Search Results - "ADMONI, Osnat"

Long-Term Follow-Up and Outcomes of Autoimmune Thyroiditis in Childhood by Admoni, Osnat, Rath, Shoshana, Almagor, Tal, Elias-Assad, Ghadir, Tenenbaum-Rakover, Yardena

“…Background: Autoimmune thyroiditis (AIT) is the most common cause of acquired hypothyroidism in children. The natural outcome of AIT in childhood has been…”
Get full text

The evolving role of whole-exome sequencing in the management of disorders of sex development by Tenenbaum-Rakover, Yardena, Admoni, Osnat, Elias-Assad, Ghadir, London, Shira, Noufi-Barhoum, Marie, Ludar, Hanna, Almagor, Tal, Zehavi, Yoav, Sultan, Charles, Bertalan, Rita, Bashamboo, Anu, McElreavey, Kenneth

“…Objective Disorders of sex development (DSD) are defined as congenital conditions in which the development of chromosomal, gonadal and anatomical sex is…”
Get full text

Clinical Significance of the Parental Origin of the X Chromosome in Turner Syndrome by Sagi, Liora, Zuckerman-Levin, Nehama, Gawlik, Aneta, Ghizzoni, Lucia, Buyukgebiz, Atilla, Rakover, Yardena, Bistritzer, Tzvi, Admoni, Osnat, Vottero, Alessandra, Baruch, Oshrat, Fares, Fuad, Malecka-Tendera, Ewa, Hochberg, Ze’ev

“…Context: The phenotype in Turner syndrome (TS) is variable, even in patients with a supposedly nonmosaic karyotype. Previous work suggested that there were…”
Get full text

Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA by Ludar, Hanna, Levy-Shraga, Yael, Admoni, Osnat, Majdoub, Hussein, Aronovitch, Kineret Mazor, Koren, Ilana, Rath, Shoshana, Elias-Assad, Ghadir, Almashanu, Shlomo, Mantovani, Giovanna, Hamiel, Orit Pinhas, Tenenbaum-Rakover, Yardena

“…Pseudohypoparathyroidism type IA (PHPIA) is a rare genetic disorder characterized by hormone resistance and a typical phenotype named Albright hereditary…”
Get full text

A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals by Srichomkwun, Panudda, Admoni, Osnat, Refetoff, Samuel, de Vries, Liat

“…Congenital hypothyroidism (CH) is a common endocrine disorder in newborns. The cause of CH is thyroid dysgenesis in 80-85% of patients. Paired box gene 8…”
Get more information

Extrapancreatic Autoimmune Manifestations in Type 1 Diabetes Patients and Their First-Degree Relatives by Hanukoglu, Aaron, Mizrachi, Avraam, Dalal, Ilan, Admoni, Osnat, Rakover, Yardena, Bistritzer, Zvy, Levine, Arie, Somekh, Eli, Lehmann, Dan, Tuval, Myriam, Boaz, Mona, Golander, Avraham

“…Extrapancreatic Autoimmune Manifestations in Type 1 Diabetes Patients and Their First-Degree Relatives A multicenter study Aaron Hanukoglu , MD 1 , Avraam…”
Get full text

A novel HSD17B3 gene mutation in a 46,XY female‐phenotype newborn identified by whole‐exome sequencing by Bertalan, Rita, Admoni, Osnat, Bashamboo, Anu, Tenenbaum‐Rakover, Yardena, McElreavey, Kenneth

Get full text

Neuroendocrine Phenotype Analysis in Five Patients with Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of GPR54 by Tenenbaum-Rakover, Yardena, Commenges-Ducos, Monique, Iovane, André, Aumas, Chantal, Admoni, Osnat, de Roux, Nicolas

“…Context: Loss of function of the G protein-coupled receptor of kisspeptins (GPR54) was recently described as a new cause of isolated hypogonadotropic…”
Get full text

Long-term outcome of loss-of-function mutations in thyrotropin receptor gene by Tenenbaum-Rakover, Yardena, Almashanu, Shlomo, Hess, Ora, Admoni, Osnat, Hag-Dahood Mahameed, Ahmad, Schwartz, Naama, Allon-Shalev, Stavit, Bercovich, Dani, Refetoff, Samuell

“…Loss-of-function mutations in the thyrotropin receptor (TSHR) gene lead to resistance to TSH (RTSH) presenting with either congenital hypothyroidism (CH) or…”
Get more information

The Natural Course of Newborns with Transient Congenital Hypothyroidism by Almagor, Tal, Almashanu, Shlomo, Assad, Ghadir Elias, Admoni, Osnat, Ludar, Hanna, London, Shira, Rath, Shoshana, German, Alina, Schwartz, Naama, Rakover, Yardena Tenenbauim

“…The incidence of congenital hypothyroidism (CH) has increased worldwide over the last decades mainly due to the lowering of screening thresholds, resulting in…”
Get full text

Cover Image by Zuckerman Levin, Nehama, Cohen, Meidan, Phillip, Moshe, Tenenbaum, Ariel, Koren, Ilana, Tenenbaum‐Rakover, Yardena, Admoni, Osnat, Hershkovitz, Eli, Haim, Alon, Mazor Aronovitch, Kineret, Zangen, David, Strich, David, Brener, Avivit, Yeshayahu, Yonatan, Schon, Yossi, Rachmiel, Marianna, Ben‐Ari, Tal, Levy‐Khademi, Floris, Tibi, Rami, Weiss, Ram, Lebenthal, Yael, Pinhas‐Hamiel, Orit, Shehadeh, Naim

