Célia Bádenas

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Within the past few years, there has been a significant change in identifying and characterizing the FMR1 premutation associated phenotypes. The premutation has been associated with elevated FMR1 mRNA levels and slight to moderate reductions in FMRP levels. Furthermore, it has been established that approximately 20% of female premutation carriers present(More)
Hearing loss involves both genetic and environmental factors. A mutation (A1555G) in the mtDNA has been associated with aminoglycoside-induced and nonsyndromic sensorineural deafness. The pathological significance of this mutation in Caucasoid families has not been established, and its relationship with antibiotic treatment is not well understood. We(More)
So far, no common environmental and/or phenotypic factor has been associated with melanoma and renal cell carcinoma (RCC). The known risk factors for melanoma include sun exposure, pigmentation and nevus phenotypes; risk factors associated with RCC include smoking, obesity and hypertension. A recent study of coexisting melanoma and RCC in the same patients(More)
Familial benign hematuria (FBH) is a common autosomal dominant disorder characterized by the presence of persistent or recurrent hematuria. The clinical and pathologic features of this syndrome resemble those of early Alport syndrome (AS), and for this reason a common molecular defect has been proposed. The COL4A3/4 genes seem to be involved in both(More)
BACKGROUND Alport's syndrome (AS) is a genetically heterogeneous renal hereditary disease. Mutations in collagen type IV genes have been described to be responsible for X-linked (COL4A5), autosomal recessive, and autosomal dominant AS (COL4A3/COL4A4). Moreover, at least 40% of benign familial hematuria (BFH) cases cosegregate with the COL4A3/COL4A4 loci,(More)
BACKGROUND To study the sonographic pattern of autosomal recessive polycystic kidney disease (ARPKD) in early adulthood in order to identify imaging criteria to diagnose this disease and to distinguish between recessive and autosomal dominant polycystic kidney disease (ADPKD) in that age group. METHODS An abdominal ultrasound was performed on four ARPKD(More)
Pancreatic cysts are an uncommon extrarenal clinical feature of autosomal dominant polycystic kidney disease (ADPKD). The prevalence of pancreatic cysts, sonographically assessed in ADPKD and in the different typs of ADPKD (PKD1 and PKD2) has not been reported. We have studied 173 ADPKD patients and 160 non-affected family members and found a prevalence of(More)
BACKGROUND Autosomal dominant polycystic kidney disease (ADPKD) is genetically heterogeneous, with at least three chromosomal loci accounting for the disease. Mutations in the PKD2 gene on the long arm of chromosome 4 are expected to be responsible for approximately 15% of cases of ADPKD. METHODS We report a systematic screening for mutations covering the(More)
BACKGROUND Cutis laxa is an extremely rare disorder characterized by marked skin laxity. Few cases of cutis laxa have been described worldwide. Clinical presentation and mode of inheritance show considerable heterogeneity; autosomal dominant, autosomal recessive, and X-linked recessive forms have been reported. Only 3 mutations in the elastin gene have been(More)