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Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

Brain & development (Tokyo. 1979), 2015-05, Vol.37 (5), p.527-536

2015

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Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

Neurogenetics, 2010-02, Vol.11 (1), p.73-80

2010

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Pseudo-TORCH syndrome or Baraitser-Reardon syndrome : diagnostic criteria

Brain & development (Tokyo. 1979), 2001-03, Vol.23 (1), p.18-23

2001

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Evaluation of Tibial Osteopathy Occurrence in Neurofibromatosis Type 1 Italian Patients

American journal of medical genetics. Part A, 2013-05, Vol.161A (5), p.927-934

2013

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Quantitative Ultrasound and Dual-Energy X-ray Absorptiometry in Children and Adolescents With Neurofibromatosis of Type 1

Journal of clinical densitometry, 2010, Vol.13 (1), p.77-83

2010

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Epilepsy in Neurofibromatosis 1

Journal of child neurology, 2003-05, Vol.18 (5), p.338-342

2003

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Nucleotide variation in Sabin type 2 poliovirus from an immunodeficient patient with poliomyelitis

Journal of general virology, 2003-05, Vol.84 (5), p.1215-1221

2003

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Late-onset childhood occipital epilepsy (Gastaut type): A family study

European journal of paediatric neurology, 2008-09, Vol.12 (5), p.421-426

2008

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GM2 gangliosidosis variant B1: Neuroradiological findings

Journal of neurology, 2003, Vol.250 (1), p.17-21

2003

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Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria

Brain & development (Tokyo. 1979), 2001-03, Vol.23 (1), p.18

2001

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Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene

Human genetics, 2000-10, Vol.107 (4), p.366-371

2000

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Craniofacial dyssynostosis: Case report and review

American journal of medical genetics. Part A, 2004-09, Vol.129A (3), p.300-302

2004

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GM2 gangliosidosis variant B1

Journal of neurology, 2003-01, Vol.250 (1), p.17-21

2003

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Diagnosis of neurofibromatosis type 1 using RFLPs tightly linked to gene

Child's nervous system, 1993-06, Vol.9 (3), p.147-149

1993

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Chromosome abnormalities in tuberous sclerosis

Human genetics, 1988-06, Vol.79 (2), p.151-156

1988

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A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosomes 2;7 and 5;20

Human genetics, 1988-08, Vol.79 (4), p.385-388

1988

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Craniofacial dyssynostosis: Case report and review

American Journal of Medical Genetics Part A, 2004, Vol.129A (3), p.300-302

2004

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Gut Microbiota and Cancer: From Pathogenesis to Therapy

Cancers, 2019-01, Vol.11 (1), p.38

2019

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Lactobacillus rhamnosus GG cell-free supernatant as a novel anti-cancer adjuvant

Journal of translational medicine, 2023-03, Vol.21 (1), p.195-195, Article 195

2023

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An Ex Vivo Test of Complement Activation on Endothelium for Individualized Eculizumab Therapy in Hemolytic Uremic Syndrome

American journal of kidney diseases, 2019-07, Vol.74 (1), p.56-72

2019

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Long-Term Macular Vascular Changes after Primary Rhegmatogenous Retinal Detachment Surgery Resolved with Different Tamponade or Different Surgical Techniques

Life (Basel, Switzerland), 2022-09, Vol.12 (10), p.1525

2022

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Complement gene variants determine the risk of immunoglobulin-associated MPGN and C3 glomerulopathy and predict long-term renal outcome

Molecular immunology, 2016-03, Vol.71, p.131-142

2016

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Early Structural and Vascular Changes after Within-24 Hours Vitrectomy for Recent Onset Rhegmatogenous Retinal Detachment Treatment: A Pilot Study Comparing Bisected Macula and Not Bisected Macula

Journal of clinical medicine, 2022-06, Vol.11 (12), p.3498

2022

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Sperm epigenetics and sperm RNAs as drivers of male infertility: truth or myth?

Molecular and cellular biochemistry, 2024-05

2024

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Cluster Analysis Identifies Distinct Pathogenetic Patterns in C3 Glomerulopathies/Immune Complex-Mediated Membranoproliferative GN

Journal of the American Society of Nephrology, 2018-01, Vol.29 (1), p.283-294

2018

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Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

Pseudo-TORCH syndrome or Baraitser-Reardon syndrome : diagnostic criteria

Evaluation of Tibial Osteopathy Occurrence in Neurofibromatosis Type 1 Italian Patients

Quantitative Ultrasound and Dual-Energy X-ray Absorptiometry in Children and Adolescents With Neurofibromatosis of Type 1

Epilepsy in Neurofibromatosis 1

Nucleotide variation in Sabin type 2 poliovirus from an immunodeficient patient with poliomyelitis

Late-onset childhood occipital epilepsy (Gastaut type): A family study

GM2 gangliosidosis variant B1: Neuroradiological findings

Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria

Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene

Craniofacial dyssynostosis: Case report and review

GM2 gangliosidosis variant B1

Diagnosis of neurofibromatosis type 1 using RFLPs tightly linked to gene

Chromosome abnormalities in tuberous sclerosis

A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosomes 2;7 and 5;20

Craniofacial dyssynostosis: Case report and review

Gut Microbiota and Cancer: From Pathogenesis to Therapy

Lactobacillus rhamnosus GG cell-free supernatant as a novel anti-cancer adjuvant

An Ex Vivo Test of Complement Activation on Endothelium for Individualized Eculizumab Therapy in Hemolytic Uremic Syndrome

Long-Term Macular Vascular Changes after Primary Rhegmatogenous Retinal Detachment Surgery Resolved with Different Tamponade or Different Surgical Techniques

Complement gene variants determine the risk of immunoglobulin-associated MPGN and C3 glomerulopathy and predict long-term renal outcome

Early Structural and Vascular Changes after Within-24 Hours Vitrectomy for Recent Onset Rhegmatogenous Retinal Detachment Treatment: A Pilot Study Comparing Bisected Macula and Not Bisected Macula

Sperm epigenetics and sperm RNAs as drivers of male infertility: truth or myth?

Cluster Analysis Identifies Distinct Pathogenetic Patterns in C3 Glomerulopathies/Immune Complex-Mediated Membranoproliferative GN

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