Angelantonio Notarangelo

Foggia, 71013, Italy

Last Updated: 09/26/2026

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Found 13 publications

A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.

A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.

Journal: Human genetics

Published: June 28, 2021

Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the NCOA3 Gene.

Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the NCOA3 Gene.

Journal: Genes

Published: June 08, 2021

A simultaneous next-generation sequencing approach to the diagnosis of couple infertility.

A simultaneous next-generation sequencing approach to the diagnosis of couple infertility.

Journal: Minerva endocrinology

Published: May 14, 2021

Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test.

Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test.

Journal: Acta bio-medica : Atenei Parmensis

Published: August 25, 2020

Complications related to in vitro reproductive techniques support the implementation of natural procreative technologies.

Complications related to in vitro reproductive techniques support the implementation of natural procreative technologies.

Journal: Acta bio-medica : Atenei Parmensis

Published: August 25, 2020

Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.

Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.

Journal: Human molecular genetics

Published: July 17, 2020

Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation.

Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation.

Journal: International journal of molecular sciences

Published: May 29, 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.

Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: January 09, 2020

Dp71 Expression in Human Glioblastoma.

Dp71 Expression in Human Glioblastoma.

Journal: International journal of molecular sciences

Published: October 02, 2019

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.

Journal: Human mutation

Published: March 13, 2019

Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation.

Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation.

Journal: Stem cell research

Published: July 31, 2018

Design and synthesis of 2-oxindole based multi-targeted inhibitors of PDK1/Akt signaling pathway for the treatment of glioblastoma multiforme.

Design and synthesis of 2-oxindole based multi-targeted inhibitors of PDK1/Akt signaling pathway for the treatment of glioblastoma multiforme.

Journal: European journal of medicinal chemistry

Published: August 19, 2015

Showing 1-12 of 13

Last Updated: 09/26/2026