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Correspondence on "Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies" by Fountain et al

Genetics in medicine, 2021-02, Vol.23 (2), p.421-422

2021

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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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H1299R Variant in Factor V and Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis Protocol

Genes, 2022-06, Vol.13 (6), p.1019

2022

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Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

International journal of molecular sciences, 2021-01, Vol.22 (3), p.1190

2021

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Suicide Related Phenotypes in a Bipolar Sample: Genetic Underpinnings

Genes, 2021-09, Vol.12 (10), p.1482

2021

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Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature

Genes, 2022-03, Vol.13 (4), p.581

2022

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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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Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects

Molecular genetics & genomic medicine, 2019-09, Vol.7 (9), p.e896-n/a

2019

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NGAL as an Early Biomarker of Kidney Disease in Joubert Syndrome: Three Brothers Compared

Renal failure, 2012-05, Vol.34 (4), p.495-498

2012

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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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Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

European journal of human genetics : EJHG, 2023-03, Vol.31 (3), p.345-352

2023

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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

2015

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Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child

BMJ case reports, 2019-10, Vol.12 (10), p.e230152

2019

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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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Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13

American journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1734-1743

2014

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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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New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.162-169

2016

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Proteus syndrome: evaluation of the immunological profile

Orphanet journal of rare diseases, 2016-01, Vol.11 (3), p.3, Article 3

2016

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Correspondence on "Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies" by Fountain et al

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

H1299R Variant in Factor V and Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis Protocol

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

Suicide Related Phenotypes in a Bipolar Sample: Genetic Underpinnings

Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature

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

Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects

NGAL as an Early Biomarker of Kidney Disease in Joubert Syndrome: Three Brothers Compared

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

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

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

Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child

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

Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13

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

DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7

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

New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer

Proteus syndrome: evaluation of the immunological profile

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