6 research outputs found
Effect of the environmental factors on diketopiperazine cyclo(Pro-Phe) production and antifungal activity of Bacillus amyloliquefaciens Q-426
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature
- Author
- A Bottani
- AG Hunter
- B Dallapiccola
- Bassem R Haddad
- Brian P Brooks
- BS Emanuel
- C Leonard
- C Stoll
- C Stoll
- C Turleau
- CA Brandt
- Claude Bendavid
- Delphine Blain
- H Rivera
- I Luquet
- J Flint
- J Hebebrand
- J Luo
- J Mucke
- Jeanne M Meck
- Jeffrey A Toretsky
- JL Carrasco Juan
- KL Jones
- LE McMorrow
- M Tschernigg
- MA Mori
- MC Brodsky
- MK Bofinger
- ML Martinez-Frias
- MP Hewson
- MR Creasy
- MS Deiner
- MT Dattani
- N Kokalj-Vokac
- NJ Leschot
- PJ O'Hara
- RA Pfeiffer
- S Gilgenkrantz
- SH Roberts
- SM Jalal
- TA O'Connor
- TJ Van Raay
- U Kuhnle
- Y Fukushima
- Y Yokoyama
- Publication venue
- BMC
- Publication date
- 01/01/2006
- Field of study
<p>Abstract</p> <p>Background</p> <p>Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments.</p> <p>Case Presentation</p> <p>A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly, a seizure disorder, multiple midline abnormalities (agenesis of the corpus callosum, imperforate anus, bilateral optic nerve hypoplasia), developmental delay, hypopigmented macules, short 5<sup>th </sup>fingers, and sleep apnea due to enlarged tonsils. Cytogenetic and fluorescence <it>in situ</it> hybridization analyses revealed an unbalanced translocation involving the segment distal to 16p13 replacing the segment distal to 13q33 [46, XY, der(13)t(13;16)(q33;p13.3)]. Specific BAC-probes were used to confirm the extent of the 13q deletion.</p> <p>Conclusion</p> <p>This unique unbalanced chromosomal translocation may provide insights into genes important in midline development and underscores the previously-reported phenotype of Factor VII deficiency in 13q deletions.</p
Efficacy, safety and tolerability of atorvastatin in dyslipidemic subjects with advanced (non-nephrotic) and endstage chronic renal failure
- Author
- A Bofinger
- A Ikejiri
- BC Fellstrom
- BH Wolffenbuttel
- C Baigent
- C Wanner
- C Wanner
- Colleen Morgan
- CR Sirtori
- D Saltissi
- David Saltissi
- DG Karalis
- E Hurt-Camejo
- E Matthys
- F Bernini
- G Hufnagel
- H Jansen
- Helen Healy
- HM Colhoun
- HS Malhotra
- JF Navarro
- JH Brown
- JM van der Akker
- JR McNamara
- Justin Westhuyzen
- JY Yeun
- K Berneis
- KA Doornbrook-Lavender
- KP Harris
- KY Wang
- L Pontrelli
- LA Simons
- M Lariviere
- M Sentí
- MJ Stampfer
- MM Prata
- MR Law
- N Hoogerbrugge
- O Wiklund
- P Li
- P-O Attman
- PO Attman
- R Agarwal
- R Marangoni
- RC Ozsoy
- RG Bakker-Arkema
- RL Lins
- RL Lins
- RS Nanra
- S Beddhu
- SL Seliger
- V Melenovsky
- VG Athyros
- Y Nishizawa
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Cerebrovascular complications of fibromuscular dysplasia
- Author
- A Bofinger
- A Camacho
- A Verdu Perez
- AA Zurin
- AG Osborn
- AK Tan
- AN Hasso
- Anna Finley
- AR Rushton
- B Mokri
- B Mokri
- B Solder
- BA Sandok
- BA Sandok
- BH Gray
- C Arning
- C Buttinelli
- CN Sang
- CP Russo
- D Belen
- DC Smith
- DJ Effeney
- DK Grange
- DW Cox
- DW Cox
- EB Healton
- EB Healton
- EG Harrison
- EL So
- EL So
- EO Lipchik
- F Escamilla
- F Perez Errazquin
- FP Wirth
- FY Shi
- G Osseby
- G Sanchez Torres
- G Smul De
- GE Wilms
- GJ Collins Jr
- GM Szpak
- H Damme Van
- H Imaya
- H Petit
- HI Manninen
- HJ Cloft
- I Pannier-Moreau
- J Bellot
- J Finsterer
- J Link
- J Romero-Lopez
- J Sandmann
- JA Hernesniemi
- JB Stokes
- JC Morgenlander
- JC Stanley
- JE Heiserman
- JL Atkinson
- JL Ballard
- JL Mas
- JL Saver
- JL Weissman
- JW Correll
- K Hatayama
- K Hegedus
- KL Mettinger
- KL Mettinger
- LN Hopkins
- Louis R. Caplan
- LR Caplan
- M DiFazio
- M Fievez
- M Galanski
- M Lancman
- M Miyauchi
- M Takigami
- M Tripathyi
- MA Duncan
- MA Rodacki
- Megan C. Leary
- MJ Heffelfinger
- ML Fievez
- MR Balaji
- MT Stewart
- N Kubis
- N-C Chin
- OJ Boespflug
- OW Houser
- P Amarenco
- P Begue
- P Bour
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- P Hinse
- P Mitsias
- P Moreau
- P Welsh
- PR Bernstein
- R Bigazzi
- R Dziewas
- RR DeVries
- RV Phadke
- RY Rhee
- S Mandai
- S Miyake
- S Nomura
- S Watanabe
- SJ Rybka
- SM Begelman
- SM Kubaska 3rd
- SM Wolpert
- SS Srivastava
- T Chiras
- T Hirai
- T Yoshimoto
- TF Luscher
- TF Lusher
- TK Curry
- TM Sundt Jr
- V Puir
- V Puri
- W Sandmann
- WA Friedman
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- WI Schievink
- WI Schievink
- WI Schievink
- WI Schievink
- WI Schievink
- WI Schievink
- WK Ehrenfeld
- Y Alimi
- Y Nozaki
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- 'Springer Science and Business Media LLC'
