Zobrazeno 1 - 10
of 20
pro vyhledávání: '"M. C. Tozzi"'
Autor:
Esterina Pascale, Ettore D'Ambrosio, Barbara Angeletti, Paola Giammaria, Bruni L, Roberto Verna, M. C. Tozzi
Publikováno v:
Scopus-Elsevier
Genotyping with flanking DNA markers was used to ascertain Treacher Collins Franceschetti syndrome (TCOF1) in a subject affected by tetralogy of Fallot and cryptorchidism. The proband's family consisted of a father and sister who were affected by the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0992c86d35125d78e0806e1992b01af2
https://doi.org/10.1111/j.1399-0004.1996.tb02354.x
https://doi.org/10.1111/j.1399-0004.1996.tb02354.x
Autor:
Bruni L, Grazia Raguso, M. C. Tozzi, Valerio De Stefano, Maria Paola Smacchia, Luigi Tarani, Metello Iacobini
Publikováno v:
Journal of Pediatric Hematology/Oncology. 24:769-771
Venous thrombosis of transverse and sigmoid sinuses was diagnosed in a 3-year-old child who is a carrier of the G20210A prothrombin gene mutation. Recombinant tissue plasminogen activator (rt-PA) treatment was started 9 days following the onset of ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb8e27c1db4e3703bde8eb0f6578d244
https://doi.org/10.1097/00043426-200212000-00019
https://doi.org/10.1097/00043426-200212000-00019
Nello studio della sincope, l’analisi spettrale della variabilità della frequenza cardiaca (HRV) mediante analisi autoregressiva (AR) durante tilt test, rappresenta un ottimo strumento per ottenere informazioni sull’equilibrio simpatico-vagale.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______4094::064b45d586ca15e9764a83df41e80603
http://hdl.handle.net/11585/51343
http://hdl.handle.net/11585/51343
A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome
Autor:
Bruni L, Ettore D'Ambrosio, M. C. Tozzi, Roberto Verna, Vignetti P, E. Battiloro, Barbara Angeletti, Sergio Tondini
Publikováno v:
Human genetics. 100(5-6)
We describe a novel double nucleotide substitution in the SRY gene of a 46,XY female with gonadal dysgenesis or Swyer syndrome. The SRY sequence was analysed by both the single-strand conformational polymorphism assay and direct DNA sequencing of pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cc47991fb854462c3a06a93bb379fc9
https://pubmed.ncbi.nlm.nih.gov/9341876
https://pubmed.ncbi.nlm.nih.gov/9341876
Publikováno v:
European review for medical and pharmacological sciences. 1(4)
The authors report on a case of Pediatric Systemic Lupus Erythematosus (SLE) in a female child aged 3 1/2 with a set of peculiar clinical and serologic characteristics; early onset of the disease, non-specific clinical signs, high serum levels of IgG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c7827a493d8480fc7cc283086feeb523
https://pubmed.ncbi.nlm.nih.gov/9558773
https://pubmed.ncbi.nlm.nih.gov/9558773
Publikováno v:
International journal of sports medicine. 17(3)
In Ancient Greece determination of sex was made by direct observation of the all-male athletes participating in the Olympic Games. In 1966 the International Olympic Committee (I.O.C.) established that female athletes must submit to a complete physica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5e3e4f9c4e6e616c5461f6857449713
https://pubmed.ncbi.nlm.nih.gov/8739581
https://pubmed.ncbi.nlm.nih.gov/8739581
Publikováno v:
La Pediatria medica e chirurgica : Medical and surgical pediatrics. 17(1)
The Authors describe a newborn with costal hypoplasia and vertebral malformation, tracheoesophageal fistula, congenital heart disease and closed hands with the second and third finger overlapping. Cytogenetic findings indicated trisomy 18 [47, XX, -1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8bb5800e86f9d4572a840c1a0120afd9
https://pubmed.ncbi.nlm.nih.gov/7739936
https://pubmed.ncbi.nlm.nih.gov/7739936
Publikováno v:
Minerva pediatrica. 45(1-2)
The authors report the case of an 8-year-old Libyan boy who presented with hypertension, episodes of vomiting and headaches during the past year. Routine blood tests, including nitrogen and urea clearances, were normal; an ultrasound scan and a urogr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0c410bb0a89ff5e343d47a79ffc65c83
https://pubmed.ncbi.nlm.nih.gov/8316161
https://pubmed.ncbi.nlm.nih.gov/8316161
We report a case of hepatic mesenchymoma in an 8-year-old girl who presented with abdominal pain and ultrasonographic diagnosis of hepatic echinococcosis. Due to the good general condition of the patient and the diagnostic confirmation of liver hydat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae6a372a7addea6bce7a5eb14c860dbd
http://hdl.handle.net/11573/115202
http://hdl.handle.net/11573/115202
Publikováno v:
La Pediatria medica e chirurgica : Medical and surgical pediatrics. 12(3)
Mycoplasma pneumoniae (M.p.) is generally responsible of upper and lower respiratory tract infections in children in school age; in about 2% of cases can be also considered the cause of a NS infection: meningitis, encephalitis, cerebellitis, transver
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c0e9ca5317849a729f2f78c759bfe793
https://pubmed.ncbi.nlm.nih.gov/2125721
https://pubmed.ncbi.nlm.nih.gov/2125721