|
🐜
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Formation of new chromatin domains determines pathogenicity of genomic duplications
23 auth.
Martin Franke,
Daniel M. Ibrahim,
G. Andrey,
Wibke Schwarzer,
V. Heinrich,
R. Schöpflin,
K. Kraft,
Rieke Kempfer,
I. Jerković,
W. Chan,
...
M. Spielmann,
B. Timmermann,
L. Wittler,
I. Kurth,
P. Cambiaso,
O. Zuffardi,
G. Houge,
L. Lambie,
F. Brancati,
A. Pombo,
M. Vingron,
F. Spitz,
S. Mundlos
|
9 |
2016 |
9
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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
64 auth.
Beverley H Anderson,
P. Kasher,
Joséphine Mayer,
M. Szynkiewicz,
E. Jenkinson,
S. Bhaskar,
J. Urquhart,
Sarah B. Daly,
Jonathan E. Dickerson,
J. O’Sullivan,
E. O. Leibundgut,
J. Muter,
Ghada M H Abdel-Salem,
R. Babul‐Hirji,
P. Baxter,
...
A. Berger,
L. Bonafė,
Janice E Brunstom-Hernandez,
Johannes A Buckard,
D. Chitayat,
W. Chong,
D. Cordelli,
P. Ferreira,
J. Fluss,
E. Forrest,
E. Franzoni,
C. Garone,
S. Hammans,
G. Houge,
I. Hughes,
S. Jacquemont,
P. Jeannet,
R. Jefferson,
Ram Kumar,
G. Kutschke,
S. Lundberg,
Charles M Lourenço,
R. Mehta,
S. Naidu,
K. Nischal,
L. Nunes,
K. Õunap,
M. Philippart,
P. Prabhakar,
Sarah R. Risen,
R. Schiffmann,
C. Soh,
J. Stephenson,
H. Stewart,
J. Stone,
J. Tolmie,
M. Knaap,
J. P. Vieira,
C. Vilain,
E. Wakeling,
V. Wermenbol,
A. Whitney,
S. Lovell,
S. Meyer,
J. Livingston,
G. Baerlocher,
G. Black,
G. Rice,
Y. Crow
|
8 |
2012 |
8
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|
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Fabry disease: overall effects of agalsidase alfa treatment
12 auth.
M. Beck,
R. Ricci,
U. Widmer,
F. Dehout,
A. D. Lorenzo,
C. Kampmann,
...
A. Linhart,
G. Sunder-Plassmann,
G. Houge,
U. Ramaswami,
A. Gal,
A. Mehta
|
7 |
2004 |
7
🐜
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|
🐜
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Agalsidase benefits renal histology in young patients with Fabry disease.
7 auth.
C. Tøndel,
L. Bostad,
K. K. Larsen,
A. Hirth,
B. Vikse,
G. Houge,
...
E. Svarstad
|
7 |
2013 |
7
🐜
|
|
🐜
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CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta
25 auth.
Dustin Baldridge,
U. Schwarze,
R. Morello,
J. Lennington,
T. Bertin,
James M. Pace,
M. Pepin,
M. Weis,
D. Eyre,
J. Walsh,
D. Lambert,
A. Green,
H. Robinson,
Melonie Michelson,
G. Houge,
...
C. Lindman,
Judith A. Martin,
J. Ward,
E. Lemyre,
John J. Mitchell,
D. Krakow,
D. Rimoin,
D. Cohn,
P. Byers,
Brendan H. Lee
|
7 |
2008 |
7
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|
|
🐜
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Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype
28 auth.
T. Kleefstra,
W. V. Zelst-Stams,
W. Nillesen,
V. Cormier-Daire,
G. Houge,
N. Foulds,
M. F. Dooren,
M. Willemsen,
R. Pfundt,
A. Turner,
M. Wilson,
J. McGaughran,
A. Rauch,
M. Zenker,
M. Adam,
...
M. Innes,
C. Davies,
A. G. Lopez,
R. Casalone,
Achim Weber,
L. Brueton,
À. Navarro,
M. P. Bralo,
H. Venselaar,
S. Stegmann,
H. Yntema,
H. Bokhoven,
H. Brunner
|
7 |
2009 |
7
🐜
|
|
🐜
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Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
20 auth.
