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Article ; Online: Reply to Fry, L.E.; MacLaren, R.E. Comment on "Di Giosaffatte et al. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could

Di Giosaffatte, Niccolò / Grammatico, Paola / Bottillo, Irene

2023 Volume 14, Issue 12

Abstract: We express our gratitude to Dr. Fry and Prof. McLaren [ ... ]. ...

Abstract	We express our gratitude to Dr. Fry and Prof. McLaren [...].
MeSH term(s)	Humans ; Female ; Choroideremia/genetics ; Adaptor Proteins, Signal Transducing/genetics
Chemical Substances	Adaptor Proteins, Signal Transducing ; CHM protein, human
Language	English
Publishing date	2023-11-29
Publishing country	Switzerland
Document type	Case Reports ; Journal Article
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14122161
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Article ; Online: Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearance.

Pascolini, Giulia / Gnazzo, Maria / Novelli, Antonio / Grammatico, Paola

American journal of medical genetics. Part A

2022 Volume 188, Issue 5, Page(s) 1623–1625

MeSH term(s)	Abnormalities, Multiple/genetics ; Bone Diseases, Developmental/genetics ; Facies ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Methyltransferases/genetics ; Phenotype ; Tooth Abnormalities/genetics
Chemical Substances	Methyltransferases (EC 2.1.1.-) ; SETD5 protein, human (EC 2.1.1.-)
Language	English
Publishing date	2022-02-07
Publishing country	United States
Document type	Case Reports ; Letter
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.62679
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Article ; Online: First Italian experience using the automated craniofacial gestalt analysis on a cohort of pediatric patients with multiple anomaly syndromes.

Pascolini, Giulia / Calvani, Mauro / Grammatico, Paola

Italian journal of pediatrics

2022 Volume 48, Issue 1, Page(s) 91

Abstract: Background: In this study, we used the novel DeepGestalt technology powered by Face2Gene (FDNA Inc., MA, USA) in suggesting a correct diagnosis based on the facial gestalt of well-known multiple anomaly syndromes. Only molecularly characterized ... ...

Abstract	Background: In this study, we used the novel DeepGestalt technology powered by Face2Gene (FDNA Inc., MA, USA) in suggesting a correct diagnosis based on the facial gestalt of well-known multiple anomaly syndromes. Only molecularly characterized pediatric patients were considered in the present research. Subjects and methods: A total of 19 two-dimensional (2D) images of patients affected by several molecularly confirmed craniofacial syndromes (14 monogenic disorders and 5 chromosome diseases) and evaluated at the main involved Institution were analyzed using the Face2Gene CLINIC application (vs.19.1.3). Patients were cataloged into two main analysis groups (A, B) according to the number of clinical evaluations. Specifically, group A contained the patients evaluated more than one time, while in group B were comprised the subjects with a single clinical assesment. The algorithm's reliability was measured based on its capacity to identify the correct diagnosis as top-1 match, within the top-10 match and top-30 matches, only based on the uploaded image and not any other clinical finding or HPO terms. Failure was represented by the top-0 match. Results: The correct diagnosis was suggested respectively in 100% (8/8) and 81% (9/11) of cases of group A and B, globally failing in 16% (3/19). Conclusion: The tested tool resulted to be useful in identifying the facial gestalt of a heterogeneous group of syndromic disorders. This study illustrates the first Italian experience with the next generation phenotyping technology, following previous works and providing additional observations.
MeSH term(s)	Abnormalities, Multiple/diagnosis ; Child ; Facies ; Humans ; Image Processing, Computer-Assisted/methods ; Reproducibility of Results ; Syndrome
Language	English
Publishing date	2022-06-13
Publishing country	England
Document type	Journal Article
ZDB-ID	2088556-8
ISSN	1824-7288 ; 1720-8424
ISSN (online)	1824-7288
ISSN	1720-8424
DOI	10.1186/s13052-022-01283-w
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Article ; Online: Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 <i>locus</i> Associated with Variable Expressivity of Neuropsychiatric Disorders.

