Mara Giordano

Mara Giordano

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Mara Giordano

Mara Giordano

Publications by authors named "Mara Giordano"

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39Publications

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Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood.

Urology 2019 Jul 18;129:68-70. Epub 2019 Apr 18.

Department of Health Sciences, Università del Piemonte Orientale, Novara, Italy.

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http://dx.doi.org/10.1016/j.urology.2019.04.008DOI Listing
July 2019

Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies.

BMC Med Genomics 2019 01 9;12(1). Epub 2019 Jan 9.

Laboratory of Human Genetics, Department of Health Sciences, Università del Piemonte Orientale, Via Solaroli 17, 28100, Novara, Italy.

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http://dx.doi.org/10.1186/s12920-018-0445-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327496PMC
January 2019

Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity.

Pediatr Res 2018 02 6;83(2):438-444. Epub 2017 Dec 6.

Division of Pediatrics, Department of Health Sciences, University of Piemonte Orientale, Novara, Italy.

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http://dx.doi.org/10.1038/pr.2017.247DOI Listing
February 2018

An intragenic deletion within intron 7 in a boy with short stature and speech delay: A case report.

SAGE Open Med Case Rep 2017 15;5:2050313X17693967. Epub 2017 Feb 15.

Internal Medicine and Therapeutics Department, Paediatric and Adolescent Unit, University of Pavia-Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

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http://dx.doi.org/10.1177/2050313X17693967DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5317034PMC
February 2017

Genetic causes of isolated and combined pituitary hormone deficiency.

Authors:
Mara Giordano

Best Pract Res Clin Endocrinol Metab 2016 Dec 15;30(6):679-691. Epub 2016 Oct 15.

Department of Health Sciences, Laboratory of Human Genetics, University of Eastern Piedmont, Novara, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.beem.2016.09.005DOI Listing
December 2016

A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency.

Mol Cytogenet 2016 3;9:89. Epub 2016 Dec 3.

Internal Medicine and Therapeutics Department, Pediatric and Adolescent Unit, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

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http://molecularcytogenetics.biomedcentral.com/articles/10.1
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http://dx.doi.org/10.1186/s13039-016-0298-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5135744PMC
December 2016

Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease.

J Nephrol 2016 Jun 4;29(3):451-455. Epub 2016 Mar 4.

Laboratory of Genetics, Department of Health Sciences and IRCAD, University Piemonte Orientale, Novara, Italy.

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http://dx.doi.org/10.1007/s40620-016-0282-9DOI Listing
June 2016

Invasive meningococcal disease in three siblings with hereditary deficiency of the 8(th) component of complement: evidence for the importance of an early diagnosis.

Orphanet J Rare Dis 2016 05 17;11(1):64. Epub 2016 May 17.

Department of Pathophysiology and Transplantation, Internal Medicine, University of Milan, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1186/s13023-016-0448-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4869260PMC
May 2016

Variations in the high-mobility group-A2 gene (HMGA2) are associated with idiopathic short stature.

Pediatr Res 2016 Feb 4;79(2):258-61. Epub 2015 Nov 4.

Department of Health Sciences, Laboratory of Human Genetics, University of Eastern Piedmont, Novara and IRCAD (Interdisciplinary Research Center of Autoimmune Diseases), Novara, Italy.

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http://dx.doi.org/10.1038/pr.2015.225DOI Listing
February 2016

Hypomagnesemia and progressive chronic kidney disease: thinking of HNF1B and other genetic nephropathies.

Kidney Int 2015 Sep;88(3):641

Laboratory of Human Genetics, Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S21571716153221
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http://dx.doi.org/10.1038/ki.2015.187DOI Listing
September 2015

Effects of growth hormone (GH) therapy withdrawal on glucose metabolism in not confirmed GH deficient adolescents at final height.

PLoS One 2014 30;9(1):e87157. Epub 2014 Jan 30.

Division of Pediatrics, Department of Health Sciences, University of "Piemonte Orientale Amedeo Avogadro", Novara, Italy ; Endocrinology, Department of Clinical and Experimental Medicine, University of Piemonte Orientale, Novara, Italy ; I.C.O.S. (Interdisciplinary Center for Obesity Study), Novara, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0087157PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3907518PMC
September 2014

Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy.

Clin Transplant 2014 Sep 18;28(9):995-1003. Epub 2014 Jul 18.

Department of Translational Medicine and IRCAD, Nephrology and Kidney Transplantation, University of Eastern Piedmont, Novara, Italy.

