Publications by authors named "Livia Garavelli"

81Publications

Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy.

Parkinsonism Relat Disord 2020 Jun 1;76:54-55. Epub 2020 Jun 1.

Dipartimento Materno-Infantile, Struttura Complessa di Neuropsichiatria Infantile, Arcispedale Santa Maria Nuova, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2020.05.031DOI Listing
June 2020

Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23).

J Hum Genet 2020 Jul 10. Epub 2020 Jul 10.

Medical Genetics Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1038/s10038-020-0800-4DOI Listing
July 2020

Alazami syndrome: the first case of papillary thyroid carcinoma.

J Hum Genet 2020 Jan 28;65(2):133-141. Epub 2019 Oct 28.

Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

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http://dx.doi.org/10.1038/s10038-019-0682-5DOI Listing
January 2020

Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study.

Sleep Med 2019 09 26;61:44-51. Epub 2019 Apr 26.

Child Neurology and Psychiatry Unit, Department of Medical and Surgical Sciences (DIMEC), S. Orsola Hospital, University of Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.sleep.2019.04.011DOI Listing
September 2019

Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients.

Pediatr Rep 2018 Mar 29;10(1):7514. Epub 2018 Mar 29.

Department of Pediatrics, Castelli Hospital, Verbania.

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http://dx.doi.org/10.4081/pr.2018.7514DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5907729PMC
March 2018

Complex cranio-vertebral malformation: disruption sequence or iniencephaly?

Clin Dysmorphol 2018 Jul;27(3):105-108

Department of Pediatrics, University of Lausanne and Lausanne University Hospital, Lausanne, Switzerland.

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http://dx.doi.org/10.1097/MCD.0000000000000218DOI Listing
July 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.

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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

Metabolically based liver damage pathophysiology in patients with urea cycle disorders - A new hypothesis.

World J Gastroenterol 2017 Nov;23(44):7930-7938

School of Medicine University of Belgrade, Belgrade 11000, Serbia.

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http://dx.doi.org/10.3748/wjg.v23.i44.7930DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5703922PMC
November 2017

Natural history and life-threatening complications in Myhre syndrome and review of the literature.

Eur J Pediatr 2016 Oct 25;175(10):1307-15. Epub 2016 Aug 25.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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http://dx.doi.org/10.1007/s00431-016-2761-3DOI Listing
October 2016

RIN2 syndrome: Expanding the clinical phenotype.

Am J Med Genet A 2016 09 8;170(9):2408-15. Epub 2016 Jun 8.

Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.

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http://doi.wiley.com/10.1002/ajmg.a.37789
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http://dx.doi.org/10.1002/ajmg.a.37789DOI Listing
September 2016

Cryptic 13q34 and 4q35.2 Deletions in an Italian Family.

Cytogenet Genome Res 2015 9;147(1):24-30. Epub 2015 Dec 9.

Regional Reference Centre for Inherited Bleeding Disorders, University Hospital of Parma, Parma, Italy.

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http://dx.doi.org/10.1159/000442068DOI Listing
June 2016

Xp11.22 Microduplications Including HUWE1: Case Report and Literature Review.

Neuropediatrics 2016 Jan 20;47(1):51-6. Epub 2015 Nov 20.

Child Neuropsychiatry Unit, Mother and Child Department, University-Hospital of Parma, Parma, Italy.

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http://dx.doi.org/10.1055/s-0035-1566233DOI Listing
January 2016

Mitotic crossover promotes leukemogenesis in children born with TEL-AML1 via the generation of loss of heterozygosity at 12p.

Pediatr Med Chir 2015 Jun 30;37(2):pmc.2015.112. Epub 2015 Jun 30.

School of Medicine, University of Belgrade, Serbia; Struttura Semplice Dipartimentale di Genetica Clinica, Dipartimento Ostetrico-Ginecologico e Pediatrico, Istituto di Ricovero e Cura a Carattere Scientifico Arcispedale S. Maria Nuova, Reggio Emilia.

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http://dx.doi.org/10.4081/pmc.2015.112DOI Listing
June 2015

Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.

Gene 2015 Apr 14;559(2):144-8. Epub 2015 Jan 14.

Unit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1016/j.gene.2015.01.026DOI Listing
April 2015

SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.

Eur J Med Genet 2015 Feb 23;58(2):66-70. Epub 2014 Dec 23.

Department of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.12.005DOI Listing
February 2015

Ten-year longitudinal study of thyroid function in children with Down's syndrome.

Horm Res Paediatr 2014 5;82(2):113-21. Epub 2014 Jul 5.

Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.

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http://dx.doi.org/10.1159/000362450DOI Listing
May 2015

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

Hum Genet 2014 Sep 7;133(9):1161-7. Epub 2014 Jun 7.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1007/s00439-014-1456-yDOI Listing
September 2014

PRKACB and Carney complex.

