6 research outputs found
Gitelman's syndrome: towards genotype-phenotype correlations?
- Author
- A Bettinelli
- A Reissinger
- DB Simon
- DN Cruz
- DR Phillips
- E Coto
- E Sabath
- Eva Riveira-Munoz
- G Gamba
- HH Lemmink
- HJ Gitelman
- I Zelikovic
- J Loffing
- JC Jong de
- JC Jong de
- JW Verlander
- KP Schlingmann
- M Peters
- MJ Welsh
- N Jeck
- N Jeck
- Olivier Devuyst
- PJ Schultheis
- Qing Chang
- René J. Bindels
- RG Morris
- RS Hoover
- RT Pachulski
- S Kunchaparty
- SC Hebert
- SC Reinalter
- SH Lin
- T Nijenhuis
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2007
- Field of study
Contains fulltext :
51735.pdf (publisher's version ) (Closed access)Gitelman's syndrome (GS) is a salt-losing tubulopathy characterized by hypokalemic alkalosis with hypomagnesemia and hypocalciuria. The disease is associated with inactivating mutations in the SLC12A3 gene that codes for the thiazide-sensitive Na+-Cl- cotransporter (NCCT) that is expressed in the apical membrane of the cells lining the distal convoluted tubule (DCT). GS is relatively frequent, and more than 100 mutations scattered through SLC12A3 have been identified thus far. Although the disease is recessively inherited, up to 40% of patients are found to carry only a single mutation, instead of being compound heterozygous or homozygous. The phenotype of GS is highly heterogeneous in terms of age at presentation, and nature/severity of the biochemical abnormalities and clinical manifestations. This phenotypical heterogeneity is observed not only between all patients harbouring SLC12A3 mutations but also among family members or patients with identical mutations. In this review, we discuss the potential explanations for the failure to identify mutant alleles in SLC12A3, as well as the different mechanisms that can account for the inter- and intra-familial phenotype variability in GS, including genetic heterogeneity, position and nature of the mutations, functional consequences, compensatory mechanisms, and modifying genes
Lethal and sublethal effects of the saline stressor sodium chloride on Chironomus xanthus and Girardia tigrina
- Author
- A Novelli
- A Przhiboro
- ACM Rodrigues
- AK Todd
- AMC LĂłpez
- AR PĂ©ry
- AS Saraiva
- ASP Dornelas
- B Neumann
- B Santos
- BJ Kefford
- C Venâncio
- C Venâncio
- DF Ferreira-Junior
- DF Ferreira-Junior
- DJ Soucek
- EF Legner
- EV Balushkina
- G Nogueira
- GM El-Shabrawy
- GM Nano
- I Lopes
- I Walker
- J Talbot
- JAM Pedrosa
- JP Wu
- JP Wu
- JR Olson
- K Rind
- KL Hassell
- LC Ferrington
- LPR MacĂŞdo
- M Cañedo-Argüelles
- M Cañedo-Argüelles
- M Grzesiuk
- M Hunt
- M Tyree
- MAPF Santos
- ME Benbow
- MJ Kokkinn
- MM Hasan
- MMED Ghazy
- MS Schuler
- N Bonada
- NA Berezina
- NV Shadrin
- NV Shadrin
- NV Shadrin
- P Drake
- PL Gillis
- PU Ofoegbu
- PU Ofoegbu
- PW Reddien
- S Pal
- SA Nutile
- SS Kaushal
