Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Monica, Pânzaru"'
Autor:
Eusebiu Vlad Gorduza, Violeta Martiniuc, Luminiţa Păduraru, Irina Resmeriţă, Monica Pânzaru, Oana Păvăloaia, Iolanda Augustin
Publikováno v:
Archive of Clinical Cases. :16-22
Campomelic dysplasia (CD) is a very rare, sporadic, autosomal dominant syndrome. CD is characterized by an association of skeletal (bowed long bones, pelvis and chest abnormalities, eleven rib pairs) and extraskeletal abnormalities (facial dysmorphis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a5ee814ba614c6990ad3edae8ee9f649
https://doi.org/10.22551/2017.14.0401.10088
https://doi.org/10.22551/2017.14.0401.10088
Autor:
Eusebiu Vlad Gorduza, Lavinia Caba, Iuliu Ivanov, C Bujoran, Elena Graur, Elena Braha, Monica Pânzaru, Cristina Rusu, Mihaela Gramescu, Roxana Popescu, Lăcrămioara Butnariu, Adriana Sireteanu
Publikováno v:
Romanian Journal of Laboratory Medicine, Vol 22, Iss 2, Pp 157-164 (2014)
Dizabilitatea intelectuală (DI) este o afecțiune frecventă, cu consecințe majore pentru individ, familie și societate. Datorită heterogenității sale clinice și genetice, în aproximativ 50% din cazuri etiologia bolii nu poate fi stabilită.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::753c0f21216d3229c8d6bd607f7bc9bd
https://doaj.org/article/2920e16aae1c457385ebdd117f4a7b14
https://doaj.org/article/2920e16aae1c457385ebdd117f4a7b14
Autor:
Lăcrămioara Butnariu, Mihaela Gramescu, Cristina Rusu, G. Gug, Adriana Sireteanu, Roxana Popescu, D. Ochiană, M Covic, Elena Braha, Lavinia Caba, Eusebiu Vlad Gorduza, Monica Pânzaru, V. Plăiaşu, C Bujoran, M Voloşciuc
Publikováno v:
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 15, Iss 2, Pp 35-46 (2012)
Balkan Journal of Medical Genetics, Vol 15, Iss 2, Pp 35-46 (2012)
Ring chromosomes are rare entities, usually associated with phenotypic abnormalities in correlation with the loss of genetic material. There are various breakpoints and sometimes there is a dynamic mosaicism that is reflected in clinical features. Mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::236a6bcade1817c685f05c5de41507b7
https://doi.org/10.2478/bjmg-2013-0005
https://doi.org/10.2478/bjmg-2013-0005
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:
Lăcrămioara Butnariu, Doina Mihăilă, Cristina Rusu, Elena Braha, Adriana Sireteanu, Roxana Popescu, Monica Pânzaru
Publikováno v:
Romanian Journal of Laboratory Medicine, Vol 22, Iss 4, Pp 419-426 (2014)
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked progressive muscle disorders determined by mutations of the dystrophin (DMD) gene. Multiplex Ligation - Dependent Probe Amplification (MLPA) is a simple, inexpensive and reliable test fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a78b7bd06a45e75d95ecbd30aa94649
https://doi.org/10.2478/rrlm-2014-0038
https://doi.org/10.2478/rrlm-2014-0038
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
Publikováno v:
SEA: Practical Application of Science. May2022, Vol. 10 Issue 28, p33-36. 4p.
Autor:
Khan, Sheraz, Focșa, Ina Ofelia, Budișteanu, Magdalena, Stoica, Cristina, Nedelea, Florina, Bohîlțea, Laurențiu, Caba, Lavinia, Butnariu, Lăcrămioara, Pânzaru, Monica, Rusu, Cristina, Jurcă, Claudia, Chirita‐Emandi, Adela, Bănescu, Claudia, Abbas, Wasim, Sadeghpour, Azita, Baig, Shahid Mahmood, Bălgrădean, Mihaela, Davis, Erica E.
Publikováno v:
American Journal of Medical Genetics. Part A; Sep2023, Vol. 191 Issue 9, p2376-2391, 16p
Autor:
Butnariu, Lăcrămioara Ionela1, Rusu, Cristina1, Pânzaru, Monica1, Caba, Lavinia1, Popescu, Roxana1, Gorduza, Eusebiu Vlad1
Publikováno v:
Romanian Journal of Functional & Clinical, Macro & Microscopical Anatomy & of Anthropology / Revista Româna de Anatomie Functionala si Clinica, Macro si Microscopica si de Antropologie. 2017, Vol. 16 Issue 2, p163-167. 5p.
Autor:
Păvăloaia, Oana1, Resmeriţă, Irina1 irina.resmerita@gmail.com, Augustin, Iolanda2, Pânzaru, Monica2, Martiniuc, Violeta1, Păduraru, Luminiţa3, Gorduza, Eusebiu Vlad1,2
Publikováno v:
Archive of Clinical Cases. 2017, Vol. 4 Issue 1, p16-22. 7p.