X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA) - ANALYSIS OF CYTOGENETIC REARRANGEMENTS IN 4 PATIENTS AND DEVELOPMENT OF A DETAILED PHYSICAL MAP WITHIN XQ12-Q13.1.

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA) - ANALYSIS OF CYTOGENETIC REARRANGEMENTS IN 4 PATIENTS AND DEVELOPMENT OF A DETAILED PHYSICAL MAP WITHIN XQ12-Q13.1.

Bibliografische gegevens
Hoofdauteurs:	Thomas, N, Chelly, J, Zonana, J, Davies, K, Clarke, A, Roberts, S, Fielding, D, Fryer, A, Gault, J, Rack, K, Buckle, V, Monaco, A
Formaat:	Journal article
Gepubliceerd in:	1993

Gelijkaardige items

CHARACTERIZATION OF MOLECULAR DNA REARRANGEMENTS, WITHIN THE XQ12-]Q13.1 REGION, IN 4 PATIENTS WITH X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA)
door: Thomas, N, et al.
Gepubliceerd in: (1993)

Hypohidrotic ectodermal dysplasia
door: Piotr Jarliński, et al.
Gepubliceerd in: (2021-02-01)

High penetrance of EDA pathogenic variants in Mexican female carriers with hypohidrotic ectodermal dysplasia
door: Constanza García-Delgado, et al.
Gepubliceerd in: (2020-01-01)

Hypohidrotic Ectodermal Dysplasia
door: Chiranjit Ghosh, et al.
Gepubliceerd in: (2021-10-01)

Hypohidrotic ectodermal dysplasia
door: Saurabh Agarwal, et al.
Gepubliceerd in: (2012-01-01)

A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report
door: Baiba Alksere, et al.
Gepubliceerd in: (2021-12-01)

Methylation state of the EDA gene promoter in Chinese X-linked hypohidrotic ectodermal dysplasia carriers.
door: Wei Yin, et al.
Gepubliceerd in: (2013-01-01)

A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype
door: Dominik P. Waluk, et al.
Gepubliceerd in: (2016-09-01)

Keratoconus in hypohidrotic ectodermal dysplasia
door: Carolina Peres Batalha, et al.
Gepubliceerd in: (2019-01-01)

YAC CONTIGS IN XQ12-]Q13.1
door: Rider, S, et al.
Gepubliceerd in: (1994)

Correction: Methylation State of the EDA Gene Promoter in Chinese X-Linked Hypohidrotic Ectodermal Dysplasia Carriers.
door: Wei Yin, et al.
Gepubliceerd in: (2013-01-01)

Psychoeducational Characteristics of Children with Hypohidrotic Ectodermal Dysplasia
door: Rolanda A. Maxim, et al.
Gepubliceerd in: (2012-01-01)

Hypohidrotic ectodermal dysplasia and physical exercise
door: Hammersen Johanna E
Gepubliceerd in: (2012-05-01)

Early recognition of hypohidrotic ectodermal dysplasia
door: Schneider Holm
Gepubliceerd in: (2012-05-01)

Molecular basis and genetics of hypohidrotic ectodermal dysplasias
door: V. A. Kovalskaia, et al.
Gepubliceerd in: (2023-11-01)

A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor‐binding capability
door: Xingyu Liu, et al.
Gepubliceerd in: (2023-04-01)

Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype–Phenotype: A Correlation Analysis
door: Yang Han, et al.
Gepubliceerd in: (2020-02-01)

A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia
door: Marzieh Rahbaran, et al.
Gepubliceerd in: (2019-08-01)

X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in <i>EDA</i>
door: Donal O’Toole, et al.
Gepubliceerd in: (2021-03-01)

A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia
door: Danae Vasiliadis, et al.
Gepubliceerd in: (2019-01-01)

Lower Lid Ectropion in Hypohidrotic Ectodermal Dysplasia
door: Xiaoyun Zhang, et al.
Gepubliceerd in: (2015-01-01)

Hypohidrotic ectodermal dysplasia and juxtaclavicular beaded lines
door: Anna Dubois, BSc, MBChB, et al.
Gepubliceerd in: (2022-10-01)

Presentation of hypohidrotic ectodermal dysplasia in two siblings
door: Uday Ginjupally, et al.
Gepubliceerd in: (2015-01-01)

Involvement of the ocular system in hypohidrotic ectodermal dysplasia
door: Kaercher Thomas
Gepubliceerd in: (2012-05-01)

Hypohidrotic Ectodermal Dysplasia (ED): A Case Series
door: Mallika Kishore, et al.
Gepubliceerd in: (2014-01-01)

Hypohidrotic ectodermal dysplasia and finger clubbing – An unknown association
door: Amit Sarkar
Gepubliceerd in: (2014-05-01)

The role of partial denture in management of hypohidrotic ectodermal dysplasia
door: Tania Saskianti, et al.
Gepubliceerd in: (2008-06-01)

Fine mapping of the human SCIDX1 locus at Xq12-13.1.
door: Markiewicz, S, et al.
Gepubliceerd in: (1993)

An Insight into the Genesis of Hypohidrotic Ectodermal Dysplasia in a Case Report
door: Kiran Kumar, et al.
Gepubliceerd in: (2012-01-01)

Genetic counselling of a male patient with hypohidrotic ectodermal dysplasia
door: Kovács G, et al.
Gepubliceerd in: (2012-05-01)

Hereditary Hypohidrotic Ectodermal Dysplasia: Report of a Rare Case
door: Geetha Paramkusam, et al.
Gepubliceerd in: (2013-09-01)

A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia
door: Giovanni Capuzzello, et al.
Gepubliceerd in: (2022-09-01)

Α de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia
door: Clémentine Escouflaire, et al.
Gepubliceerd in: (2019-09-01)

Hypohidrotic Ectodermal Dysplasia: Prosthetic Rehabilitation of a Rare Pediatric Case
door: Monalisa Das, et al.
Gepubliceerd in: (2024-09-01)

Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia
door: Michele Callea, et al.
Gepubliceerd in: (2022-09-01)

Early prosthodontic intervention in a child patient of hypohidrotic ectodermal dysplasia
door: Culatur Thulasingam, et al.
Gepubliceerd in: (2013-01-01)

Complete phenotypic expression of hypohidrotic ectodermal dysplasia in a female patient
door: Sumit Sen, et al.
Gepubliceerd in: (2020-01-01)

Dental management of hypohidrotic ectodermal dysplasia: A report of two cases
door: Meenu Mittal, et al.
Gepubliceerd in: (2015-01-01)

A first case report of hypohidrotic ectodermal dysplasia from Oman
door: Musallam Al‐Araimi, et al.
Gepubliceerd in: (2020-04-01)

Early dental intervention in patients with X-linked hypohidrotic ectodermal dysplasia
door: Bücher K
Gepubliceerd in: (2012-05-01)