- SS Moreira
- T Inoue
- T Inoue
- T Knakievicz
- T Knakievicz
- T Knakievicz
- USEPA - Environmental Protection Agency
- V Cartier
- V Taenzler
- VR Riveira
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Kidney Is Essential for Blood Pressure Modulation by Dietary Potassium
- Author
- A Blanchard
- A Mente
- A Mente
- A Saint-Remy
- AC Guyton
- AC Guyton
- AD Baron
- AD Lopez
- AJ Zillich
- AL Mark
- AS Terker
- AS Terker
- AT Piala
- B Xu
- BF Palmer
- BL Carter
- C Richardson
- Chao-Ling Yang
- CR Boyd-Shiwarski
- D Chabardes
- D Pacheco-Alvarez
- David H. Ellison
- DB Simon
- DGA Committee
- DH Ellison
- E Riveira-Munoz
- EI Ekinci
- EP Feener
- FJ Haddy
- FJ He
- FN Board
- G Frindt
- G Giebisch
- G Grassi
- G Mancia
- G Mancia
- GC Amberg
- GG Krishna
- GM Dolson
- HJ Adrogue
- J Bekaert
- J Shah
- J-C Chen
- JB Stokes
- JF Buyck
- JJ Zaritsky
- JM Geleijnse
- JN Cohn
- JP Ollivier
- JW Rowe
- K Hierholzer
- K Stolarz-Skrzypek
- KJ Foreman
- KT Khaw
- L D'Elia
- L Tobian
- L Yang
- M Brandis
- M Esler
- M O'Donnell
- M Shekarabi
- M Zacchia
- MA Knepper
- MC Houston
- MF Villamil
- MJ O'Donnell
- MJ Peach
- MM Joosten
- MV Sorensen
- MX Wang
- N Graudal
- N Shahi
- N van der Lubbe
- NA Graudal
- NJ Aburto
- NJ Aburto
- NM Keith
- NR Cook
- NV Knoers
- OJ Rhee
- P Elliott
- P Meneton
- P Meneton
- P Meneton
- PA James
- Q Xu
- RD McCabe
- RG Dluhy
- RH Eckel
- RJ Cody
- RJ Cody
- S Bazua-Valenti
- SA Klarr
- SB Eaton
- SS Hedayati
- W Ji
- Xiao-Tong Su
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Solvent-Free FeCl3-Assisted Electrophilic Fluorine-Catalyzed Knoevenagel Condensation to Yield α,β-Unsaturated Dicarbonyl Compounds and Coumarins
- Author
- A Chilin
- A Gonzalez-Gonzalez
- BB Snider
- Bin Lin
- BP Sunanda
- C Du
- D Bogdal
- D Khan
- D Prajapati
- D Rasna
- DI Macdonald
- DJ Macquarrie
- E Giovanelli
- F Bigi
- F Texier-Boullet
- FA Davis
- FK Xie
- FS Abdul Rahman
- FS Prout
- Fukai Xie
- G Jones
- H Shi
- HS Mona
- HY Song
- J Baudoux
- J Ma
- JA Ma
- Jiang Zhu
- JK Kim
- JL Van der Baan
- JM Fraile
- JW Ap-Simon
- K Danish
- K Paul
- K Zhang
- KC Nicolaou
- KM Engle
- KS Levchenko
- KS Siddegowda
- LF Tietze
- LF Tietze
- LNS Konidena
- LS da Silveira Pinto
- Lu Yang
- M Tanaka
- M Younes
- MA Salem
- Maosheng Cheng
- MH Majid
- MJ Riveira
- MM Heravi
- MM Heravi
- ND Ball
- NN Karade
- O Rousseau
- PA Sibbald
- Q Liu
- R Devi
- R Tanikaga
- R Vellalacheruvu
- RF Silver
- RH Vekariya
- RN Booher
- RN Latha
- S Kolita
- S Mudulkar
- SK Shrivastava
- SQ Gao
- SS Kumbar
- SS Kumbar
- SS Syed
- T Fukuyama
- T Liang
- T Xu
- TJ Barker
- V Angelo
- V Boucard
- V Narsaiah
- V Pedro
- X Wang
- Xiaoshi Peng
- XW He
- XW He
- Y Li
- Yongxiang Liu
- YSV Rukachaisirikul
- Z Ren
- Publication venue
- 'Pleiades Publishing Ltd'
- Publication date
- Field of study
