Paola Concolino

Paola Concolino

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Paola Concolino

Publications by authors named "Paola Concolino"

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Iodothyronine deiodinases and reduced sensitivity to thyroid hormones.

Front Biosci (Landmark Ed) 2020 Jan 1;25:201-228. Epub 2020 Jan 1.

Endocrinology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma - Università Cattolica del Sacro CuoreLargo Gemelli 8, I - 00167, Roma, Italy,

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January 2020

Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis of 21-Hydroxylase Deficiency.

Authors:
Paola Concolino

Mol Diagn Ther 2019 Oct;23(5):563-567

Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168, Rome, Italy.

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http://dx.doi.org/10.1007/s40291-019-00415-zDOI Listing
October 2019

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Authors:
Michael T Parsons Emma Tudini Hongyan Li Eric Hahnen Barbara Wappenschmidt Lidia Feliubadaló Cora M Aalfs Simona Agata Kristiina Aittomäki Elisa Alducci María Concepción Alonso-Cerezo Norbert Arnold Bernd Auber Rachel Austin Jacopo Azzollini Judith Balmaña Elena Barbieri Claus R Bartram Ana Blanco Britta Blümcke Sandra Bonache Bernardo Bonanni Åke Borg Beatrice Bortesi Joan Brunet Carla Bruzzone Karolin Bucksch Giulia Cagnoli Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Gabriele L Capone Sandrine M Caputo Ileana Carnevali Estela Carrasco Virginie Caux-Moncoutier Pietro Cavalli Giulia Cini Edward M Clarke Paola Concolino Elisa J Cops Laura Cortesi Fergus J Couch Esther Darder Miguel de la Hoya Michael Dean Irmgard Debatin Jesús Del Valle Capucine Delnatte Nicolas Derive Orland Diez Nina Ditsch Susan M Domchek Véronique Dutrannoy Diana M Eccles Hans Ehrencrona Ute Enders D Gareth Evans Chantal Farra Ulrike Faust Ute Felbor Irene Feroce Miriam Fine William D Foulkes Henrique C R Galvao Gaetana Gambino Andrea Gehrig Francesca Gensini Anne-Marie Gerdes Aldo Germani Jutta Giesecke Viviana Gismondi Carolina Gómez Encarna B Gómez Garcia Sara González Elia Grau Sabine Grill Eva Gross Aliana Guerrieri-Gonzaga Marine Guillaud-Bataille Sara Gutiérrez-Enríquez Thomas Haaf Karl Hackmann Thomas V O Hansen Marion Harris Jan Hauke Tilman Heinrich Heide Hellebrand Karen N Herold Ellen Honisch Judit Horvath Claude Houdayer Verena Hübbel Silvia Iglesias Angel Izquierdo Paul A James Linda A M Janssen Udo Jeschke Silke Kaulfuß Katharina Keupp Marion Kiechle Alexandra Kölbl Sophie Krieger Torben A Kruse Anders Kvist Fiona Lalloo Mirjam Larsen Vanessa L Lattimore Charlotte Lautrup Susanne Ledig Elena Leinert Alexandra L Lewis Joanna Lim Markus Loeffler Adrià López-Fernández Emanuela Lucci-Cordisco Nicolai Maass Siranoush Manoukian Monica Marabelli Laura Matricardi Alfons Meindl Rodrigo D Michelli Setareh Moghadasi Alejandro Moles-Fernández Marco Montagna Gemma Montalban Alvaro N Monteiro Eva Montes Luigi Mori Lidia Moserle Clemens R Müller Christoph Mundhenke Nadia Naldi Katherine L Nathanson Matilde Navarro Heli Nevanlinna Cassandra B Nichols Dieter Niederacher Henriette R Nielsen Kai-Ren Ong Nicholas Pachter Edenir I Palmero Laura Papi Inge Sokilde Pedersen Bernard Peissel Pedro Perez-Segura Katharina Pfeifer Marta Pineda Esther Pohl-Rescigno Nicola K Poplawski Berardino Porfirio Anne S Quante Juliane Ramser Rui M Reis Françoise Revillion Kerstin Rhiem Barbara Riboli Julia Ritter Daniela Rivera Paula Rofes Andreas Rump Monica Salinas Ana María Sánchez de Abajo Gunnar Schmidt Ulrike Schoenwiese Jochen Seggewiß Ares Solanes Doris Steinemann Mathias Stiller Dominique Stoppa-Lyonnet Kelly J Sullivan Rachel Susman Christian Sutter Sean V Tavtigian Soo H Teo Alex Teulé Mads Thomassen Maria Grazia Tibiletti Marc Tischkowitz Silvia Tognazzo Amanda E Toland Eva Tornero Therese Törngren Sara Torres-Esquius Angela Toss Alison H Trainer Katherine M Tucker Christi J van Asperen Marion T van Mackelenbergh Liliana Varesco Gardenia Vargas-Parra Raymonda Varon Ana Vega Ángela Velasco Anne-Sophie Vesper Alessandra Viel Maaike P G Vreeswijk Sebastian A Wagner Anke Waha Logan C Walker Rhiannon J Walters Shan Wang-Gohrke Bernhard H F Weber Wilko Weichert Kerstin Wieland Lisa Wiesmüller Isabell Witzel Achim Wöckel Emma R Woodward Silke Zachariae Valentina Zampiga Christine Zeder-Göß KConFab Investigators Conxi Lázaro Arcangela De Nicolo Paolo Radice Christoph Engel Rita K Schmutzler David E Goldgar Amanda B Spurdle

