Works matching DE "RAPP-Hodgkin syndrome"

Results: 24

Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia.

Published in:

2016

By:

Karthikeyani, Shanmugasundaram;
Thirumurthy, Velliangattur Ramasamy;
Yuvaraja, Bindhoo A.

Publication type:

journal article

Ending diagnostic odyssey using clinical whole-exome sequencing (CWES).

Published in:

Journal of Laboratory Medicine, 2021, v. 45, n. 6, p. 259, doi. 10.1515/labmed-2021-0127

By:

Lam, Ching-Wan

Publication type:

Article

Christ-Siemens-Touraine Syndrome: A Case Report and Review of the Literature.

Published in:

Case Reports in Dentistry, 2012, p. 1, doi. 10.1155/2012/586418

By:

Mokhtari, Sepideh;
Mokhtari, Saeedeh;
Lotfi, Ali

Publication type:

Article

Buphthalmos development in adult: case report.

Published in:

Arquivos Brasileiros de Oftalmologia, 2012, v. 75, n. 5, p. 361, doi. 10.1590/S0004-27492012000500015

By:

ALVES, MÔNICA;
TANNUS MALKI, LEONARDO;
MELANI ROCHA, EDUARDO

Publication type:

Article

A Rare Cause of Fever in the Emergency Department: Anhidrotic Ectodermal Dysplasia.

Published in:

Turkish Journal of Emergency Medicine, 2013, v. 13, n. 2, p. 89, doi. 10.5505/1304.7361.2013.54366

By:

KALKAN, Asım;
YENİOCAK, Selman;
BİLİR, Özlem;
ERSUNAN, Gökhan;
GİAKOUP, Baris

Publication type:

Article

EDA-ID and IP, Two Faces of the Same Coin: How the Same IKBKG / NEMO Mutation Affecting the NF-κB Pathway Can Cause Immunodeficiency and/or Inflammation.

Published in:

International Reviews of Immunology, 2015, v. 34, n. 6, p. 445, doi. 10.3109/08830185.2015.1055331

By:

Fusco, Francesca;
Pescatore, Alessandra;
Conte, Matilde Immacolata;
Mirabelli, Peppino;
Paciolla, Mariateresa;
Esposito, Elio;
Lioi, Maria Brigida;
Ursini, Matilde Valeria

Publication type:

Article

A Case of Anhidrotic Ectodermal Dysplasia.

Published in:

2013

By:

AKGÜN, Cihangir;
ÜSTYOL, Lokman;
KAYA, Avni;
AKBAYRAM, Sinan;
ÖZEN, Süleyman;
ERTEN, Remzi;
AKTAR, Fesih;
ÖZGÖKÇE ÖZMEN, Berin

Publication type:

Case Study

Syndromes and Genetics.

Published in:: 2021
Publication type:: Abstract

Dental management of hypohidrotic ectodermal dysplasia: A report of two cases.

Published in:

2015

By:

MITTAL, MEENU;
SRIVASTAVA, DHIRENDRA;
KUMAR, ASHOK;
SHARMA, POONAM

Publication type:

Case Study

Avaliação do NF-kB na regulação gênica do sistema NADPH oxidase em pacientes com displasia ectodérmica com imunodeficiência.

Published in:

ConScientiae Saúde, 2016, v. 15, n. 1, p. 114, doi. 10.5585/ConsSaude.v15n1.6259

By:

Ruggero Errante, Paolo;
Menezes Rodrigues, Francisco Sandro;
Nogueira Ferraz, Renato Ribeiro

Publication type:

Article

XL-EDA-ID Presenting with Congenital Duodenal Atresia and Perforations.

Published in:

Journal of Clinical Immunology, 2018, v. 38, n. 7, p. 733, doi. 10.1007/s10875-018-0544-5

By:

Mitani, Yusuke;
Wada, Taizo;
Matsuda, Yusuke;
Sakai, Seisho;
Yachie, Akihiro

Publication type:

Article

Autosomal Dominant Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused by a Novel NFKBIA Mutation, p.Ser36Tyr, Presents with Mild Ectodermal Dysplasia and Non-Infectious Systemic Inflammation.

