Antonio Meneses-Gonzalez

Sevilla, AN, Spain

Last Updated: 09/26/2026

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Found 8 publications

VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation.

VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation.

Journal: Orphanet journal of rare diseases
Published: August 21, 2023

Spanish consensus on managing pregnancy in women with Gaucher disease.

Spanish consensus on managing pregnancy in women with Gaucher disease.

Journal: Orphanet journal of rare diseases
Published: July 12, 2023

Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report.

Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report.

Journal: Medicine
Published: March 12, 2019

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

Journal: American journal of human genetics
Published: July 27, 2017

Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations.

Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations.

Journal: American journal of medical genetics. Part A
Published: December 05, 2015

Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13.

Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13.

Journal: Case reports in genetics
Published: July 18, 2014

Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients

Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients

Journal: Medicina clinica
Published: March 03, 2014

Contributions of PHOX2B in the pathogenesis of Hirschsprung disease.

Contributions of PHOX2B in the pathogenesis of Hirschsprung disease.

Journal: PloS one
Published: September 25, 2012
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Last Updated: 09/26/2026