N Engl J Med 2014 Mar 26;370(11):1065-7. Epub 2014 Feb 26.

University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1056/NEJMc1309730DOI Listing
March 2014

Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.

Am J Med Genet A 2014 Apr 23;164A(4):1015-20. Epub 2014 Jan 23.

Neonatologic Unit, Obstetric and Paediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, S. Maria Nuova Hospital, Reggio Emilia, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.36376
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http://dx.doi.org/10.1002/ajmg.a.36376DOI Listing
April 2014

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.

Am J Med Genet A 2013 Nov 7;161A(11):2894-901. Epub 2013 Oct 7.

Clinical Genetics Unit, Obstetric and Paediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale S Maria Nuova, Reggio Emilia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36259DOI Listing
November 2013

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.

Eur J Hum Genet 2014 Jul 21;22(7):888-95. Epub 2013 Aug 21.

1] Department of Pediatrics, Institute for Metabolic and Genetic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands [2] Hayward Genetics Center, Tulane University Medical Center, New Orleans, LA, USA.

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http://dx.doi.org/10.1038/ejhg.2013.154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060105PMC
July 2014

Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.

Am J Med Genet A 2013 Jul 21;161A(7):1750-4. Epub 2013 May 21.

Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35964DOI Listing
July 2013

Maternal exposure to magnetic fields from high-voltage power lines and the risk of birth defects.

Bioelectromagnetics 2012 Jul;33(5):405-9

CREAGEN-Environmental, Genetic and Nutritional Epidemiology Research Center, Department of Public Health Sciences, University of Modena and Reggio Emilia, Reggio Emilia, Italy.

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http://dx.doi.org/10.1002/bem.21700DOI Listing
July 2012

Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.

Am J Med Genet A 2012 Sep 17;158A(9):2245-9. Epub 2012 Jul 17.

Clinical Genetics Unit-Obstetric and Pediatric Department, Arcispedale Santa Maria Nuova, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35474DOI Listing
September 2012

Familial Poland anomaly revisited.

Am J Med Genet A 2012 Jan 22;158A(1):140-9. Epub 2011 Nov 22.

Cardiology and Cardiosurgical Department, Bambino Gesù Pediatric Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.34370DOI Listing
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.

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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

Novel mutations in the L1CAM gene support the complexity of L1 syndrome.

J Neurol Sci 2010 Jul 5;294(1-2):124-6. Epub 2010 May 5.

Department of Biology, University of Padova, Via G. Colombo 3, 35135 Padova, Italy.

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http://dx.doi.org/10.1016/j.jns.2010.03.030DOI Listing
July 2010

Current themes in molecular pediatrics: molecular medicine and its applications.

Ital J Pediatr 2010 Feb 19;36:20. Epub 2010 Feb 19.

Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1186/1824-7288-36-20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2844384PMC
February 2010

Risk of congenital anomalies around a municipal solid waste incinerator: a GIS-based case-control study.

Int J Health Geogr 2009 Feb 10;8. Epub 2009 Feb 10.

CREAGEN - Environmental, Genetic and Nutritional Epidemiology Research Center, Department of Public Health Sciences, University of Modena and Reggio Emilia, Reggio Emilia, Italy.

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http://dx.doi.org/10.1186/1476-072X-8-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2652434PMC
February 2009

Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.

Am J Med Genet A 2008 Dec;146A(23):3095-9

Laboratory of Genetics, Galliera Hospital, and Department of Neuroscience, Ophthalmology and Genetics, University of Genova, Genova, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32568DOI Listing
December 2008

Mowat-Wilson syndrome.

Orphanet J Rare Dis 2007 Oct 24;2:42. Epub 2007 Oct 24.

Clinical Genetics Unit, Obstetric and Pediatric Department, S, Maria Nuova Hospital, Reggio Emilia, Italy.

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http://dx.doi.org/10.1186/1750-1172-2-42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2174447PMC
October 2007

Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1.

Acta Biomed 2005 Apr;76(1):45-8

Department of Pediatrics, S. Maria Nuova Hospital, Reggio Emilia, Italy.

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April 2005

Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.

Am J Med Genet A 2004 May;127A(1):93-5

Department of Pediatrics and Clinical Genetics, S. Maria Nuova Hospital, 80-42100 Reggio Emilia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.20685DOI Listing
May 2004

Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome.

Am J Med Genet A 2004 Apr;126A(2):204-7

Istituto di Genetica Medica, Università Cattolica del S. Cuore, Facoltà di Medicina, Largo Francesco Vito 1, 00168 Rome, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.20575
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http://dx.doi.org/10.1002/ajmg.a.20575DOI Listing
April 2004