Published in:

Journal of Clinical Immunology, 2013, v. 33, n. 7, p. 1165, doi. 10.1007/s10875-013-9924-z

By:

Yoshioka, Takakazu;
Nishikomori, Ryuta;
Hara, Junichi;
Okada, Keiko;
Hashii, Yoshiko;
Okafuji, Ikuo;
Nodomi, Seishiro;
Kawai, Tomoki;
Izawa, Kazushi;
Ohnishi, Hidenori;
Yasumi, Takahiro;
Nakahata, Tatsutoshi;
Heike, Toshio

Publication type:

Article

Cicatricial external auditory canal stenosis caused by ectodermal dysplasia: Rapp-Hodgkin syndrome.

Published in:

2013

By:

Sosulski, Amanda B.;
Hayes, James D.

Publication type:

Journal Article

Death Due to Complications of Anhidrotic Ectodermal Dysplasia.

Published in:

Journal of Forensic Sciences, 2014, v. 59, n. 6, p. 1672, doi. 10.1111/1556-4029.12564

By:

Ogden, Emily;
Schandl, Cynthia;
Tormos, Lee Marie

Publication type:

Article

Let-7b regulates alpaca hair growth by downregulating ectodysplasin A.

Published in:

Molecular Medicine Reports, 2018, v. 17, n. 3, p. 4688, doi. 10.3892/mmr.2018.8442

By:

Liu, Ning;
Niu, Shu;
Cao, Xiao-Rui;
ChENg, Jia-Qi;
Gao, Shu-Yuan;
Yu, Xiu-Ju;
Wang, Hai-Dong;
Dong, Chang-ShENg;
He, Xiao-Yan

Publication type:

Article

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2017, v. 31, n. 1, p. e17, doi. 10.1111/jdv.13587

By:

Chaudhary, A.K.;
Mohapatra, R.;
Nagarajaram, H.A.;
Ranganath, P.;
Dalal, A.;
Dutta, A.;
Danda, S.;
Girisha, K.M.;
Bashyam, M.D.

Publication type:

Article

Non-invasive diagnosis of sweat gland dysplasia using optical coherence tomography and reflectance confocal microscopy in a family with anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome).

Published in:

Journal of the European Academy of Dermatology & Venereology, 2016, v. 30, n. 4, p. 677, doi. 10.1111/jdv.13085

By:

Reinholz, M.;
Gauglitz, G.G.;
Giehl, K.;
Braun ‐ Falco, M.;
Schwaiger, H.;
Schauber, J.;
Ruzicka, T.;
Berneburg, M.;
Braunmühl, T.

Publication type:

Article

Autosomal Recessive Anhidrotic Ectodermal Dysplasia: A Rare Entity.

Published in:

Indian Journal of Dermatology, 2014, v. 59, n. 4, p. 1, doi. 10.4103/0019-5154.135541

By:

Ghosh, Sangita;
Ghosh, Epsita;
Dayal, Surabhi

Publication type:

Article

High-Potency Topical Steroids: An Effective Therapy for Chronic Scalp Inflammation in Rapp-Hodgkin Ectodermal Dysplasia.

Published in:

Pediatric Dermatology, 2016, v. 33, n. 2, p. e84, doi. 10.1111/pde.12784

By:

Theiler, Martin;
Frieden, Ilona J.

Publication type:

Article

Rapp Hodgkin Syndrome.

Published in:

Indian Dermatology Online Journal, 2017, v. 8, n. 3, p. 215, doi. 10.4103/idoj.IDOJ_100_16

By:

Chatterjee, Manas;
Neema, Shekhar;
Mukherjee, Sweta

Publication type:

Article

Christ-Siemens-Touraine syndrome with palmoplantar keratoderma: A rare association.

Published in:

2016

By:

Kothiwala, Sunil K.;
Prajapat, Mahesh;
Kuldeep, C. M.

Publication type:

Case Study

Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome.

Published in:

Annals of Maxillofacial Surgery, 2013, v. 3, n. 1, p. 58, doi. 10.4103/2231-0746.110085

By:

van Straten, Cornelia;
Butow, Kurt-W.

Publication type:

Article

Autosomal Recessive Anhidrotic Ectodermal Dysplasia: A Rare Disease.

Published in:

2018

By:

Arif, Tasleem;
Adil, Mohammad;
Amin, Syed Suhail;
Dorjay, Konchok

Publication type:

Letter to the Editor

Rapp-Hodgkin Syndrome: Clinical and Dental Findings.

Published in:

2009

By:

Tosun, Gul;
Elbay, Ulku

Publication type:

Case Study