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Allgemeine Radiologie und Morphologie der Knochenkrankheiten
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- A Ascenzi
- A Ascenzi
- A Benezowski
- A Benninghoff
- A Benninghoff
- A Bidder
- A Brunschwig
- A Büll
- A Büll
- A Chatelein
- A Engström
- A Engström
- A Fanconi
- A Fonio
- A Gebauer
- A Grassberger
- A Jung
- A Klümper
- A Klümper
- A Leri
- A Lichtwitz
- A Lichtwitz
- A Lichtwitz
- A Liechti
- A Lob
- A Lunderquist
- A Neiss
- A Norman
- A Nussbaum
- A Pinard
- A Pohner
- A Policard
- A Prader
- A Ravelli
- A Schupbach
- A Schüller
- A Schüller
- A Streda
- A Vogt
- A Weiss
- A. Büll
- A. Dhem
- A. Hopf
- AB Rossier
- AC Brower
- AC Brower
- AC Brower
- AH Huggler
- AJ Moos
- AJ Olah
- AJ Olah
- AJ Olah
- Alwens
- AN Jacobs
- AR Winterberger
- AS Posner
- AW Ham
- B Engfeldt
- B Frame
- B Frame
- B Hammer
- B Jacobson
- B Krempien
- B Krempien
- B Kummer
- B Kummer
- B Kummer
- B Madsen
- B Notter
- B Pines
- B Strickland
- B Stöver
- B Vahlquist
- B. DE Bordeaux
- B. Engfeldt
- BA Ashton
- BA Cheney
- BA Cheney
- Bandförmige Osteolysen in den End¬phalangen des Handskeletts
- BE Roberts
- BEC Nordest
- BEC Nordest
- BEC Nordest
- BEC Nordest
- BEC Nordest
- BJ Reilly
- BL Pear
- BL Riggs
- BN Epker
- Bofinger
- C Aeby
- C Reiners
- C Rouiller
- C Rouiller
- C Rouiller
- C Rouiller
- C Sacerdotti
- C-E Lange
- C. A. Baud
- C. Colbert
- C. Deutschländer
- C. Rouiller
- CA Baud
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- CAL Bassett
- CB Huggins
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- CE Dent
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- Chr. I. Baastrup
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- D Banzer
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- D Knorr
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- D. Carlström
- D. J. Deller
- D. U. Bloor
- DA Cameron
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- DA Heath
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- Derivate. Grenzgeb
- DH Carlson
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- Frakturnagelung und Verschraubung aus mor-phologischer Sicht. Langenb
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- G Axhausen
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- P Naumann
- P Naumann
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- RP Heaney
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- Rössle
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- W Dihlmann
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- WSS Jee
- WV Simon
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- Y Ayakawa
- York-Toronto-London
- Z Banki
- Z Molnar
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1976
- Field of study
Pathophysiology of Hypertension
- Author
- A Alagappan
- A Barath
- A Binder
- A Bofinger
- A Colao
- A Humar
- A Inoue
- A Moutabarrik
- A Sato
- A Siewert-Delle
- A Singhal
- A Stec
- AA Geisterfer
- AA Silva da
- AB Chapman
- AB Gruskin
- AC Simoes-e-Silva
- AC Vingerhoeds
- AH Anderson
- AH Danser
- AH Hemachandra
- AJ King
- AJ Olyaei
- AK Bidani
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- AK Gupta
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- AM Allen
- AM DelliPizzi
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- AP Davenport
- AP Golbang
- AP Rocchini
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- AR Rushton
- AV Ferguson
- AV Krassioukov
- AW Cowley Jr
- AW Voors
- B Falkner
- B Falkner
- B Folkow
- B Sibai
- B Watschinger
- BC Berk
- BC Berk
- BD LaMarca
- BE Baysal
- BJ Morgan
- BK Kramer
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- BM Iversen
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- C Geet Van
- C Gennaro Di
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- C Letizia
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- C Rose
- C Savoia
- C Savoia
- C Savoia
- C Take
- C Yallampalli
- C Zeng
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- CE Gomez-Sanchez
- CL Huang
- CL Huang
- CL Marcus
- CM Law
- CM Nzerue
- CM Sorensen
- D Astuti
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- D Erickson
- D Kenny
- D McAreavey
- D Susic
- D Wang
- DA Duprez
- DA Laskow
- DA Mary
- DE Benn
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- DG Simons-Morton
- DI Feig
- DI Feig
- DJ Barker
- DJ Barker
- DJ Campbell
- DL Williams Jr
- DN Muller
- DN Muller
- DR Rutledge
- DS Celermajer
- DS Geller
- DS Geller
- DS Goldstein
- E Charmandari
- E Eng
- E Erkan
- E Gkaliagkousi
- E Kamynina
- E Lambert
- E Lurbe
- E Sewerynek
- E Vicaut
- E Wuhl
- EA Anderson
