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515 results on '"Petersen, Michael B."'

1. Failures of the Russian Aerospace Forces in Ukraine

Author

Galamison, Matthew S. and Petersen, Michael B.

Subjects
North Atlantic Treaty Organization, Market trend/market analysis, SU-24 (Aircraft) -- Military aspects, Rockets (Ordnance) -- Military aspects -- Forecasts and trends, Electromagnetic waves -- Military aspects -- Forecasts and trends, Electromagnetic radiation -- Military aspects -- Forecasts and trends, Guided missiles -- Military aspects -- Forecasts and trends, Air defenses -- Forecasts and trends -- Military aspects, Air power -- Forecasts and trends -- Military aspects, Antiairborne warfare -- Forecasts and trends -- Military aspects, Electric waves -- Military aspects -- Forecasts and trends, United States. Air Force, Russian Invasion of Ukraine, 2022- -- Military aspects
Abstract

Russian thinking on Russian aerospace forces' capabilities prior to the invasion of Ukraine reveals the force faced interconnected and unresolved challenges, including a mistaken strategic priority on defensive over offensive operations, a failure to develop sufficient capacity and capability for large-scale operations, and comparatively undeveloped operational concepts. As European NATO partners modernize their forces in the coming years, these critical shortfalls provide lessons related to acquiring specific technologies and platforms, engaging relevant operational concepts, and committing to extensive, ongoing training., Since the start of Russia's invasion of Ukraine in February 2022, one of the enduring questions of the conflict has been why Russian airpower has failed to establish air superiority [...]

Published
2023

5. Putins People: How the KGB Took Back Russia and Then Took On the West

Author

Petersen, Michael B.

Subjects
International relations, Military and naval science
Abstract

Putins People: How the KGB Took Back Russia and Then Took On the West, by Catherine Belton. New York: Farrar, Straus, Giroux, 2020. 640 pages. $35. Catherine Belton's Putin's People [...]

Published
2021

6. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Author

Kaiser, Frank J, Ansari, Morad, Braunholz, Diana, Concepción Gil-Rodríguez, María, Decroos, Christophe, Wilde, Jonathan J, Fincher, Christopher T, Kaur, Maninder, Bando, Masashige, Amor, David J, Atwal, Paldeep S, Bahlo, Melanie, Bowman, Christine M, Bradley, Jacquelyn J, Brunner, Han G, Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A, Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C, Francey, Lauren J, Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D, Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M, Yntema, Helger, Innes, A Micheil, Kline, Antonie D, Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B, Mannini, Linda, McKee, Shane, Mehta, Sarju G, Micule, Ieva, Care4Rare Canada Consortium, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R, Moser, Joe-Ann S, Noon, Sarah E, Nozaki, Naohito, Nunes, Luis, Pappas, John G, Penney, Lynette S, Pérez-Aytés, Antonio, Petersen, Michael B, Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E, Schindeler, Karen L, Siu, Victoria M, Stark, Zornitza, Strom, Samuel P, Thiese, Heidi, Vater, Inga, Willems, Patrick, Williamson, Kathleen, Wilson, Louise C, University of Washington Center for Mendelian Genomics, Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J, Jackson, Laird G, Shirahige, Katsuhiko, Pié, Juan, Christianson, David W, Krantz, Ian D, Fitzpatrick, David R, and Deardorff, Matthew A

Subjects
Care4Rare Canada Consortium, University of Washington Center for Mendelian Genomics, Humans, Hypertelorism, De Lange Syndrome, Eye Abnormalities, Histone Deacetylases, Repressor Proteins, Cohort Studies, Sequence Alignment, Amino Acid Sequence, Phenotype, Mutation, Missense, Molecular Sequence Data, Child, Child, Preschool, Infant, Female, Male, Genes, X-Linked, Cranial Fontanelles, Genetics, Rare Diseases, Dental/Oral and Craniofacial Disease, Intellectual and Developmental Disabilities (IDD), Pediatric, Brain Disorders, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Aetiology, Congenital, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for ∼5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA. We also identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS.

