Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Florina NEDELEA"'
Autor:
Ina Ofelia FOCSA, Magdalena BUDISTEANU, Cristina STOICA, Florina NEDELEA, Claudia JURCA, Lavinia CABA, Lacramioara BUTNARIU, Monica PANZARU, Cristina RUSU, Mihaela BALGRADEAN
Publikováno v:
Modern Medicine, Vol 29, Iss 1, Pp 37-42 (2022)
Bardet Biedl syndrome (BBS) is a rare primary ciliopathy with a complex and extremely variable clinical presentation. The core features of the disease are rod-cone dystrophy, postaxial polydactyly, central obesity, urogenital anomalies, learning diff
Externí odkaz:
https://doaj.org/article/4183892bc94249f2ae6e415605038429
Autor:
Aurora Sima, Roxana Elena Smădeanu, Anca Angela Simionescu, Florina Nedelea, Andreea-Maria Vlad, Cristina Becheanu
Publikováno v:
Children, Vol 9, Iss 5, p 759 (2022)
Background: Menke–Hennekam syndrome (MHS) is a rare and recently described syndrome consecutive to the variants in exon 30 or 31 in CREBBP (CREB-binding protein gene). The CREB-binding protein (CREBBP) and EP300 genes are two commonly expressed gen
Externí odkaz:
https://doaj.org/article/a27e7c4625e94531a4c73960ac020453
Autor:
Alexandra Bouariu, Ana Maria Scutelnicu, Anca Marina Ciobanu, Brîndușa Ana Cimpoca Raptis, Andreea Elena Dumitru, Florina Nedelea, Nicolae Gică, Anca Maria Panaitescu
Publikováno v:
Diagnostics, Vol 11, Iss 12, p 2332 (2021)
An allantoic cyst is a rare malformation with a frequency of 3 in 1,000,000 that may be seen antenatally by ultrasound assessment when the connection between the cloaca (future bladder) and the allantois fails to regress. A patent urachus that presen
Externí odkaz:
https://doaj.org/article/9a06819ad3dc49a1a23c94e34d297bf7
Autor:
Anca Maria Panaitescu, Simona Duta, Nicolae Gica, Radu Botezatu, Florina Nedelea, Gheorghe Peltecu, Alina Veduta
Publikováno v:
Diagnostics, Vol 11, Iss 1, p 142 (2021)
Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth
Externí odkaz:
https://doaj.org/article/1a069ef277234c3ea06c002786d348a6
Publikováno v:
Frontiers in Endocrinology, Vol 9 (2018)
BackgroundThe importance of fetal nuchal translucency was highlighted in the early 1990s as a useful first-trimester marker to identify fetal chromosomal abnormalities. Here, we report the prenatal diagnosis of a fetus with Niemann–Pick disease typ
Externí odkaz:
https://doaj.org/article/a2889b9ab72745478a27f0eb6d33ef9e
Autor:
Florina Nedelea, Simona Duta, Alina Veduta, Gheorghe Peltecu, Nicolae Gică, Anca Maria Panaitescu, Radu Botezatu
Publikováno v:
Diagnostics
Diagnostics, Vol 11, Iss 142, p 142 (2021)
Diagnostics, Vol 11, Iss 142, p 142 (2021)
Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2116693c068aed38d7ca420f816d6de8
http://europepmc.org/articles/PMC7835910
http://europepmc.org/articles/PMC7835910
Autor:
Florina Nedelea, Ana Maria Vayna, Sabrina Ioana Stoica, Anca Maria Panaitescu, Gheorghe Peltecu, Alina Veduta, Simona Duta, Natalia Florina Buinoiu
Publikováno v:
Journal of Ultrasound in Medicine. 37:2063-2073
Objectives To assess the performance of first-trimester ultrasound (US) in identifying major fetal structural abnormalities in an unselected population. Methods We conducted a retrospective analysis of all pregnancies that underwent the 11- to 14-wee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e3593a6cca096c7242ad074f084e7a5d
https://doi.org/10.1002/jum.14561
https://doi.org/10.1002/jum.14561
Autor:
Hans-Christoph Duba, Alina Veduta, Gheorghe Peltecu, Anca Maria Panaitescu, Ana-Maria Vayna, Florina Nedelea, Simona Duta
Publikováno v:
Journal of Medicine and Life
We present a family in which the first child was diagnosed with dopa-responsive dystonia based on biochemical findings only. Dopa-responsive dystonia is a severe heterogeneous genetic disease. The possibly involved genes are GCH1 and TH. In their sec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deac3a16e318ec8d16c584c4e49bf14a
https://doi.org/10.25122/jml-2018-0076
https://doi.org/10.25122/jml-2018-0076
Autor:
Gheorghe Peltecu, Florina Nedelea, Ana Maria Vayna, Simona Duta, Alina Veduta, Anca Maria Panaitescu
Publikováno v:
The journal of maternal-fetalneonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. 34(9)
We present the results of a detailed protocol of fetal heart examination in the first trimester, in a fetal medicine unit in Romania.Since October 2009, in Filantropia Hospital in Bucharest, we have systematically assessed pregnancies at 11-14 weeks
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7da81ca2cb44608b6ea90ec854b89ef5
https://pubmed.ncbi.nlm.nih.gov/31282223
https://pubmed.ncbi.nlm.nih.gov/31282223
Autor:
Brîndusa Ana, Cimpoca, Florina, Nedelea, Mirona, Furtuna, Gheorghe, Peltecu, Anca Maria, Panaitescu
Publikováno v:
Maedica. 11(3)
Crohn’s disease (CD) is a chronic infl ammatory bowel disease with onset during reproductive age. Advancement in medical therapies and treatment strategies have made pregnancy following a diagnosis of CD a viable and safe option for more women with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a50864e9f176eaf5b26d14b0499d3a9a
https://pubmed.ncbi.nlm.nih.gov/28694857
https://pubmed.ncbi.nlm.nih.gov/28694857