Search Results - "Shelby, Elena Silvia"

Evaluation of prognostic significance of hematological profiles after the intensive phase treatment in pulmonary tuberculosis patients from Romania by Ştefanescu, Simona, Cocoş, Relu, Turcu-Stiolica, Adina, Mahler, Beatrice, Meca, Andreea-Daniela, Giura, Ana Maria Cristina, Bogdan, Maria, Shelby, Elena-Silvia, Zamfirescu, Georgeta, Pisoschi, Catalina-Gabriela

“…We evaluated in this cohort study the predictive ability of 23 peripheral blood parameters and ratios for treatment outcomes after the 2-month intensive phase…”
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Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I by Mirea, Andrada, Shelby, Elena-Silvia, Axente, Mihaela, Badina, Mihaela, Padure, Liliana, Leanca, Madalina, Dima, Vlad, Sporea, Corina

“…Background: Spinal muscular atrophy (SMA) is a neuromuscular progressive disease, characterized by decreased amounts of survival motor neuron (SMN) protein,…”
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Risk of Death in Comorbidity Subgroups of Hospitalized COVID-19 Patients Inferred by Routine Laboratory Markers of Systemic Inflammation on Admission: A Retrospective Study by Cocoş, Relu, Mahler, Beatrice, Turcu-Stiolica, Adina, Stoichiță, Alexandru, Ghinet, Andreea, Shelby, Elena-Silvia, Bohîlțea, Laurențiu Camil

“…Our study objective was to construct models using 20 routine laboratory parameters on admission to predict disease severity and mortality risk in a group of…”
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INNOVATIVE THERAPIES IN GENETIC DISEASES: SPINAL MUSCULAR ATROPHY by Shelby, Elena-Silvia, Mirea, Andrada

“…Spinal muscular atrophy is a congenital neuromuscular disease characterized by the deterioration of the motor neurons located mainly in the anterior horns of…”
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Physical Therapy and Nusinersen Impact on Spinal Muscular Atrophy Rehabilitative Outcome by Mirea, Andrada, Leanca, Madalina Cristina, Onose, Gelu, Sporea, Corina, Padure, Liliana, Shelby, Elena-Silvia, Dima, Vlad, Daia, Cristina

“…INTRODUCTIONSpinal muscular atrophy (SMA) is a progressive neurological disease with autosomal recessive transmission that affects motor neurons, causing their…”
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Changes in pNFH Levels in Cerebrospinal Fluid and Motor Evolution after the Loading Dose with Nusinersen in Different Types of Spinal Muscular Atrophy by Badina, Mihaela, Bejan, Gabriel Cristian, Sporea, Corina, Padure, Liliana, Mirea, Andrada, Leanca, Madalina-Cristina, Axente, Mihaela, Grigoras, Florin Petru, Bejan, Mihaela, Shelby, Elena-Silvia, Neagu, Elena, Ion, Daniela Adriana

“…The objective of our retrospective study was to investigate the changes in pNFH levels in cerebrospinal fluid, which is a reliable marker of neuronal damage,…”
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Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature by Shelby, Elena-Silvia, Morris, Michael, Pădure, Liliana, Mirea, Andrada, Cocoș, Relu, Cărămizaru, Alexandru, Șerban-Sosoi, Simona, Pîrvu, Andrei, Streață, Ioana

“…19q13 microdeletion syndrome is a very rare genetic disease characterized by pre- and postnatal growth retardation, intellectual disability, expressive…”
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Prediction of Treatment Outcome with Inflammatory Biomarkers after 2 Months of Therapy in Pulmonary Tuberculosis Patients: Preliminary Results by Stefanescu, Simona, Cocoș, Relu, Turcu-Stiolica, Adina, Shelby, Elena-Silvia, Matei, Marius, Subtirelu, Mihaela-Simona, Meca, Andreea-Daniela, Stanciulescu, Elena Camelia, Popescu, Stefana Oana, Biciusca, Viorel, Pisoschi, Catalina-Gabriela

“…Pro-inflammatory mediators play an important role in the pathogenesis of pulmonary tuberculosis. Consecutively, 26 pulmonary tuberculosis patients were…”
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Innovative therapies in genetic diseases: Cystic fibrosis by Shelby, Elena-Silvia, Nedelea, Florina Mihaela, Huseyinoglu, Tanser, Cocos, Relu, Badina, Mihaela, Sporea, Corina, Padure, Liliana, Mirea, Andrada