Published
2014

7. Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature

Author

Papoulidis, Ioannis, primary, Eleftheriades, Makarios, additional, Manolakos, Emmanouil, additional, Petersen, Michael B., additional, Liappi, Simoni Marina, additional, Konstantinidou, Anastasia, additional, Papamichail, Maria, additional, Papadopoulos, Vassilios, additional, Garas, Antonios, additional, Sotiriou, Sotirios, additional, Papastefanou, Ioannis, additional, Daskalakis, Georgios, additional, and Ristic, Aleksandar, additional

Published
2022
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15. SLITRK6 mutations cause myopia and deafness in humans and mice

Author

Tekin, Mustafa, Chioza, Barry A., Matsumoto, Yoshifumi, Diaz-Horta, Oscar, Cross, Harold E., Duman, Duygu, Kokotas, Haris, Moore-Barton, Heather L., Sakoori, Kazuto, Ota, Maya, Odaka, Yuri S., Foster, II, Joseph, Cengiz, F. Basak, Tokgoz-Yilmaz, Suna, Tekeli, Oya, Grigoriadou, Maria, Petersen, Michael B., Sreekantan-Nair, Ajith, Gurtz, Kay, Xia, Xia-Juan, Pandya, Arti, Patton, Michael A., Young, Juan I., Aruga, Jun, and Crosby, Andrew H.

Subjects
Gene mutations -- Health aspects, Myopia -- Genetic aspects -- Causes of, Deafness -- Genetic aspects -- Causes of, Health care industry
Abstract

Myopia is by far the most common human eye disorder that is known to have a clear, albeit poorly defined, heritable component. In this study, we describe an autosomal-recessive syndrome [...]

Published
2013
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16. A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis

Author

Højland, Allan Thomas, primary, Tavernier, Lisse J. M., additional, Schrauwen, Isabelle, additional, Sommen, Manou, additional, Topsakal, Vedat, additional, Schatteman, Isabelle, additional, Dhooge, Ingeborg, additional, Huber, Alex, additional, Zanetti, Diego, additional, Kunst, Henricus P. M., additional, Hoischen, Alexander, additional, Petersen, Michael B., additional, Van Camp, Guy, additional, and Fransen, Erik, additional

Published
2021
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18. A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss

Author

Sirmaci, Asli, Erbek, Seyra, Price, Justin, Mingqian Huang, Duman, Duygu, Cengiz, F. Basak, Bademci, Guney, Yilmaz, Suna Tokgoz, Hismi, Burcu, Ozdag, Hilal, Ozturk, Banu, Kulaksizoglu, Sevsen, Yildirim, Erkan, Kokotas, Haris, Grigoriadou, Maria, Petersen, Michael B., Shahin, Hashem, Kanaan, Moien, King, Mary-Claire, Zheng-Yi Chen, Blanton, Susan H., Xue Z. Liu, Zuchner, Stephan, Akar, Nejat, and Tekin, Mustafa

Subjects
Gene mutations -- Analysis, Hearing loss -- Genetic aspects, Hearing loss -- Demographic aspects, Turks -- Genetic aspects, Turks -- Health aspects, Biological sciences
Abstract

A study was conducted to map an unidentified autosomal-recessive nonsyndromic sensorineural hearing loss locus (DFNB91) to chromosome 6p25 in a consanguineous Turkish family. The identified nonsense mutation in SERPINB6 plays an important role in the inner ear in the protection against leakage of lysosomal content during stress and loss of this protection results in cell death and sensorineural hearing loss.

Published
2010

21. Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients

Author

Wattenhofer, Marie, Di Iorio, Mario, Rabionet, Raquel, Dougherty, Loretta, Pampanos, Andreas, Schwede, Torsten, Montserrat-Sentis, Barbara, Arbones, Maria, Iliades, Theofilos, Pasquadibisceglie, Annamaria, D'Amelio, Marcello, Alwan, Sura, Rossier, Colette, Dahl, Hans-Henrik M., Petersen, Michael B., Estivill, Xavier, Gasparini, Paolo, Scott, Hamish S., and Antonarakis, Stylianos E.

Published
2002
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24. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Author

Deardorff, Matthew A., Bando, Masashige, Nakato, Ryuichiro, Watrin, Erwan, Itoh, Takehiko, Minamino, Masashi, Saitoh, Katsuya, Komata, Makiko, Katou, Yuki, Clark, Dinah, Cole, Kathryn E., De Baere, Elfride, Decroos, Christophe, Di Donato, Nataliya, Ernst, Sarah, Francey, Lauren J., Gyftodimou, Yolanda, Hirashima, Kyotaro, Hullings, Melanie, Ishikawa, Yuuichi, Jaulin, Christian, Kaur, Maninder, Kiyono, Tohru, Lombardi, Patrick M., Magnaghi-Jaulin, Laura, Mortier, Geert R., Nozaki, Naohito, Petersen, Michael B., Seimiya, Hiroyuki, Siu, Victoria M., Suzuki, Yutaka, Takagaki, Kentaro, Wilde, Jonathan J., Willems, Patrick J., Prigent, Claude, Gillessen-Kaesbach, Gabriele, Christianson, David W., Kaiser, Frank J., Jackson, Laird G., Hirota, Toru, Krantz, Ian D., and Shirahige, Katsuhiko

Published
2012
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26. Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes

Author

Sarri, Catherine, Douzgou, Sofia, Gyftodimou, Yolanda, Tümer, Zeynep, Ravn, Kirstine, Pasparaki, Angela, Sarafidou, Theologia, Kontos, Harry, Kokotas, Haris, Karadima, Georgia, Grigoriadou, Maria, Pandelia, Effie, Theodorou, Virginia, Moschonas, Nicholas K., and Petersen, Michael B.

