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  1. Article ; Online: Red cell disorders: diagnosis and treatment of common red cell defects.

    Iolascon, Achille

    HemaSphere

    2019  Volume 3, Issue Suppl, Page(s) 153

    Language English
    Publishing date 2019-06-30
    Publishing country United States
    Document type Journal Article
    ISSN 2572-9241
    ISSN (online) 2572-9241
    DOI 10.1097/HS9.0000000000000196
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Editorial: Genetics and Genomics of Red Blood Cells.

    Iolascon, Achille / Russo, Roberta / Andolfo, Immacolata

    Frontiers in physiology

    2022  Volume 12, Page(s) 822156

    Language English
    Publishing date 2022-01-07
    Publishing country Switzerland
    Document type Editorial
    ZDB-ID 2564217-0
    ISSN 1664-042X
    ISSN 1664-042X
    DOI 10.3389/fphys.2021.822156
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: New Insights in 9q21.13 Microdeletion Syndrome: Genotype-Phenotype Correlation of 28 Patients.

    De Falco, Alessandro / Iolascon, Achille / Ascione, Flora / Piscopo, Carmelo

    Genes

    2023  Volume 14, Issue 5

    Abstract: The implementation of array comparative genomic hybridisation (array-CGH) allows us to describe new microdeletion/microduplication syndromes which were previously not identified. 9q21.13 microdeletion syndrome is a genetic condition due to the loss of a ... ...

    Abstract The implementation of array comparative genomic hybridisation (array-CGH) allows us to describe new microdeletion/microduplication syndromes which were previously not identified. 9q21.13 microdeletion syndrome is a genetic condition due to the loss of a critical genomic region of approximately 750kb and includes several genes, such as
    MeSH term(s) Humans ; Male ; Child ; Developmental Disabilities/genetics ; Chromosome Deletion ; Intellectual Disability/genetics ; Neurodevelopmental Disorders/genetics ; Genetic Association Studies
    Language English
    Publishing date 2023-05-21
    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/genes14051116
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: First Case of a Dominant De Novo

    Minale, Elia Marco Paolo / De Falco, Alessandro / Agolini, Emanuele / Novelli, Antonio / Russo, Roberta / Andolfo, Immacolata / Iolascon, Achille / Piscopo, Carmelo

    Genes

    2024  Volume 15, Issue 1

    Abstract: Cranio-lenticulo-sutural dysplasia (CLSD, OMIM #607812) is a rare genetic condition characterized by late-closing fontanels, skeletal defects, dysmorphisms, and congenital cataracts that are caused by bi-allelic or monoallelic variants in ... ...

    Abstract Cranio-lenticulo-sutural dysplasia (CLSD, OMIM #607812) is a rare genetic condition characterized by late-closing fontanels, skeletal defects, dysmorphisms, and congenital cataracts that are caused by bi-allelic or monoallelic variants in the
    MeSH term(s) Male ; Humans ; Child ; Vesicular Transport Proteins/genetics ; Vesicular Transport Proteins/metabolism ; Intellectual Disability/genetics ; Intellectual Disability/metabolism ; Mutation, Missense ; Endoplasmic Reticulum/metabolism ; Golgi Apparatus/metabolism
    Chemical Substances Vesicular Transport Proteins ; SEC23A protein, human
    Language English
    Publishing date 2024-01-20
    Publishing country Switzerland
    Document type Review ; Case Reports ; Journal Article
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes15010130
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Nobel prize in physiology or medicine 2021, receptors for temperature and touch: Implications for hematology.

    Andolfo, Immacolata / Alper, Seth L / Iolascon, Achille

    American journal of hematology

    2021  Volume 97, Issue 2, Page(s) 168–170

    MeSH term(s) Anemia, Sickle Cell/metabolism ; Animals ; Calcium/metabolism ; Hematology ; Humans ; Ion Channels/metabolism ; Nobel Prize ; TRPV Cation Channels/metabolism ; Temperature ; Thermosensing ; Touch
    Chemical Substances Ion Channels ; PIEZO1 protein, human ; PIEZO2 protein, human ; TRPV Cation Channels ; TRPV1 protein, human ; Calcium (SY7Q814VUP)
    Language English
    Publishing date 2021-11-20
    Publishing country United States
    Document type Journal Article
    ZDB-ID 196767-8
    ISSN 1096-8652 ; 0361-8609
    ISSN (online) 1096-8652
    ISSN 0361-8609
    DOI 10.1002/ajh.26407
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Transfer RNA and syndromic sideroblastic anemia.

