6 research outputs found
Rothmund-Thomson syndrome
- Author
- A Beghini
- A Leonard
- A Rothmund
- A Shinya
- AR Mehollin-Ray
- B Gelaw
- B Kerr
- BS Kraus
- C Moss
- C Rizzari
- C Spurney
- CLM Van Hees
- CR Cabral
- CZ Bachrati
- DG Snels
- E Panigiani
- EM Vennos
- EM Vennos
- F Vasseur
- FH Sim
- G Roversi
- G Stinco
- Gaia Roversi
- H Dollfus
- H Kääriäinen
- H Rao
- HA Siitonen
- HA Siitonen
- HN Cole
- HS Blaustein
- J Piquero-Casals
- J Yang
- J Yin
- JE Cleaver
- JL Van Hove
- JM El-Khoury
- JR Potozkin
- K Ichikawa
- K Matsuno
- K Nishijo
- KA Knoell
- KH Orstavik
- KJ Ouyang
- KL Ying
- L Larizza
- L Van Maldergem
- L Van Maldergem
- L Volpi
- LA Pujol
- Lidia Larizza
- LL Wang
- LL Wang
- LL Wang
- LL Wang
- LL Wang
- LL Woo
- LM Burks
- Ludovica Volpi
- M Debeljak
- M Malanga
- M Miozzo
- M Petkovic
- M Tong
- M Varughese
- M Wang
- MA Broom
- MA Macris
- MB Mann
- MC Haytaç
- Mergarbane
- MJ Hicks
- MN Sangrithi
- MS Thomson
- NM Lindor
- NM Lindor
- P Balraj
- P Kumar
- P Reix
- PJ Smith
- R Buzzoni
- R Kellmayer
- RK Mak
- S Hanks
- S Kaufmann
- S Kitao
- S Kitao
- S Narayan
- S Sengupta
- S Sharma
- SG Grant
- SG Kant
- SJ Park
- SM Howell
- SR Werner
- T Dietschy
- TD Roinioti
- U Otsu
- VA Currall
- VM Der Kaloustian
- W Fan
- W Jin
- WB Taylor
- WM Porter
- X Xu
- Y Hilhorst-Hofstee
- Y Hoki
- Y Kumata
- Y Sznajer
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
On a constitutive equation of heat conduction with fractional derivatives of complex order
- Author
- A Compte
- A Morro
- AA Kilbas
- AM Cohen
- B Straughan
- DD Joseph
- DD Joseph
- ER Love
- I Müller
- I Podlubny
- J Crank
- M Atanackovic
- M Atanackovic
- M Fabrizio
- M Fabrizio
- M Ostoja-Strarzewski
- N Macris
- N Makris
- N Makris
- RJ Swenson
- S Ende von
- SG Samko
- Stevan Pilipovic
- Teodor M. Atanackovic
- TM Atanackovic
- TM Atanackovic
- TM Atanackovic
- TM Atanackovic
- TM Atanackovic
- VA Cimmelli
- WA Day
- Y Povstenko
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes
- Author
- A Beghini
- A Mégarbané
- A Rothmund
- Chantal Dangoisse
- EM Vennos
- FR Vargas
- France Ziereisen
- Gaia Roversi
- H Kääriäinen
- H. Annika Siitonen
- HA Siitonen
- K Jam
- L Larizza
- L Maldergem Van
- L Maldergem Van
- LA Pujol
- Lidia Larizza
- LL Wang
- LL Wang
- LL Wang
- M Miozzo
- M Petkovic
- M Tong
- MA Broom
- MA Macris
- Marjo Kestilä
- Michèle Scaillon
- NM Lindor
- NM Lindor
- P Balraj
- P Mohaghegh
- P Mohaghegh
- R Kellermayer
- S Kitao
- S Kitao
- S Thomson
- SG Kant
- Sylvie Tenoutasse
- WB Taylor
- Y Hilhorst-Hofstee
- Yves Sznajer
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
The mutation spectrum in RECQL4 diseases
- Author
- A Beghini
- A Megarbane
- A Rothmund
- Abdelmadjid Benmansour
- Ajoy Sarkar
- Alain Verloes
- Barbara Crandall
- CZ Bachrati
- Denise Herzog
- Fernando R Vargas
- FR Vargas
- H Annika Siitonen
- H Kääriäinen
- HA Siitonen
- Helena Kääriäinen
- J Yin
- Jenni Sotkasiira
- K Hanada
- K Ichikawa
- K Jam
- Katariina Hannula-Jouppi
- Kathelijn Keymolen
- KW Gripp
- KW Gripp
- L Van Maldergem
- L Van Maldergem
- LA Pujol
- Lisa L Wang
- LL Wang
- LL Wang
- LL Wang
