Publications by authors named "Dov Tiosano"

42Publications

In Silico Structural and Biochemical Functional Analysis of a Novel Pathogenic Variant.

Int J Mol Sci 2020 Aug 14;21(16). Epub 2020 Aug 14.

Pediatric Endocrinology Unit, Ruth Rappaport Children's Hospital, Rambam Healthcare Campus, Haifa 352540, Israel.

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http://dx.doi.org/10.3390/ijms21165857DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7461554PMC
August 2020

Mitochondrial Dysfunction in Primary Ovarian Insufficiency.

Endocrinology 2019 10;160(10):2353-2366

Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio.

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https://academic.oup.com/endo/article/160/10/2353/5544515
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http://dx.doi.org/10.1210/en.2019-00441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760336PMC
October 2019

Reproductive history of patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.

Fertil Steril 2019 07 24;112(1):156-161. Epub 2019 Apr 24.

Department of Pediatrics, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.fertnstert.2019.02.028DOI Listing
July 2019

Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.

J Clin Endocrinol Metab 2017 08;102(8):2670-2677

Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114.

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http://dx.doi.org/10.1210/jc.2017-00395DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5546863PMC
August 2017

Is one diagnosis the whole story? patients with double diagnoses.

Am J Med Genet A 2016 09 8;170(9):2338-48. Epub 2016 Jun 8.

The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.

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http://dx.doi.org/10.1002/ajmg.a.37799DOI Listing
September 2016

Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes.

G3 (Bethesda) 2016 05 3;6(5):1251-66. Epub 2016 May 3.

Rappaport Family Faculty of Medicine, The Technion - Israel Institute of Technology, Haifa 30196, Israel, Haifa, Israel.

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http://dx.doi.org/10.1534/g3.115.026773DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856077PMC
May 2016

Duodenal Expression of 25 Hydroxyvitamin D3-1α-hydroxylase Is Higher in Adolescents Than in Children and Adults.

J Clin Endocrinol Metab 2015 Oct 20;100(10):3668-75. Epub 2015 Aug 20.

Pediatric Endocrinology (A.G., V.G., D.T.) and Pediatric Gastroenterology (R.S.), Meyer Children's Hospital, Rambam Health Care Campus, Haifa, Israel; Department of Pediatric Endocrinology and Diabetes (A.G.), Medical University of Silesia, Poland; Bone and Mineral Research Division (N.R.), HaEmeck Hospital. Afula, Israel; Gastroenterology Research Laboratory (A.D.) and Endocrinology Research Laboratory (D.B-Y.), Rambam Health Care Campus, Haifa, Israel; Department of Immunology (G.W.), Rappaport Family Institute for Research in the Medical Sciences, The Technion - Israel Institute of Technology, Haifa, Israel; Department of Civil Engineering (O.V.), Faculty of Engineering, Ariel University, Ariel, Israel; Department of Pediatrics (Y.W.), Tel-Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; and The Rappaport Faculty of Medicine (D.T., N.R., R.S.,), The Technion- Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1210/jc.2015-1483DOI Listing
October 2015

Evo-devo of Child Growth: The Role of Weaning in the Transition from Infancy to Childhood.

Crit Rev Food Sci Nutr 2016 ;56(6):887-95

b Pediatric Endocrinology Division, Meyer's Children's Hospital of Haifa, Rambam Medical Center, Rappaport Famility Faculty of Medicine and Research Insititute, Technion , Haifa , Israel.

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http://dx.doi.org/10.1080/10408398.2012.732623DOI Listing
January 2017

The beneficial effect of growth hormone treatment on islet mass in streptozotocin-treated mice.

Diabetes Metab Res Rev 2015 Jul 6;31(5):492-9. Epub 2015 Feb 6.

The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1002/dmrr.2631DOI Listing
July 2015

TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib).

J Bone Miner Res 2015 May;30(5):906-12

Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA; Endocrinology Unit, Department of Clinical and Experimental Medicine, University of Pisa, University Hospital of Pisa, Pisa, Italy.

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http://dx.doi.org/10.1002/jbmr.2408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4401615PMC
May 2015

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

Genet Med 2015 Aug 13;17(8):651-9. Epub 2014 Nov 13.

