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Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
Noonan, LEOPARD, and cardiofaciocutaneous syndromes (NS, LS, and CFCS) are developmental disorders with overlapping features including distinctive facial dysmorphia, reduced growth, cardiac defects,Expand
Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques.
BACKGROUND This study analyses the prevalence of karyotype changes and Yq11 microdeletions among couples referred for assisted reproduction techniques. METHODS Prior to receiving either IVF or ICSIExpand
Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo- or azoospermia.
It has been proposed that interval 6 of the human Y chromosome contains the gene or genes that control spermatogenesis (AZF, azoospermia factor). We have studied this region in 33 patients withExpand
Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases
Multiplex Ligation-dependent Probe Amplification (MLPA) assay is a recently developed technique able to evidence variations in the copy number of several human genes. Due to this ability, MLPA can beExpand
A restricted spectrum of NRAS mutations causes Noonan syndrome
Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and variable cognitive deficits, is caused by constitutional dysregulation ofExpand
The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy
The 677T allele of the MTHFR gene has been suggested to represent a factor of risk for male infertility. In order to confirm this association, we investigated the presence of the 677T allele in 93Expand
C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy
The C677T polymorphism of the MTHFR gene has been associated to maternal risk of Down syndrome, due to the detection of an higher prevalence of the T allele among mothers of children with trisomy 21,Expand
Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women
Maternal impairments in folate metabolism and elevated homocysteinemia are known risk factors for having a child with Down syndrome (DS) at a young age. The 80G>A polymorphism of the reduced folateExpand
Acute Effects of Modafinil on Brain Resting State Networks in Young Healthy Subjects
Background There is growing debate on the use of drugs that promote cognitive enhancement. Amphetamine-like drugs have been employed as cognitive enhancers, but they show important side effects andExpand
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
Ectodermal dysplasias form a large disease family with more than 200 members. The combination of hair and tooth abnormalities, alopecia, and cutaneous syndactyly is characteristic of ectodermalExpand