5 research outputs found
Diagnostic exome sequencing in 266 Dutch patients with visual impairment
- Author
- Boon C.J.F. (Camiel)
- Born L.I. (Ingeborgh) van den
- Breuning M.H. (Martijn)
- Castelein S. (Steven)
- Cremers F.P.M. (Frans)
- Haer-Wigman L. (Lonneke)
- Hagen J.M. (Johanna) van
- Hehir-Kwa J. (Jayne)
- Hoefsloot E.H. (Lies)
- Hoyng C.B. (Carel)
- Kievit A.J.A. (Anneke J.A.)
- Klaver C.C.W. (Caroline)
- Kroes H.Y. (Hester)
- Lelieveld S.H. (Stefan H.)
- Lugtenberg D. (Dorien)
- Nelen M.R. (Marcel)
- Pfundt R. (Rolph)
- Plomp A. (Astrid)
- Pott J.W.R.
- Sallevelt S.C.E.H. (Suzanne)
- Scheffer H. (Hans)
- Verheij J.B. (Joke)
- Verhoeven V.J.M. (Virginie)
- Yntema H.G.
- Zelst-Stams W.A. van
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/05/2017
- Field of study
Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis. In the vision gene panel analysis, variants in genes known to cause inherited eye disorders were assessed for pathogenicity. If no causative variants were detected and when the patient consented, the entire exome data was analyzed. A total of 266 Dutch patients with different types of inherited eye disorders, including inherited retinal dystrophies, cataract, developmental eye disorders and optic atrophy, were investigated. In the vision gene panel analysis (likely), causative variants were detected in 49% and in the exome analysis in an additional 2% of the patients. The highest detection rate of (likely) causative variants was in patients with inherited retinal dystrophies, for instance a yield of 63% in patients with retinitis pigmentosa. In patients with developmental eye defects, cataract and optic atrophy, the detection rate was 50, 33 and 17%, respectively. An exome-sequencing approach enables a genetic diagnosis in patients with different types of inherited eye disorders using one test. The exome approach has the same detection rate as targeted panel sequencing tests, but offers a number of advantages. For instance, the vision gene panel can be frequently and easily updated with additional (novel) eye disorder genes. Determination of the genetic diagnosis improved the clinical diagnosis, regarding the assessment of the inheritance pattern as well as future disease perspective
Observations on the Toxic Effects of Cordite
- Author
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Bronchiolitis from Nitrous Fumes
- Author
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Tumors and Tumor-like Lesions of the Colon, Rectum, Anus, and Perianal Region
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- A. Breslow
- A. Brom
- A. Eickhoff
- A. Fateh-Moghadam
- A. Fateh-Moghadam
- A. Gandio Del
- A. Gompel Van
- A. Hackelsberger
- A. Hauschild
- A. Hauschild
- A. Jäckel
- A. Lavergne
- A. Picciocchi
- A. Rashid
- A. Trupka
- A.D. Spigelman
- A.J. Cochran
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- C. Hartig
- C. Soravia
- C. Thibault
- C. Werdin
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- C.A. Pickens
- C.A. Tomeo
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- D. Podzamczer
- D. Provenzale
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- D.A. Greenwald
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- D.G.R. Evans
- Deutsche Krebsgesellschaft und ihre Arbeitsgemeinschaften Deutsche Gesellschaft für Chirurgie und Deutsche Gesellschaft für Verdauungs-und Stoffwechselkrankheiten
- Deutsche Krebsgesellschaft und ihre Arbeitsgemeinschaften Deutsche Gesellschaft für Chirurgie und Deutsche Gesellschaft für Verdauungs-und Stoffwechselkrankheiten
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- K.J. Goerg
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- K.R. Patel
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- Liver Infusion Meta-analysis Group
