5 research outputs found
GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis
- Author
- Publication venue
- 'Ovid Technologies (Wolters Kluwer Health)'
- Publication date
- 01/12/2019
- Field of study
Objective:
To describe the findings of histopathology and genotyping studies in affected brain tissue from
an individual with phacomatosis pigmentovascularis (PPV). /
Methods:
A retrospective chart review of a 2-year 10-month-old male with a clinical diagnosis of PPV
cesiomarmorata (or type V) was performed. Clinical features, brain imaging and histopathology
findings, and genotyping studies in his affected brain tissue are summarized. /
Results:
The proband had a clinically severe neurologic phenotype characterized by global developmental delay, generalized hypotonia, and recurrent episodes of cardiac asystole in the
setting of status epilepticus. A somatic pathogenic variant in GNA11 (c.547C>T, p.Arg183Cys)
was detected in his skin tissue but not in blood (previously published). He underwent an urgent
left posterior quadrantectomy for his life-threatening seizures. Histopathology of resected brain
tissue showed an increase in leptomeningeal melanocytes and abnormal vasculature, and the
exact pathogenic variant in GNA11 (c.547C>T, p.Arg183Cys), previously isolated from his skin
tissue but not blood, was detected in his resected brain tissue. /
Conclusions:
The finding of this variant in affected skin and brain tissue of our patient with PPV supports
a unifying genetic diagnosis of his neurocutaneous features
Application of a medium-energy collimator for I-131 imaging after ablation treatment of differentiated thyroid cancer
- Author
- BT Hung
- CS Bal
- Daiki Kayano
- DS Cooper
- E Mah
- HD Specht
- Hironori Kojima
- Hiroshi Wakabayashi
- Hiroto Yoneyama
- Hiroyuki Tsushima
- HK Tan
- ID Hay
- J Zeintl
- JMH Klerk
- JS Fleming
- K Tharp
- Keiichi Kawai
- KF Koral
- Koichi Okuda
- L Chen
- M Filesi
- M Kobayashi
- M Luster
- M Schlumberger
- Masahisa Onoguchi
- Masato Kobayashi
- NJ McGriff
- SC Kappadath
- Seigo Kinuya
- SI Sherman
- Takahiro Konishi
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Therapeutic Strategy of Papillary Microcarcinoma of the Thyroid Gland: A Nuclear Medicine Perspective
- Author
- A Fink
- AJ Adeniran
- AR Shaha
- B Cady
- B Riemann
- C Cappelli
- C Reiners
- CR McHenry
- DJ Lim
- DS Cooper
- DS Cooper
- DS Ross
- E Baudin
- E Papini
- E Roti
- E Roti
- EL Mazzaferri
- F Pacini
- F Pisello
- FL Greene
- G Viglietto
- GC Yang
- H Dralle
- H Dralle
- H Lerch
- HR Harach
- ID Hay
- J Lee
- J Rosai
- JY Kwak
- K Pazaitou-Panayiotou
- K Rahbar
- LA Akslen
- LH Sobin
- LH Sobin
- M Dietlein
- M Luster
- M Schlumberger
- MA Siddiqui
- MK Gospodarowicz
- ML Khoo
