Valeria Capra

Valeria Capra

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Valeria Capra

Valeria Capra

Publications by authors named "Valeria Capra"

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Chiari malformation type I: what information from the genetics?

Childs Nerv Syst 2019 Oct 5;35(10):1665-1671. Epub 2019 Aug 5.

UOSD Laboratorio Neurogenetica e Neuroscienze, IRCCS Istituto Giannina Gaslini, v. G. Gaslini 5, 16147, Genoa, Italy.

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http://dx.doi.org/10.1007/s00381-019-04322-wDOI Listing
October 2019

Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects.

Cells 2019 Oct 4;8(10). Epub 2019 Oct 4.

Department of Neurosciences, University of Montreal and CHU Sainte Justine Research Center, Montreal, QC H3T1C5, Canada.

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http://dx.doi.org/10.3390/cells8101198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6829399PMC
October 2019

Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum.

Pediatr Blood Cancer 2019 09 27;66(9):e27831. Epub 2019 May 27.

Department of Neurosurgery, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1002/pbc.27831DOI Listing
September 2019

Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation.

Neuropediatrics 2019 08 28;50(4):268-270. Epub 2019 May 28.

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1055/s-0039-1688954DOI Listing
August 2019

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy.

Eur J Paediatr Neurol 2019 Jul 24;23(4):657-661. Epub 2019 May 24.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2019.05.011DOI Listing
July 2019

'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22.

J Genet 2019 06;98(2)

Laboratorio di Citogenetica, Istituto Giannina Gaslini, 16147 Genova, Italy.

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June 2019

Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation.

Seizure 2019 Apr 7;67:57-60. Epub 2019 Mar 7.

Epilepsy Centre, Unit of Child Neuropsychiatry, Department of Medical and Surgical Neurosciences and Rehabilitation, IRCCS Giannina Gaslini Institute, Genoa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2019.02.019DOI Listing
April 2019

Intraspinal Inclusion Tumor After Myelomeningocele Repair: A Long-Term Single-Center Experience.

World Neurosurg 2019 Feb 15;122:e1338-e1344. Epub 2018 Nov 15.

Department of Pediatric Neurosurgery, Istituto Giannina Gaslini, Genoa, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S18788750183259
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http://dx.doi.org/10.1016/j.wneu.2018.11.044DOI Listing
February 2019

Clinical Manifestations and Metabolic Outcomes of Seven Adults With Silver-Russell Syndrome.

J Clin Endocrinol Metab 2018 06;103(6):2225-2233

Department of Pediatrics, Istituto Giannina Gaslini, University of Genova, Genova, Italy.

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http://dx.doi.org/10.1210/jc.2017-02589DOI Listing
June 2018

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.

Neuropediatrics 2018 06 9;49(3):217-221. Epub 2018 Apr 9.

Child Neuropsychiatry Unit, Epilepsy Centre, Head Neck Neuroscience Department, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1055/s-0038-1639372DOI Listing
June 2018

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.

Am J Med Genet A 2018 03 5;176(3):663-667. Epub 2018 Jan 5.

UOC Neurochirurgia, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38593DOI Listing
March 2018

Moyamoya Vasculopathy in PHACE Syndrome: Six New Cases and Review of the Literature.

World Neurosurg 2017 Dec 5;108:291-302. Epub 2017 Sep 5.

Department of Neurosurgery, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1016/j.wneu.2017.08.176DOI Listing
December 2017

Novel mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.

Neurol Genet 2017 Oct 9;3(5):e179. Epub 2017 Aug 9.

Istituto G. Gaslini (A.A., M.I., F.P., A.O., M.S.V., C.M., M.S., P.S., V.C., F.Z.), Genova; Università degli Studi di Genova (A.A., M.I., C.M., P.S.); Ospedale San Paolo (R.S.), Milano, Italy; Dipartimento di Biochimica Biofisica e Patologia Generale (A.T., V.N.), Seconda Università di Napoli; and Telethon Institute of Genetics and Medicine (A.T., V.N.).

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http://dx.doi.org/10.1212/NXG.0000000000000179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550382PMC
October 2017

A novel Xp22.13 microdeletion in Nance-Horan syndrome.

