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Protein-protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer-Rokitansky-Küster-Hauser syndrome

Scientific reports, 2021-01, Vol.11 (1), p.448-448, Article 448

2021

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Graft collection by apheresis and graft composition

Transfusion and apheresis science, 2024-06, Vol.63 (3), p.103924-103924, Article 103924

2024

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Altered Expression of Candidate Genes in Mayer–Rokitansky–Küster–Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X

Biology (Basel, Switzerland), 2021-05, Vol.10 (6), p.450

2021

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Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability

Diagnostics (Basel), 2020-11, Vol.10 (12), p.1009

2020

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Deletion 2p15–16.1 syndrome: Case report and review

American journal of medical genetics. Part A, 2011-10, Vol.155 (10), p.2473-2478

2011

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Array-based comparative genomic hybridization in early-stage mycosis fungoides: Recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF

Genes chromosomes & cancer, 2008-12, Vol.47 (12), p.1067-1075

2008

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2q31.2q32.3 deletion syndrome: Report of an adult patient

American journal of medical genetics. Part A, 2009-04, Vol.149A (4), p.706-712

2009

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Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

European journal of paediatric neurology, 2013-11, Vol.17 (6), p.589-599

2013

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Systemic ALK-negative anaplastic large cell lymphoma with distinctive myxoid change and DUSP22 rearrangement

Virchows Archiv : an international journal of pathology, 2022-12, Vol.481 (6), p.975-979

2022

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Correction to: Systemic ALK-negative anaplastic large cell lymphoma with distinctive myxoid change and DUSP22 rearrangement

Virchows Archiv : an international journal of pathology, 2022-11, Vol.481 (5), p.815-816

2022

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Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype

American journal of medical genetics. Part A, 2022-02, Vol.188 (2), p.692-707

2022

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A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis: narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disorders

European journal of medical genetics, 2019-09, Vol.62 (9), p.103558-103558, Article 103558

2019

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ALK-negative anaplastic large cell lymphoma with “Hodgkin-like” cytomorphology and nuclear expression of PAX5

Pathology, research and practice, 2020-02, Vol.216 (2), p.152724-152724, Article 152724

2020

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Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings

European journal of medical genetics, 2020-04, Vol.63 (4), p.103772-103772, Article 103772

2020

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Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)

Prenatal diagnosis, 2022-12, Vol.42 (13), p.1575-1586

2022

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Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth

Gene, 2014-02, Vol.536 (1), p.213-216

2014

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Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype–phenotype correlation

European journal of medical genetics, 2007-03, Vol.50 (2), p.94-102

2007

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De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies

Journal of pediatric genetics (Birmingham, Ala.), 2021-09, Vol.10 (3), p.245-249

2021

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An additional clinical sign of 17q21.31 microdeletion syndrome: Preaxial polydactyly of hands with broad thumbs

American journal of medical genetics. Part A, 2015-07, Vol.167A (7), p.1671-1673

2015

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A de novo 0.63Mb 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.167 (9), p.2042-2051

2015

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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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Interstitial 4q deletion associated with a mosaic complementary supernumerary marker chromosome in prenatal diagnosis

Prenatal diagnosis, 2013-08, Vol.33 (8), p.782-796

2013

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Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum

Human mutation, 2007-01, Vol.28 (1), p.98-98

2007

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3q29 microdeletion: A mental retardation disorder unassociated with a recognizable phenotype in two mother–daughter pairs

American journal of medical genetics. Part A, 2009-08, Vol.149A (8), p.1777-1781

2009

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Complex Rearrangement of Chromosome 7q21.13-q22.1 Confirms the Ectrodactyly-Deafness Locus and Suggests New Candidate Genes

American journal of medical genetics. Part A, 2008-01, Vol.146 (2), p.238-244

2008

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Protein-protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer-Rokitansky-Küster-Hauser syndrome

Graft collection by apheresis and graft composition

Altered Expression of Candidate Genes in Mayer–Rokitansky–Küster–Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X

Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability

Deletion 2p15–16.1 syndrome: Case report and review

Array-based comparative genomic hybridization in early-stage mycosis fungoides: Recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF

2q31.2q32.3 deletion syndrome: Report of an adult patient

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

Systemic ALK-negative anaplastic large cell lymphoma with distinctive myxoid change and DUSP22 rearrangement

Correction to: Systemic ALK-negative anaplastic large cell lymphoma with distinctive myxoid change and DUSP22 rearrangement

Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype

A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis: narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disorders

ALK-negative anaplastic large cell lymphoma with “Hodgkin-like” cytomorphology and nuclear expression of PAX5

Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings

Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)

Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth

Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype–phenotype correlation

De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies

An additional clinical sign of 17q21.31 microdeletion syndrome: Preaxial polydactyly of hands with broad thumbs

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

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

Interstitial 4q deletion associated with a mosaic complementary supernumerary marker chromosome in prenatal diagnosis

Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum

3q29 microdeletion: A mental retardation disorder unassociated with a recognizable phenotype in two mother–daughter pairs

Complex Rearrangement of Chromosome 7q21.13-q22.1 Confirms the Ectrodactyly-Deafness Locus and Suggests New Candidate Genes

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