Lintas, Carla / Sacco, Roberto / Azzarà, Alessia / Cassano, Ilaria / Laino, Luigi / Grammatico, Paola / Gurrieri, Fiorella

Genes

2022 Volume 13, Issue 10

Abstract: The involvement of the Histaminergic System (HS) in neuropsychiatric disease is not well-documented, and few studies have described patients affected by different neuropsychiatric conditions harbouring disruptions in genes involved in the HS. In humans, ... ...

Abstract	The involvement of the Histaminergic System (HS) in neuropsychiatric disease is not well-documented, and few studies have described patients affected by different neuropsychiatric conditions harbouring disruptions in genes involved in the HS. In humans, histamine is synthetised from histidine by the histidine decarboxylase enzyme encoded by the HDC gene (OMIM142704). This is the sole enzyme in our organism able to synthetise histamine from histidine. Histamine is also contained in many different food types. We hereby describe a twenty-one-year-old female diagnosed with a borderline intellectual disability with autistic traits and other peculiar neuropsychological features carrying a 175-Kb interstitial deletion on chromosome 15q21.2. The deletion was inherited from the mother, who was affected by a severe anxiety disorder. The deleted region contains entirely the HDC* and the SLC27A2 genes and partially the ATP8B4 gene. The HDC gene has been previously associated with Tourette Syndrome (TS). Based on the functional role of the HDC, we propose this gene as the best candidate to explain many traits associated with the clinical phenotype of our patient and of her mother.
MeSH term(s)	Humans ; Female ; Young Adult ; Adult ; Histidine Decarboxylase/genetics ; Histamine ; Histidine ; Tourette Syndrome/genetics
Chemical Substances	Histidine Decarboxylase (EC 4.1.1.22) ; Histamine (820484N8I3) ; Histidine (4QD397987E)
Language	English
Publishing date	2022-09-20
Publishing country	Switzerland
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes13101685
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Article ; Online: Myelodysplastic clones arising post chimeric antigen receptor t cell therapy (car-t) procedure: a casuality or a new entity?

Di Rocco, Alice / Di Palma, Martina / D'Elia, Gianna Maria / Iaquinta, Giovanni / Breccia, Massimo / Mancini, Francesca / Grammatico, Paola / Martelli, Maurizio

Annals of hematology

2023 Volume 102, Issue 10, Page(s) 2963–2964

MeSH term(s)	Humans ; Receptors, Chimeric Antigen ; Immunotherapy, Adoptive/adverse effects ; Receptors, Antigen, T-Cell/genetics ; Clone Cells ; Cell- and Tissue-Based Therapy
Chemical Substances	Receptors, Chimeric Antigen ; Receptors, Antigen, T-Cell
Language	English
Publishing date	2023-07-19
Publishing country	Germany
Document type	Letter
ZDB-ID	1064950-5
ISSN	1432-0584 ; 0939-5555 ; 0945-8077
ISSN (online)	1432-0584
ISSN	0939-5555 ; 0945-8077
DOI	10.1007/s00277-023-05329-9
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Article: A pathogenic variant in the

Bottillo, Irene / Laino, Luigi / Azzarà, Alessia / Lintas, Carla / Cassano, Ilaria / Di Lazzaro, Vincenzo / Ursini, Francesca / Motolese, Francesco / Bargiacchi, Simone / Formicola, Daniela / Grammatico, Paola / Gurrieri, Fiorella

Frontiers in neuroscience

2024 Volume 17, Page(s) 1304080

Abstract: Introduction: Folliculin, encoded by : Patient and results: We report a 74-years-old woman diagnosed with dementia and carrying a : Discussion: ... ...