Hum Mutat 2019 09;40(9):1557-1578

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/humu.23818DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6772163PMC
September 2019

Detection of large genomic rearrangements in breast and ovarian cancer patients: an overview of the current methods.

Expert Rev Mol Diagn 2019 Sep 28;19(9):795-802. Epub 2019 Aug 28.

Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università Federico II , Napoli , Italia.

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http://dx.doi.org/10.1080/14737159.2019.1657011DOI Listing
September 2019

and Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.

Int J Mol Sci 2019 Jul 12;20(14). Epub 2019 Jul 12.

Dipartimento Scienze di Laboratorio e Infettivologiche, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, 00168 Rome, Italy.

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http://dx.doi.org/10.3390/ijms20143442DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678297PMC
July 2019

Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).

Mol Diagn Ther 2019 Jun;23(3):353-368

Università Cattolica del Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1007/s40291-019-00399-wDOI Listing
June 2019

First Case of Mature Teratoma and Yolk Sac Testis Tumor Associated to Inherited MEN-1 Syndrome.

Front Endocrinol (Lausanne) 2019 12;10:365. Epub 2019 Jun 12.

UOC di Endocrinologia e Diabetologia, Fondazione Policlinico Universitario A. Gemelli, IRCCS, ENETS Center of Excellence, Istituto di Patologia Speciale Medica, Università Cattolica del Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.3389/fendo.2019.00365DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6582702PMC
June 2019

Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant.

Clin Biochem 2019 Jan 10;63:54-58. Epub 2018 Oct 10.

Dipartimento di Diagnostica di Laboratorio, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy; Università Cattolica del Sacro Cuore, Roma, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S00099120183067
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http://dx.doi.org/10.1016/j.clinbiochem.2018.10.004DOI Listing
January 2019

Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.

Mol Diagn Ther 2018 06;22(3):261-280

Polo Scienze per Immagini, di Laboratorio e Infettivologiche, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli, Largo Francesco Vito 1, 00168, Rome, Italy.

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http://link.springer.com/10.1007/s40291-018-0319-y
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http://dx.doi.org/10.1007/s40291-018-0319-yDOI Listing
June 2018

A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis.

Clin Chim Acta 2018 May 16;480:173-179. Epub 2018 Feb 16.

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 Rome, Italy.

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http://dx.doi.org/10.1016/j.cca.2018.02.012DOI Listing
May 2018

Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome.

Hum Genome Var 2018 20;5. Epub 2018 Apr 20.

Polo Scienze per Immagini, di Laboratorio e Infettivologiche, Teaching and Research Hospital "Agostino Gemelli" Foundation, Rome, Italy.

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http://dx.doi.org/10.1038/s41439-018-0003-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938031PMC
April 2018

46,XY Disorder of Sex Development Caused by 17-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of Gene: Consequences of Late Diagnosis.

Case Rep Endocrinol 2018 24;2018:2086861. Epub 2018 Apr 24.

Unit of Endocrinology, Università Cattolica del Sacro Cuore and Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.

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http://dx.doi.org/10.1155/2018/2086861DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941809PMC
April 2018

A Whole Germline BRCA2 Gene Deletion: How to Learn from CNV In Silico Analysis.

