Výsledky vyhledávání - "Monica, Pânzaru"

Campomelic dysplasia with dextrocardia and without sex-reversal

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

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Detection of chromosomal imbalances using combined MLPA kits in patients with syndromic intellectual disability

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

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Ring Autosomes: Some Unexpected Findings

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)

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

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Genotype- phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature

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

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Identification of Exonic Copy Number Variations in Dystrophin Gene Using Mlpa / Identificarea Variaţiilor Numărului de Copii în Gena Distrofinei Folosind Metoda Mlpa

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

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[Improvement of genetic diagnostic strategy in velo-cardio-facial syndrome]

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

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