Articles

Reproductive decision-making by women with X-linked hypohidrotic ectodermal dysplasia B. Leo,H. Schneider, and J. Hammersen

Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy
and Safety of Intra-Amniotic ER004 Administration to Male
Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia
Holm Schneider, Smail Hadj-Rabia, Florian Faschingbauer, Christine Bodemer, Dorothy K. Grange, Mary E. Norton, Riccardo Cavalli, Gianluca Tadini, Holger Stepan, Angus Clarke, Encarna Guillén-Navarro, Sigrun Maier-Wohlfart, Athmane Bouroubi, and Florence Porte.

Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly UpdateNicolai Peschel, John T. Wright, Maranke I. Koster, Angus J. Clarke, Gianluca Tadini, Mary Fete, Smail Hadj-Rabia, Virginia P. Sybert, Johanna Norderyd, Sigrun Maier-Wohlfart, Timothy J. Fete, Nina Pagnan, Atila F. Visinoni, and Holm Schneider.

Ectodysplasin A1 Deficiency Leads to Osteopetrosis-like
Changes in Bones of the Skull Associated with Diminished
Osteoclastic Activity
Christine Schweikl, Sigrun Maier-Wohlfart, Holm Schneider, and Jung Park

Congenital Nail Disorders among Children with Suspected
Ectodermal Dysplasias
Sigrun Maier-Wohlfart, Carmen Aicher, Ines Willershausen, Nicolai Peschel, Udo Meißner, Lina Gölz and Holm Schneider.

3D Facial Analysis & Etodermal Dysplasia
Peter Hammond & Neil Macbeth

A Cure for Mice with X-Linked Hypohidrotic Ectodermal Dysplasia
Prof. Angus Clarke, DM, FRCP, FRCPCH

Advice on treatment with dental implants in hypohidrotic ED
Birgitta Bergendal, PhD & Ia Nielsen

Common Ear, Nose & Throat Problems in E D
Dr. Robert P Mills, MS, MPhil, FRCS(Eng), FRCS(Ed)

Congenital Nail Disorders among Children with Suspected Ectodermal Dysplasias
Dr. Sigrun Maier-Wohlfart et al

Ectodermal Dysplasia and Oral Health
Prof. June Nunn, PhD, MA, BDS, FDS PCS(Eng), DDPH, PCS(Eng)+

Ectodermal Dysplasias
Prof. John A McGrath, MD, FRCP

Ectodermal Dysplasias – Why they are so diverse and how that can benefit us
Pascal Duijf

ED and Ear, Nose and Throat Problems
Richard Mills, Senior Lecturer and Consultant ENT Surgeon

ED Spanish National Project
Next Generation sequencing applied to the diagnosis and new genes identification in ectodermal dysplasia (ISCIII-PI17/00796) PI: E Guillén-Navarro

ED and Teeth
Mr. Peter Crawford, BDS, MScD, FDS, RCSEd, FDSRCS, FRCPCH

Ectodermal Dysplasia
Mr. Colin Willoughby, BSc., MBChB, MD, FRCPphth

Ectodysplasin A1 Deficiency Leads to Osteopetrosis-like
Changes in Bones of the Skull Associated with Diminished
Osteoclastic Activity

Christine Schweikl, MD, et al.

Epistem project

Features of Ectodermal Dysplasia: dominance, sex and women
Prof. Angus Clarke, DM, FRCP, FRCPCH

Hair in ED – Don’t forget that you can get normal problems too.
David De Berker Con. Dermatologist

Heat and exercise study in Ectodermal Dysplasia
Heather Massey

How I came to specialise in the genetics of IP
Dr. Helen Stewart, MD FRCP

Incontinentia Pigmenti(IP) (Bloch-Sulzberger syndrome)
Dr. Helen Stewart, MD FRCP

Missing Teeth and Dental Implants 1999
Prof. John A Hobkirk, Dr.MedHc. PhD, BDS, FDS, RCS, FDS+

Missing Teeth and Dental Implants 2004
Prof. John A Hobkirk, Dr.MedHc. PhD, BDS, FDS, RCS, FDS+

Molecular Pathway-Based Classification of Ectodermal
Dysplasias: First Five-Yearly Update

Dr. Nicolai Peschel et al

Mortality in X-Linked Hypohidrotic Ectodermal Dysplasia
Prof. Angus Clarke, DM, FRCP, FRCPCH

