Paola Grammatico

Pubblicazioni

Titolo Pubblicato in Anno
Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearance AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 2022
Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB CLINICAL GENETICS 2022
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement GENETICS IN MEDICINE 2022
Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman PRENATAL DIAGNOSIS 2022
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report GENES 2022
Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants ARCHIVES DE PEDIATRIE 2022
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? EUROPEAN JOURNAL OF HUMAN GENETICS 2022
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations GENES 2022
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2? GENES 2022
Atypical variants in {COL}1A1 and {COL}3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports CLINICAL AND EXPERIMENTAL RHEUMATOLOGY 2022
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
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior GENETICS IN MEDICINE 2021
True conversions from RAS mutant to RAS wild-type in circulating tumor DNA from metastatic colorectal cancer patients as assessed by methylation and mutational signature CANCER LETTERS 2021
Altered expression of candidate genes in Mayer–Rokitansky–Küster–Hauser syndrome may influence vaginal keratinocytes biologya. A focus on Protein Kinase X BIOLOGY 2021
Comparison of two blood-based genotyping tests to investigate the KRAS G12C mutation in patients with non-small-cell lung cancer at failure of first-line treatments DIAGNOSTICS 2021
Use of DPB1 T-cell epitope algorithm among italian transplant centers: A survey on behalf of Associazione Italiana di Immunogenetica e Biologia dei Trapianti HLA 2021
Clinical and molecular aspects of the neurodevelopmental disorder associated with PAK3 perturbation JOURNAL OF MOLECULAR NEUROSCIENCE 2021
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion EUROPEAN JOURNAL OF MEDICAL GENETICS 2020
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE 2020
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype CLINICAL GENETICS 2020

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