Publications by authors named "M L Houlier"
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
J Med Genet
August 2019
Article Synopsis
- A study investigated balanced chromosomal rearrangements in patients with intellectual disabilities and congenital anomalies using next-generation sequencing to identify breakpoints at a molecular level.
- The research characterized breakpoints in 55 patients, revealing that 89% of chromosomal rearrangements were detected, with non-homologous end-joining identified as the primary repair mechanism.
- The study found that a diagnosis could be established in about 44.8% of patients, revealing disruptions in genes and suggesting that paired-end whole genome sequencing is effective for clinical applications in structural variation analysis.
Kikuchi-Fujimoto disease, also known as histiocytic necrotizing lymphadenitis, is a rare cause of lymphadenopathy in children. This benign disease can mimic lymphoma and misleads doctors. It was first described in Asia, where it occurred especially in young women.
View Article and Find Full Text PDFObjectives: To evaluate the association between the presence of antiphospholipid (APL) antibodies and the occurrence of autism spectrum disorder (ASD) in childhood.
Methods: A prospective, monocentric case-control study from February 2012 to August 2014 comparing the APL antibodies of children with ASD (group 1) and children without ASD (group 2).
Results: Group 1 consisted of 44 children with ASD defined by clinical, genetic, metabolic, and morphological criteria.
The most common thyroid abnormality among Down syndrome (DS) children corresponds to a mildly elevated TSH, with T4 decreased or in the normal range and thyroid hypoplasia, from the neonatal period onward, which aggravate their mental impairment. Transgenic Dyrk1A mice, obtained by bacterial artificial chromosome engineering (mBACTgDyrk1A), have 3 copies of the Dyrk1A gene. The objective is to determine whether this transgenic Dyrk1A (Dyrk1A(+/++)) mouse is an adequate murine model for the study of thyroid dysgenesis in DS.
View Article and Find Full Text PDFThe aim of this work was to test the hypothesis that the trophic effect of lentil feeding on large intestine results from a stimulation of protein synthesis and to determine whether it interferes with protein metabolism in other splanchnic or peripheral organs. Two groups of growing Sprague Dawley male rats were pair-fed iso-caloric iso-nitrogenous balanced diets containing either cooked lentils (Lens esculenta puyensis) or casein as unique protein source. Protein synthesis rates were measured in vivo, in large intestine, liver and gastrocnemius at the postprandial state.
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