Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Codruţa Diana Petcheşi"'
Autor:
Alexandru Daniel Jurca, Larisa Bianca Galea-Holhos, Aurora Alexandra Jurca, Diter Atasie, Codruta Diana Petchesi, Emilia Severin, Claudia Maria Jurca
Publikováno v:
Medicina, Vol 60, Iss 7, p 1064 (2024)
Background and Objectives: Wolfram syndrome type 1 (OMIM# 222300; ORPHAcode 3463) is an extremely rare autosomal recessive syndrome with a 25% recurrence risk in children. It is characterized by the presence of juvenile-onset diabetes mellitus (DM),
Externí odkaz:
https://doaj.org/article/921f024fa94f4d378d2e27e8a33154b8
Autor:
Sebastian Romeo Pintilie, Adriana Fodor, Marius Bembea, Codruta Diana Petchesi, Simona Grad, Laura Damian, Romana Vulturar
Publikováno v:
Romanian Journal of Pediatrics, Vol 70, Iss 3, Pp 186-191 (2022)
AGAT deficiency is a rare and treatable autosomal recessive disorder. The symptoms are early-onset developmental mild to moderate intellectual disability, delayed speech acquisition, behavioral problems or proximal muscle weakness. Biochemical screen
Externí odkaz:
https://doaj.org/article/6c3de8426d4b4452bce4c15a3962280b
Publikováno v:
Romanian Journal of Pediatrics, Vol 70, Iss 3, Pp 169-172 (2021)
Type I neurofibromatosis is one of the most common monogenic disorders, being caused by abnormalities of the neurofibromin gene on chromosome 17. About half of the cases are inherited, respecting the autosomal dominant inheritance criteria, the rest
Externí odkaz:
https://doaj.org/article/9f85a657de694bd0bc79ca8a15166844
Autor:
Codruța Diana Petchesi, Gabriela Ciavoi, Florentina Feier, Oana Alexandra Iuhas, Kinga Kozma, Claudia Jurca, Marius Bembea
Publikováno v:
Romanian Journal of Pediatrics, Vol 70, Iss 2, Pp 135-140 (2021)
Introduction. Down syndrome is the most common chromosomal disorder, with a worldwide frequency of 1 case in 700 live births. Objectives. Starting from the hypothesis that with the increased life expectancy of the patients with Down syndrome, new ph
Externí odkaz:
https://doaj.org/article/d434c96b0c324044a6a871c807c517ce
Autor:
Emilia Elena Babeș, Diana Anca Lucuța, Codruța Diana Petcheși, Andreea Atena Zaha, Cristian Ilyes, Alexandru Daniel Jurca, Cosmin Mihai Vesa, Dana Carmen Zaha, Vlad Victor Babeș
Publikováno v:
Medicina, Vol 57, Iss 2, p 158 (2021)
Background and Objectives: Characterization of patients with endocarditis regarding demographic, clinical, biological and imagistic data, blood culture results and possible correlation between different etiologic factors and host status characteristi
Externí odkaz:
https://doaj.org/article/4832f39bd46245f498a65afa50c2194f
Autor:
Maria Claudia, Jurcă, Oana Alexandra, Iuhas, Maria, Puiu, Adela, Chiriţă-Emandi, Nicoleta Ioana, Andreescu, Codruţa Diana, Petcheşi, Alexandru Daniel, Jurcă, Ioan, Magyar, Sânziana Iulia, Jurcă, Kinga, Kozma, Emilia Maria, Severin, Marius, Bembea
Publikováno v:
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie. 62(2)
Cardiofaciocutaneous (CFC) syndrome [Online Mendelian Inheritance in Man (OMIM) #115150] is characterized by craniofacial dysmorphism, heart malformation, ectodermal abnormalities, neuromotor delay and intellectual disability. It is not a frequent di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f77c8346cb2b152c0ead80cb2cc7bb0a
https://pubmed.ncbi.nlm.nih.gov/35024745
https://pubmed.ncbi.nlm.nih.gov/35024745
Autor:
Aurora Alexandra Jurcă, Marius Evelin Ivaşcu, Cristina Crenguţa Albu, Alexandru Daniel Jurcă, Ioan Magyar, Codruţa Diana Petcheşi, Marius Bembea, Maria Claudia Jurcă, Kinga Kozma, Mircea Sandor, Carmen Pantis, Dana Carmen Zaha
Publikováno v:
Romanian Journal of Morphology and Embryology
When we discuss the genetics of tumors, we cannot fail to remember that in the second decade of the twentieth century, more precisely in 1914, Theodore Boveri defined for the first time the chromosomal bases of cancer. In the last 30 years, progresse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5d16e75a9ed21998239f33e9d6d83f8
https://pubmed.ncbi.nlm.nih.gov/34171053
https://pubmed.ncbi.nlm.nih.gov/34171053
Autor:
Maria Claudia, Jurcă, Marius, Bembea, Oana Alexandra, Iuhas, Kinga, Kozma, Codruţa Diana, Petcheşi, Alexandru Daniel, Jurcă, Ariana, Szilágyi, Diana Luminiţa, Dubău, Cristian Nicolae, Sava, Dana Carmen, Zaha, Emilia Albiniţa, Cuc
Publikováno v:
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie. 59(3)
The co-occurrence in the same individual of two numerical chromosomal abnormalities (double aneuploidy) is a very rare condition, especially for autosomes. Clinical presentations are variable depending on the predominating aneuploidy. The authors pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f8667758be85e787d2b2043e0eba57e2
https://pubmed.ncbi.nlm.nih.gov/30534844
https://pubmed.ncbi.nlm.nih.gov/30534844
Autor:
Maria Claudia, Jurcă, Marius, Bembea, Kinga, Kozma, Mircea Ioan, Şandor, Rodica Anamaria, Negrean, Luciana, Dobjanschi, Emilia Albiniţa, Cuc, Codruţa Diana, Petcheşi, Alexandru Daniel, Jurcă
Publikováno v:
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie. 59(1)
Empty sella means the absence of the pituitary gland on cranial computed tomography or magnetic resonance imaging. Empty sella syndrome is the pathological variant of the imaging-described empty sella. We present the case of a male Caucasian child, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8ad3a378a062a1e1904b232a287ff686
https://pubmed.ncbi.nlm.nih.gov/29940653
https://pubmed.ncbi.nlm.nih.gov/29940653
Autor:
Alexandru Daniel, Jurcă, Kinga, Kozma, Mihai, Ioana, Ioana, Streaţă, Codruţa Diana, Petcheşi, Marius, Bembea, Maria Claudia, Jurcă, Emilia Albiniţa, Cuc, Cosmin Mihai, Vesa, Camelia Liana, Buhaş
Publikováno v:
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie. 58(4)
Jacobsen syndrome (JS) is a contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The syndrome is rare and there are very few observations regarding the pubertal period of the affected individuals. We report the case o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2c2b926fa07a12d91cd195a19fb83197
https://pubmed.ncbi.nlm.nih.gov/29556653
https://pubmed.ncbi.nlm.nih.gov/29556653