H. Shalev

发表

Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.

N. Gray, A. Wright, X. Shu, 2012, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Erythropoietin deficiency causes anemia in nephrotic children with normal kidney function.

D. Raveh, Y. Frishberg, H. Shalev, 2001, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia

V. Sheffield, R. Carmi, D. Landau, 2002, Nature Genetics.

Daytime Urinary Frequency in Children

H. Shalev, N. Watemberg, 1994, Clinical pediatrics.

Pediatric chronic kidney disease rates in Southern Israel are higher than reported

D. Landau, H. Shalev, R. Schreiber, 2013, F1000Research.

Familial steroid-sensitive nephrotic syndrome in Southern Israel: clinical and genetic observations

D. Geiger, D. Landau, H. Shalev, 2007, Pediatric Nephrology.

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

William J. Astle, Sri V. V. Deevi, Matthew C. Sims, 2020, medRxiv.

The neonatal variant of Bartter syndrome and deafness: preservation of renal function.

D. Landau, H. Shalev, L. Kachko, 2003, Pediatrics.

Possible oxidative stress involvement in congenital dyserythropoietic anemia type 1.

N. Meyerstein, H. Shalev, J. Kapelushnik, 2001, The hematology journal : the official journal of the European Haematology Association.

A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia

H. Tamary, H. Shalev, J. Kapelushnik, 2013, European journal of haematology.

Hypocholesterolemia in chronic anemias with increased erythropoietic activity

H. Tamary, H. Shalev, J. Kapelushnik, 2007, American journal of hematology.

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

William J. Astle, Sri V. V. Deevi, Matthew C. Sims, 2020, medRxiv.

High levels of soluble serum hemojuvelin in patients with congenital dyserythropoietic anemia type I

D. Swinkels, H. Tamary, H. Shalev, 2011, European journal of haematology.

Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I.

D. Swinkels, Jeffery L. Miller, H. Tamary, 2008, Blood.

Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome.

O. Birk, D. Landau, H. Shalev, 2003, The Journal of pediatrics.

congenital dyserythropoietic anemia type I Elevated growth differentiation factor 15 expression in patients with

D. Swinkels, Jeffery L. Miller, H. Tamary, 2013 .

TRPM6 and Hypomagnesaemia/Hypocalcaemia

D. Landau, H. Shalev, 2014 .

Persistent Pulmonary Hypertension of the Newborn Associated With Severe Congenital Anemia of Various Etiologies

D. Landau, H. Shalev, J. Kapelushnik, 2015, Journal of pediatric hematology/oncology.

Genetic kidney diseases in the pediatric population of southern Israel

D. Landau, H. Shalev, Gal Finer, 2006, Pediatric Nephrology.

Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.

O. Birk, B. Markus, I. Shelef, 2010, American journal of human genetics.

No response to recombinant human erythropoietin therapy in patients with congenital dyserythropoietic anemia type I.

H. Tamary, H. Shalev, R. Zaizov, 1999, Pediatric hematology and oncology.

Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension of the newborn.

H. Tamary, H. Shalev, J. Kapelushnik, 2000, The Journal of pediatrics.

Clinical presentation and outcome in primary familial hypomagnesaemia

M. Phillip, R. Carmi, D. Landau, 1998, Archives of disease in childhood.

Normal Hemoglobin at the Age of 1 Year Does not Protect Infants From Developing Iron Deficiency Anemia in the Second Year of Life

H. Shalev, J. Urkin,, A. Moser, 2011, Journal of pediatric hematology/oncology.

Pregnancy outcome in congenital dyserythropoietic anemia type I

H. Tamary, E. Sheiner, H. Shalev, 2008, European journal of haematology.

Familial hemolytic uremic syndrome associated with complement factor H deficiency.

D. Landau, Y. Segev, H. Shalev, 2001, The Journal of pediatrics.

Bladder function impairment in aquaporin-2 defective nephrogenic diabetes insipidus.

D. Landau, N. Knoers, H. Shalev, 2004, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Urine metabolomics reveals novel physiologic functions of human aldehyde oxidase and provides biomarkers for typing xanthinuria

D. Landau, H. Shalev, D. Watson, 2012, Metabolomics.

Proton pump inhibitors use suppresses iron absorption in congenital dyserythropoietic anemia

A. A. Quider, H. Shalev, J. Kapelushnik, 2016, Pediatric hematology and oncology.

Transient severe metastatic calcification in acute renal failure

D. Landau, H. Shalev, Hanna Krymko, 2006, Pediatric nephrology (Berlin, West).

Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H

R. Carmi, D. Landau, H. Shalev, 1998, Pediatric Nephrology.

Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects

H. Mandel, J. Graessler, F. Bittner, 2021, Biomedicines.

Pediatric urolithiasis in southern Israel: the role of uricosuria

D. Landau, H. Shalev, D. Tovbin, 2000, Pediatric Nephrology.

An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro‐Asian stone‐forming belt

D. Steinberg, I. Krause, H. Shalev, 2019, JIMD reports.

Glycoconjugate abnormalities in patients with congenital dyserythropoietic anaemia type I, II and III

A. Wåhlin, H. Tamary, H. Shalev, 2001, British journal of haematology.

Localization of the gene for congenital dyserythropoietic anemia type I to a <1-cM interval on chromosome 15q15.1-15.3.

