Patricia Momigliano-Richiardi

Patricia Momigliano-Richiardi

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Patricia Momigliano-Richiardi

Patricia Momigliano-Richiardi

Publications by authors named "Patricia Momigliano-Richiardi"

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21Publications

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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

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

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

Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population.

J Neurol Sci 2007 Jul 25;258(1-2):123-7. Epub 2007 Apr 25.

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

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http://dx.doi.org/10.1016/j.jns.2007.03.009DOI Listing
July 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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http://dx.doi.org/10.2165/00129785-200202010-00004DOI Listing
July 2002