1] Harvard Reproductive Endocrine Sciences Center and the Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA [2] Department of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital (CHUV), Lausanne, Switzerland [3] Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1038/gim.2014.166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430466PMC
August 2015

Evidence of ERalpha and ERbeta selectivity and partial estrogen agonism in traditional Chinese medicine.

Reprod Biol Endocrinol 2014 Oct 10;12:97. Epub 2014 Oct 10.

Unité d'Endocrinologie Pédiatrique, CHU Arnaud de Villeneuve, Montpellier, France.

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http://dx.doi.org/10.1186/1477-7827-12-97DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4201695PMC
October 2014

A mutated vitamin D receptor in hereditary vitamin D-resistant rickets prevents induction of bronchial hyperreactivity and inflammation.

J Clin Endocrinol Metab 2014 Sep 2;99(9):E1610-6. Epub 2014 Jun 2.

Pediatric Pulmonary Unit (R.B.-Y., L.B., G.L., F.H.), Meyer Children's Hospital, Rambam Health Care Campus, The Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31092, Israel; Department of Pediatrics (A.G.), Soroka University Medical Center, Beer-Sheva 84895, Israel; Department of Pediatrics (Y.W.), Tel-Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 64239, Israel; and Pediatric Endocrinology Unit (D.T.), Meyer Children's Hospital, Rambam Health Care Campus, The Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31092, Israel.

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http://dx.doi.org/10.1210/jc.2014-1396DOI Listing
September 2014

Update on vitamin D during childhood.

Curr Opin Endocrinol Diabetes Obes 2014 Feb;21(1):51-5

aUnited States Department of Agriculture/Agricultural Research Service, Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA bPediatric Endocrinology, Rambam Healthcare Campus, Bruce Rappaport Faculty of Medicine, Technion, Haifa, Israel.

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http://dx.doi.org/10.1097/01.med.0000436252.53459.efDOI Listing
February 2014

Postzygotic HRAS mutation causing both keratinocytic epidermal nevus and thymoma and associated with bone dysplasia and hypophosphatemia due to elevated FGF23.

J Clin Endocrinol Metab 2014 Jan 20;99(1):E132-6. Epub 2013 Dec 20.

Division of Pediatric Endocrinology (V.G., D.T.), Department of Pediatrics B (S.T., R.Br.), Department of Dermatology (E.A.-H., R.Be.), Laboratory of Molecular Dermatology (M.I., R.Be.), Department of Radiology (R.S.), and Department of Pathology (D.H.), Meyer Children's Hospital, Rambam Health Care Campus, Haifa 33705, Israel; and Bruce Rappaport Faculty of Medicine (R.Br., R.Be., D.T.), Institute of Technology, Haifa 32000, Israel.

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http://dx.doi.org/10.1210/jc.2013-2813DOI Listing
January 2014

The role of vitamin D receptor in innate and adaptive immunity: a study in hereditary vitamin D-resistant rickets patients.

J Clin Endocrinol Metab 2013 Apr 12;98(4):1685-93. Epub 2013 Mar 12.

Division of Pediatric Endocrinology, Meyer Children's Hospital, Rambam Health Care Campus, Haifa, Israel.

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http://dx.doi.org/10.1210/jc.2012-3858DOI Listing
April 2013

Vitamin D: effects on childhood health and disease.

Nat Rev Endocrinol 2013 Mar 5;9(3):162-70. Epub 2013 Feb 5.

United States Department of Agriculture/Agriculture Research Service, Children's Nutrition Research Center Department of Pediatrics, Baylor College of Medicine, TX 77030, USA.

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http://dx.doi.org/10.1038/nrendo.2012.259DOI Listing
March 2013

Vitamin D action: lessons learned from hereditary 1,25-dihydroxyvitamin-D-resistant rickets patients.

Curr Opin Endocrinol Diabetes Obes 2012 Dec;19(6):452-9

Pediatric Endocrinology, Meyer Children's Hospital, Rambam Healthcare Campus, Haifa, Israel.

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http://pdfs.journals.lww.com/co-endocrinology/2012/12000/Vit
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http://dx.doi.org/10.1097/MED.0b013e32835a3415DOI Listing
December 2012

Calcium absorption, kinetics, bone density, and bone structure in patients with hereditary vitamin D-resistant rickets.

J Clin Endocrinol Metab 2011 Dec 14;96(12):3701-9. Epub 2011 Sep 14.

