Publications by authors named "Marcello Niceta"

40Publications

Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia.

J Steroid Biochem Mol Biol 2020 04 2;198:105554. Epub 2019 Dec 2.

Dipartimento di Promozione Della Salute, Materno-Infantile, Medicina Interna e Specialistica Di Eccellenza "G. D'Alessandro" (PROMISE), Sezione Di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jsbmb.2019.105554DOI Listing
April 2020

Anti-Hypothalamus and Anti-Pituitary Auto-antibodies in ROHHAD Syndrome: Additional Evidence Supporting an Autoimmune Etiopathogenesis.

Horm Res Paediatr 2019 30;92(2):124-132. Epub 2019 Apr 30.

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

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http://dx.doi.org/10.1159/000499163DOI Listing
May 2020

Expanding the clinical spectrum associated with PACS2 mutations.

Clin Genet 2019 04 28;95(4):525-531. Epub 2019 Feb 28.

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

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http://dx.doi.org/10.1111/cge.13516DOI Listing
April 2019

A Child with Diminished Linear Growth and Waddling Gait.

J Pediatr 2018 10 8;201:297-297.e1. Epub 2018 May 8.

University of Trieste Trieste, Italy; Pediatrics Institute for Maternal and Child Health-IRCCS "Burlo Garofolo" Trieste, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S00223476183049
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http://dx.doi.org/10.1016/j.jpeds.2018.04.007DOI Listing
October 2018

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.

Eur J Paediatr Neurol 2017 Nov 22;21(6):873-883. Epub 2017 Jul 22.

Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2017.07.009DOI Listing
November 2017

Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.

Am J Med Genet A 2017 Jul 7;173(7):1965-1969. Epub 2017 May 7.

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

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http://dx.doi.org/10.1002/ajmg.a.38255DOI Listing
July 2017

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.

Brain 2017 06;140(6):e34

Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1093/brain/awx083DOI Listing
June 2017

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.

Clin Genet 2018 02 25;93(2):401-407. Epub 2017 Apr 25.

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

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http://dx.doi.org/10.1111/cge.13029DOI Listing
February 2018

Vitiligo susceptibility and catalase gene polymorphisms in Sicilian population.

G Ital Dermatol Venereol 2018 Oct 15;153(5):619-623. Epub 2017 Feb 15.

Department of Dermatology, University of Palermo, Palermo, Italy.

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http://dx.doi.org/10.23736/S0392-0488.17.05488-8DOI Listing
October 2018

Development of S/MAR minicircles for enhanced and persistent transgene expression in the mouse liver.

J Mol Med (Berl) 2011 May 8;89(5):515-29. Epub 2011 Feb 8.

Gene Therapy Research Group, Section of Molecular Medicine, National Heart and Lung Institute, Imperial College London, London, UK.

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http://dx.doi.org/10.1007/s00109-010-0713-3DOI Listing
May 2011

Refractory acne and 21-hydroxylase deficiency in a selected group of female patients.

Dermatology 2010 29;220(2):121-7. Epub 2010 Jan 29.

Department of Dermatology, University of Palermo, Palermo, Italy.

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http://dx.doi.org/10.1159/000277608DOI Listing
June 2010

Novel human pathological mutations. Gene symbol: F8. Disease: Haemophilia A.

Hum Genet 2010 Jan;127(1):115

Medical Genetics, A.O.V. Cervello, via Trabucco, 180, 90146, Palermo, Italy.

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January 2010

Novel human pathological mutations. Gene symbol: F8. Disease: Haemophilia A.

Hum Genet 2010 Jan;127(1):113

Laboratory of Medical Genetics, A. O. V. CERVELLO, via Trabucco, 180, 90146, Palermo, Italy.

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January 2010

Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III.

Am J Med Genet A 2009 Aug;149A(8):1837-41

Dipartimento Materno Infantile, Università degli Studi di Palermo, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32952DOI Listing
August 2009

Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.

Eur J Pediatr 2009 Sep 6;168(9):1135-9. Epub 2008 Dec 6.

Dipartimento Materno Infantile, Università di Palermo, via Cardinale Rampolla 1, Palermo 90142, Italy.

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http://dx.doi.org/10.1007/s00431-008-0884-xDOI Listing
September 2009

Gene symbol: f9.

Hum Genet 2007 Apr;121(2):297

A.O.V. Cervello, Palermo, Trabucco, 180, 90146, Palermo, Italy.

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April 2007