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11 research outputs found
Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction
Author
AF Visinoni
BM Lichtenberger
+8Â more
DW Threadgill
G Guo
LA Hansen
M Sibilia
MR Schneider
P Campbell
PJ Miettinen
R Ganetzky
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?
Author
AF Visinoni
B Zeng
+20Â more
B Zeng
C Cluzeau
CF Salinas
F Clauss
F Kieri
J Hammersen
J Reyes-reali
K Burger
K Ramesh
KJ Motil
M Priolo
M Priolo
M Vasconcelos Carvalho
MC MartĂnez-Romero
MO Lexner
N Freire-Maia
S Joseph
S Richards
T Wu
W Timothy
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia
Author
A Mostowska
AF Visinoni
+21Â more
AL Simons
Amjad Ali
DW Stockton
H Vastardis
H Vastardis
Ilyas Ahmad
International Human Genome Sequence Consortium
Jens Schuster
K Arnold
KW Broman
Mahmood Rasool
Miriam Entesarian
Muhammad Aslam
Muhammad Tariq
Niklas Dahl
P Schneider
P Tarpey
R Cottingham
R Tao
SG Hymowitz
Shahid Mahmood Baig
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a
Author
AF Visinoni
AS de
+34Â more
AW Monreal
AW Monreal
C Cluzeau
C Conte
Chang Chen
DX Tong
Fangqi He
Feng Guo
G BlĂĽschke
H Lesot
Hongfeng Wang
J Canueto
J Kere
J Zhang
J Zonana
JA Spfaer
K Ramesh
KH Orstavik
M Pummila
PC Ng
PF Colosimo
PH Itin
QC Kowalczyk
QC Kowalczyk
Qingping Gao
R Tao
S Deshmukh
S Song
SA Winiewski
SY Lu
Xiaoyu Zhang
Y Liu
Y Wu
Y Zhang
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Orofacial Features of Hypohidrotic Ectodermal Dysplasia
Author
A Bhargava
A Clarke
+32Â more
A Nishibu
AF Visinoni
AH Hout van der
B Ruhin
C Cluzeau
CB Kerr
D Glavina
Daniella Reis Barbosa Martelli
F Clauss
F Munoz
FS Ryan
G BlĂĽschke
HercĂlio Martelli JĂşnior
I Tarjan
J Cañueto
J Lamartine
J Zhang
KL Lind
LetĂzia Monteiro de Barros
LĂvia Maris Ribeiro ParanaĂba
M Nakata
M Priolo
ML Mikkola
MO Lexner
Mário Sérgio Oliveira Swerts
N Freire-Maia
PH Itin
S Cambiaghi
Sibele Nascimento de Aquino
TM Prager
VP Sybert
WB Reed
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Ectodermal Dysplasia and Other Genetic Syndromes Associated with Hair Loss
Author
A Bennassar
A Rakowska
+40Â more
A Sendi-Naderi
AF Visinoni
BM Lalević-Vasić
C Cluzeau
C Rouse
CA Venegas-Vega
CF Salinas
CS Seitz
D Mukhopadhyay
D Ribuffo
E Aten
E Mihci
FF Sequeira
G Gimelli
H Fryssira
HJ Ludecke
IB Succi
IJ Frieden
JP Fryns
JS Bellet
KA James
L Rudnicka
LM Solomon
M Castori
M Piccione
M Rue
M Stabile
M Vaccaro
M Vaccaro
M Zadurska
ML Mikkola
MS Wade
N Freire-Maia
N Niikawa
O Bakry
PH Itin
RJ Simeonsson
S Heger
SY Lin
U Mehta
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families
Author
A Bafico
A Bohring
+38Â more
A Glinka
AF Visinoni
Amal Abu Rayyan
B Mao
B Mao
B Mao
C Cluzeau
C Hassler
CP Ponting
CS Cselenyi
Dima Dweik
E Matalova
F Liu
G Courtois
H Vastardis
J Chen
J Kere
L Adaimy
L Lammi
Lara Kamal
M Kurban
M Pinheiro
Mary-Claire King
Ming K Lee
Moien Kanaan
MP Massink
P Kantaputra
P Navon-Elkan
P Nieminen
PJ DeCoster
Q Feng
S Arte
Sarah Pierce
T Andl
T Nakamura
T Walsh
Tom Walsh
Yasmin A Issa
