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View article: Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape
Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape Open
Severe loss of function variants in the splicing regulatory protein RBM10 are known to cause TARP syndrome, a rare X-linked recessive congenital syndrome. In recent years, individuals with milder phenotypes have been published, suggesting …
View article: Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome Open
Bainbridge–Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, a…
View article: The expanding clinical and genetic spectrum of <i>DYNC1H1</i>-related disorders
The expanding clinical and genetic spectrum of <i>DYNC1H1</i>-related disorders Open
Intracellular trafficking involves an intricate machinery of motor complexes, including the dynein complex, to shuttle cargo for autophagolysosomal degradation. Deficiency in dynein axonemal chains, as well as cytoplasmic light and interme…
View article: Galunisertib downregulates mutant type I collagen expression and promotes MSCs osteogenesis in pediatric osteogenesis imperfecta
Galunisertib downregulates mutant type I collagen expression and promotes MSCs osteogenesis in pediatric osteogenesis imperfecta Open
Qualitative alterations in type I collagen due to pathogenic variants in the COL1A1 or COL1A2 genes, result in moderate and severe Osteogenesis Imperfecta (OI), a rare disease characterized by bone fragility. The TGF-β signaling pathway is…
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro Open
Joubert syndrome (JS) is a recessively inherited congenital ataxia characterized by hypotonia, psychomotor delay, abnormal ocular movements, intellectual disability, and a peculiar cerebellar and brainstem malformation, the “molar tooth si…
Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas Open
Desmoid tumor (DT) is a fibroblastic proliferation arising in soft tissue characterized by localized infiltrative growth with an inability to metastasize but with a tendency to recurrence. Nuchal-type fibromas are benign soft tissue lesion…
View article: Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients Open
SUMMARY Background KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been published. Both loss-of-function sequence variants and large deletions (CNVs) involvin…
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals Open
Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the SHANK3 gene. SHANK3 codes for a structural pro…
View article: <i>PIGN</i>encephalopathy: Characterizing the epileptology
<i>PIGN</i>encephalopathy: Characterizing the epileptology Open
Objective Epilepsy is common in patients with PIGN diseases due to biallelic variants; however, limited epilepsy phenotyping data have been reported. We describe the epileptology of PIGN encephalopathy. Methods We recruited patients with e…
Circulating TGF-β Pathway in Osteogenesis Imperfecta Pediatric Patients Subjected to MSCs-Based Cell Therapy Open
Osteogenesis Imperfecta (OI) is a rare genetic disease characterized by bone fragility, with a wide range in the severity of clinical manifestations. The majority of cases are due to mutations in COL1A1 or COL1A2 , which encode type I coll…
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications Open
Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic lands…
Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro‐osteogenic paracrine response: TERCELOI clinical trial Open
Background Osteogenesis imperfecta (OI) is a rare genetic disease characterized by bone fragility, with a wide range in the severity of clinical manifestations. The majority of cases are due to mutations in the COL1A1 or COL1A2 genes, whic…
View article: Primrose syndrome: Characterization of the phenotype in 42 patients
Primrose syndrome: Characterization of the phenotype in 42 patients Open
Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down‐slanting palpebral fissures), calcified external ears, sparse body hair and…
View article: Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability Open
X-linked intellectual disability (XLID) is known to contribute up to 10% of intellectual disability (ID) in males and could explain the increased ratio of affected males observed in patients with ID. Over the past decade, next-generation s…
Suitability and limitations of mesenchymal stem cells to elucidate human bone illness Open
Functional impairment of mesenchymal stem cells (MSCs), osteoblast progenitor cells, has been proposed to be a pathological mechanism contributing to bone disorders, such as osteoporosis (the most common bone disease) and other rare inheri…
View article: Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Open
The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the PDF and HTML versions of…
Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report Open
The absence of some CdCS features in the current patient could be due to the fact that in her case the critical regions responsible do not lie within the identified deletion. In fact, a literature review revealed a high degree of concordan…
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia Open
Mutations in PAX6 are involved in several developmental eye disorders. These disorders have considerable phenotypic variability, ranging from panocular forms of congenital aniridia and microphthalmia to isolated anomalies of the anterior o…
View article: The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants Open
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A…
Additional file 2: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing Open
Poorly covered amplicons (mean coverage
Additional file 4: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing Open
POLH founder mutation in Northern Spain. Haplotype analysis was performed on the 6 XP-variant patients coming from Northern Spain with mutations in the POLH gene (chr6:43,543,878-43,588,260[hg19]). Despite a genome wide study using the Ill…
Additional file 1: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing Open
Spectrum of previously identified variations within the validation cohort of 11 patients. 11 patients already tested by Sanger sequencing of ERCC6(CSB) and/or ERCC8(CSA) genes were explored by targeted NGS strategy. All 63 previously ident…