|
🐜
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Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.
21 auth.
M. Zenker,
T. Aigner,
O. Wendler,
Tim Tralau,
H. Müntefering,
R. Fenski,
S. Pitz,
V. Schumacher,
B. Royer-Pokora,
E. Wühl,
...
P. Cochat,
R. Bouvier,
C. Kraus,
K. Mark,
H. Madlon,
J. Dötsch,
W. Rascher,
I. Maruniak-Chudek,
T. Lennert,
L. Neumann,
A. Reis
|
8 |
2004 |
8
🐜
|
|
🐜
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Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
18 auth.
E. Klopocki,
H. Schulze,
G. Strauss,
C. Ott,
JudithG. Hall,
Fabienne Trotier,
S. Fleischhauer,
L. Greenhalgh,
R. Newbury-Ecob,
L. Neumann,
...
R. Habenicht,
R. König,
E. Seemanová,
A. Mégarbané,
H. Ropers,
R. Ullmann,
D. Horn,
S. Mundlos
|
8 |
2007 |
8
🐜
|
|
🐜
|
Mutations of FBN1 and genotype–phenotype correlations in Marfan syndrome and related fibrillinopathies
9 auth.
P. Robinson,
P. Booms,
S. Katzke,
M. Ladewig,
L. Neumann,
M. Palz,
...
R. Pregla,
F. Tiecke,
T. Rosenberg
|
7 |
2002 |
7
🐜
|
|
🐜
|
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
25 auth.
Özge Altug Teber,
G. Gillessen‐Kaesbach,
S. Fischer,
S. Böhringer,
B. Albrecht,
A. Albert,
M. Arslan‐Kirchner,
E. Haan,
M. Hagedorn-Greiwe,
C. Hammans,
W. Henn,
G. Hinkel,
R. König,
E. Kunstmann,
J. Kunze,
...
L. Neumann,
E. Prott,
A. Rauch,
H. Rott,
H. Seidel,
S. Spranger,
M. Sprengel,
B. Zoll,
D. Lohmann,
D. Wieczorek
|
7 |
2004 |
7
🐜
|
|
🐜
|
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–phenotype correlations in FBN1 exons 24–40
15 auth.
F. Tiecke,
S. Katzke,
P. Booms,
P. Robinson,
L. Neumann,
M. Godfrey,
Kurt R. Mathews,
M. Scheuner,
G. Hinkel,
R. Brenner,
...
H. Hövels-Gürich,
C. Hagemeier,
J. Fuchs,
F. Skovby,
T. Rosenberg
|
7 |
2001 |
7
🐜
|
|
🐜
|
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome
28 auth.
R. Varon,
R. Gooding,
Christina Steglich,
L. Marns,
Hua Tang,
D. Angelicheva,
K. K. Yong,
P. Ambrugger,
Anke Reinhold,
B. Morar,
F. Baas,
M. Kwa,
I. Tournev,
Velina Guerguelcheva,
I. Kremensky,
...
H. Lochmüller,
A. Müllner‐Eidenböck,
L. Merlini,
L. Neumann,
J. Burger,
J. Burger,
M. Walter,
K. Swoboda,
P. Thomas,
A. Moers,
N. Risch,
N. Risch,
L. Kalaydjieva
|
7 |
2003 |
7
🐜
|
|
🐜
|
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation
7 auth.
A. Superti-Furga,
L. Neumann,
T. Riebel,
G. Eich,
B. Steinmann,
J. Spranger,
...
J. Kunze
|
7 |
1999 |
7
🐜
|
|
🐜
|
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes
20 auth.
S. Türkmen,
G. Gillessen‐Kaesbach,
P. Meinecke,
B. Albrecht,
L. Neumann,
V. Hesse,
S. Palanduz,
S. Balg,
F. Majewski,
S. Fuchs,
...
P. Zschieschang,
M. Greiwe,
K. Mennicke,
F. Kreuz,
Harald J Dehmel,
B. Rodeck,
J. Kunze,
S. Tinschert,
S. Mundlos,
D. Horn
|
7 |
2003 |
7
🐜
|
|
🐢
|
Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: An autosomal recessive syndrome
10 auth.
M. Zenker,
Tim Tralau,
T. Lennert,
S. Pitz,
K. Mark,
H. Madlon,
...
J. Dötsch,
A. Reis,
H. Müntefering,
L. Neumann
|
7 |
2004 |
7
🐢
|
|
🐜
|
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation
13 auth.
V. Kalscheuer,
D. FitzPatrick,
N. Tommerup,
M. Bugge,
E. Niebuhr,
L. Neumann,
A. Tzschach,
S. Shoichet,
C. Menzel,
F. Erdogan,
...
G. Arkesteijn,
H. Ropers,
R. Ullmann
|
6 |
2007 |
6
🐜
|
|
🐜
|
Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition.
9 auth.
H. Neitzel,
L. Neumann,
D. Schindler,
Andreas Wirges,
H. Tönnies,
M. Trimborn,
...
A. Krebsová,
Reyk Richter,
K. Sperling
|
6 |
2002 |
6
🐜
|
