|
🐜
|
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
18 auth.
M. Deardorff,
M. Kaur,
Dinah Yaeger,
Abhinav Rampuria,
S. Korolev,
J. Pié,
C. Gil-Rodrı́guez,
María Arnedo,
B. Loeys,
A. Kline,
...
Meredith Wilson,
K. Lillquist,
V. Siu,
F. Ramos,
A. Musio,
L. Jackson,
D. Dorsett,
I. Krantz
|
9 |
2007 |
9
🐜
|
|
🐬
|
de Lange syndrome: a clinical review of 310 individuals.
Laird G. Jackson,
A. Kline,
M. Barr,
S. Koch
|
8 |
1993 |
8
🐬
|
|
🐜
|
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
11 auth.
L. Gillis,
Jennifer McCallum,
M. Kaur,
Cheryl Descipio,
Dinah Yaeger,
Allison Mariani,
...
A. Kline,
Hui-hua Li,
M. Devoto,
L. Jackson,
I. Krantz
|
8 |
2004 |
8
🐜
|
|
🦁
|
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance
8 auth.
A. Kline,
I. Krantz,
A. Sommer,
M. Kliewer,
L. Jackson,
D. FitzPatrick,
...
A. Levin,
A. Selicorni
|
8 |
2007 |
8
🦁
|
|
🦁
|
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
43 auth.
A. Kline,
J. Moss,
A. Selicorni,
Anne-Marie Bisgaard,
M. Deardorff,
P. Gillett,
S. Ishman,
L. Kerr,
A. Levin,
P. Mulder,
F. Ramos,
J. Wierzba,
P. Ajmone,
David Axtell,
N. Blagowidow,
...
A. Cereda,
A. Costantino,
V. Cormier-Daire,
D. FitzPatrick,
M. Grados,
L. Groves,
W. Guthrie,
S. Huisman,
F. Kaiser,
Gerritjan Koekkoek,
M. Levis,
M. Mariani,
Joseph P. McCleery,
L. Menke,
Amy Metrena,
Julia T. O’Connor,
C. Oliver,
J. Pié,
S. Piening,
C. Potter,
Ana L. Quaglio,
E. Redeker,
D. Richman,
C. Rigamonti,
Angell Shi,
Z. Tümer,
Ingrid D C van Balkom,
R. Hennekam
|
8 |
2018 |
8
🦁
|
|
🐜
|
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
85 auth.
L. Snijders Blok,
E. Madsen,
J. Juusola,
C. Gilissen,
D. Baralle,
Margot R. F. Reijnders,
H. Venselaar,
C. Helsmoortel,
M. Cho,
A. Hoischen,
L. Vissers,
T. Koemans,
W. Wissink-Lindhout,
Evan E. Eichler,
C. Romano,
...
H. Van Esch,
C. Stumpel,
M. Vreeburg,
E. Smeets,
K. Oberndorff,
B. V. van Bon,
M. Shaw,
J. Gécz,
E. Haan,
M. Bienek,
C. Jensen,
B. Loeys,
Anke Van Dijck,
A. M. Innes,
Hilary Racher,
S. Vermeer,
N. Di Donato,
A. Rump,
K. Tatton-Brown,
M. Parker,
A. Henderson,
S. Lynch,
A. Fryer,
A. Ross,
P. Vasudevan,
U. Kini,
R. Newbury-Ecob,
K. Chandler,
Alison M. Male,
Sybe Dijkstra,
J. Schieving,
J. Giltay,
K. V. van Gassen,
J. Schuurs-Hoeijmakers,
P. L. Tan,
Igor Pediaditakis,
S. Haas,
K. Retterer,
P. Reed,
K. Monaghan,
Eden V. Haverfield,
M. Natowicz,
A. Myers,
M. Kruer,
Q. Stein,
K. Strauss,
Karlla W Brigatti,
Katherine Keating,
Barbara K Burton,
Katherine H. Kim,
J. Charrow,
Jennifer Norman,
A. Foster-Barber,
A. Kline,
Amy Kimball,
E. Zackai,
M. Harr,
Joyce Fox,
J. McLaughlin,
K. Lindstrom,
K. Haude,
K. V. van Roozendaal,
H. Brunner,
Wendy K. Chung,
R. Kooy,
R. Pfundt,
V. Kalscheuer,
S. Mehta,
N. Katsanis,
T. Kleefstra
|
7 |
2015 |
7
🐜
|
|
🦁
|
Natural history of aging in Cornelia de Lange syndrome
12 auth.
A. Kline,
M. Grados,
P. Sponseller,
H. Levy,
N. Blagowidow,
C. Schoedel,
...
J. Rampolla,
Douglas K Clemens,
I. Krantz,
Amy Kimball,
C. Pichard,
D. Tuchman
|
7 |
2007 |
7
🦁
|
|
🐜
|
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
83 auth.