Int J Mol Sci 2018 Mar 23;19(4). Epub 2018 Mar 23.

Istituto Dermopatico dell'Immacolata-Istituto di Ricovero e Cura a Carattere Scientifico, Dipartimento di Diagnostica di Laboratorio e Biologia Molecolare Clinica, 00168 Roma, Italy.

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http://dx.doi.org/10.3390/ijms19040961DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979302PMC
March 2018

Identification of twenty-nine novel germline unclassified variants of BRCA1 and BRCA2 genes in 1400 Italian individuals.

Breast 2017 Dec 8;36:74-78. Epub 2017 Oct 8.

Laboratory of Clinical Molecular Biology, Department of Biochemistry & Clinical Biochemistry, Catholic University of the Sacred Heart, Rome, Italy.

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http://dx.doi.org/10.1016/j.breast.2017.09.007DOI Listing
December 2017

Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome.

Mol Diagn Ther 2017 10;21(5):539-545

Polo Scienze per Immagini, di Laboratorio e Infettivologiche, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli, Largo Francesco Vito, 1-00168, Rome, Italy.

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http://dx.doi.org/10.1007/s40291-017-0288-6DOI Listing
October 2017

Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory.

Clin Chim Acta 2017 Jul 30;470:83-92. Epub 2017 Apr 30.

Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital "Agostino Gemelli" Foundation, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.04.026DOI Listing
July 2017

Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome.

Breast Cancer Res Treat 2017 Jul 9;164(2):497-503. Epub 2017 May 9.

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168, Rome, Italy.

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http://dx.doi.org/10.1007/s10549-017-4275-8DOI Listing
July 2017

CYP21A2 intronic variants causing 21-hydroxylase deficiency.

Metabolism 2017 06 9;71:46-51. Epub 2017 Mar 9.

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy.

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http://dx.doi.org/10.1016/j.metabol.2017.03.003DOI Listing
June 2017

High Resolution Melting Analysis is Very Useful to Identify BRCA1 c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA.

Mol Diagn Ther 2017 04;21(2):217-223

Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital 'Agostino Gemelli' Foundation, Rome, Italy.

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http://dx.doi.org/10.1007/s40291-017-0262-3DOI Listing
April 2017

Erratum to: High Resolution Melting Analysis is Very Useful to Identify BRCA1 c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA.

Mol Diagn Ther 2017 04;21(2):233

Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital 'Agostino Gemelli' Foundation, Rome, Italy.

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http://link.springer.com/10.1007/s40291-017-0273-0
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http://dx.doi.org/10.1007/s40291-017-0273-0DOI Listing
April 2017

Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years.

Cancer Genet 2016 Jan-Feb;209(1-2):36-41. Epub 2015 Dec 14.

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 Rome, Italy.

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http://dx.doi.org/10.1016/j.cancergen.2015.12.002DOI Listing
June 2016

CYP21A2 genetics: When genotype does not fit phenotype.

Clin Biochem 2016 Apr 21;49(6):524-525. Epub 2015 Jul 21.

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy.

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http://dx.doi.org/10.1016/j.clinbiochem.2015.07.022DOI Listing
April 2016

Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome.

Pediatr Blood Cancer 2015 Sep 27;62(9):1680-1. Epub 2015 Mar 27.

Department of Laboratory Medicine, Laboratory of Clinical Molecular and Personalized Diagnostics, Roma, Italy.

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http://doi.wiley.com/10.1002/pbc.25500
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http://dx.doi.org/10.1002/pbc.25500DOI Listing
September 2015

Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis.

Case Rep Genet 2015 1;2015:289627. Epub 2015 Apr 1.

Laboratory of Clinical Molecular and Personalized Diagnostics, Department of Laboratory Medicine, University Hospital "A. Gemelli", 8 Largo A. Gemelli, 00168 Rome, Italy.

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http://dx.doi.org/10.1155/2015/289627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4397493PMC
April 2015

A preliminary Quality Control (QC) for next generation sequencing (NGS) library evaluation turns out to be a very useful tool for a rapid detection of BRCA1/2 deleterious mutations.

Clin Chim Acta 2014 Nov 5;437:72-7. Epub 2014 Jul 5.

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2014.06.026DOI Listing
November 2014

DNA from buccal swab is suitable for rapid genotyping of angiotensin-converting enzyme insertion/deletion (I/D) polymorphism.