- MR Pelizzo
- MR Pelizzo
- N Besic
- NJ McGriff
- O Schober
- SB Edge
- SC Londero
- SI Sherman
- SM Chow
- Y Cheema
- Y Ito
- Y Yamamoto
- YE Nikiforov
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Physiologie und Pathologie des Renin/Angiotensin-Systems
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- A Beaulnes
- A Bianchi
- A Blalock
- A Blalock
- A Bohle
- A Bohle
- A Breckenridge
- A Distler
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- A Eisalo
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- A Grollman
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- A Grollman
- A Grollman
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- A Kaplan
- A Kumagai
- A Mazer
- A Merrill
- A Orollmann
- A Pasqualino
- A Rapoport
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- A Spät
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- A Verniory
- A Verniory
- A Verniory
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- P Blaquier
- P Blaquier
- P Bois
- P Cottier
- P Endes
- P Endes
- P Endes
- P FÃ¥rup
- P Govaerts
- P Govaerts
- P Govaerts
- P Govaerts
- P Govaerts
- P Govaerts
- P Hartroft
- P Imhof
- P Kezdi
- P Lichtlen
- P Loustalot
- P Meyer
- P Meyer
- P Meyer
- P Meyer
- P Meyer
- P Milliez
- P Weisz
- P.M. Hartroft
- PA Cavelti
- PA Khairallah
- PA Khairallah
- PA Khairallah
- PA Khairallah
- PA Khairallah
- PA Khairallah
- PA Khairallah
- PA Kot
- PA Lang
- PA Lang
- PA Robertson
- PA Robertson
- PA Rondell
- PD Redleaf
- PE Slaton
- PE Wisenbaugh
- PE Wisenbaugh
- PF Binnion
- PJ Cannon
- PJ Fonts
- PJ Mulrow
- PJ Mulrow
- PJ Mulrow
- PJ Mulrow
- PJ Mulrow
- PJ Mulrow
- PJ Mulrow
- PJ Mulrow
- PJ Mulrow
- PJ Mulrow
- PJ Mulrow
- PM Daniel
- PM Daniel
- PM Hartroft
- PM Hartroft
- PM Hartroft
- PM Hartroft
- PM Hartroft
- PM Hartroft
- PM Hartroft
- PM Hartroft
- PN Yu
- PP Leyssac
- PP Leyssac
- PP Leyssac
- PP Leyssac
- PP Moraea
- PT Pickens
- PY Hatt
- PY Hatt
- PY Hatt
- PY Hatt
- PY Hatt
- R Abdul-Karim
- R Boucher
- R Boucher
- R Boucher
- R Boucher
- R Boucher
- R Cade
- R Croxatto
- R DeRoos
- R Edelman
- R Edelman
- R Eraser
- R Gaunt
- R Gaunt
- R Gaunt
- R Gregory
- R Gregory
- R Hegglin
- R Heintz
- R Hess
- R Hess
- R Hess
- R Jaques
- R Laverty
- R Lenel
- R Meier
- R Meier
- R Meier
- R Poro Del
- R Sannerstedt
- R Schröder
- R Schröder
- R Schwyzer
- R Schwyzer
- R Schwyzer
- R Schwyzer
- R Schwyzer
- R Tigerstedt
- R Veyrat
- R Veyrat
- R Veyrat
- R Veyrat
- R Veyrat
- R Wedeen
- R Weiser
- R Yu
- R.R. Smeby
- RB Blacket
- RB Hickler
- RB Hickler
- RB Hickler
- RB Hickler
- RB Hickler
- RC Lillehei
- RC Nairn
- RD Bunag
- RD Cressman
- RD Gordon
- RD Gordon
- RD Gordon
- RD Moore
- RE Morris
- RE Morris
- RE Morris
