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Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

Blood, 2013-05, Vol.121 (19), p.3925-3935

2013

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Non-invasive prenatal testing can detect silent cancers in expecting mothers

Genes & diseases, 2024-03, Vol.11 (2), p.585-588

2024

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Human skin-derived keratinocytes and fibroblasts co-cultured on 3D poly ε-caprolactone scaffold support in vitro HSC differentiation into T-lineage committed cells

International immunology, 2013-12, Vol.25 (12), p.703-714

2013

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Editorial: Unravelling the basis of non-invasive prenatal screening results

Frontiers in genetics, 2023-07, Vol.14, p.1247764-1247764

2023

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Iron refractory iron deficiency anemia

Haematologica (Roma), 2013-06, Vol.98 (6), p.845-853

2013

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The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload

Blood, 2007-08, Vol.110 (4), p.1353-1358

2007

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Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies

BMC medical genomics, 2021-03, Vol.14 (1), p.93-11, Article 93

2021

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Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II

Nature genetics, 2009-08, Vol.41 (8), p.936-940

2009

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Fyn kinase is a novel modulator of erythropoietin signaling and stress erythropoiesis

American journal of hematology, 2019-01, Vol.94 (1), p.10-20

2019

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Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect

Cells (Basel, Switzerland), 2024-06, Vol.13 (13), p.1078

2024

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Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis

Haematologica (Roma), 2009-03, Vol.94 (3), p.395-408

2009

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Resveratrol accelerates erythroid maturation by activation of FoxO3 and ameliorates anemia in beta-thalassemic mice

Haematologica (Roma), 2014-02, Vol.99 (2), p.267

2014

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Trasferrin receptor 2 gene regulation by microRNA 221 in SH-SY5Y cells treated with MPP+ as Parkinson's disease cellular model

Neuroscience research, 2013-11, Vol.77 (3), p.121-127

2013

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MED12 Mutation in Two Families with X-Linked Ohdo Syndrome

Genes, 2021-08, Vol.12 (9), p.1328

2021

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A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma

Genes, 2023-03, Vol.14 (3), p.668

2023

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Oxidative stress modulates heme synthesis and induces peroxiredoxin-2 as a novel cytoprotective response in β-thalassemic erythropoiesis

Haematologica (Roma), 2011-11, Vol.96 (11), p.1595-1604

2011

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Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies

Genes, 2023-04, Vol.14 (5), p.982

2023

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Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d in erythroid cells

Haematologica (Roma), 2010-08, Vol.95 (8), p.1244-1252

2010

Volltextzugriff (PDF)

Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing

Genes, 2021-11, Vol.12 (12), p.1890

2021

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The role of Matriptase-2 during the early postnatal development in humans

Haematologica (Roma), 2016-04, Vol.101 (4), p.e126

2016

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Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis

Diagnostics (Basel), 2022-07, Vol.12 (7), p.1591

2022

Volltextzugriff (PDF)

A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis

Haematologica (Roma), 2009-08, Vol.94 (8), p.1049-1059

2009

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Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

Clinical case reports, 2019-10, Vol.7 (10), p.1977-1981

2019

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How I Diagnose Non-thalassemic Microcytic Anemias

Seminars in hematology, 2015-10, Vol.52 (4), p.270-278

2015

Volltextzugriff (PDF)

Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia

Haematologica (Roma), 2007, Vol.92 (1), p.133-134

2007

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Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

Non-invasive prenatal testing can detect silent cancers in expecting mothers

Human skin-derived keratinocytes and fibroblasts co-cultured on 3D poly ε-caprolactone scaffold support in vitro HSC differentiation into T-lineage committed cells

Editorial: Unravelling the basis of non-invasive prenatal screening results

Iron refractory iron deficiency anemia

The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload

Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II

Fyn kinase is a novel modulator of erythropoietin signaling and stress erythropoiesis

Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect

Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis

Resveratrol accelerates erythroid maturation by activation of FoxO3 and ameliorates anemia in beta-thalassemic mice

Trasferrin receptor 2 gene regulation by microRNA 221 in SH-SY5Y cells treated with MPP+ as Parkinson's disease cellular model

MED12 Mutation in Two Families with X-Linked Ohdo Syndrome

A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma

Oxidative stress modulates heme synthesis and induces peroxiredoxin-2 as a novel cytoprotective response in β-thalassemic erythropoiesis

Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies

Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d in erythroid cells

Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing

The role of Matriptase-2 during the early postnatal development in humans

Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis

A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis

Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

How I Diagnose Non-thalassemic Microcytic Anemias

Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia

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