- LM Burks
- M Miozzo
- M Petkovic
- M Tong
- MA Broom
- MA Macris
- Marita Lipsanen-Nyman
- Marjo Kestilä
- Martine Biervliet
- MB Mann
- MM Cohen Jr
- MN Sangrithi
- MS Thomson
- NM Lindor
- NM Lindor
- P Balraj
- P Galea
- Peter Miny
- R Kellermayer
- Raoul Hennekam
- S Kitao
- S Kitao
- S Sharma
- SG Kant
- Sharon E Plon
- Stefan Riedl
- Valerie Cormier-Daire
- WB Taylor
- Y Hilhorst-Hofstee
- Y Hoki
- Y Sznajer
- Yline Capri
- Publication venue
- Nature Publishing Group
- Publication date
- 01/01/2008
- Field of study
Mutations in the RECQL4 gene can lead to three clinical phenotypes with overlapping features. All these syndromes, Rothmund-Thomson (RTS), RAPADILINO and Baller-Gerold (BGS), are characterized by growth retardation and radial defects, but RAPADILINO syndrome lacks the main dermal manifestation, poikiloderma that is a hallmark feature in both RTS and BGS. It has been previously shown that RTS patients with RECQL4 mutations are at increased risk of osteosarcoma, but the precise incidence of cancer in RAPADILINO and BGS has not been determined. Here, we report that RAPADILINO patients identified as carriers of the c.1390+2delT mutation (p.Ala420_Ala463del) are at increased risk to develop lymphoma or osteosarcoma (6 out of 15 patients). We also summarize all the published RECQL4 mutations and their associated cancer cases and provide an update of 14 novel RECQL4 mutations with accompanying clinical data.European Journal of Human Genetics (2009) 17, 151-158; doi:10.1038/ejhg.2008.154; published online 20 August 2008
Sensitivity of RECQL4-deficient fibroblasts from Rothmund–Thomson syndrome patients to genotoxic agents
- Author
- A Blank
- A Shinya
- AD Auerbach
- AM Rodriguez-Lopez
- B Zelle
- CE Yu
- CZ Bachrati
- F Vasseur
- FM Hisama
- G Aubel-Sadron
- HA Siitonen
- Hao Liu
- JM Sidorova
- JT Dunnen den
- K Hanada
- KK Dhillon
- L Larizza
- L Maldergem Van
- Lisa L. Wang
- LL Wang
- LL Wang
- LL Woo
- LM Burks
- LP Martin
- M Honma
- M Lebel
- M Miozzo
- M Petkovic
- M Poot
- M Poot
- MA Macris
- MB Bagherieh-Najjar
- MJ Hicks
- MN Sangrithi
- NA Ellis
- NA Franken
- NM Lindor
- PJ Smith
- PJ Smith
- PR Prince
- RY Tamminga
- S Kitao
- SG Grant
- Sharon E. Plon
- SJ Park
- SL Davies
- SL Davies
- SR Werner
- Subhendu K. Otta
- T Dietschy
- T Nunoshiba
- Weidong Jin
- Y Hoki
- Y Kumata
- Yiqun Zhang
- ZH Miao
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Urticaria, Strophulus, Prurigo, Pruritus
- Author
- A Alexander
- A Amicis de
- A Becker
- A Besselmann
- A Botteri
- A Breit
- A Carteaud
- A Castellani
- A Castellani
- A Civatte
- A Civatte
- A Civatte
- A Civatte
- A Desaux
- A Dietrich
- A Dostrowsky
- A Dupont
- A Dupont
- A Fejer
- A Greither
- A Greither
- A Herxheimer
- A Jarisch
- A Labhardt
- A Lundberg
- A Lundberg
- A Lundberg
- A Lundberg
- A Lützenkirchen
- A Lützenkirchen
- A Marchionini
- A Marchionini
- A Midana
- A Midana
- A Midana
- A Midana
- A Midana
- A Mugler
- A Musger
- A Noguer-Moré
- A Perutz
- A Perutz
- A Potvin
- A Proebsting
- A Rajka
- A Rajka
- A Rajka
- A Rajka
- A Robledo-Ramon
- A Rook
- A Rostenberg
- A Rudy
- A Rusk
