20 research outputs found
Update on oral-facial-digital syndromes (OFDS)
- Author
- A D’Angelo
- A Iglesias
- A Poretti
- A Zullo
- AN Hoover
- B Budny
- B Chih
- BE Tanos
- C Cui
- C Prattichizzo
- C Thauvin-Robinet
- C Thauvin-Robinet
- D Degner
- E Giudice Del
- E Lopez
- EC Roberson
- EM Valente
- F Gurrieri
- FR Garcia-Gonzalo
- G Giorgio
- G Juric-Sekhar
- GD Gupta
- GI Sugarman
- H Ishikawa
- HE Shamseldin
- HV Toriello
- HW Ko
- IJ Bisschoff
- J Burn
- J Hoefele
- J Hunkapiller
- J Saari
- J Wahrman
- KC Corbit
- KJ Christopher
- KL Coene
- L Romio
- LE Figuera
- M Baraitser
- M Edwards
- M Field
- M Macca
- M Papillon-Leage
- M Romani
- M Romani
- M Srour
- MI Ferrante
- MI Ferrante
- MI Ferrante
- N Adly
- NJ Lambacher
- O Gabrielli
- O Mohr
- R Amato
- R Novas
- R Shaheen
- RH Khonsari
- RJ Gorlin
- RP Erickson
- RW Schäfer
- S Bimonte
- S Chetty-John
- S Thomas
- SK Kim
- T Doege
- TR Webb
- V Darmency-Stamboul
- V Moran-Barroso
- V Singla
- V Varadi
- Y Tsurusaki
- YP Liu
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
4-HNE Adduct Stability Characterized by Collision-Induced Dissociation and Electron Transfer Dissociation Mass Spectrometry
- Author
- Alary J.
- Alex A.
- Annangudi S. P.
- Carbone D. L.
- Chaudhary P.
- Chung W. G.
- Codreanu S. G.
- Dennis R. Petersen
- Doorn J. A.
- Esterbauer H.
- Fritz K. S.
- Fritz K. S.
- Greaves J.
- Guo J.
- Jose D. Gomez
- Juric-Sekhar G.
- Katherine A. Kellersberger
- Kohler E. P.
- Kristofer S. Fritz
- Lesgards J. F.
- LoPachin R. M.
- Lopachin R. M.
- Martyniuk C. J.
- Petersen D. R.
- Poli G.
- Poli G.
- Rauniyar N.
- Rauniyar N.
- Rauniyar N.
- Rauniyar N.
- Reed T.
- Roede J. R.
- Roede J. R.
- Sayre L. M.
- Schaur R. J.
- Smathers R. L.
- Uchida K.
- Uchida K.
- Wakita C.
- Wright P.
- Publication venue
- 'American Chemical Society (ACS)'
- Publication date
- Field of study
Clinical spectrum of male patients with OFD1 mutations
- Author
- Akemi Shono
- B Budny
- C Prattichizzo
- C Thauvin-Robinet
- C Thauvin-Robinet
- China Nagano
- G Juric-Sekhar
- HV Toriello
- IJ Bisschoff
- IM Wentzensen
- Junya Fujimura
- Junya Shimizu
- K Zhang
- Kandai Nozu
- Kazumoto Iijima
- KL Coene
- Koichi Nakanishi
- Koji Nagatani
- M Field
- M Macca
- M Morleo
- MI Ferrante
- MI Ferrante
- Ming Juan Ye
- MM Adeva
- Nana Sakakibara
- Naoya Morisada
- S Saal
- S Sharma
- Shogo Minamikawa
- Takuzo Wada
- Tomohiko Yamamura
- Tomoko Horinouchi
- Toshiyuki Ohta
- TR Webb
- Y Tsurusaki
- Yoshimi Nozu
- Yuko Shima
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
A missense variant in NUF2, a component of the kinetochore NDC80 complex, causes impaired chromosome segregation and aneuploidy associated with microcephaly and short stature
- Author
- A Genin
- A Klingseisen
- A Musacchio
- AM Waters
- AP Pandurangan
- B de Wolf
- C Ciferri
- C Rosty
- CA Schneider
- CG Woods
- CY Hung
- D Cimini
- D Jayaraman
- DT Uehara
- EC Gilmore
- F Jean
- F Lampert
- F Saito-Ohara
- G Juric-Sekhar
- GM Mirzaa
- H Moriya
- H Venselaar
- IM Cheeseman
- JG DeLuca
- JT Robinson
- KW Yuen
- LA Kiedrowski
- LJ Sundin
- M Harao
- ML McCleland
- N Kaneko
- NM Ioannidis
- R Mateuca
- RC Allen
