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Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

To estimate the contribution of single and multi-exon NF1 gene copy-number changes to the NF1 mutation spectrum, we analysed a series of 201 Italian patients with neurofibromatosis type 1 (NF1). Of these, 138 had previously been found, using denaturing high-performance liquid chromatography or protein truncation test, to be heterozygous for intragenic NF1 point mutations/deletions/insertions, and were excluded from this analysis. The remaining 63 patients were analysed using multiplex ligatio...

Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization

Complex chromosomal rearrangements (CCRs) are structural aberrations involving more than 2 chromosomal breakpoints. They are associated with different outcomes depending on the deletion/duplication of genomic material, gene disruption, or position effects. Balanced CCRs can also undergo missegregation during meiotic division, leading to unbalanced derivative chromosomes and, in some cases, to affected offspring. We report on a patient presenting with developmental and speech delay, growth ret...

High rate of Helicobacter pylori re-infection in patients affected by type 1 diabetes

High prevalence of celiac disease in patients with lactose intolerance

Background/Aims: Acquired lactase deficiency is a common cause of gastrointestinal symptoms but its etiology remains unclear. Celiac disease could lead to lactase deficiency and is much more common than previously suspected. Several studies have highlighted the prevalence of lactose intolerance in celiac disease, but studies assessing the prevalence of celiac disease in lactose intolerance are lacking. We evaluated the prevalence of celiac disease in patients with a positive H2-lactose breath...

Interferon-γ-induced intracellular calcium increase in T lymphocytes from patients with multiple sclerosis precedes clinical exacerbation and detection of active lesions on MRI

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Testo statico 2

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Upper arch dimensional changes with clear aligners in the early mixed dentition
An Innovative Model of University Cooperation in Developing Countries: Results of 5 Years of Experience in Internal Medicine, Health Promotion and Education
Effects of pendulum appliance versus clear aligners in the vertical dimension during Class II malocclusion treatment: a randomized prospective clinical trial
Shared care plan: an extraordinary tool for the personalisation of medicine and respect for self-determination
"Occult" ovarian Leydig cell tumor: when laboratory tells more than imaging
'Tissue' transglutaminase ablation reduces neuronal death and prolongs survival in a mouse model of Huntington's disease
50-Hz extremely low frequency electromagnetic fields (ELF-EMF) enhance cell proliferation and DNA damage: possible involvement of a redox mechanism
Placental Dysfunction in Assisted Reproductive Pregnancies: Perinatal, Neonatal and Adult Life Outcomes
A case report of a giant rectal adenoma causing secretory diarrhea and acute renal failure: McKittrick-Wheelock syndrome
Adverse effects of engineered nanomaterials: exposure, toxicology and impact on human health: Second Edition

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Development and content validity of educational videos on self‐management of fluid restriction and thirst for individuals with heart failure
Functional outcomes of copy number variations of Chrna7 gene: current knowledge and new insight from induced pluripotent stem cells studies
Upper arch dimensional changes with clear aligners in the early mixed dentition
Conventional versus laser gingivectomy in the management of gingival enlargement during orthodontic treatment: a randomized controlled trial
Evaluation of maxillary arch dimensions and palatal morphology in mouth-breathing children by using digital dental casts
Characterization of Cell Death Pathways in Human Immunodeficiency Virus-Associated Encephalitis
Profiling complete regression after pre-operative therapy in gastric cancer patients using clinical and pathological data
Effects of pendulum appliance versus clear aligners in the vertical dimension during Class II malocclusion treatment: a randomized prospective clinical trial
Evaluation of immunity for mumps among vaccinated medical students
A case report of a giant rectal adenoma causing secretory diarrhea and acute renal failure: McKittrick-Wheelock syndrome

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Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization

High rate of Helicobacter pylori re-infection in patients affected by type 1 diabetes

High prevalence of celiac disease in patients with lactose intolerance

Interferon-γ-induced intracellular calcium increase in T lymphocytes from patients with multiple sclerosis precedes clinical exacerbation and detection of active lesions on MRI

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