- RG Abell
- RG Abell
- RH Harris
- RH Heptinstall
- RH Heptinstall
- RJ Cohen
- RJ Girerd
- RJ Girerd
- RK Bickerton
- RK Jones
- RL Hodge
- RL Hodge
- RL Malvin
- RL Wathen
- RL Wolf
- RM Boughton
- RM Stein
- RM Tucker
- RP Ames
- RP Finegan
- RR Smeby
- RR Smeby
- RR Smeby
- RR Susat
- RT Curnow
- RT Solis
- S Chandra
- S Chandra
- S Fukuchi
- S Giovannetti
- S Glabman
- S Gomba
- S Koletsky
- S Koletsky
- S Koletsky
- S Koletsky
- S Koletsky
- S Middleton
- S Moore
- S Rodbard
- S Rodbard
- S Rosenfeld
- S Rothman
- S Schapiro
- S Yagi
- S Yagi
- SC Freed
- SC Freed
- SD Deodhar
- SD Deodhar
- SD Deodhar
- SD Deodhar
- SE Bradley
- SE Downing
- SE Moutsos
- SH Kremen
- SL Skinner
- SL Skinner
- SL Skinner
- SL Skinner
- SL Skinner
- SM Friedman
- SM Friedman
- SM Friedman
- SM Friedman
- SM Friedman
- SM Friedman
- SM Friedman
- SM Sancetta
- SW Hoobler
- SW Hoower
- T Addis
- T Addis
- T Addis
- T Lehner
- T Omae
- T Omae
- T Omae
- T Torikai
- TA Stamey
- TA Stamey
- TA Stamey
- TC Brown
- TC Brown
- TC Lee
- TC Lee
- TC Westfall
- TE Emerson
- TF Ferris
- TL Goodfriend
- TL Goodfriend
- TL Goodfriend
- TR Harrison
- TR Harrison
- TR Harrison
- TUL Biber
- V Szokoly
- V Vertes
- VN Udhoji
- VN Udhoji
- W Brumfitt
- W Brumiitt
- W Dock
- W Dock
- W Feldberg
- W Feldberg
- W Feldberg
- W Meesmann
- W Nowaczynski
- W Rittel
- W Rittel
- W Waldhäusl
- WA Mersereau
- WB Berry
- WB Severs
- WC Poque
- WD Davis
- WD Love
- WD Reid
- WE Goorno
- WE Goorno
- WE Goorno
- WE Judson
- WE Lassiter
- WF Cook
- WF Cook
- WF Cook
- WF Cook
- WF Cook
- WF Cook
- WF Ganong
- WF Ganong
- WF Ganong
- WF Ganong
- WF Ganong
- WF Greenwood
- WF Oanong
- WG Kubicek
- WH Pritchard
- WH Tu
- WH Tu
- WJ Kolff
- WJ Kolff
- WJ Kolff
- WJ Kolff
- WJ Oliver
- WJ Oliver
- WL Brandt
- WP Johnson
- WS Hartroft
- WS Hartroft
- WS Kiser
- WS Peart
- WS Peart
- WS Peart
- WS Peart
- WS Peart
- WS Peart
- WS Peart
- WS Peart
- WS Peart
- WS Peart
- WS Peart
- WS Peart
- WS Peart
- WS Peart
- WS Peart
- WS Peart
- WS Peart
- WS Peart
- WT Williams
- Y Cuypers
- YJ Katz
- YJ Katz
- YJ Katz
- YJ Katz
- ZM Massani
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1968
- Field of study
Follicular cell-derived thyroid cancer
- Author
- A Fink
- A Greco
- A Machens
- A Machens
- A Memon
- A Vidal-Casariego
- AA Carhill
- AA Carhill
- AJ Adeniran
- AL Ho
- B Aschebrook-Kilfoy
- B Biondi
- B Huszno
- B McIver
- BK Richmond
- BR Haugen
- C Durante
- C La Vecchia
- C Mazzanti
- C Miranda
- C Regalbuto
- C Reiners
- C Romei
- CA French
- CFA Eustatia-Rutten
- CI Lundgren
- CJ O'Neill
- CK Jung
- CL Fenton
- CM Caudill
- CT Esapa
- D Giordano
- D Hiltzik
- D Hirsch
- D Navas-Carrillo
- D Russo
- D Viola
- DJ Finley
- DJ Powell Jr
