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Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic

Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.228-228, Article 228

2020

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Fetal growth patterns in Beckwith-Wiedemann syndrome

Clinical genetics, 2016-07, Vol.90 (1), p.21-27

2016

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Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

Epigenetics, 2018-09, Vol.13 (9), p.897-909

2018

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Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta

Calcified tissue international, 2018-03, Vol.102 (3), p.373-379

2018

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The clinical management of children with achondroplasia in Italy: results of clinician and parent/caregiver surveys

Journal of endocrinological investigation, 2024-02, Vol.47 (2), p.345-356

2024

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Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy

Italian journal of pediatrics, 2016-08, Vol.42 (1), p.76-76, Article 76

2016

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Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations

European journal of paediatric neurology, 2020-09, Vol.28, p.110-119

2020

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Bone involvement and mineral metabolism in Williams’ syndrome

Journal of endocrinological investigation, 2019-03, Vol.42 (3), p.337-344

2019

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De novo Deletion of 1q31.1–q32.1 in a Patient with Developmental Delay and Behavioral Disorders

Cytogenetic and genome research, 2012-04, Vol.136 (3), p.167-170

2012

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Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

Journal of medical genetics, 2001-06, Vol.38 (6), p.417-420

2001

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Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene

Ultrasound in obstetrics & gynecology, 2010-09, Vol.36 (3), p.315-323

2010

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253 (PB241): Targeting the HuR-RNA complexes as innovative strategy for glioblastoma treatment

European journal of cancer (1990), 2024-10, Vol.211, p.114770, Article 114770

2024

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Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

Molecular syndromology, 2011-05, Vol.1 (5), p.239-245

2011

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Cumming syndrome with heterotaxia, campomelia and absent uterus/fallopian tubes

American journal of medical genetics, 2005-01, Vol.132A (3), p.329-330

2005

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FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

American journal of human genetics, 2013-06, Vol.92 (6), p.990-995

2013

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13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients

Journal of medical genetics, 2007-01, Vol.44 (1), p.e60-e60

2007

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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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Nasopharyngeal teratoma and diaphragmatic hernia: a non random association?

Clinical dysmorphology, 2004-10, Vol.13 (4), p.255-256

2004

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Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression

Clinical dysmorphology, 2000-07, Vol.9 (3), p.157-162

2000

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Agenesis of the Corpus Callosum: Clinical and Genetic Study in 63 Young Patients

Pediatric neurology, 2006-03, Vol.34 (3), p.186-193

2006

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ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing

Meta Gene, 2013-12, Vol.1, p.102-108

2013

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Air Pollution and Respiratory Status in Asthmatic Children: Hints for a Locally Based Preventive Strategy. AIRE Study

European journal of epidemiology, 2004, Vol.19 (6), p.567-576

2004

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The Italian XLMR bank: a clinical and molecular database

Human mutation, 2007-01, Vol.28 (1), p.13-18

2007

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Treatment of tetanus

Rivista di patologia e clinica, 1951-09, Vol.6 (9), p.343

BEDESCHI, M

1951

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Biliary atresia and Kabuki syndrome: Another case with long-term follow-up

American journal of medical genetics, 2001-05, Vol.100 (3), p.251-251

2001

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Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic

Fetal growth patterns in Beckwith-Wiedemann syndrome

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta

The clinical management of children with achondroplasia in Italy: results of clinician and parent/caregiver surveys

Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy

Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations

Bone involvement and mineral metabolism in Williams’ syndrome

De novo Deletion of 1q31.1–q32.1 in a Patient with Developmental Delay and Behavioral Disorders

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene

253 (PB241): Targeting the HuR-RNA complexes as innovative strategy for glioblastoma treatment

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

Cumming syndrome with heterotaxia, campomelia and absent uterus/fallopian tubes

FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients

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

Nasopharyngeal teratoma and diaphragmatic hernia: a non random association?

Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression

Agenesis of the Corpus Callosum: Clinical and Genetic Study in 63 Young Patients

ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing

Air Pollution and Respiratory Status in Asthmatic Children: Hints for a Locally Based Preventive Strategy. AIRE Study

The Italian XLMR bank: a clinical and molecular database

Treatment of tetanus

Biliary atresia and Kabuki syndrome: Another case with long-term follow-up

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