B. Coste,
G. Houge,
M. Murray,
N. Stitziel,
M. Bandell,
Monica A. Giovanni,
A. Philippakis,
A. Hoischen,
G. Riemer,
Unni Steen,
...
V. Steen,
Jayanti Mathur,
J. Cox,
Matthew S. Lebo,
H. Rehm,
S. Weiss,
J. Wood,
R. Maas,
S. Sunyaev,
A. Patapoutian
|
7 |
2013 |
7
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|
|
🐜
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A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
57 auth.
D. Wieczorek,
N. Bögershausen,
Filippo Beleggia,
S. Steiner-Haldenstätt,
E. Pohl,
Yun Li,
Esther Milz,
Marcel Martin,
H. Thiele,
J. Altmüller,
Y. Alanay,
Y. Alanay,
H. Kayserili,
L. Klein-Hitpass,
S. Böhringer,
...
Andreas Wollstein,
B. Albrecht,
K. Boduroğlu,
A. Caliebe,
K. Chrzanowska,
O. Cogulu,
F. Cristofoli,
J. Czeschik,
K. Devriendt,
M. Dotti,
N. Elcioglu,
B. Gener,
T. Goecke,
M. Krajewska-Walasek,
E. Guillén-Navarro,
J. Hayek,
G. Houge,
E. Kılıç,
P. Simsek-Kiper,
V. López‐González,
A. Kuechler,
S. Lyonnet,
F. Mari,
A. Marozza,
M. M. Dramard,
B. Mikat,
G. Morin,
F. Morice-Picard,
F. Ozkinay,
A. Rauch,
A. Renieri,
S. Tinschert,
G. Utine,
C. Vilain,
R. Vivarelli,
C. Zweier,
P. Nürnberg,
S. Rahmann,
J. Vermeesch,
H. Lüdecke,
M. Zeschnigk,
B. Wollnik
|
7 |
2013 |
7
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|
|
🐜
|
Treatment of Fabry Disease: Outcome of a Comparative Trial with Agalsidase Alfa or Beta at a Dose of 0.2 mg/kg
9 auth.
A. Vedder,
G. Linthorst,
G. Houge,
J. E. Groener,
Els E. Ormel,
B. Bouma,
...
J. Aerts,
A. Hirth,
C. Hollak
|
7 |
2007 |
7
🐜
|
|
🐜
|
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
24 auth.
Sabina Benko,
C. T. Gordon,
D. Mallet,
R. Sreenivasan,
C. Thauvin-Robinet,
A. Brendehaug,
Sophie Thomas,
O. Bruland,
M. David,
M. Nicolino,
...
A. Labalme,
D. Sanlaville,
P. Callier,
V. Malan,
F. Huet,
A. Molven,
F. Dijoud,
A. Munnich,
L. Faivre,
J. Amiel,
V. Harley,
G. Houge,
Y. Morel,
S. Lyonnet
|
7 |
2011 |
7
🐜
|
|
🐜
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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
52 auth.
S. Banka,
R. Veeramachaneni,
W. Reardon,
E. Howard,
S. Bunstone,
N. Ragge,
M. Parker,
Yanick J. Crow,
B. Kerr,
H. Kingston,
K. Metcalfe,
K. Chandler,
A. Magee,
F. Stewart,
V. Mcconnell,
...
D. Donnelly,
S. Berland,
G. Houge,
J. Morton,
C. Oley,
N. Revencu,
Soo-Mi Park,
Sally J Davies,
A. Fry,
S. Lynch,
H. Gill,
S. Schweiger,
W. Lam,
J. Tolmie,
Shehla N Mohammed,
E. Hobson,
Audrey Smith,
Moira Blyth,
C. Bennett,
P. Vasudevan,
S. García-Miñaúr,
A. Henderson,
J. Goodship,
Michael J Wright,
R. Fisher,
R. Gibbons,
Susan M Price,
Deepthi C de Silva,
I. Temple,
Amanda L. Collins,
K. Lachlan,
F. Elmslie,
M. McEntagart,
B. Castle,
J. Clayton-Smith,
G. C. Black,
D. Donnai
|
7 |
2011 |
7
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|