Published
2011
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35. Cohen Syndrome Resulting From a Novel Large Intragenic COH1 Deletion Segregating in an Isolated Greek Island Population

Author

Bugiani, Marianna, Gyftodimou, Yolanda, Tsimpouka, Paraskevi, Lamantea, Eleonora, Katzaki, Eleni, dʼAdamo, Pio, Nakou, Sheena, Georgoudi, Nelli, Grigoriadou, Maria, Tsina, Efthymia, Kabolis, Nikolaos, Milani, Donatella, Pandelia, Efthimia, Kokotas, Haris, Gasparini, Paolo, Giannoulia-Karantana, Aglaia, Renieri, Alessandra, Zeviani, Massimo, and Petersen, Michael B.

Published
2008
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39. Non-disjunction of chromosome 13

Author

Bugge, Merete, Collins, Andrew, Hertz, Jens Michael, Eiberg, Hans, Lundsteen, Claes, Brandt, Carsten A., Bak, Mads, Hansen, Claus, deLozier, Celia D., Lespinasse, James, Tranebjaerg, Lisbeth, Hahnemann, Johanne M.D., Rasmussen, Kirsten, Bruun-Petersen, Gert, Duprez, Laurence, Tommerup, Niels, and Petersen, Michael B.

Published
2007

40. A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies

Author

Majava, Marja, Hoornaert, Kristien P., Bartholdi, Deborah, Bouma, Mieke C., Bouman, Katelijne, Carrera, Marta, Devriendt, Koenraad, Hurst, Jane, Kitsos, George, Niedrist, Dunja, Petersen, Michael B., Shears, Debbie, Stolte-Dijkstra, Irene, Van Hagen, J. M., Ala-Kokko, Leena, Männikkö, Minna, and Mortier, Geert R.

Published
2007
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41. Prenatal diagnosis of glycogen storage disease type IV

Author

Akman, Orhan H., Karadimas, Charalampos, Gyftodimou, Yolanda, Grigoriadou, Maria, Kokotas, Haris, Konstantinidou, Anastasia, Anninos, Hector, Patsouris, Efstratios, Thaker, Harshwardhan M., Kaplan, Jeffrey B., Besharat, Isaam, Hatzikonstantinou, Konstantina, Fotopoulos, Spyridon, DiMauro, Salvatore, and Petersen, Michael B.

Published
2006
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44. The spectrum of intermediate SCN8A-related epilepsy

Author

Johannesen, Katrine M., Gardena, Elena, Encinas, Alejandra C., Lehesjoki, Anna-Enna, Linnankivi, Tarja, Petersen, Michael B., Lund, Ida Charlotte Bay, Blichfeldt, Susanne, Miranda, Maria J., Pal, Deb K., Lascelles, Karine, Procopis, Peter, Orsini, Alessandro, Bonuccelli, Alice, Giacomini, Thea, Helbig, Ingo, Fenger, Christina D., Sisodiya, Sanjay M., Hernandez-Hernandez, Laura, Krithika, Sundararaman, Rumple, Melissa, Masnada, Silvia, Valente, Marialuisa, Cereda, Cristina, Giordano, Lucio, Accorsi, Patrizia, Burki, Sarah, Mancardi, Margherita, Korff, Christian, Guerrini, Renzo, von Spiczak, Sarah, Hoffman-Zacharska, Dorota, Mazurczak, Tomasz, Coppola, Antonietta, Buono, Salvatore, Vecchi, Marilena, Hammer, Michael F., Varesio, Costanza, Veggiotti, Pierangelo, Lal, Dennis, Bruenger, Tobias, Zara, Federico, Striano, Pasquale, Rohholi, Guido, Moller, Rikke S., Johannesen, Katrine M., Gardena, Elena, Encinas, Alejandra C., Lehesjoki, Anna-Enna, Linnankivi, Tarja, Petersen, Michael B., Lund, Ida Charlotte Bay, Blichfeldt, Susanne, Miranda, Maria J., Pal, Deb K., Lascelles, Karine, Procopis, Peter, Orsini, Alessandro, Bonuccelli, Alice, Giacomini, Thea, Helbig, Ingo, Fenger, Christina D., Sisodiya, Sanjay M., Hernandez-Hernandez, Laura, Krithika, Sundararaman, Rumple, Melissa, Masnada, Silvia, Valente, Marialuisa, Cereda, Cristina, Giordano, Lucio, Accorsi, Patrizia, Burki, Sarah, Mancardi, Margherita, Korff, Christian, Guerrini, Renzo, von Spiczak, Sarah, Hoffman-Zacharska, Dorota, Mazurczak, Tomasz, Coppola, Antonietta, Buono, Salvatore, Vecchi, Marilena, Hammer, Michael F., Varesio, Costanza, Veggiotti, Pierangelo, Lal, Dennis, Bruenger, Tobias, Zara, Federico, Striano, Pasquale, Rohholi, Guido, and Moller, Rikke S.