Abstract	Introduction: Folliculin, encoded by Patient and results: We report a 74-years-old woman diagnosed with dementia and carrying a Discussion: The
Language	English
Publishing date	2024-01-05
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2411902-7
ISSN	1662-453X ; 1662-4548
ISSN (online)	1662-453X
ISSN	1662-4548
DOI	10.3389/fnins.2023.1304080
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Article ; Online: Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype–Phenotype Correlations

Lintas, Carla / Bottillo, Irene / Sacco, Roberto / Azzarà, Alessia / Cassano, Ilaria / Ciccone, Maria Pia / Grammatico, Paola / Gurrieri, Fiorella

Genes (Basel). 2022 Dec. 01, v. 13, no. 12

2022

Abstract: As a consequence of the implementation of NGS technologies, the diagnostic yield of neurodevelopmental disorders has dramatically increased during the past two decades. Among neurodevelopmental genes, transcription-related genes and chromatin remodeling ... ...

Abstract	As a consequence of the implementation of NGS technologies, the diagnostic yield of neurodevelopmental disorders has dramatically increased during the past two decades. Among neurodevelopmental genes, transcription-related genes and chromatin remodeling genes are the most represented category of disease-causing genes. Indeed, the term “chromatinopathies” is now widely used to describe epigenetic disorders caused by mutations in these genes. We hereby describe a twenty-seven-year-old female patient diagnosed with moderate intellectual disability comorbid with other neuropsychiatric and behavioral issues carrying a de novo heterozygous stop variant in the KDM5C gene (NM_004187.5: c. 3847G>T, p.Glu1283*), encoding a histone demethylase that specifically acts on the H3K4 lysines. The gene is located on the X chromosome and has been associated with Claes–Jensen-type intellectual disability, an X-linked syndromic disorder. We discuss our case in relation to previously reported affected females harboring pathogenic mutations in the KDM5C gene with the objective of delineating genotype–phenotype correlations and further defining a common recognizable phenotype. We also highlight the importance of reverse phenotyping in relation to whole-exome sequencing results.
Keywords	chromatin ; epigenetics ; females ; genes ; genotype-phenotype correlation ; heterozygosity ; histone demethylases ; patients ; phenotype ; women
Language	English
Dates of publication	2022-1201
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article ; Online
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes13122266
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Article ; Online: The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype.

Pascolini, Giulia / Agolini, Emanuele / Novelli, Antonio / Majore, Silvia / Grammatico, Paola

Clinical genetics

2020 Volume 97, Issue 4, Page(s) 672–674

Abstract: We describe the second patient with the de novo p.Arg377Trp variant in ACTL6A (Actin-like 6A) (MIM#604958) and a phenotype reminiscent a disorder of the BRG1-associated factor (BAF) complex, including dysmorphic facies and acral malformations. So far, ... ...

Abstract	We describe the second patient with the de novo p.Arg377Trp variant in ACTL6A (Actin-like 6A) (MIM#604958) and a phenotype reminiscent a disorder of the BRG1-associated factor (BAF) complex, including dysmorphic facies and acral malformations. So far, only three patients with ACTL6A variants and neurodevelopmental delay have been reported but the specific p.Arg377Trp mutation seems to correlate with a distinctive phenotype well-fitting a BAFopathy, which lacks in individuals carrying different mutations. This could suggest an emergent genotype-phenotype correlation among the ACTL6A-related phenotype.
MeSH term(s)	Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Actins/genetics ; Child ; Chromosomal Proteins, Non-Histone/genetics ; DNA-Binding Proteins/genetics ; Hand Deformities, Congenital/genetics ; Hand Deformities, Congenital/pathology ; Humans ; Male ; Micrognathism/pathology ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/pathology
Chemical Substances	ACTL6A protein, human ; Actins ; BANF1 protein, human ; Chromosomal Proteins, Non-Histone ; DNA-Binding Proteins
Language	English
Publishing date	2020-01-29
Publishing country	Denmark
Document type	Letter
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.13682
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Article ; Online: Expanding the Spectrum of

Lintas, Carla / Bottillo, Irene / Sacco, Roberto / Azzarà, Alessia / Cassano, Ilaria / Ciccone, Maria Pia / Grammatico, Paola / Gurrieri, Fiorella