Renal tubular disorders of electrolyte regulation in children
- Author
- A Azak
- A Belot
- A Bettinelli
- A Bettinelli
- A Bettinelli
- A Bettinelli
- A Bettinelli
- A Blanchard
- A Blanchard
- A Chaudhuri
- A Godron
- A Goytain
- A Hannemann
- A Hanukoglu
- A Hanukoglu
- A Hanukoglu
- A Ikari
- A Kockerling
- A Leonhardt
- A Li
- A Morton
- A Morton
- A Ohta
- A Pallauf
- A Persu
- A Reissinger
- A Rudin
- A So
- AD Schachter
- AG Janssen
- AJ Shaer
- AM Meyers
- AR Lafferty
- AS Balavoine
- AT Piala
- B Escoubet
- B Glaudemans
- B Zimmermann
- BC Rossier
- BC Rossier
- BC Rossier
- BE Xu
- BE Xu
- BW Bapty
- C Barlassina
- C Cortesi
- C Delaloy
- C Hanevold
- C Ho
- C Neusch
- C Newton-Cheh
- C Rouffignac de
- C Schmitz
- C Schwarz
- C Vigano
- C Will
- C Zhang
- CA Pressler
- CA Wagner
- CC Mourani
- CE Deppe
- CG Nichols
- CL Chou
- CL Kurtz
- CM Bates
- CM Canessa
- CR Edwards
- Cruz DN Shaer AJ, Bia MJ, Lifton RP, Simon DB
- CS Anast
- CY Wang
- D Armanini
- D Bockenhauer
- D Feldmann
- D Firsov
- D Landau
- D Landau
- D Muller
- D Rotin
- DA Calhoun
- DA Hillman
- DA McCredie
- DB Cheek
- DB Simon
- DB Simon
- DB Simon
- DB Simon
- DB Simon
- DC Hu
- DE Cole
- DG Warnock
- DH Ellison
- DH Jones
- DJ Sutherland
- DM Clive
- DN Cruz
- DS Geller
- DS Geller
- DS Geller
- DS Geller
- DS Geller
- DS Geller
- E Arystarkhova
- E Arystarkhova
- E Baker
- E Charmandari
- E Coto
- E Kerem
- E Moreno
- E Puricelli
- E Ramos
- E Riveira-Munoz
- E Riveira-Munoz
- E Riveira-Munoz
- E Sabath
- E Vidal-Petiot
- EJ Hoorn
- EL Hubert
- EM Brown
- EM Brown
- EM Brown
- EM Brown
- F Bartter
- F Bulucu
- F Claverie-Martin
- F Emma
- F Mantero
- F Manz
- F Pizzolo
- F Verrey
- F Zannad
- FC Bartter
- FG Riepe
- FG Riepe
- FH Wilson
- FH Wilson
- FJ Arjona
- FL Fernandes-Rosa
- FR Schumacher
- G Addolorato
- G Bulchmann
- G Colussi
- G Colussi
- G Colussi
- G Ducarme
- G Finer
- G Finer
- G Gamba
- G Liddle
- G Madrigal
- G Massa
- G Morineau
- G Rickheit
- G Vezzoli
- GA Quamme
- GA Quamme
- GA Quamme
- GN Hendy
- GP Wong
- H Belge
- H Castrop
- H Heath 3rd
- H Kumagai
- H Louis-Dit-Picard
- H Matzkin
- H Mayan
- H Mayan
- H Ren
- H Ren
- H Shalev
- H Shalev
- H Shalev
- H Sun
- HG GĂĽllner
- HH Lemmink
- HJ Gitelman
- HJ Timmers
- HW Seyberth
- HW Seyberth
- I Arany
- I Zelikovic
- IC Meij
- IC Meij
- IH Lieber
- IH Su
- International Collaborative Study Group for Bartter-like Syndromes
- IR Gunn
- J Auwerx
- J Hadchouel
- J Hou
- J Jasti
- J Loffing
- J Loffing
- J Pedro-Botet
- J Rodriguez-Soriano
- J Rodriguez-Soriano
- J Rodriguez-Soriano
- J Rodriguez-Soriano
- J Rodriguez-Soriano
- J RodrĂguez-Soriano
- J RodrĂguez-Soriano
- J RodrĂguez-Soriano
- J Teiwes
- J Wijst van der
- JC Jong de
- JD Kennedy
- JE Garrett
- JG Hoenderop
- JG Hoenderop
- JH Baaij de
- JH Hansson
- JM Achard
- JM Achard
- JM Martin
- JN Lorenz
- JP Bilezikian
- JP Langhendries