Abstract

Objective: Pathogenic variants in SCN8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS) to epileptic encephalopathies with variable severity. Furthermore, a few patients with intellectual disability (ID) or movement disorders without epilepsy have been reported. The vast majority of the published SCN8A patients suffer from severe developmental and epileptic encephalopathy (DEE). In this study, we aimed to provide further insight on the spectrum of milder SCN8A-related epilepsies. Methods: A cohort of 1095 patients were screened using a next generation sequencing panel. Further patients were ascertained from a network of epilepsy genetics clinics. Patients with severe DEE and BFIS were excluded from the study. Results: We found 36 probands who presented with an SCN8A-related epilepsy and normal intellect (33%) or mild (61%) to moderate ID (6%). All patients presented with epilepsy between age 1.5 months and 7 years (mean = 13.6 months), and 58% of these became seizure-free, two-thirds on monotherapy. Neurological disturbances included ataxia (28%) and hypotonia (19%) as the most prominent features. Interictal electroencephalogram was normal in 41%. Several recurrent variants were observed, including Ile763Val, Val891Met, Gly1475Arg, Gly1483Lys, Phe1588Leu, Arg1617Gln, Ala1650Val/Thr, Arg1872Gln, and Asn1877Ser. Significance: With this study, we explore the electroclinical features of an intermediate SCN8A-related epilepsy with mild cognitive impairment, which is for the majority a treatable epilepsy.

Published
2019

45. Partial trisomy 21 map:Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21

Author

Pelleri, Maria Chiara, Cicchini, Elena, Petersen, Michael B., Tranebjærg, Lisbeth, Mattina, Teresa, Magini, Pamela, Antonaros, Francesca, Caracausi, Maria, Vitale, Lorenza, Locatelli, Chiara, Seri, Marco, Strippoli, Pierluigi, Piovesan, Allison, Cocchi, Guido, Pelleri, Maria Chiara, Cicchini, Elena, Petersen, Michael B., Tranebjærg, Lisbeth, Mattina, Teresa, Magini, Pamela, Antonaros, Francesca, Caracausi, Maria, Vitale, Lorenza, Locatelli, Chiara, Seri, Marco, Strippoli, Pierluigi, Piovesan, Allison, and Cocchi, Guido

Abstract

BACKGROUND: Down syndrome (DS) is characterized by the presence of an extra full or partial human chromosome 21 (Hsa21). An invaluable model to define genotype-phenotype correlations in DS is the study of the extremely rare cases of partial (segmental) trisomy 21 (PT21), the duplication of only a delimited region of Hsa21 associated or not to DS. A systematic retrospective reanalysis of 125 PT21 cases described up to 2015 allowed the creation of the most comprehensive PT21 map and the identification of a 34-kb highly restricted DS critical region (HR-DSCR) as the minimal region whose duplication is shared by all PT21 subjects diagnosed with DS. We reanalyzed at higher resolution three cases previously published and we accurately searched for any new PT21 reports in order to verify whether HR-DSCR limits could prospectively be confirmed and possibly refined.METHODS: Hsa21 partial duplications of three PT21 subjects were refined by adding array-based comparative genomic hybridization data. Seven newly described PT21 cases fulfilling stringent cytogenetic and clinical criteria have been incorporated into the PT21 integrated map.RESULTS: The PT21 map now integrates fine structure of Hsa21 sequence intervals of 132 subjects onto a common framework fully consistent with the presence of a duplicated HR-DSCR, on distal 21q22.13 sub-band, only in DS subjects and not in non-DS individuals. No documented exception to the HR-DSCR model was found.CONCLUSIONS: The findings presented here further support the association of the HR-DSCR with the diagnosis of DS, representing an unbiased validation of the original model. Further studies are needed to identify and characterize genetic determinants presumably located in the HR-DSCR and functionally associated to the critical manifestations of DS.

Published
2019

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