- DP Blevins
- DS Cooper
- DS Kim
- DS Ross
- DT Hughes
- DV Becker
- E Baudin
- E Brignardello
- E Clero
- E Pötter
- E Roccato
- E Steinhagen
- EJ Kuo
- EK Alexander
- EL Mazzaferri
- EM Michaelson
- ER Braverman
- ES Cibas
- ET Kimura
- F Basolo
- F Gyory
- F Maloof
- F Pacini
- F Pacini
- F Pacini
- F Pacini
- F Pacini
- F Pitoia
- F Sundram
- F Vaisman
- FA Schutz
- G Conzo
- G Dionigi
- G Manenti
- G Mercante
- G Minelli
- G Neta
- G Pellegriti
- GC Hovens
- GM Oakley
- GM Oakley
- GS Falchook
- H Dralle
- H Dralle
- H Dralle
- H Dralle
- H Guan
- H He
- H Hoftijzer
- H Karga
- H Mehanna
- H Namba
- H Namba
- H Pelttari
- HG Suarez
- HM Rabes
- HS Ahn
- HW Balme
- I Bongarzone
- I Buttel
- I Landa
- I Sugitani
- I Sugitani
- ID Hay
- ID Hay
- J Albores-Saavedra
- J Almeida
- J Jonklaas
- J Ricarte-Filho
- JA Bishop
- JA Fagin
- JA van Heerden
- JB Clain
- JC Ricarte-Filho
- JC Ricarte-Filho
- JH Vas Nunes
- JI Botella-Carretero
- JJ Sancho
- JP Brito
- JP Brito
- JP Brito
- JP Brito
- JR Porterfield
- JW Kunstman
- K Hamatani
- K Ito
- K Pazaitou-Panayiotou
- K Shimaoka
- K Takahashi
- KB Kim
- KC Bible
- KH Dow
- KW Lee
- L Davies
- L Davies
- L Santarpia
- LA Niemeier
- LG Morris
- LG Tan
- LGT Morris
- LL Carr
- LM Kelly
- M Frattini
- M Gandhi
- M Gandhi
- M Herraiz
- M Iacobone
- M Knobel
- M Lise
- M Melo
- M Milas
- M Santoro
- M Santoro
- M Schlumberger
- M Volante
- M Volante
- M Xing
- M Xing
- ME Cabanillas
- MJ Armstrong
- MK Malone
- ML Richards
- ML Richards
- MN Nikiforova
- MN Nikiforova
- MN Nikiforova
- MN Nikiforova
- MR Castro
- MS Brose
- MS Brose
- N Arora 3rd
- N Besic
- N Journy
- N Li
- N Motoi
- N Wada
- NJ McGriff
- O Husson
- O Husson
- O Husson
- O Thomusch
- OH Clark
- P Hou
- P Hou
- P Jacob
- P Pallante
- P Radice
- PD Inskip
- PN Schultz
- PW Dickman
- PW Rosario
- Q Xiao
- R Asari
- R Ciampi
- R Dadu
- R Donghi
- R Ghossein
- R Metzger
- RA DeLellis
- RC Smallridge
- RI Richards
- RJ Leeman-Neill
- RM Tuttle
- RM Tuttle
- RR Malterling
- S Bardet
- S Chevillard
- S Ezzat
- S Franceschi
- S Franceschi
- S Leboulleux
- S Mardente
- S Nagataki
- S Rinaldi
- S Tagay
- S Vaccarella
- SC Londero
- SE Dutenhefner
- SI Sherman
- SL Woodruff
- SM Fincham
- SM Jhiang
- SM Niederer-Wüst
- SM Rothenberg
- SM Sadowski
- SY Cho
- T Dagan
- T Davids
- T Dwight
- T Higashiyama
- T Ibrahimpasic
- T Ito
- T Liu
- T Mizuno
- T Mizuno
- T Sehestedt
- TG Kroll
- TJ Giordano
- TJ Giordano
- TP Dunhill
- U Mallick
- V Nose
- V Nose
- V Trovisco
- WO Lui
- X Liu
- Y Cohen
- Y Dobashi
- Y Huang
- Y Ichikawa
- Y Ito
- Y Kushchayeva
- Y Nikiforov
- YA Cho
- YE Nikiforov
- YE Nikiforov
- YE Nikiforov
- YJ Park
- ZT Liu
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study