Clin Chim Acta 2014 Apr 7;431:125-30. Epub 2014 Jan 7.

Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00098981130053
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http://dx.doi.org/10.1016/j.cca.2013.12.041DOI Listing
April 2014

Genes, pseudogenes and like genes: the case of 21-hydroxylase in Italian population.

Clin Chim Acta 2013 Sep 28;424:85-9. Epub 2013 May 28.

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2013.05.019DOI Listing
September 2013

CYP21A2 p.E238 deletion as result of multiple microconversion events: a genetic study on an Italian congenital adrenal hyperplasia (CAH) family.

Diagn Mol Pathol 2013 Mar;22(1):48-51

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy.

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https://insights.ovid.com/crossref?an=00019606-201303000-000
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http://dx.doi.org/10.1097/PDM.0b013e31825df903DOI Listing
March 2013

p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients.

Metabolism 2012 Apr 19;61(4):519-24. Epub 2011 Oct 19.

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy.

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http://dx.doi.org/10.1016/j.metabol.2011.08.008DOI Listing
April 2012

Rapid detection of CFH (p.Y402H) and ARMS2 (p.A69S) polymorphisms in age-related macular degeneration using high-resolution melting analysis.

Clin Chem Lab Med 2012 Jan 13;50(6):1031-4. Epub 2012 Jan 13.

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1515/cclm-2011-0859DOI Listing
January 2012

Differentiated thyroid cancer in two patients with resistance to thyroid hormone.

Thyroid 2011 Jul 7;21(7):793-7. Epub 2011 Jun 7.

Department of Endocrinology, Catholic University School of Medicine, Rome, Italy.

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http://dx.doi.org/10.1089/thy.2010.0233DOI Listing
July 2011

Acute haemolytic crisis due to concomitant presence of infection and possible altered acetaminophen catabolism in a Philipino child carrying the G6PD-Vanua Lava mutation.

Ann Clin Biochem 2011 May 25;48(Pt 3):282-5. Epub 2011 Mar 25.

Laboratory of Clinical Diagnostic Molecular Biology, Institute of Biochemistry & Clinical Biochemistry, Teaching Hospital A.Gemelli, Heart, Rome, Italy.

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http://dx.doi.org/10.1258/acb.2010.010163DOI Listing
May 2011

Interaction between GSTM1 genotype and IL-6 on mortality in older adults: results from the ilSIRENTE study.

Cytokine 2011 Mar 18;53(3):301-5. Epub 2010 Dec 18.

Centro Medicina dell'Invecchiamento, Università Cattolica del Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1016/j.cyto.2010.11.020DOI Listing
March 2011

Insight into a novel p53 single point mutation (G389E) by Molecular Dynamics Simulations.

Int J Mol Sci 2010 Dec 30;12(1):128-40. Epub 2010 Dec 30.

Istituto di Biochimica e Biochimica Clinica, Università Cattolica del Sacro Cuore, Largo F. Vito 1, 00168 Rome, Italy.

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http://dx.doi.org/10.3390/ijms12010128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039947PMC
December 2010

How the "A" to "C" conversion may create a new splice acceptor site?

Metabolism 2010 Oct 23;59(10):e11-2; author reply e12. Epub 2010 Jul 23.

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http://dx.doi.org/10.1016/j.metabol.2010.06.010DOI Listing
October 2010

Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert's syndrome diagnosis.

Clin Chim Acta 2010 Feb 20;411(3-4):246-9. Epub 2009 Nov 20.

Laboratory of Clinical Molecular Biology, Institute of Biochemistry & Clinical Biochemistry, University Hospital A.Gemelli, Catholic University of the Sacred Heart, Rome, Italy.

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http://dx.doi.org/10.1016/j.cca.2009.11.013DOI Listing
February 2010

A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency.

Clin Chem Lab Med 2009 ;47(7):824-5

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1515/CCLM.2009.195DOI Listing
November 2009

Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia.

Clin Endocrinol (Oxf) 2009 Oct 17;71(4):470-6. Epub 2008 Dec 17.

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Largo A. Gemelli 8, Rome, Italy.

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http://dx.doi.org/10.1111/j.1365-2265.2008.03517.xDOI Listing
October 2009

A prolonged neonatal jaundice associated with a rare G6PD mutation.

