Gabriela Stangoni

Perugia, Italy

Last Updated: 09/26/2026

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Found 20 publications

Porencephaly in an Italian neonate with foetal alcohol spectrum disorder: A case report.

Porencephaly in an Italian neonate with foetal alcohol spectrum disorder: A case report.

Journal: Medicine

Published: August 07, 2020

Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation.

Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation.

Journal: Medicine

Published: July 08, 2020

A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.

A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.

Journal: American journal of medical genetics. Part A

Published: March 23, 2020

Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN Gene: A Case Report.

Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN Gene: A Case Report.

Journal: International journal of molecular sciences

Published: December 09, 2018

Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma.

Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma.

Journal: International journal of molecular sciences

Published: September 05, 2018

Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.

Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.

Journal: European journal of human genetics : EJHG

Published: April 27, 2018

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.

Journal: Bone

Published: January 25, 2018

Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri-Weill Dyschondrosteosis.

Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri-Weill Dyschondrosteosis.

Journal: Frontiers in endocrinology

Published: December 17, 2017

Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.

Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.

Journal: International journal of molecular sciences

Published: September 02, 2017

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.

Journal: International journal of molecular sciences

Published: August 11, 2017

Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.

Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.

Journal: The Journal of clinical endocrinology and metabolism

Published: January 27, 2017

QF-PCR and MLPA: a reliable molecular system to detect chromosomal alterations in miscarriages.

QF-PCR and MLPA: a reliable molecular system to detect chromosomal alterations in miscarriages.

Journal: Clinical and experimental obstetrics & gynecology

Published: January 01, 2017

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Last Updated: 09/26/2026