- S Duerinckx
- S Hanks
- S Hayama
- S Hayashi
- T Hori
- T Wang
- TM Lok
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
The molecular motor Myosin Va interacts with the cilia-centrosomal protein RPGRIP1L
- Author
- A Knodler
- A Mahuzier
- A Noor
- AF Nascimento
- C Lionne
- CM Bittins
- CM Bittins
- E Krissinel
- E Pastural
- E Pastural
- EM Espreafico
- EM Espreafico
- F Brozzi
- F Farina
- F Odronitz
- G Juric-Sekhar
- G Stratigopoulos
- H Edelhoch
- H Hehnly
- H Khanna
- HH Arts
- I Shnitsar
- J Schindelin
- J Soding
- J Vierkotten
- JA Hammer 3rd
- JA Hammer 3rd
- JH Lee
- JR Schaub
- JS Berg
- K Remans
- KM Trybus
- L Sang
- M Delous
- M Fliegauf
- MC Costa
- MC Pranchevicius
- MF Lise
- MR Alborghetti
- MT van Diepen
- O Pylypenko
- PT Eves
- R Rudolf
- RD Evans
- RL Karcher
- S Doxsey
- SA Seidel
- SF Altschul
- TA Lemos
- V Tsakraklides
- VL Jensen
- W Wagner
- X Wu
- XD Li
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
MKS1 regulates ciliary INPP5E levels in Joubert syndrome
- Author
- Alexiev
- Arts
- Bachmann-Gagescu
- Bachmann-Gagescu
- Barkovich
- Basten
- Bielas
- Braddock
- Bujakowska
- Cantagrel
- Chavez
- Chih
- Christine R Isabella
- Cincinnati
- Colin A Johnson
- Consugar
- Dan Doherty
- Dana M Knutzen
- David Neubauer
- Dawe
- Edgar A Otto
- Fennell
- Friedhelm Hildebrandt
- Garcia-Gonzalo
- Garcia-Gonzalo
- Garcia-Gonzalo
- Gijs van Haaften
- Giles
- Gisela G Slaats
- Gitten
- Glen R Monroe
- Halbritter
- Harakalova
- Hendrik Gremmels
- Hester Y Kroes
- Hodgkins
- Humbert
- Ian A Glass
- Ian G Phelps
- Iannicelli
- Jennifer C Dempsey
- Jonathan Adkins
- Joubert
- Julie Vogt
- Juric-Sekhar
- Karen J Duran
- Kroes
- Lisa Worgan
- Mecke
- Melissa A Parisi
- Mougou-Zerelli
- Nancy J Mendelsohn
- Natalya Karp
- Nine V Knoers
- O'Roak
- Parisi
- Patzke
- Poretti
- Rachel H Giles
- Rohatgi
- Romani
- Romani
- Sairam A Kumar
- Sang
- Sarah Bowdin
- Saraiva
- Shaheen
- Shaheen
- Sotiria D Mastroyianni
- Steinlin
- Szymanska
- Tamada
- Thomas
- Tobin
- Tuz
- Valente
- Wataya
- Yacobi
- Publication venue
- 'BMJ'
- Publication date
- Field of study
NudC regulates actin dynamics and ciliogenesis by stabilizing cofilin 1
- Author
- AL Goldberg
- AY Chan
- BR Bill
- BW Bernstein
- C Spalluto
- CB Kimmel
- CC Liang
- CD Gocke
- Cheng Zhang
- CW Lin
- D Wloga
- DA Willins
- E Oxtoby
- EA Nigg
- EA Nigg
- ED Goley
- ES Chhabra
- ES Seeley
- F Klamt
- G Juric-Sekhar
- GA Stooke-Vaughan
- H Ishikawa
- J Cao
- J Kim
- J von Blume
- JE Bear
- JJ Bravo-Cordero
- JJ Essner
- JP Aumais
- JR Panizzi
- L Zhao
- M Fliegauf
- M Shen
- M Taipale
- M Zheng
- N Kishimoto
- NN Chang
- NV Prodromou
- O Wiggan
- P Hotulainen
- RD Burdine
- S Kim
- SC Goetz
- T Zhou
- Tianhua Zhou
- W Wang
- Wei Liu
- Wen Zhang
- X Xiang
- X Yan
- Xiaoyi Yan
- Xiumin Yan
- XJ Zhu
- Xueliang Zhu
- Y Li
- Y Yang
- Y Yoo
- YF Yang
- Yi Lu
- Yuehong Yang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Role of Shh in the development of molecularly characterized tegmental nuclei in mouse rhombomere 1
- Author
- A Alonso
- A Lumsden
- A Pattyn
- A Perez-Balaguer
- A Simeone
- A Vogel-Höpker
- A. Perez-Balaguer
- AJ Barkovich