Get full text

Youth‐onset type 2 diabetes in Israel: A national cohort by Zuckerman Levin, Nehama, Cohen, Meidan, Phillip, Moshe, Tenenbaum, Ariel, Koren, Ilana, Tenenbaum‐Rakover, Yardena, Admoni, Osnat, Hershkovitz, Eli, Haim, Alon, Mazor Aronovitch, Kineret, Zangen, David, Strich, David, Brener, Avivit, Yeshayahu, Yonatan, Schon, Yossi, Rachmiel, Marianna, Ben‐Ari, Tal, Levy‐Khademi, Floris, Tibi, Rami, Weiss, Ram, Lebenthal, Yael, Pinhas‐Hamiel, Orit, Shehadeh, Naim

“…Background Prevalence of youth‐onset type 2 diabetes (T2D) has increased worldwide, paralleling the rise in pediatric obesity. Occurrence and clinical…”
Get full text

Novel Microdeletions Affecting the GNAS Locus in Pseudohypoparathyroidism: Characterization of the Underlying Mechanisms by Garin, Intza, Elli, Francesca M, Linglart, Agnes, Silve, Caroline, de Sanctis, Luisa, Bordogna, Paolo, Pereda, Arrate, Clarke, Joe T. R, Kannengiesser, Caroline, Coutant, Regis, Tenebaum-Rakover, Yardena, Admoni, Osnat, de Nanclares, Guiomar Perez, Mantovani, Giovanna

“…Context: Pseudohypoparathyroidism type Ia (PHP1A) is a rare endocrine disorder characterized by hypocalcemia, hyperphosphatemia, multiple hormonal resistance,…”
Get full text

Long-Term Outcome of Patients with TPO Mutations by Tobias, Leraz, Elias-Assad, Ghadir, Khayat, Morad, Admoni, Osnat, Almashanu, Shlomo, Tenenbaum-Rakover, Yardena

“…Thyroid peroxidase (TPO) deficiency is the most common enzymatic defect causing congenital hypothyroidism (CH). We aimed to characterize the long-term outcome…”
Get full text

Non-transferrin bound labile plasma iron and iron overload in Sickle Cell Disease: a comparative study between Sickle Cell Disease and β thalassemic patients by Koren, Ariel, Fink, Daniel, Admoni, Osnat, Tennenbaum-Rakover, Yardena, Levin, Carina

“…Background:  Blood transfusions are the standard of care in β thalassemia and transfusions are also indicated in sickle cell disease (SCD) patients with…”
Get full text

The Coexistence of a Novel Inactivating Mutant Thyrotropin Receptor Allele with Two Thyroid Peroxidase Mutations: A Genotype-Phenotype Correlation by Sriphrapradang, Chutintorn, Tenenbaum-Rakover, Yardena, Weiss, Mia, Barkoff, Marla S, Admoni, Osnat, Kawthar, Dallasheh, Caltabiano, Gianluigi, Pardo, Leonardo, Dumitrescu, Alexandra M, Refetoff, Samuel

“…The presence of a TPO gene mutation in one allele does not aggravate the mild hyperthyrotropinemia of TSHR gene mutation present in the other. Context: TSH…”
Get full text

OR15-07 Novel Genes Involved in Sex Differentiation Identified by Whole-Exome Sequencing in a Cohort of Children with Disorders of Sex Development by Rakover, Yardena Tenenbaum, Admoni, Osnat, Assad, Ghadir Elias, London, Shira, Barhoum, Marie Noufi, Ludar, Hana, Almagor, Tal, Bertalan, Rita, Bashamboo, Anu, McElreavey, Prof, Kenneth

“…Abstract Background: Disorders of sex development (DSD) are classified as a congenital discrepancy between external genitalia, gonadal and chromosomal sex…”
Get full text

Hyperandrogenism in carriers of CYP21 mutations: the role of genotype by Admoni, Osnat, Israel, Shosh, Lavi, Idit, Gur, Michal, Tenenbaum-Rakover, Yardena

“…Summary Objective  It has been hypothesized that carriers of CYP21 mutations are at increased risk of developing clinically evident hyperandrogenism. In the…”
Get full text

Trends in the incidence of type 1 diabetes among Jews and Arabs in Israel by Blumenfeld, Orit, Dichtiar, Rita, Shohat, Tamy

“…Objective To assess the trends in the incidence of type 1 diabetes between 1997 and 2010 among 0–17‐yr‐old Israeli Jews and Arabs compared with global trends…”
Get full text

Non Transferrin Bound Labile Plasma Iron and Iron Overload in Sickle Cell Disease: a Comparative Study Between Sickle Cell Disease and β Thalassemic Patients by Koren, Ariel, Fink, Daniel, Admoni, Osnat, Tennenbaum-Rakover, Yardena, Levin, Carina

“…Abstract 4625 Blood transfusions are the standard of care in β thalassemia and transfusions are also indicated in Sickle Cell Disease (SCD) patients with…”
Get full text