7 research outputs found
Lésion unilatérale idiopathique en taches léopard de l’épithélium pigmentaire : une complication fibrogliale tractionnelle
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
Traitement des choriorétinopathies séreuses centrales par photothérapie dynamique
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
The role of biopsy in lacrimal gland inflammation: A clinicopathologic study
- Author
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study
Les lymphomes malins non hodgkiniens conjonctivo-orbitaires
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
Novel FH mutations in families with hereditary leiomyomatosis renal cell cancer (HLRCC) and in patients with isolated type 2 papillary renal cell carcinoma
- Author
- A. Mejean
- A. Remenieras
- A. Slama
- B. B.-d. Paillerets
- B. Escudier
- B. Gardie
- B. Gilbert-Dussardier
- B. McGilliwray
- B. Poppe
- B. T. Teh
- C. Cremin
- C. Dugast
- C. Maugard
- C. Pruvost-Balland
- C. Theodore
- D. Bessis
- D. Kattygnarath
- D. Leroux
- D. Lipsker
- E. Van Glabeke
- F. Caux
- F. Malthieu
- G. Lenoir
- G. Plessis
- H. Dollfus
- I. Coupier
- I. Mortemousque
- J. Bombled
- J. Feunteun
- J. Roume
- J.-B. Meric
- L. Faivre
- L. Thomas
- M. Barrois
- M. Field
- M. Steinraths
- M.-F. Avril
- M.-H. Tan
- N. Janin
- N. Soufir
- null null
- O. Caron
- P. Collignon
- P. Rustin
- P. Vabres
- S. Deveaux
- S. Lefevre
- S. Richard
- S. Rooker
- V. Cusin
- V. Joulin
- V. Perrier-Trudova
- V. Verkarre
- Y. Leport
- Publication venue
- 'BMJ'
- Publication date
- 01/01/2011
- Field of study
International audienceBackground Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder predisposing humans to cutaneous and uterine leiomyomas; in 20% of affected families, type 2 papillary renal cell cancers (PRCCII) also occur with aggressive course and poor prognosis. HLRCC results from heterozygous germline mutations in the tumor suppressor fumarate hydratase (FH) gene. Methods As part of the French National Cancer Institute (INCa) "Inherited predispositions to kidney cancer" network, we performed sequence analysis and a functional study of FH in 56 families with clinically proven or suspected HLRCC and in 23 patients with isolated PRCCII (5 familial and 18 sporadic). Results We identified 32 different germline FH mutations (15 missense, six frameshifts, four nonsense, one deletion/insertion, five splice site and one complete deletion) in 40/56 (71.4%) families with proven or suspected HLRCC and in 4/23 (17.4%) probands with PRCCII alone, including 2 sporadic cases. Twenty-one of these were novel and all were demonstrated as deleterious by significant reduction of FH enzymatic activity. In addition, five asymptomatic parents in three families were confirmed as carrying disease-causing mutations. Conclusions This study identified and characterized 21 novel FH mutations and demonstrated that PRCCII can be the only one manifestation of HLRCC. Due to the incomplete penetrance of HLRCC, we propose to extend the FH mutation analysis to every patient with PRCCII occurring before 40 yrs of age or when renal tumor harbors characteristic histologic features, in order to discover previously ignored HLRCC-affected families
Randomized, Sham-Controlled Trial of Dexamethasone Intravitreal Implant in Patients with Macular Edema Due to Retinal Vein Occlusion
- Author
- Aaberg TM
- Abraham P
- Abujamra S
- Acton J
- Adamczyk Ludyga A
- Adenwalla M
- Agahigian DD
- Agoas V
- Aguilar Mendoza M
- Aisenbrey S
- Alam S
- Albiani D
- Alexandrescu B
- Alfaiate MM
- Allam S
- Almeida HP
- Anagnoste S
- Anand R
- Anderson N
