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Gene-Environment Interaction in Childhood Asthma

International journal of immunopathology and pharmacology, 2011-10, Vol.24 (4_suppl), p.41-47

2011

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TLR2 and TLR4 Gene Polymorphisms and Atopic Dermatitis in Italian Children: A Multicenter Study

International journal of immunopathology and pharmacology, 2011-10, Vol.24 (4_suppl), p.33-40

2011

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LMNA gene mutation as a model of cardiometabolic dysfunction: From genetic analysis to treatment response

Diabetes & metabolism, 2014-06, Vol.40 (3), p.224-228

2014

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Upper Respiratory Tract Infection and Torticollis in Children

Clinical neuroradiology (Munich), 2012-12, Vol.22 (4), p.351

2012

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Upper Respiratory Tract Infection and Torticollis in Children: Differential diagnosis of Grisel’s Syndrome

Clinical neuroradiology (Munich), 2012-12, Vol.22 (4), p.351-353

2012

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Cadmium concentration in maternal and cord blood and infant birth weight: a study on healthy non-smoking women

Journal of perinatal medicine, 2002-01, Vol.30 (5), p.395-399

2002

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Molecular analysis of sequence variants in the Fcε receptor Iβ gene and IL-4 gene promoter in Italian atopic families

Allergy (Copenhagen), 2004-02, Vol.59 (2), p.213-218

2004

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Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis

Journal of medical genetics, 2002-09, Vol.39 (9), p.671-675

2002

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Age and sex prevalence estimate of Joubert syndrome in Italy

Neurology, 2020-02, Vol.94 (8)

2020

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SUN-451 UNRAVELING THE ROLE OF GENETIC VARIANTS OF NPHS2 GENE

Kidney international reports, 2020-03, Vol.5 (3), p.S382-S383

2020

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A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1

European journal of human genetics : EJHG, 2003-06, Vol.11 (6), p.433-436

2003

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Serum levels of malondialdehyde and 4-hydroxy-2,3-nonenal in patients affected by familial chronic nail candidiasis

Inflammation research, 2004-11, Vol.53 (11), p.601-603

2004

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Protein carbonyl group content in patients affected by familiar chronic nail candidiasis

Mediators of Inflammation, 2003-08, Vol.2003 (4), p.247-249

2003

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Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation

American journal of human genetics, 2003-09, Vol.73 (3), p.663-670

2003

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Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies

Pediatric research, 2004-12, Vol.56 (6), p.988-993

2004

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FTL +32G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: a New Italian Family

Journal of blood & lymph, 2017, Vol.7 (2)

2017

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Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

Orphanet journal of rare diseases, 2011-06, Vol.6 (1), p.36-36, Article 36

2011

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Serum Levels of Interleukin-18 in Splenectomized and Nonsplenectomized Thalassemic Patients: Preliminary Considerations

Acta haematologica, 2003-01, Vol.110 (1), p.45-47

2003

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Surgical site infections in Italian Hospitals: a prospective multicenter study

BMC infectious diseases, 2008-03, Vol.8 (1), p.34-34, Article 34

2008

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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

Clinical genetics, 2008-08, Vol.74 (2), p.164-170

2008

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Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay

Human mutation, 2003-06, Vol.21 (6), p.622-629

2003

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Cutis laxa in Kabuki make-up syndrome

Journal of the American Academy of Dermatology, 2005-11, Vol.53 (5), p.S247-S251

2005

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Disomy of distal Xq in males: Case report and overview

American journal of medical genetics. Part A, 2004-07, Vol.128A (2), p.165-169

2004

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A mitochondrial DNA mutation (A3243g mtDNA) in a family with cyclic vomiting

European journal of pediatrics, 2003-10, Vol.162 (10), p.727-728

2003

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Gene-Environment Interaction in Childhood Asthma

TLR2 and TLR4 Gene Polymorphisms and Atopic Dermatitis in Italian Children: A Multicenter Study

LMNA gene mutation as a model of cardiometabolic dysfunction: From genetic analysis to treatment response

Upper Respiratory Tract Infection and Torticollis in Children

Upper Respiratory Tract Infection and Torticollis in Children: Differential diagnosis of Grisel’s Syndrome

Cadmium concentration in maternal and cord blood and infant birth weight: a study on healthy non-smoking women

Molecular analysis of sequence variants in the Fcε receptor Iβ gene and IL-4 gene promoter in Italian atopic families

Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis

Age and sex prevalence estimate of Joubert syndrome in Italy

SUN-451 UNRAVELING THE ROLE OF GENETIC VARIANTS OF NPHS2 GENE

A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1

Serum levels of malondialdehyde and 4-hydroxy-2,3-nonenal in patients affected by familial chronic nail candidiasis

Protein carbonyl group content in patients affected by familiar chronic nail candidiasis

Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation

Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies

FTL +32G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: a New Italian Family

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

Serum Levels of Interleukin-18 in Splenectomized and Nonsplenectomized Thalassemic Patients: Preliminary Considerations

Surgical site infections in Italian Hospitals: a prospective multicenter study

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay

Cutis laxa in Kabuki make-up syndrome

Disomy of distal Xq in males: Case report and overview

A mitochondrial DNA mutation (A3243g mtDNA) in a family with cyclic vomiting

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