Francesco Cali

Francesco Cali

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Francesco Cali

Francesco Cali

Publications by authors named "Francesco Cali"

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33Publications

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GRIN2A: involvement in movement disorders and intellectual disability without seizures.

Neurol Sci 2019 May 16. Epub 2019 May 16.

Oasi Research Institute-IRCCS, Troina, Italy.

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http://dx.doi.org/10.1007/s10072-019-03923-2DOI Listing
May 2019

Novel c.C2254T (p.Q752*) mutation in (SPG15) gene in a patient with hereditary spastic paraparesis.

J Genet 2018 Dec;97(5):1469-1472

Oasi Research Institute-IRCCS, Troina 94018, Italy.

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December 2018

Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy.

G Ital Dermatol Venereol 2018 May 16. Epub 2018 May 16.

Laboratory of Molecular Genetics, Oasi Research Institute-IRCCS, Troina, Enna, Italy.

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http://dx.doi.org/10.23736/S0392-0488.18.05931-XDOI Listing
May 2018

An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis.

Eur J Dermatol 2018 02;28(1):119-120

Oasi Institute for Research on Mental Retardation and Brain Aging(IRCCS) - Via Conte Ruggero, 73 - 94018 Troina (En), Italy.

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http://dx.doi.org/10.1684/ejd.2017.3186DOI Listing
February 2018

TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16.

Acta Neurol Belg 2017 Jul 19. Epub 2017 Jul 19.

IRCCS Associazione Oasi Maria SS Institute for Research on Mental Retardation and Brain Aging, Troina, Italy.

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http://dx.doi.org/10.1007/s13760-017-0818-3DOI Listing
July 2017

Dental anxiety in patients with borderline intellectual functioning and patients with intellectual disabilities.

BMC Oral Health 2016 Nov 3;16(1):114. Epub 2016 Nov 3.

Laboratory of Molecular Genetics, Unit of Medical Genetics, IRCCS AssociazioneOasi Maria SS, Troina (EN), Italy.

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http://dx.doi.org/10.1186/s12903-016-0312-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5093997PMC
November 2016

A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease.

G Ital Dermatol Venereol 2016 Oct;151(5):582-5

Laboratorio di Genetica Molecolare, Unità Operativa Complessa di Genetica Medica, IRCCS Associazione Oasi Maria SS., Troina, Enna, Italy -

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October 2016

Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation.

PLoS One 2014 25;9(3):e90947. Epub 2014 Mar 25.

Dipartimento di Fisica e Chimica, Università di Palermo, Palermo, Italy; U.O.C. di Genetica Medica Laboratorio di Genetica Molecolare, Associazione Oasi Maria SS. (I.R.C.C.S.), Troina, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0090947PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965395PMC
January 2015

Ancient human genomes suggest three ancestral populations for present-day Europeans.

Authors:
Iosif Lazaridis Nick Patterson Alissa Mittnik Gabriel Renaud Swapan Mallick Karola Kirsanow Peter H Sudmant Joshua G Schraiber Sergi Castellano Mark Lipson Bonnie Berger Christos Economou Ruth Bollongino Qiaomei Fu Kirsten I Bos Susanne Nordenfelt Heng Li Cesare de Filippo Kay Prüfer Susanna Sawyer Cosimo Posth Wolfgang Haak Fredrik Hallgren Elin Fornander Nadin Rohland Dominique Delsate Michael Francken Jean-Michel Guinet Joachim Wahl George Ayodo Hamza A Babiker Graciela Bailliet Elena Balanovska Oleg Balanovsky Ramiro Barrantes Gabriel Bedoya Haim Ben-Ami Judit Bene Fouad Berrada Claudio M Bravi Francesca Brisighelli George B J Busby Francesco Cali Mikhail Churnosov David E C Cole Daniel Corach Larissa Damba George van Driem Stanislav Dryomov Jean-Michel Dugoujon Sardana A Fedorova Irene Gallego Romero Marina Gubina Michael Hammer Brenna M Henn Tor Hervig Ugur Hodoglugil Aashish R Jha Sena Karachanak-Yankova Rita Khusainova Elza Khusnutdinova Rick Kittles Toomas Kivisild William Klitz Vaidutis Kučinskas Alena Kushniarevich Leila Laredj Sergey Litvinov Theologos Loukidis Robert W Mahley Béla Melegh Ene Metspalu Julio Molina Joanna Mountain Klemetti Näkkäläjärvi Desislava Nesheva Thomas Nyambo Ludmila Osipova Jüri Parik Fedor Platonov Olga Posukh Valentino Romano Francisco Rothhammer Igor Rudan Ruslan Ruizbakiev Hovhannes Sahakyan Antti Sajantila Antonio Salas Elena B Starikovskaya Ayele Tarekegn Draga Toncheva Shahlo Turdikulova Ingrida Uktveryte Olga Utevska René Vasquez Mercedes Villena Mikhail Voevoda Cheryl A Winkler Levon Yepiskoposyan Pierre Zalloua Tatijana Zemunik Alan Cooper Cristian Capelli Mark G Thomas Andres Ruiz-Linares Sarah A Tishkoff Lalji Singh Kumarasamy Thangaraj Richard Villems David Comas Rem Sukernik Mait Metspalu Matthias Meyer Evan E Eichler Joachim Burger Montgomery Slatkin Svante Pääbo Janet Kelso David Reich Johannes Krause