- Andreas R
- Antoszyk A
- Armogan N
- Arnold J
- Ash D
- Atlas WG
- Augustin JA
- Awh C
- Azzolini C
- Babkova B
- Bakri SJ
- Banach MJ
- Bandello F
- Bandello F
- Barak A
- Barile G
- Barker D
- Barnard T
- Bartz Schmidt KU
- Baumal C
- Bedrich P
- Beer P
- Belfort R. Jr
- Bellini L
- Benner J
- Benson W
- Benz M
- Berger B
- Bergren R
- Bharadwaj A
- Bhavan S
- Bhavsar A
- Binder S
- Biondi A
- Bishop F
- Blair N
- Blinder K
- Blumenkranz M
- Blumenkranz MS
- Bohm A
- Boldrey EE
- Bornfeld N
- Borrillo JL
- Boyer D
- Bradford R
- Bridges W
- Brigatti L
- Briggs M
- Brooks HL Jr
- Brown D
- Browning A
- Browning D
- Brunner S
- Brunnerova R
- Brydak Godowska J
- Buettner H
- Burns J
- Burrows AF
- Busbee B
- Butner R
- Butter J
- Byrnes G
- Callahan C
- Campochiaro P
- Cano Hildalgo RA
- Canziani T
- Capone A
- Carmichael T
- Carnevale K
- Casella AM
- Casey R
- Castanheira Dinis A
- Celis B
- Chambers R
- Chang S
- Chang YH
- Chechik D
- Chee SP
- Chen E
- Chen E
- Chen JT
- Chen JT
- Chen S
- Chen SN
- Cheng B
- Chiquet C
- Chong K
- Chong LP
- Chong V
- Chou T
- Chow V
- Chrapek O
- Chu T
- Chua J
- Chun D
- Chung HW
- Cialdini AP
- Ciancas E
- Cihelkova I
- Cisiecki S
- Clark W
- Cleary T
- Coco R
- Codenotti M
- Cohen BZ
- Cohen J
- Cohen JA
- Connolly B
- Conway B
- Cook H
- Cooper B
- Coors L
- Corwin J
- Costa JR
- Cottrell D
- Couvillion S
- Craig J
- Cruess A
- Cupo G
- d'Heurle D
- D'Sousa Y
- Dabbs T
- Danesh S
- Davidorf F
- Davis J
- de Avila MP
- De Cilla S
- De Fazio R
- de la Fuente MA
- de la Rua ER
- De Mattia M
- de Melo CS
- de Moraes NI
- de Oliveira TL
- Deen A
- Del Priore L
- Delyfer MN
- Deuter C
- Devadason DS
- Devenyi R
- Dickinson J
- Doft B
- Dooner J
- Doubell D
- Downie J
- Drenser K
- Dreyer R
- Du T
- Duarte L
- DuBiner HB
- Dubovy S
- Dubska Z
- Dugel P
- Dunn W
- Dusova J
- Dvorak J
- Dyer D
- Dziegielewska K
- Earl M
- Egan C
- Eichenbaum D
- Eifrig C
- El Shabrawi Y
- Ells A
- Elsherbiny S
- Engel H
- Engelbrecht N
- Ernest J
- Essex R
- Eter N
- Evans R
- Fakadej A
- Falcone P
- Fan D
- Fan JT
- Farah ME
- Farah S
- Feiner L
- Feldman RM
- Ferencz J
- Fernandez Vega Sanz A
- Ferreira JL
- Figueira J
- Fineman M
- Fiser I
- Fish G
- Fish RH
- Fishburne B
- Fisher SJ
- Fitzsimons R
- Flaxel C
- Fletcher E
- Flores Aguilar M
- Florez S
- Flynn H
- Fogarty S
- Folgado A
- Foster BS
- Fox GM
- Frambach D
- Fransen S
- Fraser Bell S
- Frederick A
- Freeman W
- Freisberg L
- Friedman E
- Friedman L
- Fucik M
- Fuller DG
- Gaitan J
- Gallemore R
- Gallogly P
- Garcia Arumi J
- Garg S
- Garg S
- Garretson B
- Gastaud P
- Gaudric A
- Gawrilow P
- Gehlbach PL
- Geyer O
- Ghuman AT
- Giansanti F
- Gil AL
- Gilbert HD
- Gillies M
- Gillies M
- Girmens JF
- Gis\ue8le P
- Giubilato A
- Glacet Bernard A
- Glaser D
- Glatzer R
- Goldstein D
- Gomes AM
- Gon Yu H
- Gon\ue7alves FP
- Gonzales C
- Googe J
- Gopal L
- Gordon A
- Gous P
- Grand M
- Grandao Magro PC
- Granero Riano M
- Grassi M
- Green J
- Green S
- Gregor Z
- Gregori N
- Grizzard WS
- Groenewald C
- Gross JG
- Gross NE
- Gruber A
- Grutow G
- Guillet E
- Gyorgyova D
- Haas A
- Haas K
- Hadden P
- Hagemann L
- Hainsworth D
- Haivala D
- Haller J
- Haller JA
- Halperin L
- Hamer P
- Hammer M
- Han D
- Handa JT
- Handelman I
- Handza J
- Harder B
- Harding S
- Hariprasad SM
- Hartley K
- Hartman P
- Hartnett ME
- Harvey P
- Hassan T
- Headon M
- Heier J
- Heier J
- Hejsek L
- Higgins P
- Hillenkamp J
- Ho A
- Ho T
- Holekamp N
- Holz E
- Holz F
- Hooper P
- Hopkins JJ
- Hoskin Mott A
- Hoskins J
- Hrisomalos N
- Hsu J
- Hubbard B. 3rd
- Hudson H
- Hughes E
- Hunt A