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- ESAC Simoes
- F Contreras
- F Latif
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- FH Wilson
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- G Mercuro
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- H Koyama
- H Kumagai
- H Matsubara
- H Schuster
- H Xue
- H Zhu
- H Zhu
- HC Nystrom
- HF Cheng
- HF Lopes
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- HP Neumann
- HP Neumann
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- I Comino-Mendez
- I Klein
- I Klein
- IF Shatat
- IL Nilsson
- IM Longini Jr
- J Beltowski
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- J Dupuis
- J Feber
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- J Krushkal
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- J Moller
- J Montenegro
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- J Warolin
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- JC Lam
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- JJ Brown
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- JM Roberts
- JP Forman
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- JR Chapman
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- JR Ivy
- JS Gilbert
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- JT Flynn
- JT Flynn
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- K Friedman
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- K Song
- K Sugimoto
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- KE Bornfeldt
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- KP Conrad
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- LG Sanchez-Lozada
- LJ Appel
- LL Woods
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- M Bader
- M Botero-Velez
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- M Choi
- M Choy
- M Epstein
- M Esler
- M Furuhashi
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- M Imanishi
- M Johansson
- M Johansson-Kark
- M Kohno
- M Koupenova
- M Laakso
- M Mazzali
- M Mazzali
- M Mitsnefes
- M Molnar
- M Pirpiris
- M Rahman
- M Ruiz-Ortega
- M Sato
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- MA Alvarez-Lara
- MA Bailey
- MB Belfort
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- MH Weinberger
- MI New
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- MP Nasrallah
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- MR Law
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- MY Arar
- N Bilginturan
- N Lameire
- N Ouchi
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- N Tentolouris
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- NG Beratis
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- O Staub
- P Lijnen
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- P Vallance
- P Vallance
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- PC Wong
- PG Howard
- PJ Barnes
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- PJ Hunt
- PL Enright
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- PM Baldini
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- R Sarzani
- RA Dampney
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- RP Lifton
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- RS Ahima
- RY Moore
- S Baumwell
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- S Ergul
- S Ertek
- S Fountoulakis
- S Galic
- S Heidenreich
- S Julius
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- S Masilamani
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- S Moncada
- S Nakamura
- S Niemann
- S Pouria
- S Rajagopalan
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- SE Gitlow
- SH Alwasel
- SM Halbach
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- SR Pandi-Perumal
- SS Williams
- ST Morris
- T Boke
- T Hannila-Handelberg
- T Ichiki
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- T Ishimitsu
- T Mune
- T Nakada
- T Nakaki
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- T Okada
- T Saigusa
- T Seeman
- T Seeman
- T Takenaka
- TA Mansfield
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- TE Hunley
- TG Pickering
- TL Reudelhuber
- U Scherrer
- UN Das
- V Audard
- V Fonseca
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- V Schwenger
- VD Goncharuk
- VH Koch
- VM Campese
- VO Edvardsson
- W Koenig
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- WJ Welch
- WK Paver
- WM Bennett
- WO Sampaio
- WS Spielman
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- X Jeunemaitre
- Y Higashi
- Y Hirata
- Y Ichiki
- Y Miyoshi
- Y Takeda
- Y Takeda
- Y Wang
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- Z Gunduz
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study