13 Result(s)
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Joanne Traeger-Synodinos
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Article
Open AccessGenetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder typified by various combination of numerous Café-au-lait macules, cutaneous and plexiform neurofibromas, freckling of inguinal or axillary regio...
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Article
Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome
IGSF1 deficiency syndrome (immunoglobulin superfamily member 1) is considered the most common sex-linked cause of secondary congenital hypothyroidism and is characterized by a wide variety of other clinical an...
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Article
Genetic screening of hypertensive patients with aldosterone hypersecretion under conditions of stress
Although ACTH is considered a secondary regulator of aldosterone production, patients with apparent essential hypertension have been treated with mineralocorticoid receptor antagonists (MRAs). In this study, w...
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Article
Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype
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Detection of acquired hemoglobinopathy in children with hematological malignancies at disease onset: results form a national referral centre
Abnormal hemoglobin synthesis is usually inherited but may also arise as a secondary manifestation of a hematological neoplasia. The objective of this study is to identify the presence of acquired hemoglobinop...
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Article
Psychomotor development of children born after preimplantation genetic diagnosis and parental stress evaluation
The increasing number of children conceived following preimplantation genetic diagnosis (PGD) necessitates the evaluation of their motor and cognitive development. The primary study objective was to evaluate t...
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Article
Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation
Frasier syndrome (FS) phenotype in 46,XY patients usually consists of female external genitalia, gonadal dysgenesis, high risk of gonadoblastoma and the development of end stage renal failure usually in the se...
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Article
Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms’ tumor 1 (WT1) gene
Mutations in the Wilms’ tumor suppressor gene 1 (WT1), most commonly within exons 8 or 9 or intron 9, are found in cases with the overlap** conditions of Denys–Drash and Frasier syndromes, as well as in patient...
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Article
Phenotypic and Genotypic Variability in Four Males With MECP2 Gene Sequence Aberrations Including a Novel Deletion
The MECP2 gene mutations cause Rett syndrome (RTT) (OMIM: 312750), an X-linked dominant disorder primarily affecting girls. Until RTT was considered lethal in males, although now approximately 60 cases have been ...
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Protocol
Rapid Detection of Fetal Mendelian Disorders: Thalassemia and Sickle Cell Syndromes
The inherited disorders of hemoglobin synthesis constitute themost commonmonogenic diseases worldwide. The clinical severity of β-thalassemia major and the sickle cell syndromes targets themas priority genetic...
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Article
Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study
A 32-day-old girl with massive hypertriglyceridaemia and clinical signs of chylomicronaemia syndrome is described. Genetic study of the patient revealed compound heterozygosity for a common lipoprotein lipase ...
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Article
Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands
This study reports the characterization of 60% of low density lipoprotein receptor (LDLR) gene mutations in 150unrelated Greek familial hypercholes-terolaemia (FH) heterozygous children by the analysis of six...
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Article
Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation
To initiate the complete characterization of mutations in the CFTR gene in Greek cystic fibrosis (CF) patients, we screened 184 patients for six relatively common mutations (AF 508, G542X, G551D, 621+1 G→T, N1...