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http://dx.doi.org/10.1111/ctr.12408DOI Listing
September 2014

Novel mutations in the GH gene (GH1) uncover putative splicing regulatory elements.

Endocrinology 2014 May 17;155(5):1786-92. Epub 2014 Mar 17.

Laboratory of Genetics (D.B., S.M., I.F., P.M.-R., M.G.), Department of Health Sciences, University of Eastern Piedmont and Interdisciplinary Research Center of Autoimmune Diseases, and Unit of Pediatrics (A.P., G.E.W., S.B., F.P., G.B.), Department of Health Sciences, University of Eastern Piedmont, 28100 Novara, Italy.

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http://dx.doi.org/10.1210/en.2013-2146DOI Listing
May 2014

Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis.

Nephrology (Carlton) 2014 Apr;19(4):202-9

Department of Translational Medicine, Nephrology and Transplantation, Hospital 'Maggiore della Carità', Novara, NO, Italy.

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http://dx.doi.org/10.1111/nep.12199DOI Listing
April 2014

Functional SNPs within the intron 1 of the PROP1 gene contribute to combined growth hormone deficiency (CPHD).

J Clin Endocrinol Metab 2012 Sep 28;97(9):E1791-7. Epub 2012 Jun 28.

Laboratory of Human Genetics, Department of Health Sciences, Eastern Piedmont University, 28100 Novara, Italy.

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http://dx.doi.org/10.1210/jc.2012-1527DOI Listing
September 2012

The case of the solitary sick kidney.

Kidney Int 2010 Feb;77(3):257-8; author reply 258

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http://dx.doi.org/10.1038/ki.2009.450DOI Listing
February 2010

A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.

J Clin Endocrinol Metab 2009 Oct 21;94(10):3939-47. Epub 2009 Jul 21.

Laboratory of Human Genetics, Department of Medical Sciences and Interdisciplinary Research Center of Autoimmune Diseases, University of Eastern Piedmont, 28100 Novara, Italy.

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http://dx.doi.org/10.1210/jc.2009-0833DOI Listing
October 2009

ICOS gene haplotypes correlate with IL10 secretion and multiple sclerosis evolution.

J Neuroimmunol 2007 May 3;186(1-2):193-8. Epub 2007 May 3.

Interdisciplinary Research Center of Autoimmune Diseases and Department of Medical Sciences, "A. Avogadro" University of Eastern Piedmont, Novara, Italy.

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http://dx.doi.org/10.1016/j.jneuroim.2007.03.022DOI Listing
May 2007

A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity.

Mol Cell Endocrinol 2006 Apr 6;249(1-2):51-7. Epub 2006 Mar 6.

Laboratorio di Genetica Umana, Dipartimento di Scienze Mediche and IRCAD, Università del Piemonte Orientale, Novara, Italy.

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http://dx.doi.org/10.1016/j.mce.2006.01.006DOI Listing
April 2006

A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency.

J Clin Endocrinol Metab 2006 Mar 20;91(3):980-6. Epub 2005 Dec 20.

Dipartimento di Scienze Mediche, Via Solaroli 17, 28100 Novara, Italy.

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http://dx.doi.org/10.1210/jc.2005-1703DOI Listing
March 2006

Osteopontin gene haplotypes correlate with multiple sclerosis development and progression.

J Neuroimmunol 2005 Jun 25;163(1-2):172-8. Epub 2005 Apr 25.

Interdisciplinary Research Center of Autoimmune Diseases (IRCAD) and Department of Medical Sciences, A. Avogadro University of Eastern Piedmont, via Solaroli 17, I-28100 Novara, Italy.

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http://dx.doi.org/10.1016/j.jneuroim.2005.02.020DOI Listing
June 2005

Maternal effect in multiple sclerosis.

Lancet 2004 May;363(9423):1748-9

Department of Medical Sciences and Interdisciplinary Research Centre on Autoimmune Diseases (IRCAD), Eastern Piedmont University, 28100 Novara, Italy.

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http://dx.doi.org/10.1016/S0140-6736(04)16336-8DOI Listing
May 2004

Genetics of multiple sclerosis: linkage and association studies.

Am J Pharmacogenomics 2002 ;2(1):37-58

Dipartimento di Scienze Mediche, Università del Piemonte Orientale Amedeo Avogadro, Via Solaroli 17, 28100 Novara, Italy.

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July 2002