B. Bonné-Tamir, H. Tamary, H. Shalev, 1998, American journal of human genetics.

SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome

G. Rutter, R. Zarivach, O. Birk, 2017, Brain : a journal of neurology.

Murine typhus is a common cause of febrile illness in Bedouin children in Israel

H. Shalev, P. Yagupsky, Rotkane Raissa, 2006, Scandinavian journal of infectious diseases.

Upper airway obstruction-related sleep apnea in a child with thalassemia intermedia.

H. Tamary, H. Shalev, J. Kapelushnik, 2001, Journal of pediatric hematology/oncology.

Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis

H. Tamary, H. Shalev, J. Kapelushnik, 2017, European journal of haematology.

Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.

J. Beckmann, D. Lancet, H. Tamary, 2002, American journal of human genetics.

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

C. Walsh, G. Rechavi, A. Simon, 2006, Annals of neurology.

Inherited thrombocytopenia associated with mutation of UDP‐galactose‐4‐epimerase (GALE)

T. Walsh, M. King, S. Pierce, 2018, Human molecular genetics.

Familial steroid-sensitive nephrotic syndrome in Southern Israel: clinical and genetic observations

D. Geiger, D. Landau, H. Shalev, 2007, Pediatric Nephrology.

Neonatal manifestations of congenital dyserythropoietic anemia type I.

H. Tamary, H. Shalev, R. Zaizov, 1997, The Journal of pediatrics.

CATSPER2, a human autosomal nonsyndromic male infertility gene

J. Beckmann, D. Lancet, H. Tamary, 2003, European Journal of Human Genetics.

A clinical and molecular study of a Bedouin family with dysmegakaryopoiesis, mild anemia, and neutropenia cured by bone marrow transplantation

A. Cohen, H. Tamary, H. Shalev, 2003, European journal of haematology.

Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I.

H. Tamary, H. Shalev, E. Shinar, 1996, Blood.

Protein C and protein S in pediatric nephrotic patients.

D. Landau, H. Shalev, T. Yermiahu, 1996, Sangre.

A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred.

D. Landau, O. Birk, H. Shalev, 2004, Molecular genetics and metabolism.

Infantile bilateral striatal necrosis maps to chromosome 19q

C. Walsh, M. Shohat, H. Shalev, 2004, Neurology.

Accentuated hyperparathyroidism in type II Bartter syndrome

D. Landau, H. Shalev, Evgenia Gurevich, 2016, Pediatric Nephrology.

Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I

H. Tamary, H. Shalev, A. Levitas, 2017, European journal of haematology.

ANTI-D EXERTS A VERY EARLY RESPONSE IN CHILDHOOD ACUTE IDIOPATHIC THROMBOCYTOPENIC PURPURA

H. Shalev, J. Kapelushnik, A. Moser, 2002, Pediatric hematology and oncology.

Nephrocalcinosis in pseudohypoaldosteronism and the effect of indomethacin therapy.

H. Shalev, O. Abramson, M. Ohali, 1994, The Journal of pediatrics.

A Comprehensive Study of the Neonatal Manifestations of Congenital Dyserythropoietic Anemia Type I

H. Tamary, H. Shalev, J. Kapelushnik, 2004, Journal of pediatric hematology/oncology.

Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria.

H. Shalev, H. Peretz, D. Levartovsky, 2007, Molecular genetics and metabolism.

Prevalence of left ventricular hypertrabeculation/noncompaction among patients with congenital dyserythropoietic anemia Type 1 (CDA1).

A. Shaleṿ, H. Shalev, A. Levitas, 2020, International journal of cardiology.

Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in young adults

H. Tamary, I. Yaniv, H. Shalev, 2002, European journal of haematology.

Treatment of transfusion‐dependent congenital dyserythropoietic anemia Type I patients with pegylated interferon alpha‐2a

H. Shalev, J. Kapelushnik, Y. Fruchtman, 2020, European journal of haematology.

Inherited renal tubular dysgenesis may not be universally fatal

O. Gribouval, M. Gubler, D. Landau, 2010, Pediatric Nephrology.

A case of mirtazapine-induced spontaneous orgasms in a female patient

H. Shalev, I. Ben-Zion, A. Shiber, 2009, Journal of psychopharmacology.

A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I

D. Landau, O. Birk, H. Shalev, 2019, Annals of Human Genetics.

Prenatal diagnosis of bartter syndrome

R. Carmi, I. Meizner, H. Shalev, 1994, Prenatal diagnosis.

congenital dyserythropoietic anemia type I Clinical features and studies of erythropoiesis in Israeli Bedouins with

H. Shalev, L. Shalmon, D. Luria, 2011 .

Oligohydramnion, renal failure and no pulmonary hypoplasia in glomerulocystic kidney disease

D. Landau, H. Shalev, E. Maor, 2000, Pediatric Nephrology.

Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.

H. Shalev, G. Beck, Daniel Landau, 1999, American journal of human genetics.