Birth Defects Res 2017 Jul 2;109(11):866-868. Epub 2017 May 2.

Istituto G. Gaslini, Genova, Italy.

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http://dx.doi.org/10.1002/bdr2.1032DOI Listing
July 2017

Rare deleterious variants in GRHL3 are associated with human spina bifida.

Hum Mutat 2017 06 24;38(6):716-724. Epub 2017 Mar 24.

CHU Sainte Justine Research Center and University of Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/humu.23214DOI Listing
June 2017

Scribble1 plays an important role in the pathogenesis of neural tube defects through its mediating effect of Par-3 and Vangl1/2 localization.

Hum Mol Genet 2017 06;26(12):2307-2320

Department of Neurosciences, CHU Sainte Justine Research Center, University of Montréal, Montréal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1093/hmg/ddx122DOI Listing
June 2017

Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.

Am J Med Genet A 2017 Jun 19;173(6):1521-1530. Epub 2017 Apr 19.

Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Università degli Studi della Campania "Luigi Vanvitelli,", Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38212DOI Listing
June 2017

Sacral agenesis: a pilot whole exome sequencing and copy number study.

BMC Med Genet 2016 Dec 22;17(1):98. Epub 2016 Dec 22.

Department of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR.

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http://dx.doi.org/10.1186/s12881-016-0359-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5178083PMC
December 2016

Genetic Screening of Pediatric Cavernous Malformations.

J Mol Neurosci 2016 Oct 25;60(2):232-8. Epub 2016 Aug 25.

Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1007/s12031-016-0806-8DOI Listing
October 2016

Distinctive Genetic Profile With IDH1, TP53, and MLH1 Mutations in a Radiation-Induced Anaplastic Astrocytoma.

Pediatr Blood Cancer 2016 Jan 16;63(1):179. Epub 2015 Jul 16.

Istituto Giannina Gaslini, via G. Gaslini 5, 16147 Genoa, Italy.

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http://dx.doi.org/10.1002/pbc.25671DOI Listing
January 2016

Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans.

Birth Defects Res A Clin Mol Teratol 2015 Dec 14;103(12):1021-7. Epub 2015 Sep 14.

CHU Ste-Justine Research Center, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/bdra.23422DOI Listing
December 2015

Cost effective assay choice for rare disease study designs.

Orphanet J Rare Dis 2015 Feb 4;10:10. Epub 2015 Feb 4.

Department of Surgery, University of Hong Kong, Hong Kong, SAR, China.

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http://dx.doi.org/10.1186/s13023-015-0226-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4334400PMC
February 2015

Genetic studies of ANKRD6 as a molecular switch between Wnt signaling pathways in human neural tube defects.

Birth Defects Res A Clin Mol Teratol 2015 Jan 8;103(1):20-6. Epub 2014 Sep 8.

Department of Neurosciences, CHU Sainte Justine Research Center and University of Montréal, Genova, Italy.

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http://dx.doi.org/10.1002/bdra.23273DOI Listing
January 2015

Periventricular nodular heterotopia in Smith-Magenis syndrome.

Am J Med Genet A 2014 Dec 24;164A(12):3142-7. Epub 2014 Sep 24.

Neurosurgery Unit, Istituto Giannina Gaslini, 16147 Genova, Genoa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36742DOI Listing
December 2014

Urological outcome in patients with Currarino syndrome.

J Pediatr Surg 2014 Nov 31;49(11):1643-6. Epub 2014 Oct 31.

Istituto Giannina Gaslini, Genova, Italy.

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http://dx.doi.org/10.1016/j.jpedsurg.2014.05.038DOI Listing
November 2014

Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population.

Birth Defects Res A Clin Mol Teratol 2014 Aug 17;100(8):633-41. Epub 2014 May 17.

Istituto Giannina Gaslini, Genova, Italy.

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http://dx.doi.org/10.1002/bdra.23255DOI Listing
August 2014

Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases.

Eur J Med Genet 2013 Dec 3;56(12):648-54. Epub 2013 Oct 3.