“…Cystic fibrosis, also named mucoviscidosis, is the most frequent hereditary pulmonary disease and is produced by mutations in the CFTR gene, encoding an…”
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Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability-Data from a Romanian Cohort by Streață, Ioana, Caramizaru, Alexandru, Riza, Anca-Lelia, Șerban-Sosoi, Simona, Pîrvu, Andrei, Cara, Monica-Laura, Cucu, Mihai-Gabriel, Dobrescu, Amelia Mihaela, Ro-Nmca-Id Group, CExBR Pediatric Neurology Obregia Group, CExBR Pediatric Neurology V Gomoiu Hospital Group, Shelby, Elena-Silvia, Albeanu, Adriana, Burada, Florin, Ioana, Mihai

“…The investigation of unexplained global developmental delay (GDD)/intellectual disability (ID) is challenging. In low resource settings, patients may not…”
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1q44 microdeletion syndrome: A new case with potential additional features by SHELBY, Elena-Silvia, HUSEYINOGLU, Tanser, CARDOS, Georgeta, PADURE, Liliana, MIREA, Andrada, LEANCA, Madalina, BADINA, Mihaela, BARLADEANU, Nadejda, NEDELEA, Florina Mihaela

“…1q44 microdeletion syndrome (1q44 monosomy) is a newly described genetic syndrome characterized by the haploinsufficiency of a 6 Mb locus on the long arm of…”
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Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency by Axente, Mihaela, Shelby, Elena-Silvia, Mirea, Andrada, Sporea, Corina, Badina, Mihaela, Padure, Liliana, Ion, Daniela Adriana

“…Spinal muscular atrophy (SMA) is a spectrum of genetically and clinically heterogeneous diseases leading to the progressive degeneration of peripheric motor…”
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Phenotypic manifestations of C5orf42 pathogenic variants by Shelby, Elena-Silvia, Cocos, Relu, Leanca, Madalina Cristina, Mirea, Andrada, Barca, Diana

“…Joubert syndrome is a genetic disease with an autosomal-recessive or X-linked inheritance pattern caused by pathogenic variants in at least 35 genes, all…”
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Clinical and genetic aspects in the Ehlers Danlos syndrome by Shelby, Elena Silvia, Leanca, Madalina Cristina, Hamei, Serban, Padure, Liliana, Mirea, Andrada

“…Introduction. Ehlers Danlos syndrome is a group of hereditary diseases of the connective tissue with a combined prevalence of 1 in 5,000 cases which have in…”
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Terapii inovative în bolile genetice: Fibroza chistică by Shelby, Elena-Silvia, Nedelea, Florina Mihaela, Huseyinoglu, Tanser, Cocoș, Relu, Bădina, Mihaela, Sporea, Corina, Pădure, Liliana, Mirea, Andrada

“…Fibroza chistică, numită și mucoviscidoză, este cea mai frecventă boală pulmonară ereditară și este produsă de mutații în gena CFTR, ce codifică un canal…”
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OP-105 Early detection for improved outcomes in spinal muscular atrophy by Mirea, Andrada, Leanca, Madalina Cristina, Vasile, Daniela Dorina, Dima, Vlad, Shelby, Elena Silvia, Neagu, Elena

“…AimSpinal Muscular Atrophy (SMA) is a rare genetic disorder that causes muscle weakness and atrophy due to the impact on motor neurons in the spinal cord. It…”
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Aspecte clinice şi genetice în cadrul sindromului Ehlers Danlos by Shelby, Elena Silvia, Leanca, Mădălina Cristina, Hamei, Șerban, Pădure, Liliana, Mirea, Andrada

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Aspecte clinice şi genetice în cadrul sindromului Ehlers Danlos by Elena Silvia Shelby, Mădălina Cristina Leanca, Șerban Hamei, Liliana Pădure

“…Introducere. Sindromul Ehlers Danlos reprezintă un grup de boli ereditare ale țesutului conjunctiv, cu o prevalență combinată de 1 la 5.000 de cazuri ce au în…”
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New VOUS in by SHELBY, Elena Silvia, LUPU, Onda Tabita, AXENTE, Mihaela, LEANCA, Madalina Cristina, BADINA, Mihaela, PADURE, Liliana, MIREA, Andrada, PELTTARI, Liisa M.

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New VOUS in by SHELBY, Elena Silvia, LUPU, Onda Tabita, AXENTE, Mihaela, LEANCA, Madalina Cristina, BADINA, Mihaela, PADURE, Liliana, MIREA, Andrada, PELTTARI, Liisa M.

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