- JR Brimacombe
- JR Jonsson
- JS Stoff
- JT Bundy
- JT Fletcher
- JW Funder
- JY Kim
- K Brochard
- K Nozu
- K Nozu
- K Nozu
- K Oki
- K Panichpisal
- K Sato
- KD Fine
- KM Curnow
- KP Schlingmann
- KP Schlingmann
- KP Schlingmann
- KP Schlingmann
- KQ Yang
- KT Kahle
- KW Joo
- L Bonfante
- L Casatta
- L Fang
- L Heidet
- L Nicolet-Barousse
- L Pascoe
- L Pascual-Le Tallec
- L Paunier
- L Pujo
- L Punzi
- L Schild
- L Shoemaker
- L Vetrugno
- LA Calò
- LA Calò
- LA Loomba-Albrecht
- LC Liaw
- LJ Dai
- LJ Dai
- LM Boyden
- M Adachi
- M Adachi
- M Adachi
- M Aglony
- M Bai
- M Botero-Velez
- M Ceri
- M Chaves-Canales
- M Choi
- M Dirlewanger
- M D’Avanzo
- M Fischer
- M Glover
- M Gourmelen
- M Keck
- M Konrad
- M Konrad
- M Konrad
- M Konrad
- M Kömhoff
- M Lu
- M Okada
- M Palermo
- M Peters
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- M Praga
- M Sarli
- M Stowasser
- M Stowasser
- M Stowasser
- M Stowasser
- M Stowasser
- M Stowasser
- M Stuiver
- M Takahashi
- M Wakabayashi
- M Zaffanello
- MC Sassen
- MC Vantyghem
- MC Zennaro
- MC Zennaro
- MD Lalioti
- MD Tobin
- ME Rafestin-Oblin
- MF Attie
- MF Michelis
- MG Bianchetti
- MH Tseng
- MH Vaisbich
- MI New
- MI New
- MI New
- MJ Nadler
- MP Ryan
- MP Whyte
- MR Berry
- MR Pollak
- MR Pollak
- MY Monette
- N Demoulin
- N Godefroid
- N Jeck
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- N Miyamura
- N Nomura
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- N Sukor
- N Takahashi
- NA Haas
- NV Knoers
- O Andrini
- O Devuyst
- O Edelheit
- O Kifor
- O Staub
- P Gal
- P Jest
- P Meneton
- P Mulatero
- P Mulatero
- P Mulatero
- P Mulatero
- P Robitaille
- P San-Cristobal
- P Sartorato
- P Sartorato
- PA Swift
- PA Welling
- PE Foglia
- PG Starremans
- PG Starremans
- PJ Milla
- PJ Schultheis
- PM Mathew
- PM Snyder
- PM Stewart
- PM Stewart
- PW Speiser
- Q Tu
- R Acuña
- R Birkenhager
- R Estevez
- R Greger
- R Jalkanen
- R Kleta
- R Koshida
- R Taugner
- R Vargas-Poussou
- R Vargas-Poussou
- R Vargas-Poussou
- R Westland
- RA Schwalbe
- RA Shimkets
- RA Sutton
- RC Wilson
- RD Gordon
- RD Gordon
- RF Reilly
- RF Reilly
- RG Morris
- RM Zettle
- RO Vigier von
- RP Lifton
- RS Vasan
- RT Pachulski
- RV Thakker
- RY Walder
- RY Walder
- S Adalat
- S Disse-Nicodeme
- S Faguer
- S Ferre
- S Fukuyama
- S Kitanaka
- S Kunchaparty
- S Monticone
- S Nielsen
- S Riazuddin
- S Sanjad
- S Uchida
- S Ulick
- S Ulick
- S Vanhaesebrouck
- S Waldegger
- S Waller
- S Watanabe
- S Weber
- SC Hebert
- SC Hebert
- SC Reinalter
- SC Reinalter
- SE Oberfield
- SH Lin
- SH Pearce
- SH Pearce
- SH Walker
- SH Walker
- SJ Marx
- SJ Schurman
- SJ Schurman
- SK Srinivas
- SL Blethen
- SS Chang
- SS Shankar
- SS Strautnieks
- SS Yang
- T Bourcier
- T Carling
- T Guran
- T GĂĽnther
- T Hirano
- T Mune
- T Netzer
- T Nijenhuis
- T Nijenhuis
- T Nijenhuis
