M. Mariani

发表

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature

S. Manoukian, D. Milani, D. Giardino, 2018, Molecular Cytogenetics.

ANKRD11 variants: KBG syndrome and beyond

E. Zackai, H. Hakonarson, D. Horn, 2021, Clinical genetics.

Burden of care in families of patients with rare genetic diseases: analysis of a large Italian cohort.

A. Selicorni, F. Meroni, P. Cianci, 2021, European journal of medical genetics.

Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?

A. Selicorni, C. Gervasini, A. Biondi, 2016, American journal of medical genetics. Part A.

Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome

A. Selicorni, V. Massa, L. Avagliano, 2017, Orphanet Journal of Rare Diseases.

A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome

P. Rebora, A. Selicorni, C. Gervasini, 2016, American journal of medical genetics. Part C, Seminars in medical genetics.

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

C. Pantaleoni, F. Natacci, E. Cattaneo, 2022, International journal of molecular sciences.

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

W. Chung, R. Nussbaum, F. Couch, 2016, Breast Cancer Research and Treatment.

Fetal growth patterns in Beckwith–Wiedemann syndrome

M. Cubellis, G. Ferrero, A. Selicorni, 2016, Clinical genetics.

Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort

A. Selicorni, C. Gervasini, C. Fossati, 2018, American journal of medical genetics. Part A.

Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation

F. Dall’ara, G. Michelini, P. Vizziello, 2021, Journal of Autism and Developmental Disorders.

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

D. Lazarević, P. Krawitz, E. Watrin, 2016, Clinical genetics.

Expanding the clinical spectrum of the ‘HDAC8‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction

T. Strom, D. Wieczorek, E. Watrin, 2016, Clinical genetics.

Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum

A. Selicorni, V. Massa, M. Mariani, 2021, Genes.

Increased access to TP53 analysis through breast cancer multi-gene panels: clinical considerations

S. Manoukian, B. Peissel, J. Azzollini, 2017, Familial Cancer.

Patients with DeSanto–Shinawi syndrome: Further extension of phenotype from Italy

S. Banfi, A. Selicorni, S. Maitz, 2022, American journal of medical genetics. Part A.

Germline mosaicism in cornelia de lange syndrome: Dilemmas and risk figures

A. Selicorni, S. Maitz, C. Gervasini, 2013, American journal of medical genetics. Part A.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Joseph P. McCleery, R. Hennekam, Z. Tümer, 2018, Nature Reviews Genetics.

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

B. Puisac, M. Arnedo, P. Gómez-Puertas, 2021, Scientific Reports.

De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype

W. Chung, E. Roeder, C. Saunders, 2020, American journal of medical genetics. Part A.

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes

J. Ganesh, I. Krantz, H. Hakonarson, 2015, Human mutation.

De Novo Heterozygous Mutations in SMC 3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes Marı́a

J. Ganesh, I. Krantz, H. Hakonarson, 2015 .

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Joseph P. McCleery, R. Hennekam, Z. Tümer, 2018, Nature Reviews Genetics.

(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome

M. Cubellis, G. Ferrero, A. Selicorni, 2015, European Journal of Human Genetics.

Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases

M. Maghnie, G. Scuvera, P. Modena, 2021, Genes.

Chromatinopathies: A focus on Cornelia de Lange syndrome

F. Kaiser, A. Selicorni, V. Massa, 2019, Clinical genetics.

Association of breast cancer risk in BRCA 1 and BRCA 2 mutation carriers with genetic variants showing differential allelic expression

R. Nussbaum, F. Couch, O. Olopade, 2016 .

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

A. Selicorni, S. Maitz, C. Fossati, 2020, American journal of medical genetics. Part A.

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

G. Zampino, A. Selicorni, C. Fossati, 2020, American journal of medical genetics. Part A.

Cervical spine malformation in cornelia de lange syndrome: A report of three patients

C. Giussani, A. Selicorni, C. Gervasini, 2014, American Journal of Medical Genetics. Part A.

Williams-Beuren Syndrome and celiac disease: A real association?

A. Selicorni, S. Maitz, C. Fossati, 2020, European journal of medical genetics.

A new report of Cornelia de Lange syndrome associated with split hand and feet

A. Selicorni, C. Gervasini, A. Biondi, 2012, American journal of medical genetics. Part A.

Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series

A. Zanella, A. Pesenti, A. Selicorni, 2016, American journal of medical genetics. Part C, Seminars in medical genetics.

FOXI3 pathogenic variants cause one form of craniofacial microsomia

J. Lupski, Xiaogang Wang, S. Antonarakis, 2023, Nature Communications.

Partial duplication of the PARK2 gene in a child with developmental delay and her normal mother: A second report

L. Dalprà, A. Selicorni, C. Fossati, 2013, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.

Increased access to TP53 analysis through breast cancer multi-gene panels: clinical considerations

S. Manoukian, B. Peissel, J. Azzollini, 2017, Familial Cancer.

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

A. Selicorni, S. Maitz, C. Gervasini, 2016, American journal of medical genetics. Part C, Seminars in medical genetics.

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature

S. Manoukian, D. Milani, D. Giardino, 2018, Molecular Cytogenetics.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome

R. Tenconi, J. Wierzba, A. Selicorni, 2021, Cell death discovery.

Lithium ameliorates Cornelia de Lange syndrome associated phenotypes in experimental models

R. Tenconi, J. Wierzba, A. Selicorni, 2020, bioRxiv.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Joseph P. McCleery, R. Hennekam, Z. Tümer, 2018, Nature Reviews Genetics.

Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature

A. Selicorni, A. Torella, V. Nigro, 2022, American journal of medical genetics. Part A.

Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Matteo Bellini, A. Selicorni, D. Milani, 2023, Molecular genetics & genomic medicine.

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

D. Lazarević, P. Krawitz, E. Watrin, 2016, Clinical Genetics.