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The trisomy 18 syndrome

Orphanet journal of rare diseases, 2012-10, Vol.7 (1), p.81-81

2012

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Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing

The Journal of pediatrics, 2019-08, Vol.211, p.54-62.e4

2019

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Celiac disease prevalence and predisposing‐HLA in a cohort of 93 Williams‐Beuren syndrome patients

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.84-89

2023

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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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Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients

American journal of medical genetics. Part C, Seminars in medical genetics, 2016-06, Vol.172C (2), p.206-213

2016

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Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management

Journal of cardiovascular development and disease, 2021-12, Vol.9 (1), p.2

2021

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Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome

Cell death discovery, 2021-02, Vol.7 (1), p.34-34, Article 34

2021

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Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

Molecular genetics & genomic medicine, 2020-03, Vol.8 (3), p.e1064-n/a

2020

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Genotype–phenotype correlations in a new case of 8p23.1 deletion and review of the literature

European journal of medical genetics, 2011-01, Vol.54 (1), p.55-59

2011

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Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

European journal of human genetics : EJHG, 2012-07, Vol.20 (7), p.734-741

2012

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Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.130-134

2016

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Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

Molecular cytogenetics, 2015-03, Vol.8 (1), p.20, Article 20

2015

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A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9

Glycobiology (Oxford), 2020-01, Vol.30 (2), p.95-104

2020

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Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation

Journal of autism and developmental disorders, 2022-11, Vol.52 (11), p.4763-4773

2022

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Double somatic mosaicism in Cornelia de Lange syndrome

American journal of medical genetics. Part A, 2024-05, Vol.194 (5), p.e63512-n/a

2024

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Rock around DYRK1A: Ethnic diversity, clinical challenges

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1459-1464

2023

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Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype

Clinical epigenetics, 2016-01, Vol.89 (1), p.74-81

2016

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Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

Journal of medical genetics, 2023-02, Vol.60 (2), p.163

2023

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Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2867-2871

2018

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Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): Preliminary results

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2014-04, Vol.165B (3), p.223-229

2014

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Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?

American journal of medical genetics. Part A, 2020-07, Vol.182 (7), p.1697-1703

2020

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Phenotypes and genotypes in individuals with SMC1A variants

American journal of medical genetics. Part A, 2017-08, Vol.173 (8), p.2108-2125

2017

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CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies

Journal of cellular physiology, 2016-03, Vol.231 (3), p.613-622

2016

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Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum

American journal of medical genetics. Part A, 2020-09, Vol.182 (9), p.2094-2101

2020

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The trisomy 18 syndrome

Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing

Celiac disease prevalence and predisposing‐HLA in a cohort of 93 Williams‐Beuren syndrome patients

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

Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients

Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management

Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

Genotype–phenotype correlations in a new case of 8p23.1 deletion and review of the literature

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9

Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation

Double somatic mosaicism in Cornelia de Lange syndrome

Rock around DYRK1A: Ethnic diversity, clinical challenges

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy

Cohesin complex-associated holoprosencephaly

Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): Preliminary results

Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?

Phenotypes and genotypes in individuals with SMC1A variants

CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies

Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum

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