M. Ballesta-Martínez

发表

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.

Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway.

E. Guillén-Navarro, M. Moya-Quiles, V. López‐González, 2012, Gene.

A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.

D. Torrents, E. Ars, I. Llano‐Rivas, 2018, Kidney international.

Barth syndrome in adulthood: a clinical case.

M. Sabater-Molina, F. Ruíz-Espejo, E. Guillén-Navarro, 2013, Revista espanola de cardiologia.

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis

B. Gener, E. Anda, R. Rodríguez-López, 2018, BMC Medical Genetics.

Characterization of a de novo complex chromosomal rearrangement in a patient with cri‐du‐chat and trisomy 5p syndromes

C. Fuster, E. Guillén-Navarro, M. Ballesta-Martínez, 2009, American journal of medical genetics. Part A.

Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta

P. Lapunzina, E. Guillén-Navarro, A. Utkus, 2014, American journal of medical genetics. Part A.

Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements

E. Guillén-Navarro, E. Barroso, K. Heath, 2015, American journal of medical genetics. Part A.

Barth syndrome in adulthood: a clinical case.

M. Sabater-Molina, F. Ruíz-Espejo, E. Guillén-Navarro, 2013 .

[Assessment of psychomotor development of Spanish children up to 3 years of age conceived by assisted reproductive techniques: Prospective matched cohort study].

E. Guillén-Navarro, V. López‐González, M. Ballesta-Martínez, 2019, Anales de pediatria.

Mutations in PLOD2 cause autosomal‐recessive connective tissue disorders within the Bruck syndrome—Osteogenesis imperfecta phenotypic spectrum

P. Lapunzina, K. Amr, J. Caparrós-Martín, 2012, Human mutation.

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

E. Guillén-Navarro, M. Barreda-Sánchez, V. López‐González, 2019, Orphanet Journal of Rare Diseases.

Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients

E. Guillén-Navarro, M. E. Pérez-Tomás, M. Barreda-Sánchez, 2021, Orphanet Journal of Rare Diseases.

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

R. Holt, P. Calvas, N. Chassaing, 2018, Human Genetics.

Assessment of psychomotor development of Spanish children up to 3 years of age conceived by assisted reproductive techniques: Prospective matched cohort study

E. Guillén-Navarro, V. López‐González, M. Ballesta-Martínez, 2020 .

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

M. Couce, G. Pintos-Morell, E. Guillén-Navarro, 2021, Orphanet Journal of Rare Diseases.

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

Philippe M Campeau, Tiziana Granata, Ronnie Wright, 2016, American journal of human genetics.

Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication

B. Rodríguez-Santiago, E. Guillén-Navarro, S. García-Miñaúr, 2013, American journal of medical genetics. Part A.

Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement.

E. Guillén-Navarro, V. López‐González, M. Ballesta-Martínez, 2014, Genomics.

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

A. Torrelo, E. Guillén-Navarro, L. Noguera‐Morel, 2019, Orphanet Journal of Rare Diseases.

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

D. Mitter, C. Evers, S. Nampoothiri, 2016, Genetics in Medicine.

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

H. Hakonarson, B. Gener, D. Sharon, 2021, Scientific reports.

Three Main Factors Define Changes in Fecal Microbiota Associated With Feeding Modality in Infants

J. Plaza-Díaz, C. Gómez-Llorente, Á. Gil, 2013, Journal of pediatric gastroenterology and nutrition.

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

E. Aller, H. Kayserili, P. Lapunzina, 2020, Human mutation.

Risk of mayor and minor birth defects in children conceived by assisted reproductive technology (IVF/ICSI): A prospective controlled cohort study

V. López‐González, M. Ballesta-Martínez, M. J. Sánchez Soler, 2021, Anales de Pediatría (English Edition).

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

Luciana Rodrigues da Silva, R. Holt, P. Calvas, 2018, Human Genetics.

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

P. Lapunzina, J. Nevado, E. Vallespín, 2016, Molecular genetics & genomic medicine.

Molecular characterization of a new patient with a non‐recurrent inv dup del 2q and review of the mechanisms for this rearrangement

J. Suela, E. Guillén-Navarro, M. Ballesta-Martínez, 2010, American journal of medical genetics. Part A.

A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia

E. Guillén-Navarro, M. Moya-Quiles, M. Ballesta-Martínez, 2010, Archives of Dermatological Research.

[Schinzel-Giedion syndrome: a new mutation in SETBP1].

E. Guillén-Navarro, L. Burglen, S. Whalen, 2015, Anales de pediatria.

Further refinement of COL4A1 and COL4A2 related cortical malformations.

N. Boddaert, L. Pasquier, J. Chelly, 2018, European journal of medical genetics.

Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies

E. Guillén-Navarro, V. López‐González, M. Ballesta-Martínez, 2015, American journal of medical genetics. Part A.

A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene

J. Arenas, Miguel Ángel Martín, C. Ugalde, 2023, International journal of molecular sciences.

A new seipin-associated neurodegenerative syndrome

Á. Ruibal, P. Aguiar, B. González-Méndez, 2013, Journal of Medical Genetics.

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2023, Genes.

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

E. Guillén-Navarro, M. Barreda-Sánchez, V. López‐González, 2023, Orphanet Journal of Rare Diseases.

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases

F. Santos-Simarro, S. Sousa, K. Heath, 2023, Clinical genetics.

Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation

M. Campo, J. Corral, V. Vicente, 2018, Pediatric Research.

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

A. Nordgren, B. Kerr, S. Banka, 2016, American journal of human genetics.

Adult syndromology: challenges, opportunities and perspectives

Nuria C. Bramswig, M. Ballesta-Martínez, Ariane Schmetz, 2024, Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V.