- A Scheffler
- A Straszynski
- A Straszynski
- A Sturm
- A Stühmer
- A Sézary
- A Touraine
- A Tzanck
- A Tzanck
- A Walzer
- A Walzer
- A Walzer
- A Walzer
- A Walzer
- A Walzer
- A Walzer
- A Wiedmann
- A Yale
- AA Botter
- AC Ivy
- AE Klein
- AG Alarcon
- AH Rowe
- AJ Cantor
- AJ Cantor
- AJ Fink
- AJ Fink
- AJ Neumann
- AJ Neumann
- AL Lorincz
- AM Chvarzblatt
- AM Kirchdorfer
- AM Memmesheimer
- AT Zavaleta
- AW Young
- B Binda
- B Gomperz
- B Haskel
- B Kraft
- B Pontoppidan
- B Pontoppidan
- B Samilov
- B Samilov
- B Shaffer
- B Shaffer
- B Shaffer
- Bahler
- BC Tate
- Berger
- Beyerhaus
- BH Swift
- BHU Mohrmann
- BHU Mohrmann
- Bishop
- Bošnjaković
- Bošnjaković
- Brick
- BT Horton
- BT Horton
- BT Horton
- BZ Rappaport
- C Benjamins
- C Böhm
- C Böhm
- C Böhm
- C Böhm
- C Bühring
- C Doucas
- C Doucas
- C Flandin
- C Flandin
- C Flandin
- C Grupper
- C Kreibich
- C Kreibich
- C Lutz
- C Moncorps
- C Nejedly
- C Nejedly
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- C Pinedo
- C Pisacane
- C Portes
- C Portes
- C Rasch
- C Simon
- C Simon
- C Simon
- C Stajano
- C Wetzler-Ligeti
- C-L Karrenberg
- C-L Karrenberg
- CA Consigli
- CA Consigli
- CC Tucker
- CC Tucker
- CD Kennedy
- CE Benjamins
- CH Smith
- CH Smith
- CI Parhon
- CJ Drueck
- Cloutier
- CR Rein
- CS Wright
- D Adlersberg
- D Arguelles-Casals
- D Calandra
- D Dedering
- D Kenedy
- D Kenedy
- D Kenedy
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- D Krasnow
- D Krasnow
- D Kuncz
- D Kuncz
- D Lohmann
- DL Baxter
- DM Pillsburry
- DM Pillsburry
- DT Graham
- E Brumpt
- E Bruun
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- E Bruun
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- E Ciambelotti
- E Deutsch
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- E Elst
- E Epstein
- E Frank
- E Hachez
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- E Joltrain
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- E Meier
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- E Petráček
- E Pritchard
- E Rajka
- E Rajka
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- E Rubaltelli
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- E Tonijan
- E Urbach
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- E Urbach
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- E Urbach
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- PH Janson
- Pisani
- PM Salkan
- PM Salkan
- PV Marcussen
- PV Marcussen
- PW Koschewnikow
- PW Nikolskij
- R Aron-Brunetlère
- R Bernard
- R Bernard
- R Blamoutier
- R Bory
- R Bowen
- R Brett
- R Brett
- R Chamard
- R Degos
- R Degos
- R Degos
- R Degos
- R Degos
- R Hallam
- R Hallam
- R Junet
- R Lürija
- R Lürija
- R Mallet
- R Mallet
- R Martinez-Pérez
- R Martinez-Pérez
- R Martinez-Pérez
- R Martinez-Pérez
- R Mathieu
- R Nothaas
- R Randoph
- R Schuppli
- R Seletz
- R Tommasoli
- R Trauner
- R Turell
- R Turell
- R Turell
- R Turell
- R Turell
- R-J Weissenbach
- R-J Weissenbach
- RA Bolam
- RA Scarborough
- RC Low
- RDG Simons
- RF Foster
- RG Bickford
- RH Rulison
- RJ Malykin
- RJ Malykin
- RL Baer
- RL Sutton
- RL Sutton
- RL Sutton Jr.
