Marina Murdolo

Marina Murdolo

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Marina Murdolo

Marina Murdolo

Publications by authors named "Marina Murdolo"

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Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.

J Assist Reprod Genet 2016 Feb 4;33(2):189-97. Epub 2015 Dec 4.

Department of Reproductive Biology and Stem Cells, Institute of Human Genetics, Polish Academy of Sciences, Strzeszyńska 32, 60-479, Poznań, Poland.

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http://dx.doi.org/10.1007/s10815-015-0622-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4759004PMC
February 2016

Von hippel-lindau disease and erythrocytosis.

J Clin Oncol 2012 May 5;30(13):e137-9. Epub 2012 Mar 5.

Istituto di Anatomia Patologica, Università Cattolica, Largo Gemelli 8, 00168 Roma, Italy.

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http://dx.doi.org/10.1200/JCO.2011.38.6797DOI Listing
May 2012

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.

Nat Genet 2012 Apr 29;44(6):636-8. Epub 2012 Apr 29.

Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy.

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http://www.nature.com/articles/ng.2257
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http://dx.doi.org/10.1038/ng.2257DOI Listing
April 2012

Trisomy 12p and monosomy 4p: phenotype-genotype correlation.

Genet Test Mol Biomarkers 2009 Apr;13(2):199-204

S.C. Genetica Medica, IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.1089/gtmb.2008.0109DOI Listing
April 2009

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

Am J Med Genet C Semin Med Genet 2008 Nov;148C(4):257-69

Department of Medical Genetics, Università Cattolica Sacro Cuore, Roma, Italy.

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http://dx.doi.org/10.1002/ajmg.c.30190DOI Listing
November 2008

Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes.

Am J Med Genet A 2007 Jun;143A(11):1169-73

SC Genetica Umana, Ospedale Galliera, Genova, and Istituto di Genetica Medica, Facoltà di Mediciina e Chirurgia, Policlinico A. Gemelli, UCSC, Roma, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.31723
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http://dx.doi.org/10.1002/ajmg.a.31723DOI Listing
June 2007

The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12.

Hum Genet 2006 Feb 2;118(6):760-6. Epub 2005 Dec 2.

Istituto di Genetica Medica, Università Cattolica Sacro Cuore, Policlinico A. Gemelli, Largo F. Vito 1, 00168, Rome, Italy.

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http://link.springer.com/10.1007/s00439-005-0085-x
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http://dx.doi.org/10.1007/s00439-005-0085-xDOI Listing
February 2006

The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.

Am J Med Genet A 2005 Jul;136(2):175-8

Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC) del Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.30775DOI Listing
July 2005