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Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

Journal of Medical Genetics, 2006-01, Vol.43 (1), p.1-11

2006

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Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation

Clinical genetics, 2007-08, Vol.72 (2), p.98-108

2007

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Scoliosis with cognitive impairment in a girl with 8q11.21q11.23 microdeletion and SNTG1 disruption

Bone (New York, N.Y.), 2021-09, Vol.150, p.116022-116022, Article 116022

2021

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A polymorphic variant inside the osteopontin gene shows association with disease course in oligoarticular juvenile idiopathic arthritis

Annals of the rheumatic diseases, 2006-05, Vol.65 (5), p.662-665

2006

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Malformations following methimazole exposure in utero: An open issue

Birth defects research. A Clinical and molecular teratology, 2003-12, Vol.67 (12), p.989-992

2003

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EEC- and ADULT-Associated TP63 Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences

Human mutation, 2013-06, Vol.34 (6), p.894-904

2013

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The First Intron of the Human Osteopontin Gene Contains a C/EBP-Beta-Responsive Enhancer

Gene expression, 2003-01, Vol.11 (2), p.95-104

2003

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A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

Genetics in medicine, 2010-07, Vol.12 (7), p.431-439

2010

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Expanding CEP290 mutational spectrum in ciliopathies

American journal of medical genetics. Part A, 2009-10, Vol.149A (10), p.2173-2180

2009

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Auriculo-condylar syndrome or new syndrome?

Clinical dysmorphology, 2002-04, Vol.11 (2), p.143-144

2002

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Original Article: Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation

Clinical genetics, 2007-08, Vol.72 (2), p.98

2007

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Unilateral radio-ulnar synostosis associated with hypotonia, developmental delay, and facial dysmorphism

American journal of medical genetics. Part A, 2005-08, Vol.137A (1), p.106-108

2005

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How wide is the ocular spectrum of Delleman syndrome?

Clinical dysmorphology, 2004-01, Vol.13 (1), p.33-34

2004

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Auriculo-condylar syndrome or new syndrome?

Clinical dysmorphology, 2002, Vol.11 (2), p.143-144

2002

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Pathophysiology of Crohn's disease inflammation and recurrence

Biology direct, 2020-11, Vol.15 (1), p.23-23, Article 23

2020

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The Role of Inflammation in Crohn’s Disease Recurrence after Surgical Treatment

Journal of Immunology Research, 2020, Vol.2020, p.8846982-14

2020

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Molecular characterization of human Sapovirus in untreated sewage in Italy by amplicon‐based Sanger and next‐generation sequencing

Journal of applied microbiology, 2019-01, Vol.126 (1), p.324-331

2019

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Human bocavirus in children with acute gastroenteritis in Albania

Journal of medical virology, 2016-05, Vol.88 (5), p.906-910

2016

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The Role of Active Inflammation and Surgical Therapy in Crohn’s Disease Recurrence

Gastroenterology research and practice, 2020, Vol.2020, p.2845407-6

2020

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Norovirus molecular detection in Uruguayan sewage samples reveals a high genetic diversity and GII.4 variant replacement along time

Journal of applied microbiology, 2016-05, Vol.120 (5), p.1427-1435

2016

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Genetic Diversity of Human Adenovirus in Children with Acute Gastroenteritis, Albania, 2013–2015

BioMed research international, 2015-01, Vol.2015, p.142912-7

2015

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Frequent Detection and Genetic Diversity of Human Bocavirus in Urban Sewage Samples

Food and environmental virology, 2016-12, Vol.8 (4), p.289-295

2016

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Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

American journal of human genetics, 2019-10, Vol.105 (4), p.689-705

2019

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Surveillance of adenoviruses and noroviruses in European recreational waters

Water research (Oxford), 2011-01, Vol.45 (3), p.1025-1038

2011

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Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation

Scoliosis with cognitive impairment in a girl with 8q11.21q11.23 microdeletion and SNTG1 disruption

A polymorphic variant inside the osteopontin gene shows association with disease course in oligoarticular juvenile idiopathic arthritis

Malformations following methimazole exposure in utero: An open issue

EEC- and ADULT-Associated TP63 Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

The First Intron of the Human Osteopontin Gene Contains a C/EBP-Beta-Responsive Enhancer

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

Expanding CEP290 mutational spectrum in ciliopathies

Auriculo-condylar syndrome or new syndrome?

Original Article: Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation

Unilateral radio-ulnar synostosis associated with hypotonia, developmental delay, and facial dysmorphism

How wide is the ocular spectrum of Delleman syndrome?

Auriculo-condylar syndrome or new syndrome?

Pathophysiology of Crohn's disease inflammation and recurrence

The Role of Inflammation in Crohn’s Disease Recurrence after Surgical Treatment

Molecular characterization of human Sapovirus in untreated sewage in Italy by amplicon‐based Sanger and next‐generation sequencing

Human bocavirus in children with acute gastroenteritis in Albania

The Role of Active Inflammation and Surgical Therapy in Crohn’s Disease Recurrence

Norovirus molecular detection in Uruguayan sewage samples reveals a high genetic diversity and GII.4 variant replacement along time

Genetic Diversity of Human Adenovirus in Children with Acute Gastroenteritis, Albania, 2013–2015

Frequent Detection and Genetic Diversity of Human Bocavirus in Urban Sewage Samples

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Surveillance of adenoviruses and noroviruses in European recreational waters

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