|
🐜
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Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
8 auth.
R. Juyal,
L. Figuera,
X. Hauge,
S. Elsea,
J. Lupski,
F. Greenberg,
...
A. Baldini,
P. Patel
|
7 |
1996 |
7
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|
|
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|
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum
20 auth.
B. Struk,
L. Cai,
Stéphanie Zäch,
W. Ji,
Joon Chung,
A. Lumsden,
M. Stumm,
M. Huber,
L. Schaen,
Chung-Ah Kim,
...
Lowell A. Goldsmith,
D. Viljoen,
L. Figuera,
W. Fuchs,
F. Munier,
Rajkumar Ramesar,
D. Hohl,
R. Richards,
K. Neldner,
K. Lindpaintner
|
7 |
2000 |
7
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|
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|
Effects of enzyme replacement therapy in Fabry disease—A comprehensive review of the medical literature
11 auth.
O. Lidove,
M. West,
G. Pintos-Morell,
R. Reisin,
K. Nicholls,
L. Figuera,
...
R. Parini,
L. R. Carvalho,
C. Kampmann,
G. Pastores,
A. Mehta
|
6 |
2010 |
6
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|
|
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|
Association of β-Defensin 1 Single Nucleotide Polymorphisms with Atopic Dermatitis
7 auth.
E. Prado-Montes de Oca,
A. García-Vargas,
Reymundo Lozano-Inocencio,
M. Gallegos-Arreola,
L. Sandoval-Ramírez,
N. O. Dávalos-Rodríguez,
...
L. Figuera
|
6 |
2006 |
6
🐢
|
|
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|
A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure
31 auth.
L. Cai,
B. Struk,
M. Adams,
W. Ji,
T. Haaf,
Hyung‐Lyun Kang,
S. Dho,
Xuequn Xu,
F. Ringpfeil,
J. Nancarrow,
Stéphanie Zäch,
L. Schaen,
M. Stumm,
T. Niu,
Joon Chung,
...
Karsten Lunze,
Bradford Verrecchia,
Lowell A. Goldsmith,
D. Viljoen,
L. Figuera,
W. Fuchs,
M. Lebwohl,
J. Uitto,
R. Richards,
D. Hohl,
Rajkumar Ramesar,
D. Callen,
U. Kim,
N. Doggett,
K. Neldner,
K. Lindpaintner
|
6 |
2000 |
6
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|
|
🐜
|
X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3.
18 auth.
Hongwen Zhu,
D. Shang,
Miao Sun,
Sunju Choi,
Qing Liu,
J. Hao,
L. Figuera,
Feng Zhang,
K. Choy,
Y. Ao,
...
Yang Liu,
Xiao-Lin Zhang,
Fengzhen Yue,
Ming-Rong Wang,
Li Jin,
P. Patel,
T. Jing,
Xue Zhang
|
5 |
2011 |
5
🐜
|
|
🐜
|
Urinary glycosaminoglycan excretion in healthy subjects and in patients with mucopolysaccharidoses.
7 auth.
M. Gallegos-Arreola,
M. Machorro-Lazo,
S. Flores-Martínez,
G. Zúñiga-González,
L. Figuera,
A. González-Noriega,
...
J. Śanchez-Corona
|
5 |
2000 |
5
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|
|
🐢
|
SNP 668C (-44) alters a NF-kappaB1 putative binding site in non-coding strand of human beta-defensin 1 (DEFB1) and is associated with lepromatous leprosy.
E. Prado-Montes de Oca,
J. S. Velarde-Félix,
J. J. Ríos-Tostado,
V. Picos-Cárdenas,
L. Figuera
|
5 |
2009 |
5
🐢
|
|
🐜
|
Mutation of SDHB is a Cause of Hypoxia-Related High-Altitude Paraganglioma
15 auth.
Nidia Y Cerecer-Gil,
L. Figuera,
F. J. Llamas,
Mauricio Lara,
J. Escamilla,
R. Ramos,
Gerardo Estrada,
A. Hussain,
J. Gaal,
E. Korpershoek,
...
R. D. de Krijger,
W. Dinjens,
P. Devilee,
J. Bayley,
J. Bayley
|
5 |
2010 |
5
🐜
|