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Interaction between the TP63 and SHH pathways is an important determinant of epidermal homeostasis
Author
A Ruiz i Altaba
A Yang
+72Â more
A Yang
A Yang
AA Mills
AB Truong
AF Visinoni
B St-Jacques
BC Nguyen
C Chiang
CC Hui
D Roop
D Suzuki
DM Berman
E Candi
E Fuchs
E R Flores
EH Epstein
ER Flores
EW Humke
F Aberger
F McKeon
G Melino
G Regl
GY Wang
H Carlsson
H Sasaki
I Diamond
J Alfandari
J Rodriguez-Villanueva
J Svard
K Nakayama
KB Spurgers
KE King
KE King
L Ghali
L Ho
L J Medeiros
M Frank-Kamenetsky
M I Koster
M Kasper
M Kasper
MA Vigano
MD Taylor
MD Taylor
MI Koster
MI Koster
ML Mikkola
N S Chari
P Boukamp
P Kogerman
P Nagarajan
PW Ingham
Q Ding
R A Romano
R Toftgard
RA Romano
RA Romano
RL Bigelow
RR Polakowska
S Brandner
S Cory
S Lippens
S Signoretti
S Sinha
S Teglund
T J McDonnell
T Rinne
TM Caserta
V Jaks
VJ Assikis
W Gruber
X Su
Y Katagata
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Attenuation of Mammary Gland Dysplasia and Feeding Difficulties in Tabby Mice by Fetal Therapy
Author
A Abdalkhani
A Clarke
+71Â more
A Cordero
A Haghighi
AF Visinoni
AK Srivastava
AK Srivastava
Angela Dick
AW Monreal
B Manavathi
C Cluzeau
C Kowalczyk-Quintas
CA Palmer
Christine Kowalczyk-Quintas
DJ Headon
DS Falconer
F Marzouqi Al
Fabian B. Fahlbusch
G Shyamala
H Megarbane
HJ Lee
Holm Schneider
I Fliniaux
I Mikaelian
IS Paine
J Foley
J Kere
J Podzus
J Schindelin
J Zhou
JJ Wysolmerski
JL Inman
JM Veltmaat
K Hermes
K Nagaoka
KL Schwertfeger
L Beinder
L Hennighausen
L Hennighausen
L Hinck
M Affolter
M Beleut
M Voutilainen
M Wahlbuhl-Becker
MA Deugnier
Mandy Wahlbuhl
MB Owens
MC Adriance
MD Aupperlee
MD Sternlicht
ML Mikkola
ML Mikkola
N Zeps
O Boussadia
O Gaide
P Sicinski
P Sun
Pascal Schneider
PH Lindfors
R Schmidt-Ullrich
S Wohlfart
Sonia Schuepbach-Mallepell
SR Blecher
SR Oakes
SR Oakes
T Mustonen
TW Hurd
TY Ma
U Heckmann
V Fantl
V Fantl
W Barham
Y Toyoshima
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Potential sex-dependent effects of weather on apparent survival of a high-elevation specialist
Author
A Aichhorn
A Gelman
+73Â more
A Gelman
A Lehikoinen
A Lehikoinen
AF Camfield
AM Harts
AV Badyaev
AW Boyle
B Petriccione
BK Sandercock
BK Sandercock
CM Wehrle
D Fletcher
D Scridel
D Scridel
DE Chamberlain
DR Ardia
E Strinella
E Strinella
E Strinella
EP Mallory
FA La Sorte
G Jolly
G Tavecchia
GAF Seber
GC West
H Bears
H Holand
HF Mayfield
I Auer
J Chiffard
J-D Lebreton
J-L Grangé
JD Nichols
JD Nichols
JF Scheepens
K Martin
KN Oswald
L Blueweiss
L Visinoni
LM Carrascal
M Beniston
M Brambilla
M Brambilla
M Brambilla
M Brambilla
M Brunetti
M Rogora
M Schaub
MW Tingley
MW Tingley
N Myers
N Pepin
NS Dieffenbaugh
P Lionello
PH Heiniger
PJ Greenwood
PW Dillingham
R Böhm
R Maggini
R Pradel
RL Potapov
RL Wasserstein
RM Cormack
S Pledger
S Wilson
SF Chapin
SM Hille
T Chambert
T Dirnböck
TH Ringsby
V Amrhein
Z Végvári
ZA Cheviron
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
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