Frank J. Kaiser,
Morad Ansari,
D. Braunholz,
María Concepción Gil-Rodríguez,
C. Decroos,
Jonathan J. Wilde,
Christopher T. Fincher,
M. Kaur,
M. Bando,
David J. Amor,
P. Atwal,
M. Bahlo,
Christine M. Bowman,
Jacquelyn J. Bradley,
H. Brunner,
...
Dinah Clark,
Miguel del Campo,
N. Di Donato,
Peter Diakumis,
Holly A. Dubbs,
D. Dyment,
Juliane Eckhold,
Sarah Ernst,
Jose C. Ferreira,
Lauren J. Francey,
U. Gehlken,
E. Guillén-Navarro,
Y. Gyftodimou,
Bryan D. Hall,
R. Hennekam,
L. Hudgins,
Melanie A. Hullings,
Jennifer M. Hunter,
H. Yntema,
A. Innes,
A. Kline,
Z. Krūmiņa,
Hane Lee,
K. Leppig,
S. Lynch,
M. Mallozzi,
Linda Mannini,
S. McKee,
S. Mehta,
I. Micule,
S. Mohammed,
E. Moran,
G. Mortier,
J.-A.S. Moser,
Sarah E. Noon,
N. Nozaki,
L. Nunes,
J. Pappas,
L. Penney,
A. Pérez-Aytés,
Michael B. Petersen,
B. Puisac,
N. Revencu,
E. Roeder,
S. Saitta,
Angela E. Scheuerle,
Karen Schindeler,
Victoria M. Siu,
Zornitza Stark,
Samuel P. Strom,
Heidi A. Thiese,
I. Vater,
P. Willems,
K. Williamson,
L. Wilson,
H. Hakonarson,
F. Quintero-Rivera,
J. Wierzba,
A. Musio,
G. Gillessen‐Kaesbach,
F. Ramos,
Laird G. Jackson,
K. Shirahige,
J. Pié,
David W. Christianson,
I. Krantz,
David R Fitzpatrick,
M. Deardorff
|
7 |
2014 |
7
🐜
|
|
🐜
|
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
33 auth.
Jessica X. Chong,
M. McMillin,
Kathryn M. Shively,
A. Beck,
Colby T. Marvin,
Jose R. Armenteros,
K. Buckingham,
Naomi T. Nkinsi,
E. Boyle,
M. Berry,
M. Bocian,
N. Foulds,
M. L. Uzielli,
C. Haldeman-Englert,
R. Hennekam,
...
P. Kaplan,
A. Kline,
C. Mercer,
M. Nowaczyk,
J. S. Klein Wassink-Ruiter,
E. McPherson,
R. Moreno,
A. Scheuerle,
V. Shashi,
C. Stevens,
J. Carey,
A. Monteil,
P. Lory,
H. Tabor,
Joshua D. Smith,
J. Shendure,
D. Nickerson,
M. Bamshad
|
7 |
2015 |
7
🐜
|
|
🦁
|
Molecular analysis of the 18q- syndrome--and correlation with phenotype.
10 auth.
A. Kline,
M. White,
R. Wapner,
K. Rojas,
L. Biesecker,
J. Kamholz,
...
E. Zackai,
M. Muenke,
C. Scott,
J. Overhauser
|
6 |
1993 |
6
🦁
|
|
🐜
|
De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes
62 auth.
M. Gil-Rodríguez,
M. Deardorff,
Morad Ansari,
C. Tan,
I. Parenti,
C. Baquero‐Montoya,
L. Ousager,
B. Puisac,
M. Hernández-Marcos,
M. Teresa-Rodrigo,
Í. Marcos-Alcalde,
J. Wesselink,
Silvia Lusa-Bernal,
E. Bijlsma,
D. Braunholz,
...
I. Bueno-Martínez,
Dinah Clark,
N. Cooper,
C. Curry,
R. Fisher,
A. Fryer,
J. Ganesh,
C. Gervasini,
G. Gillessen‐Kaesbach,
Yiran Guo,
H. Hakonarson,
R. Hopkin,
M. Kaur,
B. Keating,
M. Kibaek,
E. Kinning,
T. Kleefstra,
A. Kline,
E. Kuchinskaya,
L. Larizza,
Yun R Li,
Xuanzhu Liu,
M. Mariani,
J. Picker,
Á. Pié,
J. Pozojevic,
E. Queralt,
J. Richer,
E. Roeder,
Anubha Sinha,
R. Scott,
J. So,
Katie Wusik,
L. Wilson,
Jianguo Zhang,
P. Gómez-Puertas,
C. Casale,
L. Ström,
A. Selicorni,
F. Ramos,
L. Jackson,
I. Krantz,
Soma Das,
R. Hennekam,
F. Kaiser,
D. FitzPatrick,
J. Pié
|
6 |
2015 |
6
🐜
|
