نتائج البحث - "Anhidrotic"

1

A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement

المؤلفون: Holm Schneider, Christine Schweikl, Florian Faschingbauer, Smail Hadj-Rabia, Pascal Schneider

المصدر: International journal of molecular sciences, vol. 24, no. 8, pp. 7155
International Journal of Molecular Sciences; Volume 24; Issue 8; Pages: 7155

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6935ca73489ed826b8ed8cf19bab4c7Test
https://opus4.kobv.de/opus4-fau/files/22840/ijms-24-07155-v2.pdfTest

2

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

المؤلفون: B. Leo, H. Schneider, J. Hammersen

المصدر: Journal of the European Academy of Dermatology and Venereology. 36:1863-1870

مصطلحات موضوعية: Adult, Ectodermal Dysplasia 1, Anhidrotic, Reproduction, Decision Making, Limb Deformities, Congenital, Dermatology, Ectodysplasins, Middle Aged, Young Adult, Cross-Sectional Studies, Infectious Diseases, Pregnancy, Humans, Female, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c3c2231ff09bfd9cc37f1b707bf16dcTest
https://doi.org/10.1111/jdv.18267Test

3

Time Course of Conical Teeth in Anhidrotic Ectodermal Dysplasia with Immunodeficiency

المؤلفون: Akihiko Saitoh, Chihaya Imai, Yuta Aizawa

المصدر: Journal of Clinical Immunology. 42:1168-1170

مصطلحات موضوعية: Ectodermal Dysplasia 1, Anhidrotic, Ectodermal Dysplasia, Immunology, Immunologic Deficiency Syndromes, Humans, Immunology and Allergy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2208107fd2fbfffbf26241d8c71f756bTest
https://doi.org/10.1007/s10875-022-01300-xTest

4

Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India

المؤلفون: Hampapathalu A. Nagarajaram, Gandham SriLakshmi Bhavani, Prajnya Ranganath, Ashwin Dalal, Rekha Gupta, Sumita Danda, Aishwarya Gholse, Ajay K. Chaudhary, Murali D. Bashyam, Atanu Kumar Dutta, Hariharan V Sankar, Katta M. Girisha, Shubha Rao Phadke, Neerja Gupta

المصدر: American Journal of Medical Genetics Part A. 188:788-805

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f2be50c8020ca4566606a5daa9f6d1dTest
https://doi.org/10.1002/ajmg.a.62579Test

5

Dimensional Changes in Dental Arches after Complete Dentures Rehabilitation of a Patient with Hypohidrotic Ectodermal Dysplasia: A Case Report with 18-Year Follow-Up

المؤلفون: Alix Maria Gregory Sawaya, de Castro, Maria Salete, Nahás Pires Corrêa, Fernanda Nahás, Pires Corrêa, Cristiane, de Almeida Baldini Cardoso, Stella Ferreira, do Amaral, Michele Baffi, Diniz

المصدر: Journal of Clinical Pediatric Dentistry. 45:421-427

مصطلحات موضوعية: Young Adult, stomatognathic diseases, Dental Arch, Ectodermal Dysplasia 1, Anhidrotic, Adolescent, Denture, Complete, stomatognathic system, Quality of Life, Humans, General Medicine, Child, Anodontia, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::732ca3ba96035d1a30775b74e2bf2ccdTest
https://doi.org/10.17796/1053-4625-45.6.9Test

6

Understanding the impact of missense mutations on the structure and function of the EDA gene in X‐linked hypohidrotic ectodermal dysplasia: A bioinformatics approach

المؤلفون: Prashant Ranjan, Parimal Das

المصدر: Journal of Cellular Biochemistry. 123:431-449

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72964c5da4046256757885d68c1c99dbTest
https://doi.org/10.1002/jcb.30186Test

7

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

المؤلفون: Christine, Schweikl, Sigrun, Maier-Wohlfart, Holm, Schneider, Jung, Park

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 20; Pages: 12189

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7097f41f6dc0ca12e86888493fa91f7dTest

8

A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia

المؤلفون: Giovanni Capuzzello, Joana Gonçalves Pontes Jacinto, Irene Monika Häfliger, Gail E. Chapman, Sara Soto Martin, Lorenzo Viora, Nicholas N. Jonsson, Cord Drögemüller

المصدر: Capuzzello, Giovanni; Pontes Jacinto, Joana Gonçalves; Häfliger, Irene Monika; Chapman, Gail E; Soto Martin, Sara; Viora, Lorenzo; Jonsson, Nicholas N; Drögemüller, Cord (2022). A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia. Acta Veterinaria Scandinavica, 64(1), p. 23. BioMed Central Ltd. 10.1186/s13028-022-00641-2 <http://dx.doi.org/10.1186/s13028-022-00641-2Test>

مصطلحات موضوعية: Male, Ectodermal Dysplasia 1, Anhidrotic, 630 Agriculture, General Veterinary, Cattle Diseases, 610 Medicine & health, Exons, General Medicine, Ectodysplasins, Phenotype, Ectodermal Dysplasia, Animals, 590 Animals (Zoology), Cattle