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The Approach to a Child with Dysmorphic Features: What the Pediatrician Should Know

Children (Basel), 2024-05, Vol.11 (5), p.578

2024

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Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.1-201, Article 201

2020

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Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients

Genes, 2022-07, Vol.13 (7), p.1275

2022

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Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients

American journal of medical genetics. Part A, 2018-01, Vol.176 (1), p.187-193

2018

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2684 DIAGNOSTIC YIELD OF A TARGETED GENE PANEL FOR MONOGENIC KIDNEY DISEASES: A EUROPEAN STUDY

Nephrology, dialysis, transplantation, 2023-06, Vol.38 (Supplement_1)

2023

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Cannonball-Like Lung Nodules in a Patient With a Colorectal Tumor

Chest, 2019-10, Vol.156 (4), p.e85-e89

2019

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Townes-Brocks syndrome with craniosynostosis in two siblings

European journal of medical genetics, 2022-12, Vol.65 (12), p.104642-104642, Article 104642

2022

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Copy Number Variation Analysis Increases the Number of Candidate Loci Associated with Pediatric Obesity

Hormone research in paediatrics, 2021, Vol.94 (7-8), p.251-262

2021

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Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings

European journal of medical genetics, 2021-02, Vol.64 (2), p.104136-104136, Article 104136

2021

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Correspondence on “Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6‐CDG”

American journal of medical genetics. Part A, 2022-01, Vol.188 (1), p.382-383

2022

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Correspondence on "Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities," by Carmignac et al

Genetics in medicine, 2021-11, Vol.23 (11), p.2223-2224

2021

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Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1405-1417

2021

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Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome

European journal of medical genetics, 2019-10, Vol.62 (10), p.103727-103727, Article 103727

2019

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Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy

Rheumatology (Oxford, England), 2010-06, Vol.49 (6), p.1056-1062

2010

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Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes

Journal of the neurological sciences, 1996-10, Vol.142 (1-2), p.140-147

1996

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Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

Human mutation, 2009-03, Vol.30 (3), p.E500-E519

2009

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Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations

European journal of medical genetics, 2013-08, Vol.56 (8), p.404-410

2013

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Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers

Human mutation, 1997, Vol.10 (6), p.458-464

1997

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Determinants of cognitive disorders in Autosomal Dominant Cerebellar Ataxia type 1

Journal of the neurological sciences, 1998-05, Vol.157 (2), p.162-167

1998

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Increased incidence of preeclampsia in pregnancies complicated by fetal malformation

Gynecologic and obstetric investigation, 1997, Vol.44 (2), p.107

1997

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Dietary recommendations for prevention of atherosclerosis

Cardiovascular research, 2022-03, Vol.118 (5), p.1188-1204

2022

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Consumption of Dairy Foods and Cardiovascular Disease: A Systematic Review

Nutrients, 2022-02, Vol.14 (4), p.831

2022

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White Meat Consumption, All-Cause Mortality, and Cardiovascular Events: A Meta-Analysis of Prospective Cohort Studies

Nutrients, 2021-02, Vol.13 (2), p.676

2021

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Authors reply to: Limitations of the glycaemic index and the need for nuance when determining carbohydrate quality, by Mitch Kanter, Siddhartha Angadi, Julie Miller Jones, Katherine A. Beals

Cardiovascular research, 2022-03, Vol.118 (5), p.e40-e41

2022

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The Approach to a Child with Dysmorphic Features: What the Pediatrician Should Know

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients

Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients

2684 DIAGNOSTIC YIELD OF A TARGETED GENE PANEL FOR MONOGENIC KIDNEY DISEASES: A EUROPEAN STUDY

Cannonball-Like Lung Nodules in a Patient With a Colorectal Tumor

Townes-Brocks syndrome with craniosynostosis in two siblings

Copy Number Variation Analysis Increases the Number of Candidate Loci Associated with Pediatric Obesity

Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings

Correspondence on “Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6‐CDG”

Correspondence on "Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities," by Carmignac et al

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome

Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy

Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases

Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations

Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers

Determinants of cognitive disorders in Autosomal Dominant Cerebellar Ataxia type 1

Increased incidence of preeclampsia in pregnancies complicated by fetal malformation

Dietary recommendations for prevention of atherosclerosis

Consumption of Dairy Foods and Cardiovascular Disease: A Systematic Review

White Meat Consumption, All-Cause Mortality, and Cardiovascular Events: A Meta-Analysis of Prospective Cohort Studies

Authors reply to: Limitations of the glycaemic index and the need for nuance when determining carbohydrate quality, by Mitch Kanter, Siddhartha Angadi, Julie Miller Jones, Katherine A. Beals

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