- RM Bohnstedt
- RM Bohnstedt
- RN Andrade
- RN Andrade
- RN Andrade
- RN Andrade
- RO Grant
- Rosmarin
- Rousset
- RP Arthur
- RP Arthur
- RP Arthur
- RR Sonnenschein
- RT Brain
- Ruppert
- S Bommer
- S Borelli
- S Borelli
- S Borelli
- S Bošnjaković
- S Dymnicki
- S Epple
- S Epstein
- S Goldblatt
- S Hermans
- S Julma
- S Kapuszinski
- S Kapuszinski
- S Kitamura
- S Kitamura
- S Lavergne
- S Monash
- S Oba
- S Oba
- S Progulski
- S Rothman
- S Rothman
- S Rothman
- S Rothman
- S Rothman
- S Wolff
- S Wolfram
- SA Dischko
- SC Kasdon
- Schmidt
- Schönstein
- Schürer-Waldheimsen
- SD Manheim
- SF Ortega
- SF Ortega
- SG Macris
- SJ Taub
- SJ Zakon
- SL Moschella
- SM Peck
- SR Perrin
- SS Greenbaum
- SS Greenbaum
- SS Greenbaum
- Strazza
- Stritzler
- Surace
- SW Becker
- T Davies
- T Gaines
- T Inderbitzin
- T Inderbitzin
- T Inderbitzin
- T Kambara
- T Kambara
- T Kambayashi
- T Marti
- T Nisiwaki
- T Nisiwaki
- T Nisiwaki
- T Nisiwaki
- T Nisiwaki
- T Nisiwaki
- T Nisiwaki
- T Nisiwaki
- T Nisiwaki
- T Nisiwaki
- T Shima
- T Shima
- T Spindler
- Toschkow
- U Feer
- U Korallus
- UW Schnyder
- V Alfano
- V Danilović
- V Danilović
- V Frankovič
- V Genner
- V Kusnecov
- V Kusnecov
- V Matanic
- V Pirilä
- Vernieuwe
- Vernieuwe
- VJ Derbes
- VJ Derbes
- W Bartels
- W Benthin
- W Blaich
- W Brack
- W Brack
- W Brack
- W Brack
- W Brack
- W Brack
- W Gronemeyer
- W Hofbauer
- W Jadassohn
- W Jadassohn
- W Jadassohn
- W Kaisa
- W Knierer
- W Lindemayr
- W Lindemayr
- W Lindemayr
- W Lindemayr
- W Lindemayr
- W Lindemayr
- W Lutz
- W Lutz
- W Lutz
- W Lutz
- W Lutz
- W Massenbach
- W Meyhöfer
- W Molhuysen v. d.
- W Müller
- W Ostroumova
- W Richter
- W Richter
- W Richter
- W Schönfeld
- W Schönfeld
- W Schönfeld
- W Schönstein
- W Thies
- W Thies
- W Tretjakow
- W Zweig
- W Zweig
- Wallhauser
- Wallhauser
- WB Gabriel
- WB Gabriel
- WB Shelley
- WH Guy
- WH Hoffmann
- WH Vogt Jr.
- WJ Erikson
- WJ O’Donovan
- WM Wilson
- WM Wilson
- WN Goldsmith
- WP Elford
- WT Sack
- WT Sack
- WT Vaughan
- WT Vaughan
- WT Vaughan
- WW Duke
- WW Duke
- WW Duke
- Zakon
- Zoon
- Zoon
- ZT Wirtschafter
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1962
- Field of study