- Isolated 6q terminal deletions: an emerging new syndromeVeronica Bertini
Molecular Genetic Unit, A O U Pisana, Ospedale S Chiara, Via Roma 57, 56100 Pisa, Italy
Am J Med Genet A 140:74-81. 2006..Moreover, the potential role of FRA6E in generating these deletions is suggested...
- Ring chromosome 21 and reproductive pattern: a familial case and review of the literatureVeronica Bertini
Children s Department, Cytogenetics and Molecular Genetics Unit, Azienda Ospedaliera Universitaria Pisana, Ospedale S Chiara, Pisa, Italy
Fertil Steril 90:2004.e1-5. 2008..To characterize a ring chromosome 21 found in an infertile woman and in her mother...
- A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role for MBNLIVeronica Bertini
Unità di Genetica Medica, A O U Pisana, Ospedale S Chiara, Pisa, Italy
Am J Med Genet A . 2016..The potential role of MBNL1 in causing the WS phenotype is discussed. © 2016 Wiley Periodicals, Inc...
- Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsyAngelo Valetto
Cytogenetics and Molecular Genetic Unit, A O U Pisana, Ospedale S Chiara, Via Roma 57, Pisa, Italy
Eur J Med Genet 55:362-6. 2012..The minimal overlapping region contains only two genes, DYRK1A and KCNJ6, which may play a major role in these patients' phenotype...
- Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failureVeronica Bertini
Cytogenetics and Molecular Genetics Unit, Children s Department, A O U Pisana, S Chiara Hospital, Pisa, Italy
Fertil Steril 94:1097.e5-8. 2010..To characterize the breakpoints of a t(X;15) found in a woman with premature ovarian failure (POF)...
- 625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disabilityVeronica Bertini
Laboratorio di Genetica Medica, A O U Pisana, Ospedale S Chiara, Pisa, Italy
J Hum Genet 60:777-80. 2015..This case is one of the few examples where RPS6KA3 mutations are associated with a non-specific X-linked mental retardation...
- An idic(15) associated with POF (premature ovarian failure): molecular cytogenetic definition of a case and review of the literatureVeronica Bertini
Cytogenetic and Molecular Genetic Unit, Children Department, A O U Pisana, S Chiara Hospital, Pisa, Italy
Gene 503:123-5. 2012..The case here presented constitutes a further example that etiology of POF is not always associated with a defective gene, but in some cases oocytes atresia can be the consequence of the abnormal meiotic pairing of chromosomes...
- Molecular cytogenetic characterization of a translocation t(13;22)(q22.3;q11.23) in a patient with idiopathic partial epilepsyAngelo Valetto
Cytogenetics and Molecular Genetic Unit, A O U Pisana, Ospedale S Chiara, Pisa, Italy
Epilepsy Res 86:89-93. 2009....
- Cytogenetic study of 435 subfertile men: incidence and clinical featuresVeronica Bertini
Division of Cytogenetics and Molecular Genetics, Azienda Hospital, University of Pisa, Via Roma 57, 56100 Pisa, Italy
J Reprod Med 51:15-20. 2006..To evaluate the incidence of chromosomal anomalies in a series of unselected infertile men...
- Molecular and cytogenetic characterization of a structural rearrangement of the Y chromosome in an azoospermic manAngelo Valetto
Azienda Ospedaliera Universitaria Pisana, Pisa, Italy
Fertil Steril 81:1388-90. 2004..To better define an abnormal karyotype found in a male with primary infertility...
- Mosaic ring Y chromosome in two normal healthy men with azoospermiaVeronica Bertini
Laboratory of Cytogenetics and Molecular Genetics, Azienda Ospedaliera Universitaria Pisana, Pisa, Italy
Fertil Steril 84:1744. 2005..To better define by molecular and cytogenetic techniques ring Y chromosomes detected in 2 infertile men...
- Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosisGiuseppina Fogu
Department of Physiological, Biochemical and Cellular Sciences, University of Sassari, Via Muroni 5, 07100 Sassari, Italy
Arch Gynecol Obstet 269:25-9. 2003..We think that this simple, indirect test, is also suitable for prenatal diagnosis of Morris' syndrome when the mother is heterozygous for the size of the short tandem repeat and one affected subject in the family may be studied...