Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Mihaela Grămescu"'
Autor:
Roxana Popescu, Mihaela Grămescu, Lavinia Caba, Monica-Cristina Pânzaru, Lăcrămioara Butnariu, Elena Braha, Setalia Popa, Cristina Rusu, Georgeta Cardos, Monica Zeleniuc, Violeta Martiniuc, Cristina Gug, Luminiţa Păduraru, Maria Stamatin, Carmen C. Diaconu, Eusebiu Vlad Gorduza
Publikováno v:
Genes, Vol 12, Iss 1957, p 1957 (2021)
Genes
Genes
We present a complex chromosomal anomaly identified using cytogenetic and molecular methods. The child was diagnosed during the neonatal period with a multiple congenital anomalies syndrome characterized by: flattened occipital region; slight turrice
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42a9e67d95bacf6e8c60619b2b2a4201
https://www.mdpi.com/2073-4425/12/12/1957
https://www.mdpi.com/2073-4425/12/12/1957
Autor:
Lăcrămioara, Butnariu, Cristina, Rusu, Lavinia, Caba, Monica, Pânzaru, Elena, Braha, Mihaela, Grămescu, Roxana, Popescu, C, Bujoranu, E V, Gorduza
Publikováno v:
Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi. 117(3)
Trisomy X (47,XXX) is a gonosomal aneuploidy characterized by the presence of an extra X chromosome in a female person. Usually the diagnosis is established made postnatally by chromosome analysis in patients with suggestive clinical signs. Clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a5e8acf4411a03ec7ae2f7bc07b782ad
https://pubmed.ncbi.nlm.nih.gov/24502039
https://pubmed.ncbi.nlm.nih.gov/24502039
Autor:
Monica, Pânzaru, Cristina, Rusu, M, Voloşciuc, Elena, Braha, Lăcrămioara, Butnariu, I, Ivanov, Mihaela, Grămescu, Roxana, Popescu, Lavinia, Caba, Adriana, Sireteanu, M, Macovei, M, Covic, E V, Gorduza
Publikováno v:
Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi. 115(3)
Velo-Cardio-Facial Syndrome (VCFS) is characterized by congenital heart defects (CHD), palatal abnormalities, facial dysmorphism, neonatal hypocalcemia, immune deficit, speech and learning disabilities. SVCF is caused by microdeletion 22q11.2. Microd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bf77c926008d296f55274af949008b77
https://pubmed.ncbi.nlm.nih.gov/22046783
https://pubmed.ncbi.nlm.nih.gov/22046783
Autor:
Lăcrămioara, Butnariu, M, Covic, M, Onofriescu, Mihaela, Grămescu, C, Bujoran, Lavinia, Caba, E V, Gorduza
Publikováno v:
Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi. 114(4)
Reproductive Disorders (RD), manifested by the biological inability to conceive (primary sterility) or inability to carry a pregnancy to full-term (infertility), affect 10-15% of reproductive-aged couples. The genetic etiology of RD is represented, i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fd2e574f8c5d84d7f99cf2810a2f8709
https://pubmed.ncbi.nlm.nih.gov/21500467
https://pubmed.ncbi.nlm.nih.gov/21500467
Autor:
Cristina, Rusu, Elena, Neagu, Cristina, Skrypnyk, Vasilica, Bica, M, Voloşciuc, M, Bembea, Adriana, Sireteanu, Mihaela, Grămescu, Barbarii, Ligia
Publikováno v:
Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi. 113(2)
Genetic causes of mental retardation (MR) are heterogeneous, but subtelomeric rearrangements are an important one. MLPA technique provides the best results in case detection. We have used MLPA to identify subtelomeric rearrangements in children with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c08f9649f1bce973cbf8a90f4e1196f3
https://pubmed.ncbi.nlm.nih.gov/21495359
https://pubmed.ncbi.nlm.nih.gov/21495359
Autor:
Lavinia, Caba, Cristina, Rusu, M, Voloşciuc, Lăcrămioara, Butnariu, Elena, Braha, Mihaela, Grămescu, C, Bujoran, E V, Gorduza, M, Covic
Publikováno v:
Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi. 113(2)
We present a retrospective study aimed to identify the correlation between de Vries clinical score and the detection of chromosomal abnormalities in mentally retarded (MR) children. We have used the score to identify patients who should be tested by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7b16f80ba699d8be8bbf3f4c4f9e7bbb
https://pubmed.ncbi.nlm.nih.gov/21495360
https://pubmed.ncbi.nlm.nih.gov/21495360
Autor:
Eva-Cristiana Gavril, Alina Costina Luca, Alexandrina-Stefania Curpan, Roxana Popescu, Irina Resmerita, Monica Cristina Panzaru, Lacramioara Ionela Butnariu, Eusebiu Vlad Gorduza, Mihaela Gramescu, Cristina Rusu
Publikováno v:
Children, Vol 8, Iss 9, p 751 (2021)
Wolf–Hirschhorn syndrome (WHS), a rare disorder determined by distal 4p deletion, is characterized by a pre and postnatal growth retardation, hypotonia, intellectual disability, epilepsy, craniofacial dysmorphism, and congenital fusion anomalies. T
Externí odkaz:
https://doaj.org/article/0ba04f2e8a2647d3b76fd9a44eb131ec