Publications by authors named "Marcella Zollino"

100Publications

Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.

Hum Mol Genet 2021 Jan 14. Epub 2021 Jan 14.

Adult NEMO Clinical Center, Unit of Neurology, Department of Aging, Neurological, Orthopedic and Head-Neck Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.

View Article and Find Full Text PDF
January 2021

Adult phenotype in Koolen-de Vries/ haploinsufficiency syndrome.

J Med Genet 2020 Dec 24. Epub 2020 Dec 24.

Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore Facoltà di Medicina e Chirurgia, Roma, Italy

View Article and Find Full Text PDF
December 2020

CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.

Eur J Med Genet 2020 Nov 18:104102. Epub 2020 Nov 18.

Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.

View Article and Find Full Text PDF
November 2020

Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in .

Genes (Basel) 2020 Oct 9;11(10). Epub 2020 Oct 9.

Sezione di Medicina Genomica, Dipartimento Scienze della Vita e Sanità Pubblica, Facoltà di Medicina e Chirurgia, Università Cattolica Sacro Cuore, 00168 Roma, Italy.

View Article and Find Full Text PDF
October 2020

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

Genes (Basel) 2020 Sep 24;11(10). Epub 2020 Sep 24.

Adult NEMO Clinical Center, Complex Operational Unit of Neurology, Department of Aging, Neurological, Orthopedic and Head-Neck Sciences, A. Gemelli University Hospital Foundation IRCCS, 00168 Roma, Italy.

View Article and Find Full Text PDF
September 2020

Langerhans cell histiocytosis in a young patient with Pitt-Hopkins syndrome.

Am J Med Genet A 2020 11 18;182(11):2746-2750. Epub 2020 Sep 18.

Rare Diseases and Genetic Unit, University Department of Paediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article and Find Full Text PDF
November 2020

Burkitt Lymphoma as Fourth Neoplasia in a Patient Affected by Cowden Syndrome with a Novel PTEN Germline Pathogenic Variant.

Mediterr J Hematol Infect Dis 2020 1;12(1):e2020034. Epub 2020 Jul 1.

Sezione di Ematologia, Dipartimento di Scienze Radiologiche ed Ematologiche, Università Cattolica del Sacro Cuore, Roma.

View Article and Find Full Text PDF
July 2020

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.

View Article and Find Full Text PDF
January 2020

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

Mol Genet Genomic Med 2019 08 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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
July 2019

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

Neurobiol Aging 2019 12 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:

View Article and Find Full Text PDF
December 2019

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.

View Article and Find Full Text PDF
August 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.

View Article and Find Full Text PDF
September 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:

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
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:

View Article and Find Full Text PDF
January 2017

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.

View Article and Find Full Text PDF
September 2015

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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
February 2016

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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
June 2014

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.

View Article and Find Full Text PDF
November 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.

View Article and Find Full Text PDF
December 2013

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.

View Article and Find Full Text PDF
December 2013

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.

View Article and Find Full Text PDF
May 2014

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.

View Article and Find Full Text PDF
April 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.

View Article and Find Full Text PDF
September 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.

View Article and Find Full Text PDF
September 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.

View Article and Find Full Text PDF
December 2012

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.

View Article and Find Full Text PDF
January 2013

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.

View Article and Find Full Text PDF
May 2012

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.

View Article and Find Full Text PDF
February 2013

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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
January 2012

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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
March 2011

Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome.

Eur J Hum Genet 2011 Feb 1;19(2):239-42. Epub 2010 Dec 1.

Istituto di Genetica Medica, Università Cattolica Sacro Cuore, Policlinico A. Gemelli, Roma, Italy.

View Article and Find Full Text PDF
February 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.

View Article and Find Full Text PDF
June 2010

Reply of the Authors: 45,X infertile males: not so rare.

Fertil Steril 2009 Oct 11;92(4):e50. Epub 2009 Sep 11.

Institute of Genetics, Catholic University of the Sacred Heart, Rome, Italy.

View Article and Find Full Text PDF
October 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.

View Article and Find Full Text PDF
May 2009