Ana B. Xavier-Campos

Lausanne, VD, Switzerland

Last Updated: 09/26/2026

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Found 43 publications

Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes.

Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes.

Journal: Clinical genetics

Published: August 02, 2025

Reduced native T1 on cardiac magnetic resonance imaging as a novel marker of myocardial involvement in Niemann-Pick disease type B.

Reduced native T1 on cardiac magnetic resonance imaging as a novel marker of myocardial involvement in Niemann-Pick disease type B.

Journal: American heart journal plus : cardiology research and practice

Published: July 06, 2025

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 05, 2024

De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder.

De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder.

Journal: The EMBO journal

Published: April 02, 2024

Correction to: New Dominant‑Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130‑Dependent Hyper‑IgE Syndrome.

Correction to: New Dominant‑Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130‑Dependent Hyper‑IgE Syndrome.

Journal: Journal of clinical immunology

Published: June 21, 2023

Recurrent Increased Nuchal Translucency Led to the Identification of Novel NUP107 Variants.

Recurrent Increased Nuchal Translucency Led to the Identification of Novel NUP107 Variants.

Journal: American journal of medical genetics. Part A

Published: March 12, 2023

New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.

New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.

Journal: Journal of clinical immunology

Published: September 16, 2022

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.

Journal: Genes

Published: December 21, 2021

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

Journal: Genes

Published: November 29, 2021

Correction to: Elevated lactate in Mauriac syndrome: still a mystery.

Correction to: Elevated lactate in Mauriac syndrome: still a mystery.

Journal: BMC endocrine disorders

Published: October 01, 2021

Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants.

Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants.

Journal: Genes

Published: August 17, 2021

Black cartilage: Incidentally discovered articular ochronosis during arthroplasty.

Black cartilage: Incidentally discovered articular ochronosis during arthroplasty.

Journal: Journal of inherited metabolic disease

Published: July 06, 2021

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Last Updated: 09/26/2026