Page last updated: 2024-08-23

sulfur and Amish Brittle Hair Brain Syndrome

sulfur has been researched along with Amish Brittle Hair Brain Syndrome in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's2 (50.00)24.3611
2020's2 (50.00)2.80

Authors

AuthorsStudies
Hatanaka, H; Niida, Y; Togi, S; Ura, H1
Coulombe, J; Garon, L; Kokta, V1
Cao, Y; Liang, Z; Liu, L; Su, H; Yang, XC; Zheng, Y; Zhou, YK1
Gagna, CE; Lambert, MW; Lambert, WC1

Reviews

1 review(s) available for sulfur and Amish Brittle Hair Brain Syndrome

ArticleYear
Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome.
    Advances in experimental medicine and biology, 2010, Volume: 685

    Topics: Animals; DNA Repair; DNA Repair-Deficiency Disorders; Female; Hair; Hair Diseases; Humans; Male; Nail Diseases; Pregnancy; Pregnancy Complications; Skin Neoplasms; Sulfur; Trichothiodystrophy Syndromes

2010

Other Studies

3 other study(ies) available for sulfur and Amish Brittle Hair Brain Syndrome

ArticleYear
Establishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing compound heterozygous missense mutations in the ERCC2 gene.
    Stem cell research, 2022, Volume: 64

    Topics: Humans; Induced Pluripotent Stem Cells; Leukocytes, Mononuclear; Mutation, Missense; Sulfur; Trichothiodystrophy Syndromes; Xeroderma Pigmentosum Group D Protein

2022
Trichothiodystrophy.
    JAMA dermatology, 2023, 08-01, Volume: 159, Issue:8

    Topics: Hair; Hair Diseases; Humans; Sulfur; Trichothiodystrophy Syndromes

2023
A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom.
    BMC medical genetics, 2018, 12-31, Volume: 19, Issue:Suppl 1

    Topics: Adaptor Proteins, Signal Transducing; Adolescent; Adult; Base Sequence; Exons; Female; Gene Expression; Genes, Recessive; Hair; Homozygote; Humans; Hypogonadism; Intellectual Disability; Male; Mutagenesis, Insertional; Pedigree; Phenotype; Protein Interaction Mapping; Sulfur; Trichothiodystrophy Syndromes

2018