- Hunyor A
- Hwang JF
- Hwang T
- Ibarra M
- Incarnato N
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- Introini U
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- Jack RL
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- Joseph D
- Joshi M
- Jost B
- Jurklies B
- Kaincova I
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- Kalvodova B
- Kamppeter B
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- Kecik D
- Kellaway J
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- Kingsley R
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- Klemperer I
- Kociecki J
- Korbasova M
- Korda V
- Korobelnik JF
- Koshy Z
- Kostamaa H
- Kovach J
- Kozak I
- Kozousek V
- Krasny J
- Kreiger A
- Krivosic V
- Krug JV Jr
- Kruger L
- Kunimoto D
- Kuppermann BD
- Kurtz R
- Kuznik Borkowska A
- Lai J
- Lai W
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- Lalwani G
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- Lanning RC
- LANZETTA Paolo
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- Lattanzio R
- Lavina A
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- Lazzaroni F
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- Leff S
- Lehr J
- Lenfesty P
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- Lobes LA
- Loewenstein A
- Loose I
- Lottenberg CL
- Loutchkina D
- Lu DW
- Lubczynska A
- Lujan B
- Lyssek Boron A
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- Madhusudhana KC
- Madreperla S
- Magee M
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- Maia Ode O. Jr
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- Massaoutis P
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- Mazur Michalek I
- McAllister I
- McCabe F
- McCannel CA
- McGimpsey S
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- McKibbin M
- McLean WC Jr
- McMillan T
- Meireles R
- Menchini U
- Meredith T
- Merrill P
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- Mieler WF
- Migliavacca L
- Miller D
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- OZURDEX GENEVA Study Group
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- Tsang CW
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- Uhmannova R
- Ulanski L. 2nd
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- Varano M
- Vavvas D
- Vega Sanz BF
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- Weidman F. 3rd
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- Weisz JM
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- Publication venue
- Publication date
- 01/01/2010
- Field of study
Dexamethasone Intravitreal Implant in Patients with Macular Edema Related to Branch or Central Retinal Vein Occlusion
- Author
- Aaberg TM
- Abraham P
- Abujamra S
- Acton J
- Adamczyk Ludyga A
- Adenwalla M
- Agahigian DD
- Agoas V
- Aguilar Mendoza M
- Aisenbrey S
- Alam S
- Albiani D
- Alexandrescu B
- Alfaiate MM
- Allam S
- Almeida HP
- Anagnoste S
- Anand R
- Anderson N
- Antoszyk A
- Armogan N
- Arnold J
- Arumi JG
- Ash D
- Atlas WG
- Augustin JA
- Awh C
- Azzolini C
- Babkova B
- Bakri SJ
- Banach MJ
- Bandello F
- Bandello F
- Barak A
- Barile G
- Barker D
- Barnard T
- Bartz Schmidt KU
- Battaglia Parodi M
- Baumal C
- Bedrich P
- Beer P
- Belfort Mattos Junior R
- Belfort R. Jr
- Bellini L
- Benner J
- Benson W
- Benz M
- Berger B
- Bergren R
- Bharadwaj A
- Bhavan S
- Bhavsar A
- Binder S
- Biondi A
- Bishop F
- Blair N
- Blinder K
- Blumenkranz M. S
- Blumenkranz M
- Bohm A
- Boldrey EE
- Bornfeld N
- Borrillo JL
- Boyer D
- Bradford R
- Bridges W
- Brigatti L
- Briggs M
- Brooks HL Jr
- Brown D
- Browning A
- Browning D
- Brunner S
