Chromosome 17q21.31 microdeletion was one of the first genomic disorders identified by chromosome microarrays. We report here the clinical and molecular characterization of a new series of 14 French patients with this microdeletion syndrome. The most frequent clinical features were hypotonia, developmental delay and facial dysmorphism, but scaphocephaly, prenatal ischemic infarction and percept...

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background: infertility is a health problem which affects about 10-20% of married couples. male factor infertility is involved approximately 50% of infertile couples. most of male infertility is regarding to deletions in the male-specific region of the y chromosome. objective: in this study, the occurrence of deletions in the azf region and association between infertility and paternal age were ...

objective: 22q11.2 chromosomal region is a hot spot for many cytogenetic rearrangements especially microdeletions which are responsible for digeorge and velocardiofacial syndromes. the most characteristic sign in these patients is congenital cardiac conotruncal anomalies. the gold standard diagnostic test for these microdeletions is fish (fluorescent in situ hybridization). however this diagnos...

Kleefstra syndrome is characterized by the core phenotype of developmental delay/intellectual disability, (childhood) hypotonia and distinct facial features. The syndrome can be either caused by a microdeletion in chromosomal region 9q34.3 or by a mutation in the euchromatin histone methyltransferase 1 (EHMT1) gene. Since the early 1990s, 85 patients have been described, of which the majority h...

BACKGROUND While multiple factors can contribute to male infertility, genetic factors, such as chromosomal disorders or Y-chromosome microdeletion, are responsible for about 10% of male infertility. Considering the role of Y-chromosome micro-deletions in men with oligozoospermia who volunteer for in vitro fertilization (IVF), the prevalence of such microdeletions in each particular community ne...

BACKGROUND As children with velocardiofacial syndrome (VCFS) develop, they are at increased risk for psychopathology; one third will eventually develop schizophrenia. Because VCFS and the concomitant symptomatology result from a known genetic origin, the biological and behavioral characteristics of the syndrome provide an optimal framework for conceptualizing the associations among genes, brain...

Controlled orientation of a small laccase on a multi-walled carbon nanotube electrode was achieved via copper-free click chemistry mediated immobilization. Modification of the enzyme was limited to only the tethering site and involved the genetic incorporation of the unnatural amino acid 4-azido-L-phenylalanine (AzF). This approach enabled efficient direct electron transfer.

Angiotensin II (ANG II) inhibits bTREK-1 (bovine KCNK2) K(+) channels in bovine adrenocortical cells through a Gq-coupled AT(1) receptor by activation of separate Ca(2+)- and ATP hydrolysis-dependent signaling pathways. Whole cell patch-clamp recording from bovine adrenal zona fasciculata (AZF) cells was used to characterize the ATP-dependent signaling mechanism for inhibition of bTREK-1 by ANG...

Received: 22 December 2014 Revised: 26 April 2015 Accepted: 12 May 2015 Abstract Background: Infertility is a health problem which affects about 10-20% of married couples. Male factor infertility is involved approximately 50% of infertile couples. Most of male infertility is regarding to deletions in the male-specific region of the Y chromosome. Objective: In this study, the occurrence of delet...