Marcella Zollino

Marcella Zollino

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Marcella Zollino

Publications by authors named "Marcella Zollino"

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Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers.

Acta Derm Venereol 2020 Jan 23;100(1):adv00038. Epub 2020 Jan 23.

Institute of Genomic Medicine, F. Policlinico Gemelli IRCCS, Università Cattolica del Sacro Cuore, Largo F. Vito 1, IT-00168 Rome, Italy.

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http://dx.doi.org/10.2340/00015555-3370DOI Listing
January 2020

Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS.

Neurobiol Aging 2019 Dec 27;84:239.e9-239.e14. Epub 2019 Mar 27.

Centro Clinico NEMO, Roma, Italy; Dipartimento Scienze dell'invecchiamento, Neurologiche, Ortopediche e della testa-collo, Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Neurologia, Roma, Italy; Università Cattolica del Sacro Cuore, Istituto di Neurologia, Roma, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.03.010DOI Listing
December 2019

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.

Mol Genet Genomic Med 2019 Aug 9;7(8):e845. Epub 2019 Jul 9.

Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari "Aldo Moro", Bari, Italy.

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http://dx.doi.org/10.1002/mgg3.845DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687641PMC
August 2019

Pembrolizumab as first-line treatment for metastatic uveal melanoma.

Cancer Immunol Immunother 2019 Jul 7;68(7):1179-1185. Epub 2019 Jun 7.

Department of Medical Oncology, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Università Cattolica del Sacro Cuore, L.go F. Vito 1, 00168, Rome, Italy.

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http://dx.doi.org/10.1007/s00262-019-02352-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6584707PMC
July 2019

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

Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism.

J Hum Genet 2018 Aug 8;63(8):859-861. Epub 2018 Jun 8.

Institute of Genomic Medicine, Catholic University, A. Gemelli Foundation, Rome, Italy.

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http://www.nature.com/articles/s10038-018-0476-1
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http://dx.doi.org/10.1038/s10038-018-0476-1DOI Listing
August 2018

ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis.

Neurobiol Aging 2018 04 28;64:157.e1-157.e5. Epub 2017 Nov 28.

Department of Geriatrics, Neurosciences and Orthopedics, Clinic Center NEMO-Roma, Institute of Neurology, Catholic University School of Medicine, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.11.011DOI Listing
April 2018

Oligonephronia and Wolf-Hirschhorn syndrome: A further observation.

Am J Med Genet A 2018 02 28;176(2):409-414. Epub 2017 Nov 28.

Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38554DOI Listing
February 2018

"Minimal" holoprosencephaly in a 14q deletion syndrome patient.

Am J Med Genet A 2017 Dec;173(12):3216-3220

Institute of Medical Genetics, Catholic University School of Medicine, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38378DOI Listing
December 2017

Matrin 3 variants are frequent in Italian ALS patients.

Neurobiol Aging 2017 01 6;49:218.e1-218.e7. Epub 2016 Oct 6.

Department of Geriatrics, Neurosciences and Orthopedics, Clinic Center NEMO-Roma, Institute of Neurology, Catholic University School of Medicine, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.09.023DOI Listing
January 2017

A girl with a 14.7 Mb 3q26.32-q28 duplication: a new report of 3q duplication syndrome and a literature review.

Clin Dysmorphol 2016 Jul;25(3):121-7

aUnit of Pediatrics and Pediatric Emergency bUnit of Orthopedics, University Hospital 'Policlinico Vittorio Emanuele' cDepartment of Clinical and Experimental Medicine dDepartment of Clinical and Molecular Biomedicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania eInstitute of Medical Genetics, Catholic University, University Hospital A. Gemelli, Rome, Italy.

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http://dx.doi.org/10.1097/MCD.0000000000000119DOI Listing
July 2016

New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.

Brain Pathol 2016 Mar;26(2):266-75

Institute of Medical Genetics, Catholic University School of Medicine, Rome, Italy.

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http://dx.doi.org/10.1111/bpa.12354DOI Listing
March 2016

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

Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge.

J Pediatr Genet 2015 Sep 25;4(3):168-76. Epub 2015 Sep 25.

Department of Laboratory Medicine, Institute of Medical Genetics, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1055/s-0035-1564570DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918722PMC
September 2015

Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype.

Eur J Med Genet 2015 Aug 24;58(8):400-5. Epub 2015 Jun 24.

Institute of Medical Genetics, Università Cattolica S. Cuore, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.06.001DOI Listing
August 2015

Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.

Ital J Pediatr 2015 Aug 5;41:55. Epub 2015 Aug 5.

Institute of Medical Genetics, Catholic University, University Hospital A. Gemelli, Rome, Italy.

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http://dx.doi.org/10.1186/s13052-015-0161-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526284PMC
August 2015

ATXN2 polyQ intermediate repeats are a modifier of ALS survival.

