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Molecular Pathways within Autism Spectrum Disorder Endophenotypes

Journal of molecular neuroscience, 2021-07, Vol.71 (7), p.1357-1367

2021

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Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

BMC pediatrics, 2024-04, Vol.24 (1), p.271-271, Article 271

2024

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A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review

BMC medical genomics, 2023-12, Vol.16 (1), p.315-315, Article 315

2023

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Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype -phenotype correlations

European journal of human genetics : EJHG, 2009-06, Vol.17 (6), p.733-740

2009

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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

Brain (London, England : 1878), 2020-04, Vol.143 (4), p.1114-1126

2020

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Serum interleukin 17, interleukin 23, and interleukin 10 values in children with atopic eczema/dermatitis syndrome (AEDS): association with clinical severity and phenotype

Allergy and asthma proceedings, 2015-01, Vol.36 (1), p.74-81

2015

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Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

European journal of human genetics : EJHG, 2024-08, Vol.32 (8), p.954-963

2024

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FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family

Pediatric and developmental pathology, 2018-09, Vol.21 (5), p.456-460

2018

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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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Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long-term follow-up

Epilepsia (Copenhagen), 2012-06, Vol.53 (6), p.e102-e105

2012

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Genetic analysis of the human insulin-like 3 gene in pediatric patients with testicular torsion

Pediatric surgery international, 2018-07, Vol.34 (7), p.807-812

2018

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A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity

American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.2042-2051

2015

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Autoimmune liver disease in Noonan Syndrome

European journal of medical genetics, 2015-03, Vol.58 (3), p.188-190

2015

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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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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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Increased protein carbonyl groups in the serum of patients affected by thalassemia major

Annals of hematology, 2006-08, Vol.85 (8), p.520-522

2006

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Hallerman-Streiff syndrome: Patient with decreased GH and insulin-like growth factor-1

American journal of medical genetics. Part A, 2004-03, Vol.125A (2), p.216-218

2004

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Molecular Pathways within Autism Spectrum Disorder Endophenotypes

Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype -phenotype correlations

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

Serum interleukin 17, interleukin 23, and interleukin 10 values in children with atopic eczema/dermatitis syndrome (AEDS): association with clinical severity and phenotype

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family

Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects

Disomy of distal Xq in males: Case report and overview

Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long-term follow-up

Genetic analysis of the human insulin-like 3 gene in pediatric patients with testicular torsion

CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity

Autoimmune liver disease in Noonan Syndrome

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

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

Increased protein carbonyl groups in the serum of patients affected by thalassemia major

Hallerman-Streiff syndrome: Patient with decreased GH and insulin-like growth factor-1

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