    Iolascon, Achille

    Blood

    2014  Volume 124, Issue 18, Page(s) 2763–2764

    MeSH term(s) Anemia, Sideroblastic/congenital ; Anemia, Sideroblastic/genetics ; Developmental Disabilities/complications ; Fever/complications ; Genetic Diseases, X-Linked/genetics ; Humans ; Immunologic Deficiency Syndromes/complications ; Mutation/genetics ; RNA Nucleotidyltransferases/genetics
    Chemical Substances RNA Nucleotidyltransferases (EC 2.7.7.-) ; tRNA nucleotidyltransferase (EC 2.7.7.-)
    Language English
    Publishing date 2014-10-29
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood-2014-09-600197
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Hereditary anemia caused by multilocus inheritance of

    Rosato, Barbara Eleni / Alper, Seth L / Tomaiuolo, Giovanna / Russo, Roberta / Iolascon, Achille / Andolfo, Immacolata

    Haematologica

    2022  Volume 107, Issue 9, Page(s) 2280–2284

    MeSH term(s) ATP-Binding Cassette Transporters ; Anemia, Hemolytic, Congenital/diagnosis ; Anemia, Hemolytic, Congenital/genetics ; Anion Exchange Protein 1, Erythrocyte ; Female ; Humans ; Hydrops Fetalis/diagnosis ; Hydrops Fetalis/genetics ; Ion Channels/genetics ; Mutation
    Chemical Substances ABCB6 protein, human ; ATP-Binding Cassette Transporters ; Anion Exchange Protein 1, Erythrocyte ; Ion Channels ; PIEZO1 protein, human ; SLC4A1 protein, human
    Language English
    Publishing date 2022-09-01
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 2333-4
    ISSN 1592-8721 ; 0017-6567 ; 0390-6078
    ISSN (online) 1592-8721
    ISSN 0017-6567 ; 0390-6078
    DOI 10.3324/haematol.2022.280799
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Recommendations for pregnancy in Fanconi anemia.

    Matar, Charbel F / Bou-Fakhredin, Rayan / Russo, Roberta / Andolfo, Immacolata / Iolascon, Achille / Taher, Ali T

    Expert opinion on biological therapy

    2021  Volume 21, Issue 11, Page(s) 1403–1409

    Abstract: ... ...

    Abstract Introduction
    MeSH term(s) Fanconi Anemia/diagnosis ; Fanconi Anemia/therapy ; Female ; Hematopoietic Stem Cell Transplantation ; Humans ; Pregnancy
    Language English
    Publishing date 2021-04-12
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2052501-1
    ISSN 1744-7682 ; 1471-2598
    ISSN (online) 1744-7682
    ISSN 1471-2598
    DOI 10.1080/14712598.2021.1913119
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  9. Article ; Online: New Insights in 9q21.13 Microdeletion Syndrome: Genotype–Phenotype Correlation of 28 Patients

    De Falco, Alessandro / Iolascon, Achille / Ascione, Flora / Piscopo, Carmelo

    Genes (Basel). 2023 May 21, v. 14, no. 5

    2023  

    Abstract: The implementation of array comparative genomic hybridisation (array-CGH) allows us to describe new microdeletion/microduplication syndromes which were previously not identified. 9q21.13 microdeletion syndrome is a genetic condition due to the loss of a ... ...