Pediatr Blood Cancer 2009 Sep;53(3):475-8

Institute of Biochemistry and Clinical Biochemistry, Laboratory of Clinical Molecular Biology, Catholic University of the Sacred Heart, Rome, Italy.

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http://doi.wiley.com/10.1002/pbc.22046
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http://dx.doi.org/10.1002/pbc.22046DOI Listing
September 2009

A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.

BMC Med Genet 2009 Jul 22;10:72. Epub 2009 Jul 22.

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Largo A, Gemelli 8, 00168 Rome, Italy.

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http://dx.doi.org/10.1186/1471-2350-10-72DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2718876PMC
July 2009

Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report.

Clin Chim Acta 2009 Apr;402(1-2):164-70

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy.

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http://dx.doi.org/10.1016/j.cca.2009.01.008DOI Listing
April 2009

Two novel CYP21A2 missense mutations in Italian patients with 21-hydroxylase deficiency: Identification and functional characterisation.

IUBMB Life 2009 Mar;61(3):229-35

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1002/iub.147DOI Listing
March 2009

GSTM1-null polymorphism as possible risk marker for hypertension: results from the aging and longevity study in the Sirente Geographic Area (ilSIRENTE study).

Clin Chim Acta 2009 Jan 23;399(1-2):92-6. Epub 2008 Sep 23.

Institute of Biochemistry and Clinical Biochemistry, Catholic University of Sacred Heart, Roma, Italy.

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http://dx.doi.org/10.1016/j.cca.2008.09.017DOI Listing
January 2009

A novel MEN1 frameshift germline mutation in two Italian monozygotic twins.

Clin Chem Lab Med 2008 ;46(6):824-6

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1515/CCLM.2008.165DOI Listing
September 2008

Identification of RFLP G6PD mutations by using microcapillary electrophoretic chips (Experion).

J Sep Sci 2008 Aug;31(14):2694-700

Laboratory of Clinical Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1002/jssc.200800216DOI Listing
August 2008

Glucose-6-phosphate dehydrogenase Buenos Aires: a novel de novo missense mutation associated with severe enzyme deficiency.

Clin Biochem 2008 Jun 28;41(9):742-5. Epub 2007 Nov 28.

Laboratory of Clinical Molecular Biology Institute of Biochemistry and Clinical Biochemistry, Catholic University of Rome, Italy.

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http://dx.doi.org/10.1016/j.clinbiochem.2007.11.009DOI Listing
June 2008

Gene symbol: CYP21A2. Disease: Adrenal hyperplasia.

Hum Genet 2008 Jun;123(5):549-50

Universitá Cattolica del Sacro Cuore, Largo A.Gemelli, 8, 00168, Roma, Italy.

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June 2008

Gene symbol: CYP21A2. Disease: Adrenal hyperplasia.

Hum Genet 2008 Jun;123(5):550

Universitá Cattolica del Sacro Cuore, Largo A. Gemelli, 8, 00168, Roma, Italy.

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June 2008

Gene symbol: CYP21A2. Disease: Adrenal hyperplasia.

Hum Genet 2008 Jun;123(5):550

Università Cattolica del Sacro Cuore, Largo A. Gemelli, 8, 00168, Roma, Italy.

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June 2008

Gene symbol: CYP21A2. Disease: Non-classic 21-Hydroxylase deficiency.

Hum Genet 2008 Jun;123(5):553

Catholic University, Department of Biochemistry and Clinical Biochemistry, Largo F. Vito, 1, 00168, Roma, Italy.

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June 2008

Insulin-like growth factor I (CA) repeats are associated with higher melanoma's Breslow index but not associated with the presence of the melanoma. A pilot study.

Clin Chim Acta 2008 Apr 12;390(1-2):104-9. Epub 2008 Jan 12.

Laboratory of Molecular Biology, Institute of Biochemistry & Clinical Biochemistry, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy.

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http://dx.doi.org/10.1016/j.cca.2008.01.006DOI Listing
April 2008

First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy.

Clin Biochem 2007 Dec 26;40(18):1435-6. Epub 2007 Sep 26.

Laboratory of Clinical Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University School of Medicine, Largo F. Vito, 1-00168, Rome, Italy.

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http://dx.doi.org/10.1016/j.clinbiochem.2007.09.002DOI Listing
December 2007

Novel human pathological mutations. Gene Symbol: CYP21A2. Disease: Non-classic 21-hydroxylase deficiency.

