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6 results on '"Avela, Kristina"'

1. Mowat-Wilson syndrome: growth charts

Author

Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi, Patrizia, Adam, Margaret P., Avela, Kristina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocco, Isabella, Cordelli, Duccio Maria, Cuturilo, Goran, Di Pisa, Veronica, Dupont Garcia, Juliette, Gastaldi, Roberto, Giordano, Lucio, Guala, Andrea, Hoei-Hansen, Christina, Inaba, Mie, Iodice, Alessandro, Nielsen, Jens Erik Klint, Kuburovic, Vladimir, Lazalde-Medina, Brissia, Malbora, Baris, Mizuno, Seiji, Moldovan, Oana, Møller, Rikke S., Muschke, Petra, Otelli, Valeria, Pantaleoni, Chiara, Piscopo, Carmelo, Poch-Olive, Maria Luisa, Prpic, Igor, Marín Reina, Purificación, Raviglione, Federico, Ricci, Emilia, Scarano, Emanuela, Simonte, Graziella, Smigiel, Robert, Tanteles, George, Tarani, Luigi, Trimouille, Aurelien, Valera, Elvis Terci, Schrier Vergano, Samantha, Writzl, Karin, Callewaert, Bert, Savasta, Salvatore, Street, Maria Elisabeth, Iughetti, Lorenzo, Bernasconi, Sergio, Giorgi Rossi, Paolo, and Garavelli, Livia

Published
2020
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2. Additional file 1 of Mowat-Wilson syndrome: growth charts

Author

Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi, Patrizia, Adam, Margaret P., Avela, Kristina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocco, Isabella, Cordelli, Duccio Maria, Cuturilo, Goran, Pisa, Veronica Di, Garcia, Juliette Dupont, Gastaldi, Roberto, Giordano, Lucio, Guala, Andrea, Hoei-Hansen, Christina, Inaba, Mie, Iodice, Alessandro, Nielsen, Jens Erik Klint, Kuburovic, Vladimir, Brissia Lazalde-Medina, Baris Malbora, Mizuno, Seiji, Moldovan, Oana, Møller, Rikke S., Muschke, Petra, Otelli, Valeria, Pantaleoni, Chiara, Piscopo, Carmelo, Poch-Olive, Maria Luisa, Prpic, Igor, Reina, Purificación Marín, Raviglione, Federico, Ricci, Emilia, Scarano, Emanuela, Simonte, Graziella, Smigiel, Robert, Tanteles, George, Tarani, Luigi, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Writzl, Karin, Callewaert, Bert, Savasta, Salvatore, Street, Maria Elisabeth, Iughetti, Lorenzo, Bernasconi, Sergio, Rossi, Paolo Giorgi, and Garavelli, Livia

Abstract

Additional file 1: Table S1. Number of measurements for male and female patients for height, weight and head circumference in relation to the age groups.

Published
2020
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3. Mowat-Wilson Syndrome: Growth Charts

Author

Ivanovski, Ivan, primary, Djuric, Olivera, additional, Broccoli, Serena, additional, Caraffi, Stefano Giuseppe, additional, Patrizia, Accorsi, additional, Adam, Margaret P, additional, Avela, Kristina, additional, Badura-Stronka, Magdalena, additional, Bayat, Allan, additional, Clayton-Smith, Jill, additional, Cocco, Isabella, additional, Cordelli, Duccio Maria, additional, Cuturilo, Goran, additional, Pisa, Veronica Di, additional, Garcia, Juliette Dupont, additional, Gastaldi, Roberto, additional, Giordano, Lucio, additional, Guala, Andrea, additional, Hoei-Hansen, Christina, additional, Inaba, Mie, additional, Iodice, Alessandro, additional, Nielsen, Jens Erik Klint, additional, Kuburovic, Vladimir, additional, Lazalde-Medina, Brissia, additional, Malbora, Baris, additional, Mizuno, Seiji, additional, Moldovan, Oana, additional, Møller, Rikke S, additional, Muschke, Petra, additional, Otelli, Valeria, additional, Pantaleoni, Chiara, additional, Piscopo, Carmelo, additional, Poch-Olive, Maria Luisa, additional, Prpic, Igor, additional, Purificacion, Marin Reina, additional, Raviglione, Federico, additional, Ricci, Emilia, additional, Scarano, Emanuela, additional, Simonte, Graziella, additional, Smigiel, Robert, additional, Tanteles, George, additional, Tarani, Luigi, additional, Trimouille, Aurelien, additional, Valera, Elvis Terci, additional, Vergano, Samantha Schrier, additional, Writzl, Karin, additional, Callewaert, Bert, additional, Savasta, Salvatore, additional, Street, Maria Elisabeth, additional, Iughetti, Lorenzo, additional, Bernasconi, Sergio, additional, Rossi, Paolo Giorgi, additional, and Garavelli, Livia, additional

