze-Schneider, Julie

Publication type:

Article

Bony side-effects in acitretin treatment: is monitoring required?

Published in:

Clinical & Experimental Dermatology, 2024, v. 49, n. 12, p. 1693, doi. 10.1093/ced/llae266

By:

Chung, Jenny G;
Hussain, Khawar

Publication type:

Article

X-linked dominant erythropoietic protoporphyria with early-onset manifestations caused by a hemizygous ALAS2 variant.

Published in:

Clinical & Experimental Dermatology, 2024, v. 49, n. 12, p. 1760, doi. 10.1093/ced/llae234

By:

Srinivas, Sahana M;
Moss, Celia

Publication type:

Article

Pachyonychia congenita: pathogenesis of pain and approaches to treatment.

Published in:

Clinical & Experimental Dermatology, 2024, v. 49, n. 12, p. 1510, doi. 10.1093/ced/llae199

By:

McCarthy, Rebecca L;
Brito, Marianne de;
O'Toole, Edel A

Publication type:

Article

Basan syndrome in a family from South India: a novel SMARCAD1 variant.

Published in:

Clinical & Experimental Dermatology, 2024, v. 49, n. 4, p. 437, doi. 10.1093/ced/llad393

By:

Mathews, Irene;
Wagh, Shivangi;
Baby, Aimin;
Chandrashekar, Laxmisha;
Dalal, Ashwin

Publication type:

Article

Corrigendum.

Published in:: Clinical & Experimental Dermatology, 2021, v. 46, n. 7, p. 1395, doi. 10.1111/ced.14864
Publication type:: Article

Identification of clinically useful predictive genetic variants in pachyonychia congenita.

Published in:

Clinical & Experimental Dermatology, 2021, v. 46, n. 5, p. 867, doi. 10.1111/ced.14569

By:

Samuelov, L.;
Sarig, O.;
Adir, N.;
Pavlovsky, M.;
Smith, F. J.;
Schwartz, J.;
Hansen, C. D.;
Sprecher, E.

Publication type:

Article

Molecular epidemiology of pachyonychia congenita in the Israeli population.

Published in:

Clinical & Experimental Dermatology, 2021, v. 46, n. 4, p. 663, doi. 10.1111/ced.14509

By:

Pavlovsky, M.;
Peled, A.;
Samuelov, L.;
Malki, L.;
Malovitski, K.;
Assaf, S.;
Mohamad, J.;
Meijers, O.;
Eskin‐Schwartz, M.;
Sarig, O.;
Sprecher, E.

Publication type:

Article

A novel c.916C>A EDA gene pathogenic variant in a boy with X‐linked hypohidrotic ectodermal dysplasia.

Published in:

Clinical & Experimental Dermatology, 2021, v. 46, n. 3, p. 618, doi. 10.1111/ced.14522

By:

Mintoff, D.;
Pace, N. P.;
Mercieca, V.;
Bauer, P.;
Borg, I.

Publication type:

Article

Homozygous dominant missense mutation in Keratin 6b leading to severe pachyonychia congenita.

Published in:

Clinical & Experimental Dermatology, 2021, v. 46, n. 2, p. 410, doi. 10.1111/ced.14494

By:

Mathews, J.;
Hansen, C. D.;
Chandrashekar, L.

Publication type:

Article

An unusual manifestation of X‐linked hypohidrotic ectodermal dysplasia with palmoplantar keratoderma.

Published in:

Clinical & Experimental Dermatology, 2020, v. 45, n. 3, p. 352, doi. 10.1111/ced.14096

By:

De Brito, M.;
Ferguson, L.;
Mansour, S.;
Khan, I.

Publication type:

Article

Eccrine porocarcinoma in a patient with Schöpf–Schulz–Passarge syndrome.

Published in:

Clinical & Experimental Dermatology, 2019, v. 44, n. 8, p. 938, doi. 10.1111/ced.13932

By:

Howard, L.;
Davis, R.;
Bhatt, N.;
Khan, U.;
Keith, D.

Publication type:

Article

A systematic review of reported cases of pachyonychia congenita tarda.

Published in:

Clinical & Experimental Dermatology, 2019, v. 44, n. 6, p. 606, doi. 10.1111/ced.13980

By:

Tatiane, A.;
Slape, D.;
Lawless, R.;
Frew, J. W.

Publication type:

Article

A novel 1-bp deletion mutation and extremely skewed X-chromosome inactivation causing severe X-linked hypohidrotic ectodermal dysplasia in a Chinese girl.

Published in:

Clinical & Experimental Dermatology, 2018, v. 43, n. 1, p. 60, doi. 10.1111/ced.13241

By:

Lei, K.;
Zhang, Y.;
Dong, Z.;
Sun, Y.;
Yi, Z.;
Chen, Z.

Publication type:

Article