- T Tsukamoto
- T Voets
- T Watanabe
- T Watanabe
- T Yang
- TH Lindner
- TJ Jentsch
- TM Brennan
- TP Cappola
- TP Flagg
- TP Foley Jr
- U Gladziwa
- U Kuhnle
- U Schulte
- UI Scholl
- UI Scholl
- UI Scholl
- V Benigno
- V Chubanov
- V Chubanov
- V Ertekin
- V GarcĂa-Nieto
- V Medeau
- VE Torres
- VV Ranade
- W Ji
- W Proesmans
- W Wang
- W Wong
- WB Geven
- WB Geven
- WM Groenestege
- WM Groenestege
- WR Litchfield
- WR Litchfield
- X Jeunemaitre
- Y Horikawa
- Y Ito
- Y Kokubo
- Y Kotelevtsev
- Y Matsumura
- Y Ohba
- Y Sardani
- Y Takeuchi
- YF Lo
- YH Chou
- YW Jeske
- ZS Agus
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2016
- Field of study
Rivaroxaban or aspirin for patent foramen ovale and embolic stroke of undetermined source: a prespecified subgroup analysis from the NAVIGATE ESUS trial
- Author
- A Adami
- A Ali
- A Amelia Pinto
- A Arauz
- A Bacellar
- A Balazs
- A Baranowska
- A Barulin
- A Beinlich
- A Belkin
- A Benjamin
- A Cavallini
- A Chakrabarti
- A Chamorro
- A Corlobe
- A Csanyi
- A Czlonkowska
- A Daineko
- A Danese
- A De Havenon
- A De Pauw
- A De Smedt
- A Del Giudice
- A Dávalos
- A Favate
- A Fedin
- A Ferreira
- A Filipov
- A Firstenfeld
- A Fraczek
- A Friedman
- A Furlan
- A Gallina
- A Garcia Pastor
- A Gil Nunez
- A Glabinski
- A Gomes Neto
- A Gueguen
- A Hajas
- A Hassan
- A Hatzitolios
- A Horev
- A Irina Aniculaesei
- A Jagolino
- A Jun-Oconnell
- A Katalin Iljicsov
- A Kei
- A Khanna
- A Khaw
- A Kobayashi
- A Koutroubi
- A Kulakowska
- A Kuris
- A Lago
- A Landolfi
- A Lasek-Bal
- A Leger
- A Lindgren
- A Lord
- A Lvova
- A Mackey
- A Magadan
- A Mahagney
- A Majid
- A Majjhoo
- A Maria Lorenzo
- A Maria Roa
- A Matoltsy
- A Maud
- A Mayr
- A Mensch
- A Mismas
- A Mistri
- A Moey
- A Molis
- A Morales
- A Mowla
- A Murtuzova
- A Nave
- A Obrezan
- A Odyniec
- A Papagiannis
- A Penn
- A Persico
- A Pidal
- A Pieroni
- A Polyakov
- A Polymeris
- A Poppe
- A Radtke
- A Rani
- A Rasheed Nihara
- A Renu
- A Rocco
- A Rodriguez Campello
- A Roldan
- A Ruiz Franco
- A Sabet
- A Sarraj
- A Sas
- A Semerano
- A Sharrief
- A Shmonin
- A Shoamanesh
- A Shuaib
- A Shulga
- A Simpkins
- A Smolkin
- A Smyth
- A Sobota
- A Stoll
- A Stumpp
- A Szekely
- A Tamayo
- A Tapanainen
- A Tayal
- A Terentiou
- A Thomson
- A Tinchon
- A Tountopoulou
- A Trommer
- A Tutaj
- A Valikovics
- A Vasco Salgado
- A Vila
- A Wach-Klink
- A Wacongne
- A Winkler
- A Winska-Tereszkiewicz
- A Wisniewska
- A Wlodek
- A Wojnarowska-Arendt
- A Wong
- A Ximenez-Carrillo
- A Yongwon Jin
- A Zitzmann
- AA Arauz Gongora
- AA Silva
- AB Constantino Silva
- AK Amjad
- AM Iglesias Mohedano
- Anderson
- Arne Lindgren
- Ashkan Shoamanesh
- B Blazejewska-Hyzorek
- B Buck
- B Cheripelli
- B Clissold
- B Coull
- B Delpont
- B Elena Halac
- B Escribano
- B Esisi
- B Essa
- B Fuentes Gimeno
- B Guillon
- B Hobson
- B Huber
