Roy E. Weiss
Affiliations: | University of Chicago, Chicago, IL |
Area:
Pathology, Molecular BiologyGoogle:
"Roy Weiss"
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Publications
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| Ebrhim RS, Furman AE, Watanabe Y, et al. (2023) Congenital Hypothyroidism in Two Sudanese Families harboring a novel Iodotyrosine deiodinase mutation (IYD R279C). Thyroid : Official Journal of the American Thyroid Association |
| Furman AE, Hannoush Z, Barrera Echegoyen FX, et al. (2021) Novel DIO1 gene mutation acting as phenotype modifier for novel compound heterozygous TPO gene mutations causing congenital hypothyroidism. Thyroid : Official Journal of the American Thyroid Association |
| Furman AE, Dumitrescu AM, Refetoff S, et al. (2020) Early diagnosis and treatment of an infant with a novel THRA gene (pC380SfsX9) mutation. Thyroid : Official Journal of the American Thyroid Association |
| Refetoff S, Pappa T, Williams MK, et al. (2020) Prenatal treatment of thyroid hormone cell membrane transport defect caused by MCT8 gene mutation. Thyroid : Official Journal of the American Thyroid Association |
| Fu J, Korwutthikulrangsri M, Gönç EN, et al. (2020) Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations. The Journal of Clinical Endocrinology and Metabolism. 105 |
| Ebrhim RS, Bruellman RJ, Watanabe Y, et al. (2020) Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHβ. Hormone Research in Paediatrics. 1-5 |
| Bruellman RJ, Watanabe Y, Ebrhim RS, et al. (2019) Insertion of an Alu element in the thyroglobulin gene as a novel cause of congenital hypothyroidism. Thyroid : Official Journal of the American Thyroid Association |
| Fu J, Korwutthikulrangsri M, Ramos-Platt L, et al. (2019) Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 variants. Thyroid : Official Journal of the American Thyroid Association |
| Watanabe Y, Bruellman RJ, Ebrhim RS, et al. (2018) Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid : Official Journal of the American Thyroid Association |
| Watanabe Y, Ebrhim RS, Abdullah MA, et al. (2018) A Novel Missense Mutation in SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism. Thyroid : Official Journal of the American Thyroid Association |