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.

Bibliografiset tiedot
Päätekijät:	Thomas, N, Chelly, J, Zonana, J, Davies, K, Clarke, A, Roberts, S, Fielding, D, Fryer, A, Gault, J, Rack, K, Buckle, V, Monaco, A
Aineistotyyppi:	Journal article
Julkaistu:	1993

Samankaltaisia teoksia

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

Hypohidrotic ectodermal dysplasia
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High penetrance of EDA pathogenic variants in Mexican female carriers with hypohidrotic ectodermal dysplasia
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Hypohidrotic Ectodermal Dysplasia
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Hypohidrotic ectodermal dysplasia
Tekijä: Saurabh Agarwal, et al.
Julkaistu: (2012-01-01)

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

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

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

Keratoconus in hypohidrotic ectodermal dysplasia
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Julkaistu: (2019-01-01)

YAC CONTIGS IN XQ12-]Q13.1
Tekijä: Rider, S, et al.
Julkaistu: (1994)

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

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

Hypohidrotic ectodermal dysplasia and physical exercise
Tekijä: Hammersen Johanna E
Julkaistu: (2012-05-01)

Early recognition of hypohidrotic ectodermal dysplasia
Tekijä: Schneider Holm
Julkaistu: (2012-05-01)

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

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

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

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

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

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

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

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

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

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

Hypohidrotic Ectodermal Dysplasia (ED): A Case Series
Tekijä: Mallika Kishore, et al.
Julkaistu: (2014-01-01)

Hypohidrotic ectodermal dysplasia and finger clubbing – An unknown association
Tekijä: Amit Sarkar
Julkaistu: (2014-05-01)

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

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

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

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

Hereditary Hypohidrotic Ectodermal Dysplasia: Report of a Rare Case
Tekijä: Geetha Paramkusam, et al.
Julkaistu: (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
Tekijä: Giovanni Capuzzello, et al.
Julkaistu: (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
Tekijä: Clémentine Escouflaire, et al.
Julkaistu: (2019-09-01)

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

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

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

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

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

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

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