9 research outputs found
Infecção pelo vĂrus da hepatite A em área indĂgena da AmazĂ´nia oriental brasileira
- Author
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- 01/01/2004
- Field of study
Lengthening of the Forearm by Callus Distraction
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
Ischemic Preconditioning Attenuates Brain Edema After Experimental Intracerebral Hemorrhage
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Natural Product Glycosylation: Biocatalytic Synthesis of Quercetin-3,4′-O-diglucoside
- Author
- B Halliwell
- CT Bedford
- D Liang
- E Nicolle
- EJ Choi
- EK Lim
- G Weiz
- GL Miller
- H Luo
- Honghua Jia
- J Jeong
- J Ni
- JB Xiao
- JH Kim
- K Schmölzer
- KA Lombard
- Kequan Chen
- L Bungaruang
- L Chen
- L Elling
- L Weignerova
- Liangliang Chen
- LS Mazzaferro
- M Zielinska
- Ming Yan
- MM Bradford
- Ping Sun
- R Zhang
- RA Dixon
- Ruxin Cai
- S Masada
- S Ramos
- SH Nile
- T Makino
- XZ He
- Y Kashion
- Y Kim
- Y Wang
- Yan Li
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism
- Author
- A Hajianpour
- A Jeziorowska
- B Brandriff
- B Dutrillaux
- B Röthlisberger
- BK Goodman
- CM Conn
- CT Masada
- CĂ©cile Bas
- E Hubert
- E Tabolacci
- EG Navarro
- EL Maltby
- ES Sachs
- F Halal
- François M Petit
- Ghislaine Rousseau
- GĂ©rard Tachdjian
- H Bruyere
- H Elghezal
- I Cernakova
- J Zlotogora
- JD Delhanty
- JJ Hoo
- JP Fryns
- K Mehes
- K Muraki
- K Prabhakara
- KM Taylor
- Laure Lecerf
- Lucie Tosca
- M Beaulieu Bergeron
- M Narisawa-Saito
- Marie-Laure Maurin
- Michel Goossens
- Mireille Laroudie
- NE Morton
- Olivier Picone
- P Rump
- PD Grossfeld
- Philippe Labrune
- RJ Gardner
- RL Wong
- RR Chilcote
- S Lin
- S Uehara
- Sophie Brisset
- Sophie Prevot
- Sylvie Tapia
- T Otsuka
- U Engel
- V Ribes
- W Vogel
- Publication venue
- Nature Publishing Group
- Publication date
- 28/04/2010
- Field of study
A mosaicism is defined by the presence of two or more populations of cells with different genotypes in one individual. Chromosomal germinal mosaicism occurs in germ cells before the onset of meiosis. Previously, few studies have described germinal mosaicism. In this study, we report on two siblings who carried identical pure and direct interstitial 4q22.2q32.3 duplication. Procedure investigations included complete clinical description, conventional cytogenetic analysis, fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH) array experiments and microsatellite study searching for parental origin of the duplication. Microarray CGH and further FISH experiments with BAC clones showed the same 70.8 Mb direct duplication, dup(4)(q22.2q32.3). Molecular studies of the 4q duplication were consistent with maternal origin associated with mitotic or meiotic rearrangements. This structural chromosomal aberration was associated in both cases with increased nuchal translucency, growth retardation and dysmorphy. Cardiopathy and lung malformations were only evident in the first case. These clinical manifestations are similar to those previously reported in previous studies involving pure 4q trisomy of the same region, except for thumb and renal abnormalities that were not obvious in the presented cases. The amplified region included genes involved in neurological development (NEUROG2, MAB21L2, PCDH10/18 and GRIA2). The recurrent 4q duplication in these siblings is consistent with a maternal ovarian germinal mosaicism. This is the first description of germinal mosaicism for a large chromosomal duplication and highlights that genetic counselling for apparently de novo chromosome aberration should be undertaken with care
Enhanced Production of Nargenicin A1 and Generation of Novel Glycosylated Derivatives
- Author
- AC Weymouth-Wilson
- AK Jha
- Amit Kumar Jha
- Anaya Raj Pokhrel
- C Olano
- C Olano
- CT Walsh
- CZ Wu
- D Koju
- D Simkhada
- Dipesh Dhakal
- G Williamson
- GG Zhanel
- J White-Phillip
- Jae Kyung Sohng
- JC Yoo
- Jin Cheol Yoo
- JK Sohng
- K Terasaka
- KI Priyadarsini
- LT Tuoi
- M Gorska
- MM Bradford
- P Parajuli
- P Periti
- Prakash Parajuli
- Ramesh Prasad Pandey
- RB Gurung
- RitBahadur Gurung
- RP Pandey
- RP Pandey
- RW Gantt
- S Maharjan
- S Maharjan
- S Maharjan
- S Malla
- S Masada
- S Paudel
- S Singh
- SH Kim
- SY Lee
- T Desmet
- T Furumoto
- Tuoi Thi Le
- V Kren
- WD Celmer
- Y Gao
- YH Yang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Imprinted genes and their role in human fetal growth
- Author
- Abu-Amero S
- Abu-Amero SN
- Abu-Amero SN
- Andres RL
- Baird J
- Barker DJ
- Barker DJP
- Barlow DP
- Barton SC
- Bentley L
- Blagitko N
- Blagitko N
- Botero D
- Cance-Rouzaud A
- Chan Y
- Chauvel PJ
- Clausson B
- Cotter PD
- D. Monk
- Dahms NM
- Deltour L
- Eggermann T
- Eggermann T
- Engel JR
- Filson AJ
- Fisher AM
- G. Moore
- Georgiades P
- Giannoukakis N
- Hitchins MP
- Hitchins MP
- Hitchins MP
- Hitschold T
- Holm VA
- Jackson MR
- Johnson P
- Joyce CA
- Kohlhase J
- Kotzot D
- Kotzot D
- Kurosawa K
- Lassarre C
- Laviola L
- Ledbetter DH
- Ma D
- Mackay DJ
- Maher ER
- Masada CT
- McCormick M
- McGrath J
- McIntire DD
- Miyoshi N
- Monk D
- Monk D
- Monk D
- Monk D
- Moore GE
- Moore T
- Morison IM
- Mutter GL
- Nakabayashi K
- Nakabayashi K
- O'Riordan S