U.O.C. Neurochirurgia, Istituto Giannina Gaslini, Via G. Gaslini 5, Genova 16147, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.09.011DOI Listing
December 2013

Rare missense variants in DVL1, one of the human counterparts of the Drosophila dishevelled gene, do not confer increased risk for neural tube defects.

Birth Defects Res A Clin Mol Teratol 2013 Jul 8;97(7):452-5. Epub 2013 Jul 8.

UOC Neurochirurgia, Istituto Giannina Gaslini, Genova, Italia.

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http://dx.doi.org/10.1002/bdra.23157DOI Listing
July 2013

Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defects.

J Mol Neurosci 2013 Mar 15;49(3):582-8. Epub 2012 Aug 15.

Neurosurgery Department, G. Gaslini Institute, Genova, 16148, Italy.

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http://dx.doi.org/10.1007/s12031-012-9871-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3566388PMC
March 2013

De novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformations.

J Mol Neurosci 2012 Jul 14;47(3):475-80. Epub 2012 Mar 14.

Department of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital, Piazza Ospedale Maggiore 3, 20162, Milan, Italy.

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http://dx.doi.org/10.1007/s12031-012-9741-5DOI Listing
July 2012

Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: is it useful?

Brain Dev 2012 May 25;34(5):384-91. Epub 2011 Sep 25.

Dipartimento di Scienze Pediatriche, Università di Genova, IRCCS G. Gaslini, Genova, Italy.

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http://dx.doi.org/10.1016/j.braindev.2011.08.001DOI Listing
May 2012

Human neural tube defects: genetic causes and prevention.

Biofactors 2011 Jul-Aug;37(4):261-8. Epub 2011 Jun 14.

U.O. Neurochirurgia, Istituto G. Gaslini, Genova, Italy.

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http://dx.doi.org/10.1002/biof.170DOI Listing
March 2012

Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis.

Birth Defects Res A Clin Mol Teratol 2012 Mar 28;94(3):176-81. Epub 2012 Feb 28.

Department of Obstetrics and Gynecology, CHU Sainte Justine Research Center and University of Montréal, Montréal, Canada.

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http://dx.doi.org/10.1002/bdra.23002DOI Listing
March 2012

FZD6 is a novel gene for human neural tube defects.

Hum Mutat 2012 Feb 28;33(2):384-90. Epub 2011 Nov 28.

Neurosurgery Department, G. Gaslini Institute, Genova, Italy.

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http://doi.wiley.com/10.1002/humu.21643
Publisher Site
http://dx.doi.org/10.1002/humu.21643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3482927PMC
February 2012

Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.

Hum Mutat 2011 Dec 23;32(12):1371-5. Epub 2011 Sep 23.

Department of Obstetrics and Gynecology, CHU Sainte Justine Research Center and University of Montreal, Montreal, Canada.

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http://dx.doi.org/10.1002/humu.21589DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3217084PMC
December 2011

Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.

Hum Mol Genet 2011 Nov 12;20(22):4324-33. Epub 2011 Aug 12.

Department of Medicine, McGill University, Montreal, Quebec, Canada H3A 2B4.

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http://dx.doi.org/10.1093/hmg/ddr359DOI Listing
November 2011

Troubleshooting fine-tuning procedures for qPCR system design.

J Clin Lab Anal 2011 Nov;25(6):389-94

Neurosurgery Unit, Giannina Gaslini Children's Research Hospital, Genoa, Italy.

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http://doi.wiley.com/10.1002/jcla.20489
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http://dx.doi.org/10.1002/jcla.20489DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6647679PMC
November 2011

VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish.

Mech Dev 2010 Jul-Aug;127(7-8):385-92. Epub 2010 Jan 4.

Department of Obstetrics and Gynecology, CHU Sainte Justine Research Center and University of Montreal, Montreal, Quebec, Canada H3T 1C5.

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http://dx.doi.org/10.1016/j.mod.2009.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965831PMC
January 2011

Simultaneous occurrence of pancreatoblastoma and neuroblastoma in a newborn with beckwith-wiedemann syndrome.

J Pediatr Hematol Oncol 2010 Jul;32(5):e207-9

Department of Hematology-Oncology, Gaslini Children's Hospital, Genoa, Italy.

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http://dx.doi.org/10.1097/MPH.0b013e3181dccd1eDOI Listing
July 2010

Detection of transplacental melanoma metastasis using quantitative PCR.

Diagn Mol Pathol 2010 Jun;19(2):78-82

Neurosurgery Unit daggerPathology Unit, Giannina Gaslini Children's Research Hospital, Genoa, Italy.

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http://dx.doi.org/10.1097/PDM.0b013e3181b6a546DOI Listing
June 2010

Novel mutations in VANGL1 in neural tube defects.

Hum Mutat 2009 Jul;30(7):E706-15

CHU Sainte Justine Research Center, Department of Obstetrics and Gynecology, University of Montreal, Montreal, QC, Canada. zoha.kibar@ recherche-ste-justine.qc.ca

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http://dx.doi.org/10.1002/humu.21026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2885434PMC
July 2009

No major role for the EMX2 gene in schizencephaly.

Am J Med Genet A 2008 May;146A(9):1142-50

Department of Neurosurgery, Gaslini Institute, Genoa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32264DOI Listing
May 2008

Identification of novel chromosomal abnormalities and prognostic cytogenetics markers in intracranial pediatric ependymoma.

Cancer Lett 2008 Mar 7;261(2):235-43. Epub 2008 Jan 7.

Laboratory of Oncology, Department of Laboratory and Experimental Medicine, Giannina Gaslini Institute, Genoa, Italy.

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http://dx.doi.org/10.1016/j.canlet.2007.11.021DOI Listing
March 2008

Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation.

Am J Med Genet A 2007 Apr;143A(8):888-90

Department of Genetic Medicine and Development, Geneva University Medical School and University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.31651DOI Listing
April 2007

Current perspectives on the genetic causes of neural tube defects.

Neurogenetics 2006 Nov 29;7(4):201-21. Epub 2006 Aug 29.

U.O. Neurochirurgia, Istituto G. Gaslini, Largo G. Gaslini 5, 16148, Genova, Italy.

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http://dx.doi.org/10.1007/s10048-006-0052-2DOI Listing
November 2006

Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk.

J Hum Genet 2006 29;51(2):98-103. Epub 2005 Nov 29.

Unità Operativa di Neurochirurgia, Istituto G. Gaslini, Largo G. Gaslini 5, 16148 Genoa, Italy.

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http://dx.doi.org/10.1007/s10038-005-0329-6DOI Listing
October 2006

Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome.

Am J Respir Crit Care Med 2006 Sep 8;174(6):706-9. Epub 2006 Jun 8.

Laboratory of Molecular Genetics, Giannina Gaslini Institute, Genoa, Italy.

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http://dx.doi.org/10.1164/rccm.200602-266CRDOI Listing
September 2006

Leiomyomatosis peritonealis disseminata in association with Currarino syndrome?

BMC Cancer 2006 May 10;6:127. Epub 2006 May 10.

Department of Gynecology and Obstetrics, and Pathophysiology of Human Reproduction, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy.

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http://dx.doi.org/10.1186/1471-2407-6-127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1481579PMC
May 2006

HLXB9 homeobox gene and caudal regression syndrome.

Birth Defects Res A Clin Mol Teratol 2006 Mar;76(3):205-9

U.O. Neurochirurgia, Istituto G. Gaslini, Genova, Italy.

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http://dx.doi.org/10.1002/bdra.20234DOI Listing
March 2006

Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome.

Birth Defects Res A Clin Mol Teratol 2006 Feb;76(2):86-95

U.O. Neurochirurgia, Istituto G. Gaslini, Genova, Italy.

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http://dx.doi.org/10.1002/bdra.20225DOI Listing
February 2006

Molecular genetic analysis of human homologs of Caenorhabditis elegans mab-21-like 1 gene in patients with neural tube defects.

Birth Defects Res A Clin Mol Teratol 2004 Nov;70(11):885-8

Laboratorio della Unita' Operativa di Neurochirurgia, Istituto G. Gaslini, Genova, Italy.

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http://doi.wiley.com/10.1002/bdra.20084
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http://dx.doi.org/10.1002/bdra.20084DOI Listing
November 2004