Maria T. Sanseverino

Porto Alegre, RS, Brazil

Last Updated: 09/26/2026

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Found 10 publications

Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.

Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.

Journal: Scientific reports

Published: February 19, 2024

A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.

A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.

Journal: Research square

Published: January 03, 2024

A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.

A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.

Journal: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology

Published: December 11, 2023

Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy.

Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy.

Journal: JIMD reports

Published: October 21, 2021

New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.

New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.

Journal: Molecular syndromology

Published: July 03, 2020

Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome.

Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome.

Journal: Molecular syndromology

Published: June 17, 2019

The role of FAS, FAS-L, BAX, and BCL-2 gene polymorphisms in determining susceptibility to unexplained recurrent pregnancy loss.

The role of FAS, FAS-L, BAX, and BCL-2 gene polymorphisms in determining susceptibility to unexplained recurrent pregnancy loss.

Journal: Journal of assisted reproduction and genetics

Published: October 05, 2018

Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia.

Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia.

Journal: Molecular syndromology

Published: December 18, 2017

The phenotypic spectrum of congenital Zika syndrome.

The phenotypic spectrum of congenital Zika syndrome.

Journal: American journal of medical genetics. Part A

Published: December 20, 2016

Primary prevention of neural tube defects in Brazil: insights into anencephaly.

Primary prevention of neural tube defects in Brazil: insights into anencephaly.

Journal: Journal of community genetics

Published: January 02, 2015

Showing 1-10 of 10

Last Updated: 09/26/2026