Publications by authors named "Luigina Spaccini"

30Publications

CD10 and CD34 as markers in vascular malformations with PIK3CA and TEK mutations.

Hum Pathol 2020 May 6;99:98-106. Epub 2020 Apr 6.

Unit of Human Pathology, Department of Health Sciences, Santi Paolo e Carlo Hospital Medical School, University of Milan, Milan, 20142, Italy.

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http://dx.doi.org/10.1016/j.humpath.2020.04.001DOI Listing
May 2020

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

Am J Hum Genet 2020 04 19;106(4):570-583. Epub 2020 Mar 19.

Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Program in Development, Disease Models, and Therapeutics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.02.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118694PMC
April 2020

Major Discordant Structural Anomalies in Monochorionic Twins: Spectrum and Outcomes.

Twin Res Hum Genet 2018 12 30;21(6):546-555. Epub 2018 Oct 30.

Department of Obstetrics and Gynecology,Vittore Buzzi Children's Hospital,Università di Milano,Milan,Italy.

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http://dx.doi.org/10.1017/thg.2018.58DOI Listing
December 2018

Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report.

Ital J Pediatr 2018 May 25;44(1):59. Epub 2018 May 25.

Pediatric Department, "V. Buzzi" Children's Hospital, University of Milan, Via Castelvetro 32, 20154, Milan, Italy.

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http://dx.doi.org/10.1186/s13052-018-0500-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970537PMC
May 2018

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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http://www.nature.com/articles/gim2017221
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http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.

Orphanet J Rare Dis 2016 10 7;11(1):136. Epub 2016 Oct 7.

Laboratorio di Citogenetica Medica e Genetica Molecolare, Centro di Ricerche e Tecnologie Biomediche IRCCS-Istituto Auxologico Italiano, Via Zucchi 18, 20095, Cusano Milanino, Italy.

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http://dx.doi.org/10.1186/s13023-016-0514-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054609PMC
October 2016

Familial Precocious Fetal Abnormal Cortical Sulcation.

Neuropediatrics 2016 Aug 13;47(4):253-8. Epub 2016 May 13.

Department of Pediatric Radiology and Neuroradiology, Children's Hospital V. Buzzi, Milan, Italy.

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http://dx.doi.org/10.1055/s-0036-1583185DOI Listing
August 2016

Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.

Am J Med Genet A 2016 May 10;170A(5):1352-7. Epub 2016 Feb 10.

Fetal Therapy Unit, Department of Obstetrics and Gynaecology, Children's Hospital V. Buzzi, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37594DOI Listing
May 2016

Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report.

Pediatr Blood Cancer 2016 Mar 20;63(3):572-3. Epub 2015 Oct 20.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1002/pbc.25806DOI Listing
March 2016

Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia.

Prenat Diagn 2014 Oct 11;34(10):1015-7. Epub 2014 Jun 11.

Radiology and Neuroradiology Department, Children's Hospital V. Buzzi, Milan, Italy; Medical Genetics Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1002/pd.4415DOI Listing
October 2014

Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.

Am J Med Genet A 2013 Sep 29;161A(9):2316-20. Epub 2013 Jul 29.

Clinical Genetics Service, V. Buzzi Children's Hospital, ICP, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36116DOI Listing
September 2013

Semiological study of ictal affective behaviour in epilepsy and mental retardation limited to females (EFMR).

Epileptic Disord 2012 Sep;14(3):304-9

IRCCS, Institute of Neurological Sciences, Department of Neurological Sciences, University of Bologna, Bologna.

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http://dx.doi.org/10.1684/epd.2012.0526DOI Listing
September 2012

Common structural features characterize interstitial intrachromosomal Xp and 18q triplications.

Am J Med Genet A 2011 Nov 30;155A(11):2681-7. Epub 2011 Sep 30.

Istituto Scientifico E. Medea, Bosisio Parini (LC), Italy.

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http://dx.doi.org/10.1002/ajmg.a.34248DOI Listing
November 2011

Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation.

Eur J Paediatr Neurol 2011 Nov 5;15(6):547-50. Epub 2011 Jul 5.

Muscular and Neurodegenerative Disease Unit and Laboratory of Neurogenetics, Institute G. Gaslini, University of Genova, Genova, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2011.05.011DOI Listing
November 2011

Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL.

Genet Med 2007 Mar;9(3):188-94

Clinical Genetic Unit, Fondazione Ospedale Maggiore Policlinico Mangiagalli e Regina Elena, Department of Obstetrics and Pediatrics, Milan, Italy.

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http://dx.doi.org/10.1097/gim.0b013e31803183ddDOI Listing
March 2007