- P. Stanier
- Pastrakuljic A
- Piras G
- Pollack RN
- Preece MA
- Price S
- Reik W
- Riesewijk AM
- Ruggeri A
- Russell A
- S. Abu-Amero
- S. Apostolidou
- Saxena A
- Schwienbacher C
- Searle AG
- Silver H
- Smith AC
- Sutton VR
- Sutton VR
- Varrault A
- Varrault A
- Vaughan J
- Vu TH
- Wakeling EL
- Wakeling EL
- Weisstein AE
- Yamada T
- Yang T
- Younis JS
- Publication venue
- 'S. Karger AG'
- Publication date
- Field of study
Site-based versus subject-based periodontal diagnosis
- Author
- Addy M
- Agerholm DM
- Akalin FA
- Amarasena N
- Asikainen S
- Aucott DM
- Axtelius B
- Badersten A
- Badersten A
- Badersten A
- Beck J
- Beck JD
- Beck JD
- Bueno LC
- Cattabriga M
- Chen C
- Claffey N
- Claffey N
- Croucher R
- Davenport ES
- De Nardin AM
- Delude RL
- DeStefano F
- Eley BM
- Falk H
- Fleiss JL
- Gilthorpe MS
- Glavind L
- Groswinckel JEM
- Haffajee AD
- Haffajee AD
- Hansen BF
- Hanson W.
- Hujoel PP
- Ismail AL
- Johnson V
- Kaldahl WB
- Kaldahl WB
- Kerr NW.
- Kilic AR
- Kiyak HA.
- Lamont RJ
- Lamster IB
- Leung WK
- Lindhe J
- Lindhe J
- Lindhe J
- Loe H
- Loe H.
- Machtei EE
- Magnusson I
- Masada MP
- Meurman JH
- Michalowicz Aepple DP
- Mombelli A
- Mooney J
- Offenbacher S
- Onoue S
- Orozco AH
- Pam CT
- Panageas KS
- Papapanou PN
- Papapanou PN
- Persson GR
- Persson GR
- Persson GR
- Persson GR
- Persson GR
- Persson RE
- Persson RE
- Pihlstrom BL
- Pihlstrom BL
- Pindborg J.
- Pitiphat W
- Preber H
- Ramfjord SP
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- Renvert S
- Renvert S.
- Riviere GR
- Rosner B.
- Sanders LA
- Silness J
- Socransky SS
- Socransky SS
- Soderholm G
- Tedesco LA
- Tew JG
- Theilade E
- Thomson WM
- Tonetti MS
- Weinstein MC
- Publication venue
- 'Wiley'
- Publication date
- Field of study
Listing of Protein Spectra
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- S Pollack
- S Ravindranath
- S Reinman
- S Ridsdale
- S Sato
- S Sato
- S Sato
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- S Shirai
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- S Takemori
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- S Toyama
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- S Ueno
- S Watanabe
- S Werner
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- S Yamamoto
- S Yamamoto
- S Yoshida
- S Yoshida
- S Yoshikawa
- S Yoshikawa
- S. L. Gaff in and S. Watanabe J
- S. L. Gaff in and S. Watanabe J
- S. S. L
- SA Asher
- SA Ghabrial
- SA Ghabrial
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- SM Dudkin
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- ST Olson
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- SV Paranjpe
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- T
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- T Beeler
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- T Sakai
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- T Sasazuki
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- T Satoh
- T Satyanarayana
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- T Shimizu
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- T Silsand
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- T Stelmaszynska
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- T Sugiyama
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- T Suzuki
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- T Tachiki
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- T Tachiki
- T Takahashi
- T Tanaka
- T Taniguchi
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- T Taniguchi
- T Ueda
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- T Uozumi
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- VT Aikazyan
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- VV Mesyanzhinov
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- W Ardelt
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- WH Bannister
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- Y
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- Y Motokawa
- Y Muto
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- Y Nakagawa
- Y Nakamura
- Y Nisimoto
- Y Nisimoto
- Y Ohta
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- Y Ohta
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- Y Orii
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- Y Sanada
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- Y Seki
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- Y Stefanovsky
- Y Sugimura
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- Y Sugita
- Y Takahara
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- Y Tanagida
- Y Tani
- Y Tani
- Y Tominaga
- Y Tominatsu
- Y Tominatsu
- Y Watanabe
- Y Yamasai
- Y Yasukochi
- Y Yasukochi
- Y Yoshida
- Y Yoshida
- Y Yoshida
- Y. Miyake T. Abe, and T. Yamano, in International Symposium on Oxidases and Related Redox Systems
- YA Sharonov
- YA Sharonov
- YA Sharonov
- YE Erokhin
- YJ Kang
- YK Turakulov
- YK Turakulov
- YK Yip
- YP Lin
- YP Meyer
- YP Meyer
- YP Meyer
- YP Myer
- YS Choong
- YS Choong
- YV Peive
- YV Peive
- YV Pieve
- YV Shtamm
- YY Vasilev
- YYH Chao
- Z Bradic
- Z Gasyna
- Z Vogel
- Z Zak
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1984
- Field of study