- Brunnerova R
- Bryan JS
- Brydak Godowska J
- Buettner H
- Burns J
- Burrows AF
- Busbee B
- Butner R
- Butter J
- Byrnes G
- Callahan C
- Campochiaro P
- Cano Hildalgo RA
- Canziani T
- Capaccioli K
- Capone A
- Carmichael T
- Carnevale K
- Casella AM
- Casey R
- Castanheira Dinis A
- Celis B
- Chambers R
- Chang S
- Chang YH
- Chechik D
- Chee SP
- Chen E
- Chen E
- Chen JT
- Chen S
- Chen SN
- Cheng B
- Chiquet C
- Chong K
- Chong LP
- Chong V
- Chou T
- Chow V
- Chrapek O
- Chu T
- Chua J
- Chun D
- Chung HW
- Cialdini AP
- Ciancas E
- Cihelkova I
- Cisiecki S
- Clark W
- Cleary T
- Coco R
- Codenotti M
- Cohen BZ
- Cohen J
- Cohen JA
- Connolly B
- Conway B
- Cook H
- Cooper B
- Coors L
- Corwin J
- Costa JR
- Cottrell D
- Couvillion S
- Craig J
- Cristina P
- Cruess A
- d'Heurle D
- D'Sousa Y
- Dabbs T
- Danesh S
- Davidorf F
- Davis J
- de \uc1vila MP
- De Cilla S
- De Fazio R
- de la Fuente MA
- de la Rua ER
- De Mattia M
- de Melo CS
- de Moraes NI
- de Oliveira TL
- Deen A
- Del Priore L
- Delyfer MN
- Deuter C
- Devadason DS
- Devenyi R
- Dickinson J
- Doft B
- Dooner J
- Doubell D
- Downie J
- Drenser K
- Dreyer R
- Du T
- Duarte L
- DuBiner HB
- Dubovy S
- Dubska Z
- Dugel P
- Dunn W
- Dusova J
- Dvorak J
- Dyer D
- Dziegielewska K
- Earl M
- Egan C
- Eichenbaum D
- Eid Farah M
- Eifrig C
- El Shabrawi Y
- Ells A
- Elsherbiny S
- Engel H
- Engelbrecht N
- Ernest J
- Essex R
- Eter N
- Evans R
- Fakadej A
- Falcone P
- Fan D
- Fan JT
- Farah S
- Feiner L
- Feldman RM
- Ferencz J
- Fernandez Vega Sanz A
- Ferreira JL
- Figueira J
- Fineman M
- Fiser I
- Fish G
- Fish RH
- Fishburne B
- Fisher SJ
- Fitzsimons R
- Flaxel C
- Fletcher E
- Flores Aguilar M
- Florez S
- Flynn H
- Fogarty S
- Folgado A
- Foster BS
- Fox GM
- Frambach D
- Framme C
- Fransen S
- Fraser Bell S
- Frederick A
- Freeman W
- Freisberg L
- Friedman E
- Friedman L
- Fucik M
- Fuller DG
- Gaitan J
- Gallemore R
- Gallogly P
- Garg S
- Garg S
- Garretson B
- Gastaud P
- Gaudric A
- Gawrilow P
- Gehlbach PL
- Geyer O
- Ghuman AT
- Giansanti F
- Gilbert HD
- Gillies M
- Gillies M
- Girmens JF
- Giubilato A
- Glacet Bernard A
- Glaser D
- Glatzer R
- Goldstein D
- Gomes AM
- Gon Yu H
- Gon\ue7alves FP
- Gonzales C
- Googe J
- Gopal L
- Gordon A
- Gous P
- Grand M
- Granero Riano M
- Grassi M
- Green J
- Green S
- Gregor Z
- Gregori N
- Grizzard WS
- Groenewald C
- Gross JG
- Gross NE
- Gruber A
- Grutow G
- Guillet E
- Gupta A
- Gyorgyova D
- Haas A
- Haas K
- Hadden P
- Hagemann L
- Hainsworth D
- Haivala D
- Haller J
- Haller JA
- Halperin L
- Hamer P
- Hammer M
- Han D
- Handa JT
- Handelman I
- Handza J
- Harder B
- Harding S
- Hariprasad SM
- Hartley K
- Hartman P
- Hartnett ME
- Harvey P
- Hassan T
- Headon M
- Heier J
- Heier J
- Hejsek L
- Higgins P
- Hillenkamp J
- Ho A
- Ho T
- Holekamp N
- Holz E
- Holz F
- Hooper P
- Hopkins JJ
- Hoskin Mott A
- Hoskins J
- Hrisomalos N
- Hsu J
- Hubbard B. 3rd
- Hudson H
- Hughes E
- Hunt A
- Hunyor A
- Hwang JF
- Hwang T
- Ibarra M
- Incarnato N
- Inhetvin Hutter C
- Introini U
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- Islam N
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- Jablonski C
- Jack RL
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- Kalvodova B
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- Tsang CW
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- Uhmannova R
- Ulanski L. 2nd
- Ulinska M
- Urminsky J
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- Vaishnav H
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- Publication venue
- Publication date
- 01/01/2011
- Field of study