Pietro Cavalli

Pietro Cavalli

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Pietro Cavalli

Pietro Cavalli

Publications by authors named "Pietro Cavalli"

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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

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.

JCO Precis Oncol 2018 26;2. Epub 2018 Oct 26.

Maastricht University Medical Center, Maastricht.

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http://dx.doi.org/10.1200/PO.18.00091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6742430PMC
October 2018

Corrigendum to "Myoinositol: The Bridge (PONTI) to Reach a Healthy Pregnancy".

Int J Endocrinol 2018 12;2018:6050369. Epub 2018 Sep 12.

Clinical Genetics, ASST Cremona, Via Concordia 1, 26100 Cremona, Italy.

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http://dx.doi.org/10.1155/2018/6050369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157107PMC
September 2018

Myoinositol: The Bridge (PONTI) to Reach a Healthy Pregnancy.

Int J Endocrinol 2017 15;2017:5846286. Epub 2017 Jan 15.

Clinical Genetics, ASST Cremona, Via Concordia 1, 26100 Cremona, Italy.

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http://dx.doi.org/10.1155/2017/5846286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5274721PMC
January 2017

Myo-inositol in Down syndrome amniotic fluid. A case-control study.

Prenat Diagn 2014 Sep 5;34(9):917-8. Epub 2014 Jul 5.

Department of Pediatrics, Gynecology, Microbiology and Biomedical Sciences, University of Messina, Messina, Italy.

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http://dx.doi.org/10.1002/pd.4398DOI Listing
September 2014

A case of neonatal Jeune syndrome expanding the phenotype.

Clin Case Rep 2014 Aug 2;2(4):156-8. Epub 2014 Jun 2.

Neonatal Intensive Care Unit, Azienda Istituti Ospitalieri di Cremona Via Concordia, 1 26100, Cremona, Italy.

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http://doi.wiley.com/10.1002/ccr3.85
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http://dx.doi.org/10.1002/ccr3.85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184654PMC
August 2014

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

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http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.

Clin Biochem 2013 Dec 12;46(18):1902-4. Epub 2013 Sep 12.

School of Clinical & Experimental Medicine, College of Medical & Dental Sciences, University of Birmingham, Birmingham, United Kingdom.

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http://dx.doi.org/10.1016/j.clinbiochem.2013.09.004DOI Listing
December 2013

The future of prenatal diagnosis: karyotype, microarray or both? Technical and ethical considerations.

Expert Rev Proteomics 2013 Apr;10(2):131-4

Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Hospital, Viale dei Cappuccini, s.n.c.71013 San Giovanni Rotondo, Foggia, Italy.

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http://dx.doi.org/10.1586/epr.13.9DOI Listing
April 2013

Acrania-anencephaly associated with hypospadias. Prenatal ultrasound and MRI diagnosis and molecular folate metabolism pathway analysis.

Fetal Pediatr Pathol 2012 Dec 23;31(6):379-87. Epub 2012 Mar 23.

Department of Obstetrics & Gynecology, Guastalla General Hospital, AUSL Reggio Emilia, Guastalla, Italy.

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http://dx.doi.org/10.3109/15513815.2012.659403DOI Listing
December 2012

Myo-inositol soft gel capsules may prevent the risk of coffee-induced neural tube defects.

Expert Opin Drug Deliv 2012 Sep 5;9(9):1033-9. Epub 2012 Jul 5.

A.G.UN.CO., Obstetrics and Gynecology Center, Gennaro Cassiani 15, 00155 Rome, Italy.

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http://www.tandfonline.com/doi/full/10.1517/17425247.2012.70
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http://dx.doi.org/10.1517/17425247.2012.701616DOI Listing
September 2012

Array CGH in routine prenatal diagnosis practice.

Prenat Diagn 2012 Jul;32(7):708-9; author reply 711-2

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http://doi.wiley.com/10.1002/pd.3845
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http://dx.doi.org/10.1002/pd.3845DOI Listing
July 2012

Effects of inositol supplementation in a cohort of mothers at risk of producing an NTD pregnancy.

Birth Defects Res A Clin Mol Teratol 2011 Nov 28;91(11):962-5. Epub 2011 Sep 28.

Servizio di Genetica, AO Istituti Ospitalieri, Cremona, Italy.

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http://dx.doi.org/10.1002/bdra.22853DOI Listing
November 2011

Caffeine intake and risk of neural tube defects.

Birth Defects Res A Clin Mol Teratol 2011 Jan 15;91(1):67; author reply 68. Epub 2010 Nov 15.

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http://dx.doi.org/10.1002/bdra.20739DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4854646PMC
January 2011

Chromosome territories, X;Y translocation and Premature Ovarian Failure: is there a relationship?

Mol Cytogenet 2009 Sep 27;2:19. Epub 2009 Sep 27.

Department of Neuroscience and Biomedical Technologies, University of Milan-Bicocca, via Cadore 48, 20052, Monza, Italy.

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http://dx.doi.org/10.1186/1755-8166-2-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2761935PMC
September 2009

Genetic counseling: a medical approach.

Authors:
Pietro Cavalli

Genet Test Mol Biomarkers 2009 Feb;13(1):1-5

Clinical Genetics, Azienda Istituti Ospitalieri, Cremona, Italy.

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http://dx.doi.org/10.1089/gtmb.2008.0010DOI Listing
February 2009

Prevention of Neural Tube Defects and proper folate periconceptional supplementation.

Authors:
Pietro Cavalli

J Prenat Med 2008 Oct;2(4):40-1

Servizio di Genetica, Azienda Istituti Ospitalieri.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3279093PMC
October 2008

Inositol supplementation in pregnancies at risk of apparently folate-resistant NTDs.

Birth Defects Res A Clin Mol Teratol 2008 Jul;82(7):540-2

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http://dx.doi.org/10.1002/bdra.20454DOI Listing
July 2008

First trimester diagnosis of iniencephaly associated with fetal malformations and trisomy 18: report of a new case and gene analysis on folate metabolism in parents.

Congenit Anom (Kyoto) 2007 Sep;47(3):101-4

Division of Obstetrics and Gynecology, Guastalla Provincial Hospital AUSL Reggio Emilia, Italy.

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http://dx.doi.org/10.1111/j.1741-4520.2007.00154.xDOI Listing
September 2007

Prenatal diagnosis of X chromosome monosomy.

Prenat Diagn 2006 Oct;26(10):992-3

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http://dx.doi.org/10.1002/pd.1563DOI Listing
October 2006

Multiple aneuploidy recurrence.

Am J Med Genet A 2005 Aug;137(1):104-5

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http://dx.doi.org/10.1002/ajmg.a.30843DOI Listing
August 2005

Medical discoveries and scientific priority.

Authors:
Pietro Cavalli

N Engl J Med 2005 Mar;352(11):1154

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http://dx.doi.org/10.1056/NEJM200503173521122DOI Listing
March 2005

Down's syndrome.

Lancet 2003 Jul;362(9377):81

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http://dx.doi.org/10.1016/S0140-6736(03)13827-5DOI Listing
July 2003