Neurology 2015 Jan 19;84(3):251-8. Epub 2014 Dec 19.

From the ALS Center (A. Chiò, A. Calvo, C.M., A. Canosa, M. Brunetti, M. Barberis), "Rita Levi Montalcini" Department of Neuroscience, University of Torino; the Laboratory of Molecular Genetics (M. Brunetti, M. Barberis, G.R.), Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino (A. Chiò, A. Calvo); the Neuroscience Institute of Torino (NIT) (A. Chiò, A. Calvo); the Departments of Neurosciences, Ophthalmology, Genetics, Rehabilitation, and Child Health (A. Canosa), University of Genoa; the Neurological Institute (A. Conte, G.B., M.S.) and the Institute of Medical Genetics (G. Marangi, A.M., S.L., M.Z.), Catholic University of the Sacred Heart, Rome; the Department of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases (IRCAD) (M. Bagarotti, L.C., S.D.), and the Department of Neurology (E.B., L.M.), "Amedeo Avogadro" University of Eastern Piedmont, Novara; the Salvatore Maugeri Foundation (A.B.), IRCSS, Pavia; the Scientific Institute of Milan (G. Mora); and Azienda Ospedaliera Universitaria Maggiore della Carità (E.B., L.M.), Novara, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000001159DOI Listing
January 2015

Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience.

J Neurol Sci 2014 Jun 31;341(1-2):46-50. Epub 2014 Mar 31.

Dept. of Geriatrics, Neurosciences & Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy.

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http://dx.doi.org/10.1016/j.jns.2014.03.046DOI Listing
June 2014

Genetic counselling in ALS: facts, uncertainties and clinical suggestions.

J Neurol Neurosurg Psychiatry 2014 May 6;85(5):478-85. Epub 2013 Jul 6.

Department of Neuroscience, ALS Center, 'Rita Levi Montalcini', University of Torino, Torino, and Azienda Ospedaliera Città della Salute e della Scienza, , Torino, Italy.

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http://jnnp.bmj.com/content/early/2013/07/05/jnnp-2013-30554
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http://jnnp.bmj.com/cgi/doi/10.1136/jnnp-2013-305546
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http://dx.doi.org/10.1136/jnnp-2013-305546DOI Listing
May 2014

Spinal hemangioblastoma presenting with low back pain in pregnancy.

Spine J 2013 Dec 17;13(12):e27-9. Epub 2013 Sep 17.

Institute of Neurology, Campus Bio-Medico University, Via Álvaro del Portillo 200, 00128 Rome, Italy; Fondazione Alberto Sordi, Research Institute for Ageing, Via Álvaro del Portillo 5, 00128 Rome, Italy.

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http://dx.doi.org/10.1016/j.spinee.2013.07.428DOI Listing
December 2013

Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients.

Epilepsia 2013 Dec 1;54(12):2204-13. Epub 2013 Oct 1.

Child Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1111/epi.12393DOI Listing
December 2013

Encomium: Giovanni Neri--polyhedral and down-to-earth mentor.

Am J Med Genet A 2013 Nov 3;161A(11):2687-90. Epub 2013 Oct 3.

Chair of Medical Genetics, Department of Biomedical, Clinical and Experimental Sciences, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36261DOI Listing
November 2013

Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature.

Neurol Sci 2013 Sep 24;34(9):1705-7. Epub 2012 Dec 24.

Institute of Neurology, Catholic University of the Sacred Heart, Largo F. Vito 1, 00168, Rome, Italy.

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http://dx.doi.org/10.1007/s10072-012-1277-5DOI Listing
September 2013

A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Sep 3;14(5-6):470-2. Epub 2013 Jan 3.

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

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http://www.tandfonline.com/doi/full/10.3109/21678421.2012.75
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http://dx.doi.org/10.3109/21678421.2012.756036DOI Listing
September 2013

A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene.

Turk J Pediatr 2012 Sep-Oct;54(5):523-7

Department of Pediatrics, Gülhane Military Medical Academy, Haydarpaşa Training Hospital, Istanbul.

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April 2013

TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.

Eur J Hum Genet 2013 Feb 2;21(2):229-32. Epub 2012 May 2.

Istituto di Genetica Medica, Università Cattolica Sacro Cuore, Largo Francesco Vito 1, Rome, Italy.

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http://dx.doi.org/10.1038/ejhg.2012.79DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548258PMC
February 2013

Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Jan 18;14(1):66-9. Epub 2012 Jun 18.

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

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http://dx.doi.org/10.3109/17482968.2012.692383DOI Listing
January 2013

Linguistic and psychomotor development in children with chromosome 14 deletions.

Clin Linguist Phon 2012 Dec;26(11-12):962-73

Department of Psychology, University of Milano-Bicocca, Milan, Italy.