    Abstract The implementation of array comparative genomic hybridisation (array-CGH) allows us to describe new microdeletion/microduplication syndromes which were previously not identified. 9q21.13 microdeletion syndrome is a genetic condition due to the loss of a critical genomic region of approximately 750kb and includes several genes, such as RORB and TRPM6. Here, we report a case of a 7-year-old boy affected by 9q21.13 microdeletion syndrome. He presents with global developmental delay, intellectual disability, autistic behaviour, seizures and facial dysmorphism. Moreover, he has severe myopia, which was previously reported in only another patient with 9q21.13 deletion, and brain anomalies which were never described before in 9q21.13 microdeletion syndrome. We also collect 17 patients from a literature search and 10 cases from DECIPHER database with a total number of 28 patients (including our case). In order to better investigate the four candidate genes RORB, TRPM6, PCSK5, and PRUNE2 for neurological phenotype, we make, for the first time, a classification in four groups of all the collected 28 patients. This classification is based both on the genomic position of the deletions included in the 9q21.3 locus deleted in our patient and on the different involvement of the four-candidate gene. In this way, we compare the clinical problems, the radiological findings, and the dysmorphic features of each group and of all the 28 patients in our article. Moreover, we perform the genotype–phenotype correlation of the 28 patients to better define the syndromic spectrum of 9q21.13 microdeletion syndrome. Finally, we propose a baseline ophthalmological and neurological monitoring of this syndrome.
    Keywords boys ; brain ; comparative genomic hybridization ; databases ; genes ; genomics ; genotype-phenotype correlation ; loci ; myopia ; patients ; phenotype
    Language English
    Dates of publication 2023-0521
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article ; Online
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14051116
    Database NAL-Catalogue (AGRICOLA)

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  10. Article ; Online: Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients.

    Marra, Roberta / Nostroso, Antonella / Rosato, Barbara Eleni / Esposito, Federica Maria / D'Onofrio, Vanessa / Iscaro, Anthony / Gambale, Antonella / Bruschi, Barbara / Coccia, Paola / Poloni, Antonella / Unal, Sule / Romano, Alberto / Iolascon, Achille / Andolfo, Immacolata / Russo, Roberta

    American journal of hematology

    2024  

    Abstract: Congenital Dyserythropoietic Anemia type I (CDA I) is a rare hereditary condition characterized by macrocytic/normocytic anemia, splenomegaly, iron overload, and distinct abnormalities during late erythropoiesis, particularly internuclear bridges between ...

    Abstract Congenital Dyserythropoietic Anemia type I (CDA I) is a rare hereditary condition characterized by macrocytic/normocytic anemia, splenomegaly, iron overload, and distinct abnormalities during late erythropoiesis, particularly internuclear bridges between erythroblasts. Diagnosis of CDA I remains challenging due to its rarity, clinical heterogeneity, and overlapping phenotype with other rare hereditary anemias. In this case series, we present 36 patients with suspected CDA I. A molecular diagnosis was successfully established in 89% of cases, identifying 16 patients with CDA I through the presence of 18 causative variants in the CDAN1 or CDIN1 genes. Transcriptomic analysis of CDIN1 variants revealed impaired erythroid differentiation and disruptions in transcription, cell proliferation, and histone regulation. Conversely, 16 individuals received a different diagnosis, primarily pyruvate kinase deficiency. Comparisons between CDA I and non-CDA I patients revealed no significant differences in erythroblast morphological features. However, hemoglobin levels and red blood cell count differed between the two groups, with non-CDA I subjects being more severely affected. Notably, most patients with severe anemia belonged to the non-CDA I group (82% non-CDA I vs. 18% CDA I), with a subsequent absolute prevalence of transfusion dependency among non-CDA I patients (100% vs. 41.7%). All patients exhibited reduced bone marrow responsiveness to anemia, with a more pronounced effect observed in non-CDA I patients. Erythropoietin levels were significantly higher in non-CDA I patients compared to CDA I patients. However, evaluations of erythroferrone, soluble transferrin receptor, and hepcidin revealed no significant differences in plasma concentration between the two groups.
    Language English
    Publishing date 2024-04-26
    Publishing country United States
    Document type Journal Article
    ZDB-ID 196767-8
    ISSN 1096-8652 ; 0361-8609
    ISSN (online) 1096-8652
    ISSN 0361-8609
    DOI 10.1002/ajh.27350
    Database MEDical Literature Analysis and Retrieval System OnLINE

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