Published
2020
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4. Comprehensive copy number and gene expression profiling of the 17q23 amplicon in human breast...

Author

Monni, Outi, Barlund, Maarit, Mousses, Spyro, Kononen, Juha, Sauter, Guido, Heiskanen, Mervi, Paavola, Paulina, Avela, Kristina, Chen, Yidong, Bittner, Michael L., and Kallioniemi, Anne

Subjects
GENETICS of breast cancer, MOLECULAR cloning
Abstract

Identifies target genes for 17q23, a common region of amplification in breast cancer. Use of a combination of molecular, genomic and microarray technologies in the study; Physical and transcript mapping; Molecular cloning of the amplified region at 17q23; Copy number analysis in breast cancer cell lines and primary breast tumors.

Published
2001
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5. The calcium-dependent nitric oxide production of a human...

Author

Orpana, Arto K. and Avela, Kristina

Subjects
NITRIC oxide, PREECLAMPSIA, RISK factors of preeclampsia, PHYSIOLOGY
Abstract

Examines whether the calcium-dependent nitric oxide production capacity of the human umbillical vein endothelial cells is affected by preeclampsia. Explanation of endothelial cell dysfunction; Information on nitric oxide; Measurement of nitric oxide production.

Published
1996
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6. High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results.

Author

Siggberg L, Ala-Mello S, Linnankivi T, Avela K, Scheinin I, Kristiansson K, Lahermo P, Hietala M, Metsähonkala L, Kuusinen E, Laaksonen M, Saarela J, and Khuutila S

Subjects
DNA Copy Number Variations, Homozygote, Humans, Microsatellite Repeats, Uniparental Disomy, Comparative Genomic Hybridization, Developmental Disabilities genetics, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide
Abstract

Background: Diagnostic analysis of patients with developmental disorders has improved over recent years largely due to the use of microarray technology. Array methods that facilitate copy number analysis have enabled the diagnosis of up to 20% more patients with previously normal karyotyping results. A substantial number of patients remain undiagnosed, however., Methods and Results: Using the Genome-Wide Human SNP array 6.0, we analyzed 35 patients with a developmental disorder of unknown cause and normal array comparative genomic hybridization (array CGH) results, in order to characterize previously undefined genomic aberrations. We detected no seemingly pathogenic copy number aberrations. Most of the vast amount of data produced by the array was polymorphic and non-informative. Filtering of this data, based on copy number variant (CNV) population frequencies as well as phenotypically relevant genes, enabled pinpointing regions of allelic homozygosity that included candidate genes correlating to the phenotypic features in four patients, but results could not be confirmed., Conclusions: In this study, the use of an ultra high-resolution SNP array did not contribute to further diagnose patients with developmental disorders of unknown cause. The statistical power of these results is limited by the small size of the patient cohort, and interpretation of these negative results can only be applied to the patients studied here. We present the results of our study and the recurrence of clustered allelic homozygosity present in this material, as detected by the SNP 6.0 array.

Published
2012
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