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http://dx.doi.org/10.3109/02699206.2012.728669DOI Listing
December 2012

Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.

Am J Med Genet A 2012 Jul 7;158A(7):1604-11. Epub 2012 Jun 7.

Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Roma, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35419DOI Listing
July 2012

The ring 14 syndrome.

Eur J Med Genet 2012 May 14;55(5):374-80. Epub 2012 Apr 14.

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

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http://dx.doi.org/10.1016/j.ejmg.2012.03.009DOI 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

P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis.

Neuromuscul Disord 2012 Jan 9;22(1):73-5. Epub 2011 Sep 9.

Istituto di Neurologia, Università Cattolica del Sacro Cuore, L.go A. Gemelli 8, 00168 Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966110133
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http://dx.doi.org/10.1016/j.nmd.2011.08.003DOI Listing
January 2012

SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant.

Neurobiol Aging 2011 Oct 28;32(10):1924.e15-8. Epub 2011 May 28.

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.04.004DOI Listing
October 2011

Clinical utility gene card for: Mowat-Wilson syndrome.

Eur J Hum Genet 2011 Aug 23;19(8). Epub 2011 Feb 23.

Institute of Medical Genetics A Gemelli Catholic University of Rome, Rome, Italy.

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http://dx.doi.org/10.1038/ejhg.2011.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3172917PMC
August 2011

A novel L67P SOD1 mutation in an Italian ALS patient.

Amyotroph Lateral Scler 2011 Mar 19;12(2):150-2. Epub 2011 Jan 19.

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

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http://dx.doi.org/10.3109/17482968.2011.551939DOI Listing
March 2011

A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus.

J Med Genet 2010 Jun 20;47(6):429-32. Epub 2009 Oct 20.

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

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http://dx.doi.org/10.1136/jmg.2009.071142DOI Listing
June 2010

SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis.

Amyotroph Lateral Scler 2009 Oct-Dec;10(5-6):479-82

Istituto di Neurologia, Università Cattolica del Sacro Cuore Rome, Italy.

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http://dx.doi.org/10.3109/17482960802302261DOI Listing
February 2010

Phenotypic map in ring 14 syndrome.

Am J Med Genet A 2010 Jan;152A(1):237

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http://doi.wiley.com/10.1002/ajmg.a.33169
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http://dx.doi.org/10.1002/ajmg.a.33169DOI Listing
January 2010

The ring 14 syndrome: clinical and molecular definition.

Am J Med Genet A 2009 Jun;149A(6):1116-24

Istituto di Genetica Medica, Università Cattolica del S. Cuore, Roma, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32831DOI Listing
June 2009

Ocular manifestations in Wolf-Hirschhorn syndrome.

J AAPOS 2009 Jun;13(3):264-7

Ophtalmology Institute, Catholic University of Rome, Rome, Italy.

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http://dx.doi.org/10.1016/j.jaapos.2009.02.011DOI Listing
June 2009

Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication.

Am J Med Genet A 2009 May;149A(5):1033-5

Molecular Medicine, Azienda Ospedaliera Universitaria Senese, Siena, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32785DOI Listing
May 2009

An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.

Neurogenetics 2009 Apr 20;10(2):151-5. Epub 2008 Nov 20.

Molecular Medicine and Neurology, IRCCS Bambino Gesù Children's Hospital, Piazza S. Onofrio, 4 00165, Rome, Italy.

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http://dx.doi.org/10.1007/s10048-008-0159-8DOI Listing
April 2009

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

A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age.

Fertil Steril 2008 Nov 7;90(5):2011.e17-21. Epub 2008 Sep 7.

Catholic University of the Sacred Heart, Rome, Italy.

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http://dx.doi.org/10.1016/j.fertnstert.2008.07.1723DOI Listing
November 2008

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

Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.

Am J Med Genet C Semin Med Genet 2008 Nov;148C(4):270-4

ARUP Laboratories, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1002/ajmg.c.30188DOI Listing
November 2008

Sex reversal from functional disomy of Xp: prenatal and post-mortem findings.

Am J Med Genet A 2008 Oct;146A(20):2681-7

U. O. Pediatria e Terapia Intensiva Neonatale, Dipartimento Materno Infantile, Università degli Studi di Palermo, Palermo, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32514DOI Listing
October 2008

Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype.

Am J Med Genet A 2008 Sep;146A(18):2313-7

Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Roma, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32460DOI Listing
September 2008

A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.

Muscle Nerve 2008 Aug;38(2):1060-4

Istituto di Neurologia, Università Cattolica del Sacro Cuore, Pol. A Gemelli Largo Gemelli 8, Rome, Italy.

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http://dx.doi.org/10.1002/mus.21083DOI Listing
August 2008