Nature 2014 Sep;513(7518):409-13

1] Institute for Archaeological Sciences, University of Tübingen, Tübingen 72074, Germany. [2] Senckenberg Centre for Human Evolution and Palaeoenvironment, University of Tübingen, 72070 Tübingen, Germany. [3] Max Planck Institut für Geschichte und Naturwissenschaften, Jena 07745, Germany.

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https://genetics.med.harvard.edu/reich/Reich_Lab/Welcome_fil
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http://biorxiv.org/content/biorxiv/early/2013/12/23/001552.f
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http://www.geo.uni-tuebingen.de/fileadmin/website/arbeitsber
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http://www.nature.com/doifinder/10.1038/nature13673
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http://dx.doi.org/10.1038/nature13673DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170574PMC
September 2014

Carrier screening for spinal muscular atrophy in Italian population.

J Genet 2014 Apr;93(1):179-81

Laboratorio di Genetica Molecolare, UOC di Genetica Medica, Associazione Oasi Maria SS. (I.R.C.C.S.), 94018 Troina (EN), Italy.

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April 2014

Functional annotation of genes overlapping copy number variants in autistic patients: focus on axon pathfinding.

Curr Genomics 2010 Apr;11(2):136-45

Dipartimento di Oncologia Sperimentale e Applicazioni Cliniche, Università degli Studi di Palermo, Palermo.

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http://dx.doi.org/10.2174/138920210790886880DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874223PMC
April 2010

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

Epilepsia 2007 Sep 18;48(9):1686-1690. Epub 2007 Jul 18.

Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2007.01173.xDOI Listing
September 2007

Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families.

Psychiatr Genet 2005 Jun;15(2):149-50

Dipartimento di Biopatologia e Metodologie Biomediche, Università degli Studi di Palermo, Palermo eIRCCS Oasi Maria SS, Troina (EN), Italy.

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June 2005

Cell line DNA typing in forensic genetics--the necessity of reliable standards.

Forensic Sci Int 2003 Dec;138(1-3):37-43

Institut für Rechtsmedizin, Otto-von-Guericke-Universität Magdeburg, Leipziger Strasse 44, 39120 Magdeburg, Germany.

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http://dx.doi.org/10.1016/j.forsciint.2003.09.002DOI Listing
December 2003

The phenylketonuria mouse model: a meeting review.

Mol Genet Metab 2002 Aug;76(4):256-61

Department of Biological Sciences, Wichita State University, Kansas, USA.

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August 2002

DXYS156: a multi-purpose short tandem repeat locus for determination of sex, paternal and maternal geographic origins and DNA fingerprinting.

Int J Legal Med 2002 Jun;116(3):133-8

Laboratorio di Genetica Molecolare, Istituto OASI Maria Santissima (I.R.C.C.S.), Troina, Italy.

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http://dx.doi.org/10.1007/s00414-001-0272-9DOI Listing
June 2002

Continental and subcontinental distributions of mtDNA control region types.

Int J Legal Med 2002 Apr;116(2):99-108

The McDonald Institute for Archaeological Research, University of Cambridge, England.

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April 2002