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🐜
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Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.
9 auth.
M. Pigg,
A. Bygum,
A. Gånemo,
M. Virtanen,
F. Brandrup,
A. Zimmer,
...
A. Hotz,
A. Vahlquist,
J. Fischer
|
6 |
2016 |
6
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|
|
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Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
13 auth.
A. Hotz,
V. Oji,
E. Bourrat,
N. Jonca,
J. Mazereeuw-Hautier,
R. Betz,
U. Blume-Peytavi,
K. Stieler,
F. Morice-Picard,
Ines Schönbuchner,
...
S. Markus,
N. Schlipf,
J. Fischer
|
5 |
2016 |
5
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Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome
9 auth.
P. Kirchmeier,
P. Kirchmeier,
E. Sayar,
A. Hotz,
I. Hausser,
A. Islek,
...
A. Yılmaz,
R. Artan,
J. Fischer
|
5 |
2014 |
5
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🦁
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Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis
11 auth.
A. Hotz,
E. Bourrat,
J. Küsel,
V. Oji,
S. Alter,
L. Hake,
...
M. Korbi,
H. Ott,
I. Hausser,
A. Zimmer,
J. Fischer
|
4 |
2018 |
4
🦁
|
|
🐜
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Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function
17 auth.
A. Zimmer,
Gwang-Jin Kim,
A. Hotz,
E. Bourrat,
I. Hausser,
C. Has,
V. Oji,
K. Stieler,
A. Vahlquist,
V. Kunde,
...
Benedikt Weber,
F. Radner,
S. Leclerc‐Mercier,
N. Schlipf,
P. Demmer,
J. Küsel,
J. Fischer
|
4 |
2017 |
4
🐜
|
|
🦁
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Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients
31 auth.
A. Hotz,
J. Kopp,
E. Bourrat,
V. Oji,
K. Komlosi,
K. Giehl,
B. Bouadjar,
A. Bygum,
I. Tantcheva‐poór,
Maritta Hellström Pigg,
C. Has,
Zhou Yang,
A. Irvine,
R. Betz,
G. Zambruno,
...
G. Tadini,
K. Süßmuth,
R. Gruber,
M. Schmuth,
J. Mazereeuw-Hautier,
N. Jonca,
S. Guez,
M. Brena,
Á. Hernández-Martín,
P. C. van den Akker,
M. Bolling,
K. Hannula-Jouppi,
A. Zimmer,
S. Alter,
A. Vahlquist,
J. Fischer
|
4 |
2021 |
4
🦁
|
|
🐜
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Epidemiology of inherited epidermolysis bullosa in Germany
23 auth.
C. Has,
M. Hess,
W. Anemüller,
U. Blume-Peytavi,
S. Emmert,
R. Fölster-Holst,
J. Frank,
K. Giehl,
C. Günther,
J. Hammersen,
...
K. Hillmann,
B. Höflein,
P. Hoeger,
A. Hotz,
Thuy Anh Mai,
V. Oji,
H. Schneider,
K. Süßmuth,
I. Tantcheva‐poór,
F. Thielking,
B. Zirn,
J. Fischer,
A. Reimer-Taschenbrecker
|
4 |
2022 |
4
🐜
|
|
🦁
|
Microdeletion 5q14.3 and anomalies of brain development
12 auth.
A. Hotz,
Y. Hellenbroich,
J. Sperner,
M. Linder-Lucht,
U. Tacke,
C. Walter,
...
A. Caliebe,
I. Nagel,
D. Saunders,
G. Wolff,
Peter Martin,
D. Morris-Rosendahl
|
4 |
2013 |
4
🦁
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