Division of Pediatric Endocrinology, Meyer Children's Hospital, Rambam Health Care Campus, Haifa 31096, Israel.

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http://dx.doi.org/10.1210/jc.2011-1432DOI Listing
December 2011

Fibroblast growth factor-23 and phosphorus metabolism.

Authors:
Dov Tiosano

Endocr Dev 2011 22;21:67-77. Epub 2011 Aug 22.

Pediatric Endocrinology, Meyer Children's Hospital, Rambam Medical Center, Rappaport Family Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1159/000328129DOI Listing
December 2011

The renin-angiotensin system, blood pressure, and heart structure in patients with hereditary vitamin D-resistance rickets (HVDRR).

J Bone Miner Res 2011 Sep;26(9):2252-60

Division of Pediatric Endocrinology, Meyer Children's Hospital, Rambam Health Care Campus, Haifa, Israel.

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http://dx.doi.org/10.1002/jbmr.431DOI Listing
September 2011

Ovarian adrenal rest tumor in a congenital adrenal hyperplasia patient with adrenocorticotropin hypersecretion following adrenalectomy.

Horm Res Paediatr 2010 1;74(3):223-8. Epub 2010 May 1.

Meyer Children's Hospital, Rambam Medical Center, Haifa, Israel.

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http://dx.doi.org/10.1159/000295722DOI Listing
January 2011

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

Hum Mol Genet 2010 May 27;19(10):2028-38. Epub 2010 Feb 27.

Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Headington, Oxford OX3 7LJ, UK.

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http://dx.doi.org/10.1093/hmg/ddq084DOI Listing
May 2010

Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.

Am J Hum Genet 2010 Feb 4;86(2):267-72. Epub 2010 Feb 4.

Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S000292971000007
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http://dx.doi.org/10.1016/j.ajhg.2010.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820166PMC
February 2010

Hypophosphatemia: the common denominator of all rickets.

J Bone Miner Metab 2009 6;27(4):392-401. Epub 2009 Jun 6.

Meyer Children's Hospital, Rambam Medical Center, POB 9602, 31096, Haifa, Israel.

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http://dx.doi.org/10.1007/s00774-009-0079-1DOI Listing
September 2009

Metabolic evidence for impaired 17alpha-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity.

Eur J Endocrinol 2008 Mar;158(3):385-92

Pediatric Endocrinology, Metabolic Biochemistry Laboratory and Genetics Institute, Rambam Medical Center, Meyer Children's Hospital, Technion-Israel Institute of Technology, 9602 Haifa, Israel.

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http://dx.doi.org/10.1530/EJE-07-0712DOI Listing
March 2008

Recombinant thyrotropin in the diagnosis of congenital hypothyroidism.

J Clin Endocrinol Metab 2007 Apr 6;92(4):1434-7. Epub 2007 Feb 6.

Division of Endocrinology, Meyer Children's Hospital, POB 6092, and Technion-Israel Institute of Technology, Haifa 31096, Israel.

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http://dx.doi.org/10.1210/jc.2006-2134DOI Listing
April 2007

A girl with a (wrongly-located) golden heart.

J Pediatr Gastroenterol Nutr 2006 Feb;42(2):243

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https://insights.ovid.com/crossref?an=00005176-200602000-000
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http://dx.doi.org/10.1097/01.mpg.0000172882.54924.52DOI Listing
February 2006

CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding.

J Biol Chem 2003 Dec 22;278(49):48563-9. Epub 2003 Sep 22.

Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390-8857, USA.

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http://dx.doi.org/10.1074/jbc.M307586200DOI Listing
December 2003

11 beta-Hydroxysteroid dehydrogenase activity in hypothalamic obesity.

J Clin Endocrinol Metab 2003 Jan;88(1):379-84

Departments of Pediatrics, Meyer Children's Hospital, Haifa 31096, Israel.

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http://dx.doi.org/10.1210/jc.2002-020511DOI Listing
January 2003

Severe hypersomnolence after pituitary/hypothalamic surgery in adolescents: clinical characteristics and potential mechanisms.

Pediatrics 2002 Dec;110(6):e74

Department of Pediatrics A and Sleep Laboratory, Rambam Medical Center and Technion, Haifa, Israel.

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http://dx.doi.org/10.1542/peds.110.6.e74DOI Listing
December 2002