Browsing by Author "Callea, Michele"
Now showing items 1-10 of 10
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A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.
Callea, Michele; Willoughby, Cohn Eric; Camarata-Scalise, Francisco; Giovannoni, Isabelle; Vinciguerra, Agatino; Yavuz, Izzet; Di Stazio, Mariateresa (Inst Investigacion Clinica, 2017)Marfan syndrome is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located on chromosome 15q21.1 and encoding fibrillin 1. We report ... -
Cleidocranialdysplasia. Amolecularandclinicalreview
Fortunato, Leonzio; Yavuz, İzzet; Plotino, Gianluca; Avendano, Andrea; Callea, Michele; Grande, Nicola Maria; Rizal, Mochamad Fahlevi (2018)Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder characterized by skeletal and dental abnormalities primarily, short stature, aplasia or hypoplasia of clavicles, open fontanelles and supernumerary teeth. ... -
Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia
Callea, Michele; Yavuz, Izzet; Clarich, Gabriella; Cammarata-Scalisi, Francisco (Soc Argentina Pediatria, 2015)Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. ... -
Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia
Callea, Michele; Cammarata-Scalisi, Francisco; Willoughby, Colin E.; Giglio, Sabrina R.; Sani, Ilaria; Bargiacchi, Sara; Traficante, Giovanna (Soc Argentina Pediatria, 2017)Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused ... -
Ear nose throat manifestations in hypoidrotic ectodermal dysplasia
Callea, Michele; Teggi, Roberto; Yavuz, Izzet; Tadini, Gianluca; Priolo, Manuela; Crovella, Sergio; Clarich, Gabriella (Elsevier Ireland Ltd, 2013)The ectodermal dysplasias (EDs) are a large and complex group of inherited disorders. In various combinations, they all share anomalies in ectodermal derived structures: hair, teeth, nails and sweat gland function. Clinical ... -
Estudio clínico y molecular en una familia con displasia cleidocraneal
Callea, Michele; Fattori, Fabiana; Bertini, Enrico Silvio; Yavuz, İzzet; Bellacchio, Emanuele; Avendaño, Andrea (Sociedad Argentina de Pediatria, 2017)Cleidocranial dysplasia is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface hypoplasia, absence or hypoplasia of clavicles and orodental ... -
An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases
Dogan, Mehmet-Sinan; Callea, Michele; Yavuz, Izzet; Aksoy, Orhan; Clarich, Gabriella; Gunay, Ayse; Gunay, Ahmet (Medicina Oral S L, 2015)Background: This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clincal examination and examination of the jaw ... -
A new biological approach to guided bone and tissue regeneration
The purpose of this study was to determine the potential of platelet-rich fibrin (PRF) membranes used for guided bone and tissue regeneration. A patient with insufficient alveolar ridge width in aesthetic zone was enrolled. ... -
A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene
Callea, Michele; Fattori, Fabiana; Yavuz, İzzet; Bertini, Enrico (BMJ Publishing Group, 2012)The RUNX2 gene is a physiological regulatory gene implicated in the development of cleidocranial dysplasia (CCD). A 13-month-old child presented with clinical features of CCD. At the age of 3 years the diagnosis was ... -
A Rare Case of Hutchinson-Gilford Progeria Syndrome with Early Dental Loss without Decay
Pekdemir, Tugce N.; Ozturk, Duygu; Cetindag, Merve T.; Akleyn, Ebru; Sariyildiz, Cansu O.; Callea, Michele; Yavuz, Izzet (Univ Indonesia, 2018)Hutchinson-Gilford progeria syndrome (HGPS) is a rare autosomal recessive genetic disorder that occurs as a point mutation in the LMNA gene. It is a rare hereditary disorder, with approximately 100 cases reported in the ...
