Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Sigfried Rotmensch"'
Autor:
Sigfried Rotmensch, Giuseppe Calabrese, Claudio Celentano, Elena di Vera, Paolo Guanciali-Franchi, Elisena Morizio, Marco Liberati
Publikováno v:
Journal of Assisted Reproduction and Genetics. 25:577-580
A fetus with rhombencephalosynapsis and prenatally diagnosed tetrasomy 9p is reported. Chromosomal analysis from amniocyte culture revealed non-mosaic supernumerary chromosome identified as isochromosome 9p (9p24--q13::q13--p24). Ultrasound scan reve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b795d60d148a46ff36181c8e45c68234
https://doi.org/10.1007/s10815-008-9257-7
https://doi.org/10.1007/s10815-008-9257-7
Autor:
Claudio Celentano, Sigfried Rotmensch, Marco Liberati, Paolo Guanciali-Franchi, Ilenia D’Emilio, Karen Melchiorre, Irene Iezzi
Publikováno v:
Fetal Diagnosis and Therapy. 23:15-17
Pallister-Killian syndrome (PKS) is a sporadic chromosomal anomaly, caused by a tissue-specific mosaic distribution of an additional isochromosome 12p. About 60 cases of prenatal diagnosis of PKS have been reported. Only 1 case of PKS is described on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba8d8f0d5bfa90620366a52466a46fd6
https://doi.org/10.1159/000109220
https://doi.org/10.1159/000109220
Autor:
Federico Prefumo, Armando Tartaro, Giuseppe Lattanzio, Marco Liberati, Claudio Celentano, Sigfried Rotmensch, Giuseppina Gallo
Publikováno v:
Prenatal Diagnosis. 26:1075-1077
Septal agenesis is a rare brain malformation that is characterized by partial or complete absence of the septum pellucidum, either isolated or associated with other brain anomalies. We report a case presenting with septal agenesis and normal optic ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da0bfdbf5c376eab71d78d27975bb896
https://doi.org/10.1002/pd.1559
https://doi.org/10.1002/pd.1559
Autor:
Sigfried Rotmensch, Marco Liberati, Irene Iezzi, Claudio Celentano, Chiara Palka, Federico Prefumo, Paolo Guanciali-Franchi
Objective: To investigate the relationship between maternal serum screening markers and pregnancy outcome in fetuses with cystic hygroma at 15–18 weeks of gestation. Study design: We retrospectively reviewed case-notes of 34 consecutive singleton f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85a43900fc333f43eb43984f1dfe82d2
http://hdl.handle.net/11379/525316
http://hdl.handle.net/11379/525316
Autor:
Sigfried Rotmensch, Claudio Celentano, Quirino Di Nisio, Giuseppina Gallo, Marco Liberati, Federico Prefumo
Publikováno v:
Journal of assisted reproduction and genetics. 23(6)
The association of occipital encephalocele, cleft palate, postaxial polydactyly, polycystic kidneys, and hepatic cysts is well known as Meckel–Gruber syndrome (MGS). Nowadays, the diagnosis of MGS is usually performed prenatally by ultrasound findi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3f0d8005884f8815af459fa56a5f13e
https://pubmed.ncbi.nlm.nih.gov/16832598
https://pubmed.ncbi.nlm.nih.gov/16832598
Autor:
Giandomenico Palka, Claudio Celentano, Paolo Guanciali-Franchi, Federico Prefumo, Sigfried Rotmensch, Marco Liberati
Publikováno v:
Journal of Medical Screening. 12:203-203
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e0186be01732731b4580d9f8f0c4401d
https://doi.org/10.1258/096914105775220651
https://doi.org/10.1258/096914105775220651