Y. Tenenbaum‐Rakover

发表

Increased salt appetite in patients with congenital adrenal hyperplasia 21-hydroxylase deficiency.

M. Leshem, A. Kochli, Y. Tenenbaum‐Rakover, 2005, American journal of physiology. Regulatory, integrative and comparative physiology.

A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor‐1 (IGF1)

V. Hwa, M. Khayat, Y. Tenenbaum‐Rakover, 2013, Clinical endocrinology.

A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow‐up from infancy to adulthood

S. Amselem, M. Sobrier, Y. Tenenbaum‐Rakover, 2011, Clinical endocrinology.

Growth hormone deficiency in children with antenatal Bartter syndrome

A. Koren, W. Sakran, Y. Tenenbaum‐Rakover, 2019, Journal of pediatric endocrinology & metabolism : JPEM.

High Prevalence of Hearing Impairment in Primary Congenital Hypothyroidism

S. Almashanu, D. Bercovich, R. Spiegel, 2020, European Thyroid Journal.

Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder

R. Gibbs, E. Boerwinkle, D. Muzny, 2014, Pediatric diabetes.

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure

D. Bercovich, Dvir Dahary, S. Gulsuner, 2015, Journal of Medical Genetics.

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism

Oded Edelheit, A. Hanukoglu, Israel Hanukoglu, 2005, Clinical endocrinology.

Case Report: Neonatal Diabetes Mellitus Caused by a Novel GLIS3 Mutation in Twins

E. De Franco, Y. Tenenbaum‐Rakover, M. Barhoum, 2018, Frontiers in Endocrinology.

Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.

S. Refetoff, H. Grasberger, L. Montanelli, 2009, The Journal of clinical endocrinology and metabolism.

The evolving role of whole-exome sequencing in the management of disorders of sex development

K. McElreavey, C. Sultan, A. Bashamboo, 2021, Endocrine connections.

ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency.

E. Sprecher, R. Spiegel, S. Shalev, 2010, European journal of endocrinology.

Prevalence of early and late prematurity is similar among pediatric type 1 diabetes patients and the general population

S. Shalitin, O. Eyal, M. Rachmiel, 2018, Diabetes/metabolism research and reviews.

Congenital Hyperreninemic Hypoaldosteronism in Israel: Sequence Analysis of CYP11B2 Gene

E. Leshinsky‐Silver, D. Lev, Z. Landau, 2006, Hormone Research in Paediatrics.

Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54.

N. de Roux, Y. Tenenbaum‐Rakover, O. Admoni, 2007, The Journal of clinical endocrinology and metabolism.

Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

A. Eliakim, B. Glaser, L. Aguilar-Bryan, 2004, The Journal of clinical endocrinology and metabolism.

IRS2 variants and syndromes of severe insulin resistance

I. Barroso, R. Temple, W. Bottomley, 2009, Diabetologia.

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

T. Strom, G. Eckstein, P. Lichtner, 2006, American journal of human genetics.

Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy

Inbal Halabi, Y. Tenenbaum‐Rakover, S. Peleg, 2021, Frontiers in Endocrinology.

Primary Ovarian Insufficiency Nationwide Incidence Rate and Etiology Among Israeli Adolescents.

A. Eliakim, Y. Shoenfeld, O. Eyal, 2020, The Journal of adolescent health : official publication of the Society for Adolescent Medicine.

Approach to Subclinical Hypothyroidism in Children

Y. Tenenbaum‐Rakover, Y. Tenenbaum-Rakover, 2013 .

Neonatal hyperthyrotropinemia: population characteristics, diagnosis, management and outcome after cessation of therapy

O. Pinhas-Hamiel, A. Hanukoglu, A. Zung, 2010, Clinical endocrinology.

Long-Term Follow-Up and Outcomes of Autoimmune Thyroiditis in Childhood

Shoshana R Rath, Y. Tenenbaum‐Rakover, O. Admoni, 2020, Frontiers in Endocrinology.

A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.

T. Jap, C. Ding, M. Levine, 2009, The Journal of clinical endocrinology and metabolism.

Hyperandrogenism in carriers of CYP21 mutations: the role of genotype

I. Lavi, S. Israel, Y. Tenenbaum‐Rakover, 2006, Clinical endocrinology.

Ghrelin and growth hormone secretagogue receptor (GHSR) genes are not commonly involved in growth or weight abnormalities in an Israeli pediatric population

M. Khayat, S. Shalev, Y. Tenenbaum‐Rakover, 2012, Journal of pediatric endocrinology & metabolism : JPEM.

Hypercalciuria in Familial Hyperkalemia and Hypertension with KLHL3 Mutations

E. Holtzman, H. Mayan, Z. Farfel, 2015, Nephron.

Birth during the moderate weather seasons is associated with early onset of type 1 diabetes in the Mediterranean area

S. Shalitin, O. Eyal, M. Rachmiel, 2020 .

Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis

J. Sack, C. Ris-Stalpers, S. Refetoff, 2007, Clinical endocrinology.

Growth Hormone Receptor Sequence Changes Do Not Play a Role in Determining Height in Children with Idiopathic Short Stature

S. Shalev, Y. Tenenbaum‐Rakover, Y. Hujeirat, 2006, Hormone Research in Paediatrics.

Combined Gestational Age- and Birth Weight-Adjusted Cutoffs for Newborn Screening of Congenital Adrenal Hyperplasia.