- B Joachim
- B Kaczorowska
- B Lajos
- B Lara Rodriguez
- B Lohninger
- B Luo
- B Matosevic
- B Mehta
- B Mendez
- B Miller
- B Modrau
- B Nazliel
- B Norrving
- B Nowak
- B Piechowski-Jozwiak
- B Prendl
- B Rizzato
- B Sanz Cuesta
- B Singh
- B Sliwinska
- B Voglsperger
- B Weller
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- B Yalo
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- Balakumar Swaminathan
- BC Lee
- Berthet
- Burke
- BW Yoon
- C Anderson
- C Barroso
- C Batista
- C Beilei
- C Blanc-Labarre
- C Blank
- C Brokalaki
- C Canepa
- C Carcel
- C Cereda
- C Che
- C Constantin
- C Correia
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- C Delcourt
- C Figueroa
- C Guidoux
- C Holmstedt
- C Hoyer
- C Joyner
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- C Khoumri
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- C Kremer
- C Lamy
- C Loomis
- C Ma
- C Machado
- C Manno
- C Marando
- C Marini
- C Mario Torres
- C Minelli
- C Molina
- C Monosi
- C Moro
- C Muhl
- C Murphy
- C Ovesen
- C Padiglioni
- C Pozzerese
- C Ramos-Estebanez
- C Richard
- C Rinaldi
- C Riveira Rodriguez
- C Roesler
- C Roffe
- C Rosso
- C Rostrup Kruuse
- C Rozsa
- C Sabben
- C Savopoulos
- C Sila
- C Soriano
- C Togay Isikay
- C Toloza
- C Tossavainen
- C Veronica Simonsini
- C Vilar
- C Willems
- C Wilson
- C Wolter
- C Yegappan
- C Zanferrari
- C Zhang
- CE Medina Pech
- CG Cantu Brito
- CJ Schwarzbach
- CS Chung
- D Abdul Rahman
- D Andreu
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- D Blacquiere
- D Bruce
- D Calvet
- D Castro
- D Chandrasena
- D Cohen
- D Collas
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- D Damgaard
- D Dossi
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- D Eveson
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- D Ghia
- D Giannandrea
- D Gladstone
- D Goldemund
- D Green
- D Greer
- D Hargroves
- D Herrero
- D Huang
- D Kemlink
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- D Kleindorfer
- D Krajickova
- D Kucken
- D Lopes
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- D Mehta
- D Mircea
- D Morar-Precup
- D Navaratnam
- D Peters
- D Popov
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- D Sagris
- D Sanak
- D Selcuk
- D Semushina
- D Silva
- D Sinha
- D Spence
- D Tanne
- D Tenora
- D Thaler
- D Tirschwell
- D Toni
- D Tropepi
- D Tryambake
- D Uluduz Ugurlu
- D Vaclavik
- D Walters
- D Wang
- D Werring
- D Zboznovits
- DC Anderson
- DG Wyse
- DI Chang
- Di Tullio
- DL Demets
- E Anagnostou
- E Azevedo
- E Bodiguel
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- E Campos Costa
- E Candeloro
- E Chiquete Anaya
- E Clemente Agostoni
- E Cortijo Garcia
- E Diez-Tejedor
- E Dorodnicov
- E Ehrensperger
- E France
- E Gabriel Reich
- E Galli Giqueauk
- E Gallinella
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