4,057 research outputs found
A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics
No full textBackground: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including this region have been described and are associated with complex phenotypes of mental retardation, developmental delay and various others anomalies. Results: We report on a 3-year-old girl with a rare 2.9 Mb interstitial deletion at 13q12.11 due to a de novo unbalanced t(13;14) translocation. She had mild mental retardation and relatively mild dysmorphic features such as microcephaly, flat nasal bridge, moderate micrognathia and clinodactyly of 5th finger. Molecular karyotyping revealed a deletion on the long arm of chromosome 13 as involving sub-bands 13q12.11, a deletion of about 2.9 Mb. Discussion: The clinical application of array-CGH has made it possible to detect submicroscopical genomic rearrangements that are associated with varying phenotypes.The description of more patients with deletions of the 13q12.11 region will allow a more precise genotype-phenotype correlation
Omphalina : newsletter of Foray Newfoundland and Labrador, vol. 05, no. 05 (26 may 2014)
No full textEditor's comments -- Foray matters -- Basic barrens of Gros Morne / Michael Burzynski -- Gymnopus eneficola spec. nov. / Petersen, Hughes, Voitk [ie. Ron Petersen, Karen Hughes, Andrus Voitk] -- Gymnopus dryophilus clades / Hughes, Aldrovandi, Petersen, Voitk [ie. Karen Hughes, Matt Aldrovandi, Ron Petersen, Andrus Voitk] -- The Bishop's sketchbook -- Dryophiles and dryophobes / Voitk, Hughes, Aldrovandi [ie. Andrus Voitk, Karen Hughes, Matt Aldrovandi] -- Gymnopus species in NL / Petersen, Voitk [ie. Ron Petersen, Andrus Voitk] -- Mail basket -- Partners -- Foray notice.Frequency: irregular.Omphalina : newsletter of Foray Newfoundland and Labrador, "an amateur, volunteer-run, community, not-for-profit organization with a mission to organize enjoyable and informative amateur mushroom forays in Newfoundland and Labrador and disseminate the knowledge gained" (vol. 1, no. 2, p. 2)
On -extendability of generalized Petersen graphs
No full textsummary:Let be a generalized Petersen graph with , Then every pair of parallel edges of is contained in a 1-factor of . This partially answers a question posed by Larry Cammack and Gerald Schrag [Problem 101, Discrete Math. 73(3), 1989, 311-312]
First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic review.
No full textPartisan polarization is the primary psychological motivation behind “fake news” sharing on Twitter
No full textThis is Supplemental Materials for Osmundsen M, Bor A, Vahlstrup P, Bechman A, and Petersen MB. Partisan polarization is the primary psychological motivation behind “fake news” sharing on Twitter
Partisan polarization is the primary psychological motivation behind “fake news” sharing on Twitter
No full textThis is Supplemental Materials for Osmundsen M, Bor A, Vahlstrup P, Bechman A, and Petersen MB. Partisan polarization is the primary psychological motivation behind “fake news” sharing on Twitter
Partisan polarization is the primary psychological motivation behind “fake news” sharing on Twitter
No full textThis is Supplemental Materials for Osmundsen M, Bor A, Vahlstrup P, Bechman A, and Petersen MB. Partisan polarization is the primary psychological motivation behind “fake news” sharing on Twitter
Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy
No full textAbstract Background Deletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). 15q11-q13 duplication is another recognized syndrome due to rearrangements of several genes, belonging to the category of imprinted genes. The phenotype of this syndrome varies but has been clearly associated with developmental delay and autistic spectrum disorders. Co-existence of the two syndromes has not been reported so far. Results Here we report a 6-year-old boy presenting growth retardation, dysmorphic features and who exhibited learning difficulties. Fluorescence in situ hybridization (FISH) analysis of the proband revealed a deletion of DiGeorge Syndrome critical region (TUPLE). Array-CGH analysis revealed an interstitial duplication of 12 Mb in size in the area 15q11.2-q13.3, combined with a 3.2 Mb deletion at region 22q11.1-q11.21. FISH analysis in the mother showed a cryptic balanced translocation between chromosome 15 and chromosome 22 (not evident by classic karyotyping). Discusion The clinical manifestations could be related to both syndromes and the importance of array-CGH analysis in cases of unexplained developmental delay is emphasized. The present case further demonstrates how molecular cytogenetic techniques applied in the parents were necessary for the genetic counseling of the family.</p
Insights into cardiac remodelling by multi-modal magnetic resonance imaging and spectroscopy
No full textEThOS - Electronic Theses Online ServiceGBUnited Kingdo
Receiver Windowing Design for Narrowband Interference Mitigation in MB-OFDM UWB System
No full textIn 2005, the WiMedia Alliance working with the European Computer Manufacturers Association (ECMA) announced the establishment of the WiMedia MB-OFDM (Multiband Orthogonal Frequency Division Multiplexing) UWB radio platform as their global UWB standard. It was also chosen as the physical layer (PHY) of high data rate wireless specifications for high speed Wireless USB (W-USB), Bluetooth 3.0 and Wireless High-Definition Media Interface (HDMI). However, due to the low power and wide bandwidth nature of UWB systems, in-band narrowband interference (NBI) may hinder the receiver performance. This thesis presents an analysis of NBI impact on the MB-OFDM system for UWB communication. The intent of our analysis is to provide practical solutions for interference mitigation under different NBI models. In our work, a new receiver windowing for zero padding (ZP) OFDM system is proposed to reduce NBI spreading in the MB-OFDM UWB system. Simulations demonstrate the effectiveness of windowing under different NBI models.Microelectronics & Computer EngineeringElectrical Engineering, Mathematics and Computer Scienc
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