Antonio Novelli

Antonio Novelli

UNVERIFIED PROFILE

Are you Antonio Novelli?   Register this Author

Register author
Antonio Novelli

Antonio Novelli

Publications by authors named "Antonio Novelli"

Are you Antonio Novelli?   Register this Author

100Publications

1552Reads

37Profile Views

CUGC for lysinuric protein intolerance (LPI).

Eur J Hum Genet 2020 Aug 6;28(8):1129-1134. Epub 2020 Apr 6.

Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-020-0617-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7381597PMC
August 2020

Biallelic mutations in the gene cause a novel primary ciliopathy.

J Med Genet 2020 Aug 3. Epub 2020 Aug 3.

Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2020-106833DOI Listing
August 2020

A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations.

Am J Med Genet A 2020 07 2;182(7):1791-1795. Epub 2020 May 2.

Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61605DOI Listing
July 2020

Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication.

Neurol Sci 2020 Jun 11. Epub 2020 Jun 11.

Medical Genetics Laboratory, Clinical Genetics Division, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Circonvallazione Gianicolense 87, 00152, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-020-04510-6DOI Listing
June 2020

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.

J Inherit Metab Dis 2020 May 1;43(3):540-548. Epub 2020 Jan 1.

Reference Centre for Inborn Errors of Metabolism, Robert-Debré University Hospital, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12203DOI Listing
May 2020

KBG syndrome: Common and uncommon clinical features based on 31 new patients.

Am J Med Genet A 2020 05 3;182(5):1073-1083. Epub 2020 Mar 3.

Laboratory of Medical Genetics, Medical Genetics, Rare Diseases, Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61524DOI Listing
May 2020

PNPLA3 gene polymorphism is associated with liver steatosis in children with Down syndrome.

Nutr Metab Cardiovasc Dis 2020 May 28. Epub 2020 May 28.

Molecular Genetics of Complex Phenotypes Research Unit, Bambino Gesù Children's Hospital-IRCCS, Rome, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.numecd.2020.05.012DOI Listing
May 2020

The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype.

Clin Genet 2020 Apr 29;97(4):672-674. Epub 2020 Jan 29.

Medical Genetics Laboratory, Clinical Genetics Division, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13682DOI Listing
April 2020

Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers.

Int J Pediatr Otorhinolaryngol 2020 Feb 22;129:109790. Epub 2019 Nov 22.

Audiology and Otosurgery Unit, "Bambino Gesù" Pediatric Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2019.109790DOI Listing
February 2020

Providing more evidence on LZTR1 variants in Noonan syndrome patients.

Am J Med Genet A 2020 02 11;182(2):409-414. Epub 2019 Dec 11.

Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61445DOI Listing
February 2020

Novel Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.

Genes (Basel) 2019 11 25;10(12). Epub 2019 Nov 25.

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71043 San Giovanni Rotondo (Foggia), Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/genes10120967DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947605PMC
November 2019

X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients.

Exp Dermatol 2019 10 2;28(10):1156-1163. Epub 2018 Jul 2.

Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/exd.13667DOI Listing
October 2019

Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations.

Am J Med Genet A 2019 08 20;179(8):1570-1574. Epub 2019 May 20.

Medical Genetics Unit, Medical Genetics Laboratory, Neonatal Surgery Unit, Neonatal Intensive Care Unit, Scientific Rectorate, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61195
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.61195DOI Listing
August 2019

Novel clinical features associated with Clouston syndrome.

Int J Dermatol 2019 Aug 5;58(8):e143-e146. Epub 2019 Jun 5.

Unit of Dentistry, Bambino Gesù Children Hospital and Research Institute, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.14507DOI Listing
August 2019

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.

Neurogenetics 2019 08 17;20(3):145-154. Epub 2019 Jun 17.

Research Lab of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, IRCCS, 20145, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-019-00581-6DOI Listing
August 2019

Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy.

Acta Derm Venereol 2019 Jul;99(9):831-832

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Via dei Monti di Creta, 104, IT-00167 Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-3216DOI Listing
July 2019

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene.

Psychiatr Genet 2019 06;29(3):86-90

Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/YPG.0000000000000217DOI Listing
June 2019

Copy number variants in autism spectrum disorders.

Prog Neuropsychopharmacol Biol Psychiatry 2019 06 20;92:421-427. Epub 2019 Feb 20.

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pnpbp.2019.02.012DOI Listing
June 2019

Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies.

Acta Myol 2019 Jun 1;38(2):33-36. Epub 2019 Jun 1.

Cardiomiology and Medical Genetics, Department of Experimental Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598412PMC
June 2019

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.

Mol Genet Genomic Med 2019 05 27;7(5):e634. Epub 2019 Mar 27.

Division of Metabolism, Department of Pediatrics Specialties, Bambino Gesù Children's Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503021PMC
May 2019

Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1.

Eur J Med Genet 2019 Apr 23;62(4):243-247. Epub 2018 Jul 23.

Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183020
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.07.022DOI Listing
April 2019

A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome.

Clin Dysmorphol 2019 Apr;28(2):74-77

Division of Neonatology, Salesi Children's Hospital, Ancona.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000251DOI Listing
April 2019

Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary.

