PMC Articles for MedGen (Select 539190) - PMC

Select item 79634101.

Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis

Francesca Andreoni, Claudia Sgattoni, Daniela Bencardino, Oriana Simonetti, Antonino Forabosco, Mauro Magnani

Mol Genet Genomic Med. 2021 Jan; 9(1): e1555. Published online 2020 Nov 18. doi: 10.1002/mgg3.1555

PMCID:: PMC7963410

Select item 68921932.

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

María Carmen Martínez-Romero, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Barreda-Sánchez, Lidya Rodriguez-Peña, María Teresa Martínez-Menchon, José Frías-Iniesta, Paloma Sánchez-Pedreño, Pablo Carbonell-Meseguer, Guillermo Glover-López, Encarna Guillén-Navarro, GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia)

Orphanet J Rare Dis. 2019; 14: 281. Published online 2019 Dec 3. doi: 10.1186/s13023-019-1251-x

PMCID:: PMC6892193

Abstract Article PDF–577K

Select item 57336403.

Severe disease and greater impairment of NF-κB activation in IκBa point mutants versus truncation mutants in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency

Daniel Petersheim, Michel J. Massaad, Saetbyul Lee, Alessia Scarselli, Caterina Cancrini, Kunihiko Moriya, Yoji Sasahara, Arjan C. Lankester, Morna Dorsey, Daniela Di Giovanni, Liliana Bezrodnik, Hidenori Ohnishi, Ryuta Nishikomori, Kay Tanita, Hirokazu Kanegane, Tomohiro Morio, Erwin W. Gelfand, Ashish Jain, Elizabeth Secord, Capucine Picard, Jean-Laurent Casanova, Michael H. Albert, Troy R. Torgerson, Raif S. Geha

J Allergy Clin Immunol. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: J Allergy Clin Immunol. 2018 Mar; 141(3): 1060–1073.e3. Published online 2017 Jun 17. doi: 10.1016/j.jaci.2017.05.030

PMCID:: PMC5733640

Abstract Article PDF–1.5M

Select item 45600894.

Hair shaft structures in EDAR induced ectodermal dysplasia

C. Stecksén-Blicks, C. Falk Kieri, D. Hägg, M. Schmitt-Egenolf

BMC Med Genet. 2015; 16: 79. Published online 2015 Sep 4. doi: 10.1186/s12881-015-0227-5

PMCID:: PMC4560089

Abstract Article PDF–789K

Select item 40368325.

EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation

Catarina Falk Kieri, Birgitta Bergendal, Lisbet K Lind, Marcus Schmitt-Egenolf, Christina Stecksén-Blicks

BMC Med Genet. 2014; 15: 57. Published online 2014 May 16. doi: 10.1186/1471-2350-15-57

PMCID:: PMC4036832

Abstract Article PDF–1.4M

Select item 31310616.

Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or IκBα Deficiency

Capucine Picard, Jean-Laurent Casanova, Anne Puel

Clin Microbiol Rev. 2011 Jul; 24(3): 490–497. doi: 10.1128/CMR.00001-11

PMCID:: PMC3131061

Abstract Article PDF–579K

Select item 25685697.

Three successive generations of women with anhidrotic/hypohidrotic ectodermal dysplasia.

Rui G. Rodrigues

J Natl Med Assoc. 2005 Jan; 97(1): 99–101.

PMCID:: PMC2568569

Summary Page Browse PDF–1.0M

Select item 16842498.

EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families

Lisbet K Lind, Christina Stecksén-Blicks, Kristina Lejon, Marcus Schmitt-Egenolf

BMC Med Genet. 2006; 7: 80. Published online 2006 Nov 24. doi: 10.1186/1471-2350-7-80

PMCID:: PMC1684249

Abstract Article PDF–555K

Select item 13770969.

A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13.

L Ho, M S Williams, R A Spritz

Am J Hum Genet. 1998 May; 62(5): 1102–1106. doi: 10.1086/301839

PMCID:: PMC1377096

Summary PDF–269K

Select item 128793010.

A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO)

Jonathan Zonana, Melissa E. Elder, Lynda C. Schneider, Seth J. Orlow, Celia Moss, Mahin Golabi, Stuart K. Shapira, Peter A. Farndon, Diane W. Wara, Stephanie A. Emmal, Betsy M. Ferguson

Am J Hum Genet. 2000 Dec; 67(6): 1555–1562. Published online 2000 Oct 24. doi: 10.1086/316914

PMCID:: PMC1287930

Abstract Article PDF–651K

Select item 19852911.

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

Gilles Courtois, Asma Smahi, Janine Reichenbach, Rainer Döffinger, Caterina Cancrini, Marion Bonnet, Anne Puel, Christine Chable-Bessia, Shoji Yamaoka, Jacqueline Feinberg, Sophie Dupuis-Girod, Christine Bodemer, Susanna Livadiotti, Francesco Novelli, Paolo Rossi, Alain Fischer, Alain Israël, Arnold Munnich, Françoise Le Deist, Jean-Laurent Casanova

J Clin Invest. 2003 Oct 1; 112(7): 1108–1115. doi: 10.1172/JCI18714

PMCID:: PMC198529

Abstract Article PDF–1.3M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 11

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity