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.

书目详细资料
Main Authors:	Thomas, N, Chelly, J, Zonana, J, Davies, K, Clarke, A, Roberts, S, Fielding, D, Fryer, A, Gault, J, Rack, K, Buckle, V, Monaco, A
格式:	Journal article
出版:	1993

相似书籍

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

Hypohidrotic ectodermal dysplasia
由: Piotr Jarliński, et al.
出版: (2021-02-01)

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

Hypohidrotic Ectodermal Dysplasia
由: Chiranjit Ghosh, et al.
出版: (2021-10-01)

Hypohidrotic ectodermal dysplasia
由: Saurabh Agarwal, et al.
出版: (2012-01-01)

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

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

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

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

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

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

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

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

Early recognition of hypohidrotic ectodermal dysplasia
由: Schneider Holm
出版: (2012-05-01)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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