Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Eve Stern"'
Autor:
Eve Stern, Nadia Schoenmakers, Adeline K. Nicholas, Eran Kassif, Orit Pinhas Hamiel, Yonatan Yeshayahu
Publikováno v:
JCRPE, Vol 14, Iss 2, Pp 221-226 (2022)
Congenital hypothyroidism (CH) due to dyshormonogenesis may occur due to mutations in any of the key genes involved in thyroid hormone biosynthesis (TG, TPO, DUOX2, DUOXA2, SLC5A5, IYD, SLC26A4 and SLC26A7). Mutations in the thyroglobulin gene (TG) a
Externí odkaz:
https://doaj.org/article/a5779d85baa3427090de90f840d39211
Publikováno v:
JCRPE, Vol 14, Iss 2, Pp 227-232 (2022)
A new syndrome of diabetes, short stature, microcephaly and intellectual disability has been described in association with mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene. We report a patient who presented with fasting hyperglyc
Externí odkaz:
https://doaj.org/article/3967adb0e10a43b7ac58ec8e08b056b4
Autor:
Sharon Barak, Yair Anikster, Ifat Sarouk, Eve Stern, Etzyona Eisenstein, Tamar Yissar, Nir Sherr-Lurie, Annick Raas-Rothschild, Dafna Guttman
Publikováno v:
Diagnostics, Vol 10, Iss 7, p 480 (2020)
The authors wish to make the following correction to this paper [...]
Externí odkaz:
https://doaj.org/article/995269e708e24069877aad6d7c79fb32
Autor:
Sharon Barak, Yair Anikster, Ifat Sarouk, Eve Stern, Etzyona Eisenstein, Tamar Yissar, Nir Sherr-Lurie, Annick Raas-Rothschild, Dafna Guttman
Publikováno v:
Diagnostics, Vol 10, Iss 2, p 108 (2020)
Enzyme replacement therapy (ERT) is one of the available therapies for mucopolysaccharidosis (MPS). This study presents a follow-up of two siblings with MPS IVA (Morquio A disease) that received ERT. Both siblings received weekly intravenous infusion
Externí odkaz:
https://doaj.org/article/b292520774774b9687832870c245b325
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology. 14:227-232
A new syndrome of diabetes, short stature, microcephaly and intellectual disability has been described in association with mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene. We report a patient who presented with fasting hyperglyc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e2875167889a7db1a4cc8155d109d5a
https://doi.org/10.4274/jcrpe.galenos.2020.2020.0265
https://doi.org/10.4274/jcrpe.galenos.2020.2020.0265
Autor:
Adeline K Nicholas, Eran Kassif, Nadia Schoenmakers, Orit Pinhas Hamiel, Eve Stern, Yonatan Yeshayahu
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology. 14:221-226
Congenital Hypothyroidism (CH) due to dyshormonogenesis may occur due to mutations in any of the key genes involved in thyroid hormone biosynthesis (TG, TPO, DUOX2, DUOXA2, SLC5A5, IYD, SLC26A4 and SLC26A7). Mutations in the Thyroglobulin gene (TG) a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4e8e425ae53dd25a20f191e7d164c53
https://doi.org/10.4274/jcrpe.galenos.2021.2020.0278
https://doi.org/10.4274/jcrpe.galenos.2021.2020.0278
Autor:
Judith Nir, Marianna Rachmiel, Abigail Fraser, Yael Lebenthal, Avivit Brener, Orit Pinhas-Hamiel, Alon Haim, Eve Stern, Noa Levek, Tal Ben-Ari, Zohar Landau
Publikováno v:
Endocrine.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa27ca2bfeeeba47be0b0d0409ea4829
https://doi.org/10.1007/s12020-023-03398-4
https://doi.org/10.1007/s12020-023-03398-4
Autor:
Eve Stern, Michal Ben-Ami, Noah Gruber, Amos Toren, Shani Caspi, Gadi Abebe-Campino, Michal Lurye, Michal Yalon, Dalit Modan-Moses
Publikováno v:
Neuro-Oncology.
BackgroundEndocrine deficiencies, including hypothalamic-pituitary-gonadal axis (HPGA) impairment, are common in survivors of childhood and adolescent medulloblastoma. Still, data regarding pubertal development and fecundity are limited, and few stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f88dd1e00f8549a4ce285c7a49c8ccd3
https://doi.org/10.1093/neuonc/noad009
https://doi.org/10.1093/neuonc/noad009
Autor:
Michalle Soudack, Michael Kinori, Eve Stern, Shani Caspi, Gadi Abebe Campino, Michal Lurye, Dalit Modan-Moses, Shoshana Greenberger, Amos Toren, Michal Yalon, Talya Finke, Ariel Hirchorn, Michal Golan, Sharon Armarnik, Uriel Katz, Michal Ben-Ami, Renana Gross
Background The MAPK pathway, is a signal transduction pathway involved in the oncogenesis of a variety of pediatric tumors. The clinical use of BRAF inhibitors and MEK inhibitors is increasingly used in oncology practice. The toxicity profile of thes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::954da995638a9046b3fb01f8e5d1d2f6
https://doi.org/10.22541/au.160225762.21068105/v1
https://doi.org/10.22541/au.160225762.21068105/v1
Autor:
Eve Stern, Dikla Pivko-Levy, Shahar Miller, Chana Graf-Barel, Yael Levy-Shraga, Michal Ben-Ami, Noa Levek, Noah Gruber, Rachel Frumkin Ben-David, Michal Yackobovitch-Gavan, Dalit Modan-Moses, Kineret Mazor-Aronovitch, Tal Ben-Ari, Zohar Landau, Orit Pinhas-Hamiel
Publikováno v:
Pediatric diabetesREFERENCES. 22(4)
Background Data regarding glycemic control in children and adolescents with a dual diagnosis of type 1 diabetes mellitus (T1DM) and attention-deficit/hyperactivity disorder (ADHD) are limited. Objective To compare various aspects of diabetes control
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea7d307be1fc7d3d99feaabd6da2d90d
https://pubmed.ncbi.nlm.nih.gov/33651452
https://pubmed.ncbi.nlm.nih.gov/33651452