News from our Geneticist
Prof. Angus Clarke, DM, FRCP, FRCPCH

Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy
and Safety of Intra-Amniotic ER004 Administration to Male
Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia

Holm Schneider, MD et al

Reproductive decision-making by women with X-linked
hypohidrotic ectodermal dysplasia

Büsra Leo et al

Research from Liverpool
Mr. Colin Willoughby, BSc., MBChB, MD, FRCPphth

Research update p63 Gene

Structure of Hair
Green and Paladino

Teeth and Toddlers
Mr. Peter Crawford, BDS, MScD, FDS, RCSEd, FDSRCS, FRCPCH

The Human Genome Project and Ectodermal Dysplasia
Prof. Angus Clarke, DM, FRCP, FRCPCH

They have found the Gene
Prof. Angus Clarke, DM, FRCP, FRCPCH

The “Eye” in IP
Mr. Colin Willoughby, BSc., MBChB, MD, FRCPphth

Cicatrising conjunctivitis with anti-basement membrane autoantibodies in Ectodermal Dysplasia
V P J Saw, J K G Dart, C Sitaru and D Zillikens

Protocol for the diagnosis, care and treatment of Incontinentia Pigmenti

Covid-19 and ectodermal dysplasia

Multidisciplinary Hypodontia Clincs

The Edimer X-Linked Hypohidrotic Ectodermal Dysplasia Newborn Boys Study

Edimer Newborn Clinical Trial of EDI200 April 2015

Edimer Newborn Clinical Trial of EDI200 July 2015

Edimer initiates Phase 2 Trial of EDI200 in XLHED – Affected Male Newborns

X-Linked Hypohidrotic Ectodermal Dysplasia and EDI200 Trial to Cure Spring 2017

XLHED Treatment – From Set Back to Renewed Help

EspeRare PRESS RELEASE to relaunch a therapeutic programme for XLHED, a rare and life-threatening disease

The ER-004 in XLHED has recieved the FDA Breakthrough designation. See the press release here

Women’s Survey Results

Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy

Advice on implant treatment 2016

Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia

Genotype–Phenotype Correlation in Boys With X-Linked Hypohidrotic Ectodermal Dysplasia

Sweating ability of patients with p63-associated syndromes

Systematic Evaluation of Exertional Hyperthermia in Children and Adolescents With Hypohidrotic Ectodermal Dysplasia: An Observational Study

Automatic recognition of the XLHED phenotype from facial images

T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency

Reliability of prenatal detection of X‐linked hypohidrotic ectodermal dysplasia by tooth germ sonography

Diagnosis of X-Linked Hypohidrotic Ectodermal Dysplasia by Meibography and Infrared Thermography of the Eye

Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects

No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia

Prenatal Treatment of X-Linked Hypohidrotic Ectodermal Dysplasia Using Recombinant Ectodysplasin in a Canine Model

Second International Conference on a Classification of Ectodermal Dysplasias:Development of a Multiaxis Model

Ectodysplasin A in Biological Fluids and Diagnosis of Ectodermal Dysplasia

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia

Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia

Das fiebernde Kind: Diagnostisches Vorgehen und Behandlung

Prenatal Correction of X-linked Hypohidrotic Ectodermal Dysplasia – Supplimentary Appendix

Vorgeburtlicher Proteinersatz zur Behandlung der ektodermalen Dysplasie

Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development

Methods for the Administration of EDAR Pathway Modulators in Mice

Noninvasive Prenatal Diagnosis of Hypohidrotic Ectodermal Dysplasia by Tooth Germ Sonography

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway

A Novel Missense Mutation in the Gene EDARADD Associated with an Unusual Phenotype of Hypohidrotic Ectodermal Dysplasia

Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements

Subjective Oral Health-Related Quality of Life and Objective Oral Health in People with Ectodermal Dysplasia

Prenatal Therapy in Developmental Disorders: Drug Targeting via Intra-Amniotic Injection to Treat X-Linked Hypohidrotic Ectodermal Dysplasia

Generation and Characterization of Function-blocking Anti-ectodysplasin A (EDA) Monoclonal Antibodies ThatInduce Ectodermal Dysplasia

Attenuation of Mammary Gland Dysplasia and Feeding Difficulties in Tabby Mice by Fetal Therapy

Variants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia