Roberto Giorda

Roberto Giorda

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Roberto Giorda

Publications by authors named "Roberto Giorda"

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Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review.

Brain Dev 2019 Aug 30. Epub 2019 Aug 30.

Scientific Institute IRCCS "E. Medea", Unit for Severe Disabilities in Developmental Age and Young Adults (Developmental Neurology and Neurorehabilitation), Brindisi, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2019.08.001DOI Listing
August 2019

The influence of DCDC2 risk genetic variants on reading: Testing main and haplotypic effects.

Neuropsychologia 2019 Jul 24;130:52-58. Epub 2018 May 24.

Child Psychopathology Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neuropsychologia.2018.05.021DOI Listing
July 2019

Novel epilepsy phenotype associated to a known SCN8A mutation.

Seizure 2019 Apr 4;67:15-17. Epub 2019 Mar 4.

Scientific Institute, IRCCS E. Medea, Clinical Neurophysiology Unit, Bosisio Parini, LC, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S10591311183082
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http://dx.doi.org/10.1016/j.seizure.2019.01.017DOI Listing
April 2019

Telomere length and salivary cortisol stress reactivity in very preterm infants.

Early Hum Dev 2019 02 7;129:1-4. Epub 2018 Dec 7.

0-3 Center for the at-Risk Infant, Scientific Institute IRCCS Eugenio Medea, via Don Luigi Monza 20, 23842 Bosisio Parini, Lecco, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S03783782183053
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http://dx.doi.org/10.1016/j.earlhumdev.2018.12.002DOI Listing
February 2019

Very preterm birth is associated with PLAGL1 gene hypomethylation at birth and discharge.

Epigenomics 2018 08 2;10(8):1121-1130. Epub 2018 Aug 2.

0-3 Center for the at-Risk Infant, Scientific Institute, IRCCS Eugenio Medea, 238422, Bosisio Parini, Italy.

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http://dx.doi.org/10.2217/epi-2017-0123DOI Listing
August 2018

From CNTNAP2 to Early Expressive Language in Infancy: The Mediation Role of Rapid Auditory Processing.

Cereb Cortex 2018 06;28(6):2100-2108

Department of Child Psychiatry, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco 23842, Italy.

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http://dx.doi.org/10.1093/cercor/bhx115DOI Listing
June 2018

Pain exposure associates with telomere length erosion in very preterm infants.

Psychoneuroendocrinology 2018 03 2;89:113-119. Epub 2018 Feb 2.

0-3 Center for the at-Risk Infant, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.psyneuen.2018.01.009DOI Listing
March 2018

The role of READ1 and KIAA0319 genetic variations in developmental dyslexia: testing main and interactive effects.

J Hum Genet 2017 Nov 3;62(11):949-955. Epub 2017 Aug 3.

Child Psychopathology Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.

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http://dx.doi.org/10.1038/jhg.2017.80DOI Listing
November 2017

Telomere Length in Preterm Infants: A Promising Biomarker of Early Adversity and Care in the Neonatal Intensive Care Unit?

Front Endocrinol (Lausanne) 2017 31;8:295. Epub 2017 Oct 31.

0-3 Center for the At-Risk Infant, Scientific Institute IRCCS Eugenio Medea, Lecco, Italy.

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http://dx.doi.org/10.3389/fendo.2017.00295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5671586PMC
October 2017

Complex effects of dyslexia risk factors account for ADHD traits: evidence from two independent samples.

J Child Psychol Psychiatry 2017 01 8;58(1):75-82. Epub 2016 Aug 8.

Child Psychopathology Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.

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http://dx.doi.org/10.1111/jcpp.12612DOI Listing
January 2017

Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.

J Child Neurol 2017 01 29;32(1):60-71. Epub 2016 Sep 29.

1 Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1177/0883073816664668DOI Listing
January 2017

Partial deletion of in a child with focal epilepsy.

Epilepsia Open 2016 12 25;1(3-4):140-144. Epub 2016 Aug 25.

Unit of Clinical Neurophysiology Scientific Institute, IRCCS Eugenio Medea Bosisio Parini Lecco Italy.

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http://doi.wiley.com/10.1002/epi4.12012
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http://dx.doi.org/10.1002/epi4.12012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5719828PMC
December 2016

SLC6A4 methylation as an epigenetic marker of life adversity exposures in humans: A systematic review of literature.

Neurosci Biobehav Rev 2016 Dec 24;71:7-20. Epub 2016 Aug 24.

0-3 Center for the at-Risk Infant, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, LC, Italy.

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http://dx.doi.org/10.1016/j.neubiorev.2016.08.021DOI Listing
December 2016

SLC6A4 promoter region methylation and socio-emotional stress response in very preterm and full-term infants.

Epigenomics 2016 07 6;8(7):895-907. Epub 2016 Jul 6.

Neuropsychiatry & Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, LC, Italy.

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http://dx.doi.org/10.2217/epi-2016-0010DOI Listing
July 2016

Effect of family structure and TPH2 G-703T on the stability of dysregulation profile throughout adolescence.

J Affect Disord 2016 Jan 4;190:576-584. Epub 2015 Nov 4.

Child Psychopathology Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1016/j.jad.2015.10.057DOI Listing
January 2016

Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.

Mol Cytogenet 2015 14;8:89. Epub 2015 Nov 14.

Unit of Clinical Neurophysiology, Scientific Institute IRCCS E. Medea, Bosisio Parini, LC Italy.

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http://dx.doi.org/10.1186/s13039-015-0193-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4650292PMC
November 2015

GRIN2B predicts attention problems among disadvantaged children.

Eur Child Adolesc Psychiatry 2015 Jul 16;24(7):827-36. Epub 2014 Oct 16.

Child Psychopathology Unit, Scientific Institute 'Eugenio Medea', Don L. Monza 20, Bosisio Parini (LC), Italy.

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http://dx.doi.org/10.1007/s00787-014-0627-7DOI Listing
July 2015

Pain-related stress during the Neonatal Intensive Care Unit stay and SLC6A4 methylation in very preterm infants.

Front Behav Neurosci 2015 21;9:99. Epub 2015 Apr 21.

0-3 Center for the Study of Social Emotional Development of the at-Risk Infant, Scientific Institute, IRCCS Eugenio Medea Bosisio Parini (LC), Italy.

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http://dx.doi.org/10.3389/fnbeh.2015.00099DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4403508PMC
May 2015

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.

Am J Med Genet A 2015 Apr 23;167A(4):810-5. Epub 2015 Feb 23.

Child Neurology and Psychiatry Unit, Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36907DOI Listing
April 2015

The role of DCDC2 genetic variants and low socioeconomic status in vulnerability to attention problems.

Eur Child Adolesc Psychiatry 2015 Mar 11;24(3):309-18. Epub 2014 Jul 11.

Child Psychopathology Unit, Scientific Institute 'Eugenio Medea', Don L. Monza 20, 23842, Bosisio Parini, LC, Italy,

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http://link.springer.com/content/pdf/10.1007/s00787-014-0580
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http://link.springer.com/10.1007/s00787-014-0580-5
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http://dx.doi.org/10.1007/s00787-014-0580-5DOI Listing
March 2015

GRIN2B mediates susceptibility to intelligence quotient and cognitive impairments in developmental dyslexia.

Psychiatr Genet 2015 Feb;25(1):9-20

aChild Psychopathology Unit, Department of Child Psychiatry bMolecular Biology Laboratory, Scientific Institute 'Eugenio Medea', Bosisio Parini (Lecco) cDevelopmental and Cognitive Neuroscience Lab, Department of General Psychology, University of Padua, Padua dRegional Reference Center for the Specific Learning Disability, ULSS 20, Verona, Italy eCentre de recherche de l'Institut universitaire en santé mentale de Québec fDepartment of Psychiatry and Neuroscience, Laval University, Québec, Canada.

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http://dx.doi.org/10.1097/YPG.0000000000000068DOI Listing
February 2015

The DCDC2/intron 2 deletion and white matter disorganization: focus on developmental dyslexia.

Cortex 2014 Aug 9;57:227-43. Epub 2014 May 9.

C.E.R.M.A.C. (Centro di Risonanza Magnetica ad Alto Campo), Milan, Italy; Department of Nuclear Medicine San Raffaele Hospital and Division of Neuroscience, Scientific Institute San Raffaele, Milan, Italy; Vita-Salute San Raffaele University, Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00109452140013
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http://dx.doi.org/10.1016/j.cortex.2014.04.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5975637PMC
August 2014

A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder.

Mol Cytogenet 2014 5;7:53. Epub 2014 Aug 5.

Unit for Severe Disabilities in Developmental Age, Scientific Insitute, IRCCs Eugenio Medea, Udine, Italy.

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http://dx.doi.org/10.1186/1755-8166-7-53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131807PMC
August 2014

Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.

Eur J Med Genet 2014 Jul 26;57(7):334-8. Epub 2014 Apr 26.

Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Via Don Luigi Monza, 20, 23842 Bosisio Parini, Lecco, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212140009
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http://dx.doi.org/10.1016/j.ejmg.2014.04.009DOI Listing
July 2014

KIAA0319 and ROBO1: evidence on association with reading and pleiotropic effects on language and mathematics abilities in developmental dyslexia.

J Hum Genet 2014 Apr 16;59(4):189-97. Epub 2014 Jan 16.

1] Centre de recherche de l'Institut universitaire en santé mentale de Québec, Québec, QC, Canada [2] Département de Psychiatrie et Neurosciences, Faculté de Médecine, Université Laval, Québec, QC, Canada.

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http://dx.doi.org/10.1038/jhg.2013.141DOI Listing
April 2014

8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3.

Mol Cytogenet 2013 Nov 8;6(1):49. Epub 2013 Nov 8.

Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Via Don Luigi Monza, 20, 23842 Bosisio Parini(LC), Italy.

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http://dx.doi.org/10.1186/1755-8166-6-49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4176195PMC
November 2013

Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements.

Eur J Hum Genet 2013 Jul 17;21(7):757-61. Epub 2012 Oct 17.

Molecular Biology Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.

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http://dx.doi.org/10.1038/ejhg.2012.235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722940PMC
July 2013

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

Eur J Med Genet 2013 Jan 18;56(1):54-8. Epub 2012 Oct 18.

Department of Molecular Medicine, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2012.10.002DOI Listing
January 2013

DCDC2 genetic variants and susceptibility to developmental dyslexia.

Psychiatr Genet 2012 Feb;22(1):25-30

Department of Child Psychiatry, Scientific Institute Eugenio Medea, Bosisio Parini, Italy.

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http://dx.doi.org/10.1097/YPG.0b013e32834acdb2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3232293PMC
February 2012

Cerebral responses to emotional expressions and the development of social anxiety disorder: a preliminary longitudinal study.

Depress Anxiety 2012 Jan 2;29(1):54-61. Epub 2011 Sep 2.

The Academic Centre for the Study of Behavioural Plasticity, "Vita-Salute" San Raffaele University, Milan, Italy.

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http://doi.wiley.com/10.1002/da.20896
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http://dx.doi.org/10.1002/da.20896DOI Listing
January 2012

Influence of the OPRM1 gene polymorphism upon children's degree of withdrawal and brain activation in response to facial expressions.

Dev Cogn Neurosci 2012 Jan 12;2(1):103-9. Epub 2011 May 12.

Academic Centre for the Study of Behavioural Plasticity, 'Vita-Salute' San Raffaele University, 20 via S. D'Ancona, 20127 Milan, Italy.

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http://dx.doi.org/10.1016/j.dcn.2011.05.001DOI Listing
January 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

XX males SRY negative: a confirmed cause of infertility.

J Med Genet 2011 Oct 7;48(10):710-2. Epub 2011 Jun 7.

Medical Genetics, University of Pavia, via Forlanini 14, 27100 Pavia, Italy.

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http://dx.doi.org/10.1136/jmedgenet-2011-100036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3178810PMC
October 2011

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.

Hum Mutat 2010 Dec 9;31(12):1352-9. Epub 2010 Nov 9.

Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

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http://dx.doi.org/10.1002/humu.21378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3056145PMC
December 2010

Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.

Hum Genet 2010 Oct 11;128(4):373-82. Epub 2010 Jul 11.

Dipartimento di Biomedicina dell'Età Evolutiva, Sezione di Genetica Medica, Università di Bari Aldo Moro, Policlinico Piazza G. Cesare 11, 70124, Bari, Italy.

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http://dx.doi.org/10.1007/s00439-010-0859-7DOI Listing
October 2010

COMT Val158Met polymorphism and socioeconomic status interact to predict attention deficit/hyperactivity problems in children aged 10-14.

Eur Child Adolesc Psychiatry 2010 Jul 28;19(7):549-57. Epub 2009 Nov 28.

Department of Child Psychiatry, Eugenio Medea Scientific Institute, via Don Luigi Monza 20, 23842, Bosisio Parini (LC), Italy.

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http://dx.doi.org/10.1007/s00787-009-0080-1DOI Listing
July 2010

The role played by the interaction between genetic factors and attachment in the stress response in infancy.

J Child Psychol Psychiatry 2009 Dec 22;50(12):1513-22. Epub 2009 Jul 22.

Eugenio Medea' Scientific Institute, Italy.

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http://dx.doi.org/10.1111/j.1469-7610.2009.02126.xDOI Listing
December 2009

The influence of family structure, the TPH2 G-703T and the 5-HTTLPR serotonergic genes upon affective problems in children aged 10-14 years.

J Child Psychol Psychiatry 2009 Mar 1;50(3):317-25. Epub 2008 Nov 1.

Department of Child Psychiatry, Eugenio Medea Scientific Institute, Bosisio Parini, Italy.

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http://dx.doi.org/10.1111/j.1469-7610.2008.01958.xDOI Listing
March 2009

Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1).

Eur J Hum Genet 2008 Aug 27;16(8):897-905. Epub 2008 Feb 27.

Molecular Biology Laboratory, E. Medea Scientific Institute, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1038/ejhg.2008.28DOI Listing
August 2008

Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant.

Eur J Med Genet 2008 Mar-Apr;51(2):148-55. Epub 2007 Dec 8.

IRCCS Eugenio Medea, Via Don Luigi Monza 20, 23842 Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2007.11.005DOI Listing
June 2008

DNA methylation regulates tissue-specific expression of Shank3.

J Neurochem 2007 Jun 10;101(5):1380-91. Epub 2007 Apr 10.

E. Medea Scientific Institute, Bosisio Parini, LC, Italy.

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http://dx.doi.org/10.1111/j.1471-4159.2007.04539.xDOI Listing
June 2007

Subtelomeric trisomy 21q: a new benign chromosomal variant.

Eur J Med Genet 2007 Jan-Feb;50(1):54-9. Epub 2006 Sep 10.

IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2006.07.001DOI Listing
March 2007

A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies.

Am J Med Genet A 2006 Jan;140(1):40-5

Laboratorio di Citogenetica, Istituto G. Gaslini, 16148 Genoa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.31044DOI Listing
January 2006

Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement?

Hum Genet 2005 Nov 15;118(2):207-13. Epub 2005 Nov 15.

Biologia Generale e Genetica Medic, Università di Pavia, Via forlanini, 14-27100, Pavia, Italy.

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http://dx.doi.org/10.1007/s00439-005-0008-xDOI Listing
November 2005

A family-based association study does not support DYX1C1 on 15q21.3 as a candidate gene in developmental dyslexia.

Eur J Hum Genet 2005 Apr;13(4):491-9

Department of Child Psychiatry, Scientific Institute 'Eugenio Medea', via Don L Monza 20, 23842 Bosisio Parini, Italy.

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http://www.nature.com/articles/5201356
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http://dx.doi.org/10.1038/sj.ejhg.5201356DOI Listing
April 2005

Influence of the serotonin transporter promoter gene and shyness on children's cerebral responses to facial expressions.

Arch Gen Psychiatry 2005 Jan;62(1):85-94

Department of Psychology, Vita-Salute San Raffaele University at the Department of Neuropsychiatric Sciences, Istituto Scientifico San Raffaele, Milan, Italy.

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http://dx.doi.org/10.1001/archpsyc.62.1.85DOI Listing
January 2005

Over-representation of exonic splicing enhancers in human intronless genes suggests multiple functions in mRNA processing.

Biochem Biophys Res Commun 2004 Sep;322(2):470-6

Scientific Institute IRCCS E. Medea, Associazione La Nostra Famiglia, 23842 Bosisio Parini (LC), Italy.

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http://dx.doi.org/10.1016/j.bbrc.2004.07.144DOI Listing
September 2004

A case-control and family-based association study of the 5-HTTLPR in pediatric-onset depressive disorders.

Biol Psychiatry 2004 Aug;56(4):292-5

Child Psychiatry Unit, Eugenio Medea Scientific Institute, Bosisio, Parini, Italy.

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http://dx.doi.org/10.1016/j.biopsych.2004.05.018DOI Listing
August 2004

Silencer elements as possible inhibitors of pseudoexon splicing.

Nucleic Acids Res 2004 19;32(5):1783-91. Epub 2004 Mar 19.

IRCCS E. Medea, Associazione La Nostra Famiglia, 23842 Bosisio Parini, LC, Italy.

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https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
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http://dx.doi.org/10.1093/nar/gkh341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC390338PMC
July 2004

Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot.

Hum Genet 2003 Mar 19;112(3):272-88. Epub 2002 Dec 19.

IRCCS E. Medea, Associazione La Nostra Famiglia, Via Don Luigi Monza 20, 23842, Bosisio Parini (LC), Italy.

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http://link.springer.de/link/service/journals/00439/contents
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http://dx.doi.org/10.1007/s00439-002-0881-5DOI Listing
March 2003