- B Lorente-Cánovas
- C Chiang
- C Vieira
- C Vieira
- D Doherty
- D Echevarria
- E Bloch-Gallego
- E Bloch-Gallego
- E Dessaud
- E Domanitskaya
- E Puelles
- E. Puelles
- F Cambronero
- F MarĂn
- F MarĂn
- G Juric-Sekhar
- G Paxinos
- H Tilleman
- J Briscoe
- J Briscoe
- J. A. Moreno-Bravo
- J. E. Martinez-Lopez
- JL Fogel
- K Shimamura
- L Cheng
- L Puelles
- L. Puelles
- M Bonito Di
- M Hidalgo-Sánchez
- M Pasqualetti
- M Placzek
- M Qiu
- M Sander
- M Shi
- M Zervas
- MA Parisi
- MJ Ju
- O Pabst
- P Aroca
- P Aroca
- P Jensen
- P. Aroca
- PM Lewis
- R Nieuwenhuys
- RA Kimmel
- RM Alvarado-Mallart
- S Alcántara
- S Rastegar
- S Vaage
- S. Martinez
- T Alexander
- TE Kennedy
- V Ribes
- WT Farmer
- Y Echelard
- YE Mavromatakis
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity
- Author
- A. Represa
- AJ Barkovich
- AM D’Gama
- B Patel
- BD Manning
- C Cepeda
- C Cepeda
- C Cepeda
- C-L Wang
- CM Fader
- CR Yu
- D Nie
- DA Krueger
- DK Binder
- DM Sabatini
- DZ Milikovsky
- E Abs
- F Chassoux
- G Banker
- G Ciceri
- G Juric-Sekhar
- GG Schiavo
- GW Mathern
- HY Gaisano
- I BlĂĽmcke
- IE Overwater
- IE Overwater
- IE Overwater
- JJ Moffat
- JS Lim
- JT Ting
- L Chauvière
- L Petreanu
- L Yan
- LG Dufner Almeida
- LH Nguyen
- LMC Koene
- LR Fenlon
- LS Hsieh
- M Laplante
- M Shimojo
- M van Slegtenhorst
- M Wong
- MJ Groenewoud
- MJ Kool
- MRFRF Reijnders
- N Chevassus-au-Louis
- N Kane
- N Parmar
- P Major
- PB Crino
- PT Bhaskar
- PT Tsai
- RA Saxton
- RJ Leventer
- RJ Leventer
- RM Fame
- S Abdijadid
- S Hanai
- S Hu
- SK Schmitz
- SM Park
- SMI Goorden
- ST Baek
- SW Way
- T Matsuda
- T Ribierre
- T Saito
- V Budnik
- X Bai
- X Gong
- Y Li
- Y-J Choi
- Publication venue
- 'Public Library of Science (PLoS)'
- Publication date
- Field of study
Overview on major lipid peroxidation bioactive factor 4-hydroxynonenal as pluripotent growth-regulating factor
- Author
- A. Cipak Gasparovic
- Abarikwu SO
- Awasthi S
- Awasthi YC
- Ayala A
- Baradat M
- Barrera G
- Barrera G
- Barrera G
- Biasi F
- Borovic S
- Camandola S
- Canuto RA
- Cerbone A
- Cerbone A
- Choudhary S
- Cipak A
- Cipak A
- Curzio M
- Curzio M
- Curzio M
- Dalleau S
- D’Autréaux B
- Esterbauer H
- Esterbauer H
- Finkel T
- Forman HJ
- Gaetke L
- Gago-Dominguez M
- Huang Y
- Ishikado A
- Jaganjac M
- Juric-Sekhar G
- Jørgensen P
- Karihtala P
- Klaunig JE
- Kolenc D
- Kreuzer T
- Kreuzer T
- Kutuk O
- L. Milkovic
- Lee SJ
- Lee W-C
- Leonarduzzi G
- Liu W
- Liu W
- Maggiora M
- Marquez-Quiñones A
- Mattson MP
- Mattson MP
- McElhanon KE
- McMahon M
- Milkovic L
- Milkovic L
- Mrakovcic L
- N. Zarkovic
- Niki E
- Obtułowicz T
- Paradisi L
- Pettazzoni P
- Pham-Huy LA
- Pizzimenti S
- Pizzimenti S
- Pizzimenti S
- Poli G
- Poppek D
- Powers SK
- Ramana KV
- Ray PD
- Rossi MA
- Rossi MA
- Rudić M
- Semlitsch T
- Semlitsch T
- Sharma R
- Shearn CT
- Sovic A
- Srivastava S
- Suc I
- Sunjic SB
- Trachootham D
- Uchida K
- Usatyuk PV
- Usatyuk PV
- Vatsyayan R
- Wall SB
- Wildburger R
- Yin H
- Zamara E
- Zanetti D
- Zarkovic K
- Zarkovic K
- Zarkovic N
- Zarkovic N
- Zarkovic N
- Zheng R
- Zhong H
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study