S. Almashanu, A. Eliakim, B. Pode-Shakked, 2019, The Journal of clinical endocrinology and metabolism.

Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene.

I. Lavi, Z. Zadik, Y. Tenenbaum‐Rakover, 2007, The Journal of clinical endocrinology and metabolism.

Control of childhood congenital adrenal hyperplasia and sleep activity and quality with morning or evening glucocorticoid therapy.

Z. Hochberg, G. Pillar, Y. Tenenbaum‐Rakover, 2008, The Journal of clinical endocrinology and metabolism.

The need to revise the cut-off level for the diagnosis of GH deficiency in children.

Y. Tenenbaum‐Rakover, 2008, Pediatric endocrinology reviews : PER.

Expanding the clinical spectrum of SLC29A3 gene defects.

Y. Crow, W. Newman, R. Spiegel, 2010, European journal of medical genetics.

The unique clinical spectrum of maturity onset diabetes of the young type 3.

M. Vaxillaire, A. Tenenbaum, E. Vaillant, 2018, Diabetes Research and Clinical Practice.

The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects.

V. Hwa, P. Fang, R. Rosenfeld, 2011, The Journal of clinical endocrinology and metabolism.

Androgen Receptor CAG Repeat Length in Relation to Phenotype Among Females with Nonclassical 21-Hydroxylase Deficiency

S. Ben-Shachar, A. Lifshitz, M. Fraenkel, 2014, Hormone and Metabolic Research.

Adult height of subjects with nonclassical 21‐hydroxylase deficiency

S. Shalitin, O. Eyal, S. Israel, 2013, Acta paediatrica.

Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.

D. Bercovich, D. Bernard, Y. Tenenbaum‐Rakover, 2016, Thyroid : official journal of the American Thyroid Association.

A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis.

S. Refetoff, J. van Sande, H. Grasberger, 2007, The Journal of clinical endocrinology and metabolism.

Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.

S. Almashanu, D. Bercovich, S. Refetoff, 2015, Thyroid : official journal of the American Thyroid Association.

Youth‐onset type 2 diabetes in Israel: A national cohort

M. Phillip, M. Rachmiel, K. Mazor Aronovitch, 2022, Pediatric diabetes.

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

D. Bercovich, S. Amselem, M. Legendre, 2019, Front. Endocrinol..

[IS THE PREVALENCE OF CHILDHOOD OBESITY IN ISRAEL SLOWING DOWN?].

N. Schwartz, Y. Tenenbaum‐Rakover, Tal Almagor, 2015, Harefuah.

Ketoacidosis in Newly Diagnosed Type 1 Diabetes in Children and Adolescents in Israel: Prevalence and Risk Factors.

O. Eyal, M. Rachmiel, Y. Tenenbaum‐Rakover, 2018, The Israel Medical Association journal : IMAJ.

The Clinical Spectrum of Thyrotropin Receptor Gene (TSHR) Mutations

Y. Tenenbaum‐Rakover, Y. Tenenbaum-Rakover, 2012 .

Maturity Onset Diabetes of the Young Type 2 (MODY2): Insight from an Extended Family.

J. Molnes, Y. Tenenbaum‐Rakover, Pål Rasmus Njølstad, 2021, Diabetes research and clinical practice.

Persistent Müllerian Duct Syndrome Caused by a Novel Mutation of an Anti-MüIlerian Hormone Receptor Gene: Case Presentation and Literature Review.

H. Kanety, Y. Tenenbaum‐Rakover, Ghadir Elias-Assad, 2016, Pediatric Endocrinology Reviews: diabetes, nutrition, metabolism.

Long-Term Outcome of Patients with TPO Mutations

S. Almashanu, M. Khayat, Y. Tenenbaum‐Rakover, 2021, Journal of clinical medicine.

Minimally invasive follicular thyroid carcinoma developed in dyshormonogenetic multinodular goiter due to thyroid peroxidase gene mutation.

Y. Tenenbaum‐Rakover, A. Ishay, J. Pohlenz, 2012, Thyroid : official journal of the American Thyroid Association.

The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.

L. Pardo, S. Refetoff, Chutintorn Sriphrapradang, 2011, The Journal of clinical endocrinology and metabolism.

Can Auxology, IGF-I and IGFBP-3 Measurements Followed by MRI and Genetic Tests Replace GH Stimulation Tests in the Diagnosis of GH Deficiency in Children?

M. Khayat, Y. Tenenbaum‐Rakover, Stavit Allon-Shalev, 2010, Journal of pediatric endocrinology & metabolism : JPEM.