Wissenschaftliche Publikationen | Max Delbrück Center

130 Ergebnisse:

28. Oktober 2020 / J Genet Genomics

Phosphatidylinositol 4 kinase-β mutations cause non-syndromic sensorineural deafness and inner ear malformation

X. Su
Y. Feng
S.A. Rahman
S. Wu
G. Li
F. Rüschendorf
L. Zhao
H. Cui
J. Liang
L. Fang
H. Hu
S. Froehler
Y. Yu
G. Patone
O. Hummel
Q. Chen
K. Raile
F.C. Luft
S. Bähring
K. Hussain
W. Chen
J. Zhang
M. Gong

27. Mai 2020 / Front Immunol

Pro-inflammatory TNF-α and IFN-γ promote tumor growth and metastasis via induction of MACC1

D. Kobelt
C. Zhang
I.A. Clayton-Lucey
R. Glauben
C. Voss
B. Siegmund
U. Stein

01. Januar 2004 / J Clin Endocrinol Metab

Genome-wide linkage analysis reveals evidence for four new susceptibility loci for familial euthyroid goiter

Y. Bayer
S. Neumann
B. Meyer
F. Rueschendorf
A. Reske
T. Brix
L. Hegedues
P. Langer
P. Nuernberg
R. Paschke

01. Januar 2004 / J Med Genet

Missense mutations of ACTA1 cause dominant congenital myopathy with cores

A.M. Kaindl
F. Rueschendorf
S. Krause
H.H. Goebel
K. Koehler
C. Becker
D. Pongratz
J. Mueller-Hoecker
P. Nuernberg
G. Stoltenburg-Didinger
H. Lochmueller
A. Huebner

01. Januar 2004 / J Med Genet

Molecular karyotyping using an SNP array for genomewide genotyping

A. Rauch
F. Rueschendorf
J. Huang
U. Trautmann
C. Becker
C. Thiel
K.W. Jones
A. Reis
P. Nuernberg

01. Januar 2005 / Nat Genet

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

L.A. Metherell
J.P. Chapple
S. Cooray
A. David
C. Becker
F. Rueschendorf
D. Naville
M. Begeot
B. Khoo
P. Nuernberg
A. Huebner
M.E. Cheetham
A.J.L. Clark

01. Januar 2005 / Bioinformatics

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

F. Rueschendorf
P. Nuernberg

05. Januar 2005 / BMC Pulm Med

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families

J. Altmüller
C. Seidel
Y.A. Lee
S. Loesgen
D. Bulle
F. Friedrichs
H. Jellouschek
J. Kelber
A. Keller
A. Schuster
M. Silbermann
W. Wahlen
P. Wolff
F. Rueschendorf
G. Schlenvoigt
P. Nuernberg
M. Wjst

01. Januar 2005 / Allergy

A genome-wide screen on the genetics of atopy in a multiethnic European population reveals a major atopy locus on chromosome 3q21.3

T. Kurz
J. Altmueller
K. Strauch
F. Rueschendorf
A. Heinzmann
M.F. Moffatt
W.O.C.M. Cookson
F. Inacio
P. Nuernberg
H.H. Stassen
K.A. Deichmann

01. Januar 2004 / Endocr Res

Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2

L.A. Metherell
S. Cooray
A. Huebner
F. Rueschendorf
D. Naville
M. Begeot
A.J.L. Clark