Hum Genet 2007 Dec;122(5):559

Department of Biochemistry and Clinical Biochemistry, Largo F. Vito, 1, 00168 Roma, Italy.

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December 2007

Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome.

Hum Genet 2007 Nov;122(3-4):414

Catholic University of Rome, Institute of Biochemistry and Clinical Biochemistry, Largo F. Vito, 1, 00168, Roma, Italy.

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November 2007

Mannose-binding lectin polymorphisms and pulmonary outcome in premature neonates: a pilot study.

Intensive Care Med 2007 Oct 26;33(10):1787-94. Epub 2007 Jul 26.

Laboratory of Clinical Molecular Biology, Institute of Biochemistry & Clinical Biochemistry, School of Medicine, Catholic University, Largo F. Vito 1, 00168, Rome, Italy.

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http://dx.doi.org/10.1007/s00134-007-0793-xDOI Listing
October 2007

Association of periodontitis with GSTM1/GSTT1-null variants--a pilot study.

Clin Biochem 2007 Sep 27;40(13-14):939-45. Epub 2007 Apr 27.

Institute of Biochemistry and Clinical Biochemistry, Catholic University of Rome, Italy.

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http://dx.doi.org/10.1016/j.clinbiochem.2007.04.012DOI Listing
September 2007

Description of a novel missense mutation of glucose-6-phosphate dehydrogenase gene associated with asymptomatic high enzyme deficiency.

Clin Biochem 2007 Aug 20;40(12):856-8. Epub 2007 Apr 20.

Laboratory of Clinical Molecular Biology, Department of Biochemistry and Clinical Biochemistry, Catholic University, Largo F Vito 1, 00168, Rome, Italy.

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http://dx.doi.org/10.1016/j.clinbiochem.2007.03.025DOI Listing
August 2007

Genetic analysis of the dystroglycan gene in bronchopulmonary dysplasia affected premature newborns.

Clin Chim Acta 2007 Mar 25;378(1-2):164-7. Epub 2006 Nov 25.

Laboratorio di Biologia Molecolare, Università Cattolica del Sacro Cuore, Italy.

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http://dx.doi.org/10.1016/j.cca.2006.11.016DOI Listing
March 2007

GSTT1 and GSTM1 allelic polymorphisms in head and neck cancer patients from Italian Lazio Region.

Clin Chim Acta 2007 Feb 17;376(1-2):174-8. Epub 2006 Aug 17.

Laboratory of Molecular Biology, Department of Biochemistry and Clinical Biochemistry-Catholic University, Rome, Italy.

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http://dx.doi.org/10.1016/j.cca.2006.08.017DOI Listing
February 2007

Association between serum free IGF-I and IGFBP-3 levels in type-I diabetes patients affected with associated autoimmune diseases or diabetic complications.

Eur Cytokine Netw 2006 Sep;17(3):167-74

Laboratory of Molecular Biology, Institute of Biochemistry & Clinical Biochemistry, Catholic University, Rome, Italy.

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September 2006

Serum levels of seven cytokines in premature ventilated newborns: correlations with old and new forms of bronchopulmonary dysplasia.

Intensive Care Med 2006 May 21;32(5):723-30. Epub 2006 Mar 21.

Division of Neonatology, Department of Paediatrics, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, and General Hospital S. Giovanni Calibita, Laboratory of Clinical Pathology, Rome, Italy.

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http://dx.doi.org/10.1007/s00134-006-0138-1DOI Listing
May 2006

Linkage between I172N mutation, a marker of 21-hydroxylase deficiency, and a single nucleotide polymorphism in Int6 of CYP21B gene: a genetic study of Sardinian family.

Clin Chim Acta 2006 Feb 19;364(1-2):298-302. Epub 2005 Sep 19.

Laboratory of Clinical Molecular Biology, Department of Biochemistry and Clinical Biochemistry Catholic University, Rome, Italy.

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http://dx.doi.org/10.1016/j.cca.2005.07.020DOI Listing
February 2006

The unsolved enigma of CDH1 down-regulation in hereditary diffuse gastric cancer.

J Surg Res 2004 Sep;121(1):50-5

Laboratory of Antineoplastic Pharmacology, Università Cattolica Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1016/j.jss.2004.03.008DOI Listing
September 2004