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- M.R. Camiel
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- The Non-Hodgkin’s Lymphoma Classification Project
- The Non-Hodgkin’s lymphoma pathologic classification project
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- UKCCCR Anal Cancer Trial Working Party
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2003
- Field of study
Differentiated Thyroid Cancer
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- A. Ayhan
- A. Bhansali
- A. Bokhari
- A. Campenni
- A. Casella
- A. Checrallah
- A. Coakley
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- M.P. Kumarasinghe
- M.P. Stokkel
- M.R. Carlisle
- M.S. Eledrisi
- M.S. Karlan
- M.S. Nam
- M.S. Vadmal
- M.T. Hays
- M.T. Hays
- M.T. Hays
- N. Alazaraki
- N. Arslan
- N. Botwood
- N. Nair
- N.A. Samaan
- N.D. Charkes
- N.D. Morell
- N.G. Rosenblum
- N.R. Thotakura
- N.W. Thompson
- O. [. Ozaki
- O. Alsanea
- O. Alsanea
- O. Alsanea
- O. Dohan
- O. Elshafie
- O. Esik
- O. Gimm
- O. Konez
- O. Thomusch
- O. Thomusch
- O. Ugur
- O.H. Clark
- P. Almeida-Filho
- P. Ladenson
- P. Lind
- P. Lind
- P. LoGerfo
- P. Matheja
- P. Miccoli
- P. Miccoli
- P. Miccoli
- P. Miccoli
- P. Mikosch
- P. Perros
- P. Perros
- P. Postgard
- P. Rotman-Pikielny
- P. Schraube
- P. Singer
- P.A. Nahn
- P.A. Smanik
- P.E. Voutilainen
- P.H. Willemse
- P.J. Owen
- P.K. Hui
- P.M. Leung
- P.N. Span
- P.P. Smyth
- P.S. Feldman
- P.T. Guidon Jr
- P.W. Clyde
- P.W. Grigsby
- R. Bergamaschi
- R. Bitton
- R. Burt
- R. Elisei
- R. Elisei
- R. Guglielmi
- R. Hoschl
- R. Houlston
- R. Jobran
- R. Preisman
- R. Rawson
- R. Rosenberg
- R. Utiger
- R. Zarnegar
- R.A. Dedivitis
- R.A. Dedivitis
- R.B. Dardik
- R.C. Rosenbaum
- R.D. Kempers
- R.D. Thomas
- R.E. Massine
- R.G. Jimenez
- R.G. Watson
- R.H. Caplan
- R.H. Young
- R.J. Robbins
- R.J. Robbins
- R.J. Robbins
- R.J. Robbins
- R.S. Benua
- R.S. Foster Jr.
- R.T. Boone
- R.W. Rees-Jones
- R.W. Tsang
- S. [. Nagamachi
- S. [. Sahraoui
- S. Bakheet
- S. Barrington
- S. Basaria
- S. Basaria
- S. Basu
- S. Bevan
- S. Christensen
- S. Fazio
- S. Fraser
- S. Fui
- S. Gulec
- S. Hertz
- S. Hertz
- S. Hyer
- S. Logani
- S. Mariotti
- S. Melmed
- S. Muherji
- S. Park
- S. Pilotti
- S. Prendiville
- S. Seidlin
- S. Sherman
- S. Sherman
- S. Uchino
- S. Venkatesh
- S. Wu
- S. Yasuda
- S.A. Aldasouqi
- S.A. Hundahl
- S.B. Kesmodel
- S.C. Ong
- S.D. Flynn
- S.D. Sarkar
- S.E. Naghavi
- S.F. Leung
- S.G. Patel
- S.I. Sherman
- S.J. Mandel
- S.J. Mandel
- S.J. Wang
- S.J. Wells
- S.K. Gerard
- S.L. Greenspan
- S.M. Bakheet
- S.M. Bakheet
- S.M. Bakheet
- S.M. Bose
- S.M. Seidlin
- S.M. Seidlin
- S.P. Cholewinski
- S.R. Ahmed
- S.R. Ahmed
- S.R. Gundry
- S.S. Koong
- S.S. Wadhwa
- S.T. Cha
- S.T. Zwas
- S.V. Doshi
- S.W. Chan
- S.Y. Wu
- T. [. Ishiguchi
- T. Goffman
- T. Gruning
- T. Hadjieva
- T. Hemmerling
- T. Llewellyn
- T. Misaki
- T. Misaki
- T. Pal
- T. Paterakis
- T. Petrich
- T. Reeve
- T. Seppel
- T. Taylor
- T.A. Mustoe
- T.C. Putti
- T.C. Putti
- T.C. Yen
- T.C. Yen
- T.H. Berquist
- T.H. Wang
- T.L. Johnson
- T.R. Shepler
- T.S. Alster
- U. Fiene
- U. Tazebay
- V. [. Sirichitra
- V. Fatourechi
- V. Fatourechi
- V. Fatourechi
- V. Guimaraes
- V. LiVolsi
- V. Maximo
- V. Rufini
- V.A. LiVolsi
- V.A. LiVolsi
- V.J. Lowe
- V.L. Spate
- W. Brenner
- W. Brenner
- W. Lees
- W. Pochis
- W. Sistrunk
- W. Spies
- W. Wang
- W. Wang
- W. Wang
- W. Yaakob
- W.A. Hawk
- W.A. Mill
- W.B. Kwan
- W.H. Beierwaltes
- W.I. Kuhel
- W.K. Tuttle 3rd
- W.R. Sackett
- W.R. Sackett
- W.Y. Lin
- Y. Hama
- Y. Ho
- Y. Iida
- Y. Nikiforov
- Y. Takeuchi
- Y. Tokuda
- Y.C. Chu
- Y.E. Nikiforov
- Y.J. Yang
- Z. Baloch
- Z. Baloch
- Z. Gulzar
- Z. Zhu
- Z.W. Baloch
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2006
- Field of study