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Odonto-onycho-dermal dysplasia (OODD), a rare autosomal-recessive inherited form of ectodermal dysplasia including severe oligodontia, nail dystrophy, palmoplantar hyperkeratosis, and hyperhidrosis, was recently shown to be caused by a homozygous nonsense WNT10A mutation in three consanguineous Lebanese families. Here, we report on 12 patients, from 11(More)
BACKGROUND XY gonadal dysgenesis (XY-GD) is a heterogeneous disorder characterized by failure of testicular development despite a normal male karyotype. Non-syndromic and syndromic forms can be delineated. Currently, only a minority of cases can be explained by gene mutations. METHODS The aim of this study was to detect microdeletions and duplications by(More)
OBJECTIVE Premature ovarian failure (POF) is a heterogeneous group of diseases with amenorrhea before the age of 40 years and elevated gonadotropins. Recently, heterozygous mutations in the X-linked gene encoding bone morphogenetic protein-15 (BMP15) have been identified as a possible cause of ovarian failure. STUDY DESIGN Molecular analysis of BMP15,(More)
OBJECTIVE To identify genetic causes of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. DESIGN Prospective laboratory study. SETTING University hospital. PATIENT(S) Fifty-six patients with MRKH syndrome. INTERVENTION(S) Identification of microdeletions and -duplications in a group of 48 MRKH patients by array-CGH. Results obtained by array-CGH were(More)
Although the genetic basis of human sexual determination and differentiation has advanced considerably in recent years, the fact remains that in most subjects with disorders of sex development (DSD) the underlying genetic cause is unknown. Where pathogenic mutations have been identified, the phenotype can be highly variable, even within families, suggesting(More)
Premature ovarian failure (POF) is a heterogeneous group of disorders with amenorrhea and high serum gonadotropins in women of less than 40 years. Ovarian dysgenesis (OD) which is characterised by the loss of follicles before puberty describes the most severe POF outcome. Although a multitude of different factors including non-genetic as well as genetic(More)
A genetic origin is estimated in 30% of infertile men with the common phenotypes of oligo- or azoospermia, but the pathogenesis of spermatogenic failure remains frequently obscure. To determine the involvement of Copy Number Variants (CNVs) in the origin of male infertility, patients with idiopathic severe oligozoospermia (N = 89), Sertoli-cell-only(More)
BACKGROUND AND AIMS In the human stomach expression of TNF-related apoptosis inducing ligand (TRAIL) and its receptors and the modulatory role of Helicobacter pylori are not well described. Therefore, we investigated the effect of H. pylori on the expression of TRAIL, FasL and their receptors (TRAIL-R1-R4, Fas) in gastric epithelial cells and examined their(More)
OBJECTIVE Ovotesticular disorder of sexual development (DSD) is an unusual form of DSD, characterized by the coexistence of testicular and ovarian tissue in the same individual. In a subset of patients, ovotesticular DSD is caused by 46,XX/46,XY chimerism or mosaicism. To date, only a few monogenetic causes are known to be associated with XX and XY(More)
BACKGROUND The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women who usually have normal ovaries and a 46, XX karyotype. MRKH can occur as an isolated form (type I) or in combination with various malformations as a syndromic or a type II MRKH. To date, in most of the(More)