Genes

2022 Volume 13, Issue 12

Abstract	As a consequence of the implementation of NGS technologies, the diagnostic yield of neurodevelopmental disorders has dramatically increased during the past two decades. Among neurodevelopmental genes, transcription-related genes and chromatin remodeling genes are the most represented category of disease-causing genes. Indeed, the term "chromatinopathies" is now widely used to describe epigenetic disorders caused by mutations in these genes. We hereby describe a twenty-seven-year-old female patient diagnosed with moderate intellectual disability comorbid with other neuropsychiatric and behavioral issues carrying a de novo heterozygous stop variant in the
MeSH term(s)	Female ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/diagnosis ; Histone Demethylases/genetics ; Mutation ; Neurodevelopmental Disorders/diagnosis ; Neurodevelopmental Disorders/genetics ; Genetic Association Studies
Chemical Substances	Histone Demethylases (EC 1.14.11.-) ; KDM5C protein, human (EC 1.14.11.-)
Language	English
Publishing date	2022-12-01
Publishing country	Switzerland
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes13122266
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Article ; Online: Longitudinal dynamics of SARS-CoV-2 anti-receptor binding domain IgG antibodies in a wide population of health care workers after BNT162b2 vaccination.

Bordi, Licia / Sberna, Giuseppe / Piscioneri, Cesira Natalina / Cocchiara, Rosario Andrea / Miani, Anna / Grammatico, Paola / Mariani, Bruno / Parisi, Gabriella

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases

2022 Volume 122, Page(s) 174–177

Abstract: Objectives: With the availability of vaccines, commercial assays detecting anti-severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) antibodies evolved toward quantitative assays directed to the spike glycoprotein or its receptor-binding domain ( ...

Abstract	Objectives: With the availability of vaccines, commercial assays detecting anti-severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) antibodies evolved toward quantitative assays directed to the spike glycoprotein or its receptor-binding domain (RBD). The objective was to perform a large-scale, longitudinal study involving health care workers (HCWs), with the aim of establishing the kinetics of immune response throughout the 9-month period after receipt of the second dose of the BNT162b2 vaccine. Methods: Quantitative determination of immunoglobulin (Ig) G antibodies against the RBD of the S1 subunit of the spike protein of SARS-CoV-2 on the Alinity systems. Results: The highest levels of anti-RBD IgG were measured after 1 month from full vaccination (median: 1432 binding antibody units/ml [BAU/ml]); subsequently, a steep decrease (7.4-fold decrease) in IgG levels was observed at 6 months (median: 194.3 BAU/ml), with a further 2.5-fold decrease at 9 months (median: 79.3 BAU/ml). Furthermore, the same data, when analyzed for sex, showed significant differences between male and female participants at both 1 and 9 months from vaccination, but not at 6 months. Conclusion: Our results confirm the tendency of anti-RBD antibodies to decrease over time, also when extending the analysis up to 9 months, and highlight a better ability of the female sex to produce antibodies 1 month and 9 months after vaccination. Overall, these data, obtained in a wide population of HCWs, support the importance of having increased the vaccine doses.
MeSH term(s)	Antibodies, Viral ; BNT162 Vaccine ; COVID-19/prevention & control ; Female ; Health Personnel ; Humans ; Immunoglobulin G ; Longitudinal Studies ; Male ; SARS-CoV-2 ; Vaccination ; Viral Vaccines
Chemical Substances	Antibodies, Viral ; Immunoglobulin G ; Viral Vaccines ; BNT162 Vaccine (N38TVC63NU)
Language	English
Publishing date	2022-05-31
Publishing country	Canada
Document type	Journal Article
ZDB-ID	1331197-9
ISSN	1878-3511 ; 1201-9712
ISSN (online)	1878-3511
ISSN	1201-9712
DOI	10.1016/j.ijid.2022.05.061
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