P. Fernández-Álvarez

发表

Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction.

D. Andreini, G. Pontone, J. Bogaert, 2021, Journal of the American College of Cardiology.

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.

K. Lage, N. Katsanis, W. Crowley, 2020, Human molecular genetics.

Validation of nasospheroids to assay CFTR functionality and modulator responses in cystic fibrosis

E. Tizzano, Raquel Garcia Perez, Maite Calucho, 2021, Scientific Reports.

A Form of Apolipoprotein A‐I Is Found Specifically in Relapses of Focal Segmental Glomerulosclerosis Following Transplantation

A. Meseguer, C. Jacobs-Cachá, R. Lauzurica, 2013, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identiﬁed in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia

M. Maghnie, M. Groessl, C. Flück, 2020 .

Differences between genetic dilated cardiomyopathy and myocarditis in children presenting with severe cardiac dysfunction

M. Codina-Solà, R. Abella, J. Balcells, 2021, European Journal of Pediatrics.

A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome

A. Evangelista, E. Tizzano, M. Codina-Solà, 2021, Journal of Medical Genetics.

Expanding the phenotype of cerebellar‐facial‐dental syndrome: Two siblings with a novel variant in BRF1

E. Tizzano, L. Valle, I. Valenzuela, 2020, American journal of medical genetics. Part A.

Further delineation of the phenotype caused by loss of function mutations in PRMT7.

L. Armengol, B. Rodríguez-Santiago, E. Tizzano, 2019, European journal of medical genetics.

Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

E. Tizzano, F. Munell, I. Valenzuela, 2017, European journal of medical genetics.

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

I. Scheffer, H. Peeters, H. Mefford, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

FGFR1 Mosaic Pathogenic Variant in Encephalocraniocutaneous Lipomatosis with Leptomeningeal Angiomatosis

E. Tizzano, S. Boronat, P. Fernández-Álvarez, 2019, Journal of Pediatric Neurology.

Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia

M. Maghnie, M. Groessl, C. Flück, 2020, International journal of molecular sciences.

A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism—Case Report

M. Clemente, D. Yeste, P. Fernández-Álvarez, 2022, Frontiers in Endocrinology.

An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history

O. Díez, E. Tizzano, M. Codina-Solà, 2022, European Journal of Human Genetics.

Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples

E. Tizzano, M. Codina-Solà, E. García-Arumí, 2022, Journal of Medical Genetics.

Correspondence on “Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype” by Zanoni et al

E. Tizzano, P. Fernández-Álvarez, Irene Valenzuela Palafoll, 2021, Genetics in Medicine.

ApoA1, ApoJ and ApoE Plasma Levels and Genotype Frequencies in Cerebral Amyloid Angiopathy

J. Montaner, A. López-Rueda, D. Rodríguez-Luna, 2015, NeuroMolecular Medicine.

Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS).

E. Tizzano, G. Ariceta, E. García-Arumí, 2018, European journal of medical genetics.

Dynamic Changes in Non-Invasive Markers of Liver Fibrosis Are Predictors of Liver Events after SVR in HCV Patients

Á. Vilches-Arenas, Á. Caunedo-Álvarez, P. Fernández-Álvarez, 2023, Viruses.

ApoA1, ApoJ and ApoE Plasma Levels and Genotype Frequencies in Cerebral Amyloid Angiopathy

J. Montaner, A. López-Rueda, D. Rodríguez-Luna, 2016, NeuroMolecular Medicine.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

B. V. van Bon, R. Pfundt, L. Armengol, 2023, The Journal of clinical investigation.

Inflammation in cystic fibrosis patients: study of the eicosanoid pathway and severity correlations

E. Tizzano, E. García-Arumí, C. Picado, 2021, ACM International Conference on Computing Frontiers.

Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient

E. Tizzano, E. García-Arumí, M. Fernández-Cancio, 2020, Human Genome Variation.

Prolyl Endopeptidase-like Deficiency Associated with Growth Hormone Deficiency

M. Clemente, D. Yeste, P. Fernández-Álvarez, 2021, Journal of clinical research in pediatric endocrinology.

The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres

R. McGowan, A. Novelli, C. Gravholt, 2022, Endocrine connections.

A Form of Apolipoprotein A‐I Is Found Specifically in Relapses of Focal Segmental Glomerulosclerosis Following Transplantation

A. Meseguer, C. Jacobs-Cachá, R. Lauzurica, 2013, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome

R. Kosaki, P. Fernández-Álvarez, Patricia Muñoz-Cabello, 2024, Journal of Medical Genetics.