Int J Mol Sci 2019 Apr 16;20(8). Epub 2019 Apr 16.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Lucio Severi 1, 06132 Perugia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms20081875DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515070PMC
April 2019

Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease.

Ital J Pediatr 2019 Apr 18;45(1):49. Epub 2019 Apr 18.

Respiratory Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Piazza di Sant'Onofrio 4, 00165, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13052-019-0636-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6471850PMC
April 2019

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome.

Int J Mol Sci 2019 Mar 22;20(6). Epub 2019 Mar 22.

Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS 66160, USA.

View Article

Download full-text PDF

Source
https://www.mdpi.com/1422-0067/20/6/1459
Publisher Site
http://dx.doi.org/10.3390/ijms20061459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6470921PMC
March 2019

Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.

Am J Med Genet A 2019 02 18;179(2):317-321. Epub 2018 Dec 18.

Division of Neuromuscular and Neurodegenerative Disorders, IRCCS-Bambino Gesù Children's Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61006DOI Listing
February 2019

LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.

Am J Med Genet A 2019 01 18;179(1):104-112. Epub 2018 Dec 18.

Pediatric Cardiology and Arrhythmology Unit, Department of Pediatric Cardiology and Cardiac Surgery, IRCCS-Bambino Gesù Children Hospital and Research Institute, Rome, Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.10
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.10DOI Listing
January 2019

Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.

Am J Med Genet A 2019 01 20;179(1):113-117. Epub 2018 Dec 20.

Department of Pediatric Hematology/Oncology and Cellular and Gene Therapy, Bambino Gesù Children's Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.60674DOI Listing
January 2019

An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome.

Am J Med Genet A 2018 12 5;176(12):2781-2786. Epub 2018 Oct 5.

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.40488DOI Listing
December 2018

Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism.

J Pediatr 2018 11 5;202:272-278.e4. Epub 2018 Sep 5.

Division of Metabolic Diseases, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, Rome, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2018.06.050DOI Listing
November 2018

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.

BMC Med Genet 2018 09 15;19(1):170. Epub 2018 Sep 15.

Mechanical Assistance Device and Artificial Heart Unit, Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.

View Article

Download full-text PDF

Source
https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
Publisher Site
http://dx.doi.org/10.1186/s12881-018-0661-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139163PMC
September 2018

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.

Eur J Paediatr Neurol 2018 May 3;22(3):552-557. Epub 2018 Feb 3.

Medical Genetics Unit, Bambino Gesù Paediatric Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2018.01.024DOI Listing
May 2018

Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders.

J Autism Dev Disord 2018 02;48(2):442-449

Department of Neurosciences, Child Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10803-017-3329-4DOI Listing
February 2018

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Am J Med Genet A 2017 Nov 8;173(11):2912-2922. Epub 2017 Sep 8.

Medical Genetics Unit, Medical Genetics Laboratory, Pediatric Cardiology, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38417DOI Listing
November 2017

Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.

Am J Med Genet A 2017 Jul 10;173(7):1943-1946. Epub 2017 May 10.

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38269DOI Listing
July 2017

Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging.

Aging (Albany NY) 2017 05;9(5):1453-1469

Department of Neuroscience, Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, 00146, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.18632/aging.101248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472744PMC
May 2017

Reassessment of the 12q15 deletion syndrome critical region.

Eur J Med Genet 2017 Apr 31;60(4):220-223. Epub 2017 Jan 31.

Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2017.01.009DOI Listing
April 2017

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.

Brain Dev 2017 Feb 14;39(2):182-183. Epub 2016 Sep 14.

Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata IRCCS, Rome, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2016.08.010DOI Listing
February 2017

2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation.

Cytogenet Genome Res 2016 3;150(1):23-28. Epub 2016 Dec 3.

Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000452090DOI Listing
January 2017

Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome.

Am J Med Genet A 2016 10 11;170(10):2531-9. Epub 2016 Aug 11.

Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Calambrone, Pisa, Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.37844
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.37844DOI Listing
October 2016

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome.

Am J Med Genet A 2016 Mar 21;170(3):661-4. Epub 2015 Dec 21.

Medical Genetic Unit and Laboratory of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37503DOI Listing
March 2016

15q11.2 microdeletion and hypoplastic left heart syndrome.

Eur J Med Genet 2015 Nov 23;58(11):608-10. Epub 2015 Oct 23.

Centro di Consulenza Genetica e Teratologia della Riproduzione, Dipartimento Materno Infantile, ARNAS Garibaldi Nesima, Catania, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2015.09.012DOI Listing
November 2015

Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.

Eur J Med Genet 2015 Nov 23;58(11):629-33. Epub 2015 Oct 23.

Hunter Genetics, Newcastle, New South Wales, Australia; The University of Newcastle, School of Medicine and Public Health, Newcastle, New South Wales, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2015.10.006DOI Listing
November 2015

Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome.

Eur J Med Genet 2015 Aug 2;58(8):406-8. Epub 2015 Jul 2.

Scientific Directorate, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212150010
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2015.05.005DOI Listing
August 2015

The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review.

Case Rep Obstet Gynecol 2015 4;2015:830108. Epub 2015 May 4.

Department of Neurosciences, Reproductive Sciences and Odontostomatoloy, University of Naples Federico II, 80100 Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2015/830108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4434197PMC
June 2015