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🐜
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Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.
37 auth.
V. Oji,
G. Tadini,
M. Akiyama,
C. Blanchet Bardon,
C. Bodemer,
E. Bourrat,
P. Coudiere,
J. DiGiovanna,
P. Elias,
J. Fischer,
P. Fleckman,
M. Gina,
J. Harper,
T. Hashimoto,
I. Hausser,
...
H. Hennies,
D. Hohl,
A. Hovnanian,
A. Ishida‐Yamamoto,
W. Jacyk,
S. Leachman,
I. Leigh,
J. Mazereeuw-Hautier,
L. Milstone,
F. Morice-Picard,
A. Paller,
G. Richard,
M. Schmuth,
H. Shimizu,
E. Sprecher,
M. V. van Steensel,
A. Taïeb,
J. Toro,
Pierre Vabres,
A. Vahlquist,
Mary Williams,
H. Traupe
|
9 |
2010 |
9
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|
🐢
|
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis
15 auth.
O. Topaz,
Daniel L. Shurman,
R. Bergman,
M. Indelman,
P. Ratajczak,
Mordechai Mizrachi,
Z. Khamaysi,
D. Behar,
Danny Petronius,
Vered Friedman,
...
I. Zelikovic,
S. Raimer,
Arieh Metzker,
G. Richard,
E. Sprecher
|
9 |
2004 |
9
🐢
|
|
🐜
|
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility
22 auth.
C. Has,
J. Bauer,
C. Bodemer,
M. Bolling,
L. Bruckner-Tuderman,
A. Diem,
J. Fine,
A. Heagerty,
A. Hovnanian,
M. Marinkovich,
...
Anna E. Martinez,
J. McGrath,
C. Moss,
D. Murrell,
F. Palisson,
A. Schwieger-Briel,
E. Sprecher,
K. Tamai,
J. Uitto,
D. Woodley,
G. Zambruno,
J. Mellerio
|
9 |
2020 |
9
🐜
|
|
🐜
|
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
27 auth.
D. Kelsell,
E. Norgett,
Harriet C Unsworth,
M. Teh,
T. Cullup,
C. Mein,
P. Dopping-Hepenstal,
B. Dale,
G. Tadini,
P. Fleckman,
K. Stephens,
V. Sybert,
S. Mallory,
B. North,
D. Witt,
...
E. Sprecher,
A. Taylor,
A. Ilchyshyn,
C. Kennedy,
H. Goodyear,
C. Moss,
D. Paige,
J. Harper,
B. Young,
I. Leigh,
R. Eady,
E. O’Toole
|
8 |
2005 |
8
🐜
|
|
🐢
|
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting
26 auth.
L. Samuelov,
O. Sarig,
Robert M Harmon,
D. Rapaport,
A. Ishida‐Yamamoto,
O. Isakov,
J. Koetsier,
A. Gat,
I. Goldberg,
R. Bergman,
R. Spiegel,
O. Eytan,
S. Geller,
S. Peleg,
N. Shomron,
...
C. Goh,
Neil J Wilson,
Frances J. D. Smith,
E. Pohler,
Michael A. Simpson,
W. H. I. McLean,
Alan D. Irvine,
M. Horowitz,
John A. McGrath,
Kathleen J. Green,
E. Sprecher
|
8 |
2013 |
8
🐢
|
|
🐢
|
Familial pityriasis rubra pilaris is caused by mutations in CARD14.
14 auth.
D. Fuchs‐Telem,
O. Sarig,
M. V. van Steensel,
O. Isakov,
S. Israeli,
J. Nousbeck,
Katharina Richard,
V. Winnepenninckx,
Marigje Vernooij,
N. Shomron,
...
J. Uitto,
P. Fleckman,
G. Richard,
E. Sprecher
|
7 |
2012 |
7
🐢
|
|
🐢
|
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.
11 auth.
H. Mandel,
R. Shemer,
Z. Borochowitz,
M. Okopnik,
C. Knopf,
M. Indelman,
...
A. Drugan,
D. Tiosano,
R. Gershoni-baruch,
M. Choder,
E. Sprecher
|
7 |
2008 |
7
🐢
|
|
🐜
|
The Prevalence of Cutaneous Manifestations in IDDM Patients and Their Association With Diabetes Risk Factors and Microvascular Complications
7 auth.
G. Yosipovitch,
E. Hodak,
P. Vardi,
I. Shraga,
M. Karp,
E. Sprecher,
...
M. David
|
7 |
1998 |
7
🐜
|
|
🐜
|
Association Between Vaccination With BNT162b2 and Incidence of Symptomatic and Asymptomatic SARS-CoV-2 Infections Among Health Care Workers.
7 auth.
Y. Angel,
A. Spitzer,
O. Henig,
E. Saiag,
E. Sprecher,
H. Padova,
...
R. Ben-Ami
|
7 |
2021 |
7
🐜
|
|
🦁
|
Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin
12 auth.
E. Sprecher,
R. Bergman,
G. Richard,
R. Lurie,
S. Shalev,
Danny Petronius,
...
A. Shalata,
Y. Anbinder,
R. Leibu,
I. Perlman,
N. Cohen,
R. Szargel
|
7 |
2001 |
7
🦁
|
|
🐜
|
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.
13 auth.
L. Basel‐Vanagaite,
Revital Attia,
A. Ishida‐Yamamoto,
L. Rainshtein,
D. Ben Amitai,
R. Lurie,
M. Pasmanik-Chor,
M. Indelman,
A. Zvulunov,
Shirley Saban,
...
N. Magal,
E. Sprecher,
M. Shohat
|
7 |
2007 |
7
🐜
|
