|
🐜
|
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation
73 auth.
K. Rojnueangnit,
Jing Xie,
A. Gomes,
A. Sharp,
T. Callens,
Yunjia Chen,
Y. Liu,
M. Cochran,
M. Abbott,
J. Atkin,
D. Babovic‐Vuksanovic,
C. Barnett,
Melissa L. Crenshaw,
D. Bartholomew,
L. Basel,
...
G. Bellus,
S. Ben-Shachar,
M. Bialer,
D. Bick,
B. Blumberg,
F. Cortés,
K. David,
A. Destrėe,
A. Duat‐Rodríguez,
D. Earl,
L. Escobar,
M. Eswara,
B. Ezquieta,
I. Frayling,
M. Frydman,
Kathy L. Gardner,
K. Gripp,
C. Hernández‐Chico,
K. Heyrman,
J. Ibrahim,
S. Janssens,
B. Keena,
I. Llano-Rivas,
K. Leppig,
M. McDonald,
V. Misra,
J. Mulbury,
V. Narayanan,
N. Orenstein,
P. Galvin-Parton,
Helio F. Pedro,
E. Pivnick,
C. Powell,
L. Randolph,
S. Raskin,
J. Rosell,
K. Rubin,
M. Seashore,
C. Schaaf,
A. Scheuerle,
M. Schultz,
E. Schorry,
R. Schnur,
Elizabeth Siqveland,
Amanda K Tkachuk,
J. Tonsgard,
M. Upadhyaya,
I. Verma,
S. Wallace,
C. Williams,
E. Zackai,
J. Zonana,
C. Lázaro,
K. Claes,
B. Korf,
Y. Martín,
E. Legius,
L. Messiaen
|
7 |
2015 |
7
🐜
|
|
🐜
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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
40 auth.
B. Keena,
Aaina Kochhar,
J. Liebelt,
A. Martir-Negron,
M. Mahoney,
I. Maystadt,
C. Mcdougall,
M. McEntagart,
N. Mendelsohn,
David T. Miller,
G. Mortier,
J. Morton,
J. Pappas,
S. Plotkin,
Dinel Pond,
...
K. Rosenbaum,
K. Rubin,
L. Russell,
Lane S. Rutledge,
V. Saletti,
Rhonda Schonberg,
A. Schreiber,
Meredith Seidel,
Elizabeth Siqveland,
D. Stockton,
E. Trevisson,
N. Ullrich,
M. Upadhyaya,
R. Minkelen,
H. Verhelst,
M. Wallace,
Y. Yap,
E. Zackai,
J. Zonana,
V. Zurcher,
K. Claes,
Y. Martín,
B. Korf,
E. Legius,
L. Messiaen
|
7 |
2017 |
7
🐜
|
|
🐜
|
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
108 auth.
Magdalena Koczkowska,
T. Callens,
Yunjia Chen,
A. Gomes,
Alesha D. Hicks,
A. Sharp,
Eric Johns,
K. Uhas,
L. Armstrong,
K. Bosanko,
D. Babovic‐Vuksanovic,
L. Baker,
Donald G Basel,
Mario Bengala,
James T. Bennett,
...
Chelsea Chambers,
L. Clarkson,
M. Clementi,
F. Cortés,
Mitch Cunningham,
M. D’Agostino,
M. Delatycki,
M. C. Digilio,
L. Dosa,
S. Esposito,
S. Fox,
M. Freckmann,
C. Fauth,
T. Giugliano,
S. Giustini,
Allison L Goetsch,
Y. Goldberg,
Robert S. Greenwood,
Cristin Griffis,
K. Gripp,
Punita Gupta,
E. Haan,
R. Hachen,
Tamara L. Haygarth,
C. Hernández‐Chico,
Katelyn Hodge,
R. Hopkin,
L. Hudgins,
S. Janssens,
Kory Keller,
Geraldine Kelly‐Mancuso,
Aaina Kochhar,
B. Korf,
Andrea M. Lewis,
J. Liebelt,
A. Lichty,
R. Listernick,
M.J. Lyons,
I. Maystadt,
Mayra Martinez Ojeda,
C. Mcdougall,
Lesley Mcgregor,
D. Melis,
N. Mendelsohn,
Małgorzata J. M. Nowaczyk,
J. Ortenberg,
K. Panzer,
J. Pappas,
M. Pierpont,
G. Piluso,
V. Pinna,
E. Pivnick,
Dinel Pond,
C. Powell,
C. Rogers,
Noa Ruhrman Shahar,
S. Rutledge,
V. Saletti,
S. Sandaradura,
C. Santoro,
U. Schatz,
A. Schreiber,
D. Scott,
E. Sellars,
R. Sheffer,
Elizabeth Siqveland,
J. Slopis,
Rosemarie Smith,
A. Spalice,
D. Stockton,
Haley E. Streff,
A. Theos,
G. Tomlinson,
Grace Tran,
Pamela Trapane,
E. Trevisson,
N. Ullrich,
J. van den Ende,
S. S. Schrier Vergano,
S. Wallace,
M. Wangler,
D. Weaver,
K. Yohay,
E. Zackai,
J. Zonana,
V. Zurcher,
K. Claes,
M. Eoli,
Y. Martín,
K. Wimmer,
A. De Luca,
E. Legius,
L. Messiaen
|
6 |
2019 |
6
🐜
|
|
🐜
|
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
70 auth.
Magdalena Koczkowska,
T. Callens,
A. Gomes,
A. Sharp,
Yunjia Chen,
Alesha D. Hicks,
A. Aylsworth,
A. Azizi,
Donald G Basel,
G. Bellus,
L. Bird,
Maria A. Blazo,
L. Burke,
Ashley Cannon,
F. Collins,
...
Colette DeFilippo,
E. Denayer,
M. C. Digilio,
Shelley K. Dills,
L. Dosa,
Robert S. Greenwood,
Cristin Griffis,
Punita Gupta,
R. Hachen,
C. Hernández‐Chico,
S. Janssens,
K. Jones,
J. Jordan,
P. Kannu,
B. Korf,
Andrea M. Lewis,
R. Listernick,
F. Lonardo,
M. Mahoney,
Mayra Martinez Ojeda,
M. McDonald,
C. Mcdougall,
N. Mendelsohn,
David T. Miller,
M. Mori,
R. Oostenbrink,
S. Perreault,
M. Pierpont,
C. Piscopo,
Dinel Pond,
L. Randolph,
K. Rauen,
S. Rednam,
S. Rutledge,
V. Saletti,
G. Schaefer,
E. Schorry,
D. Scott,
A. Shugar,
Elizabeth Siqveland,
L. Starr,
Ashraf Syed,
Pamela Trapane,
N. Ullrich,
E. Wakefield,
L. Walsh,
M. Wangler,
E. Zackai,
K. Claes,
K. Wimmer,
R. van Minkelen,
A. De Luca,
Y. Martín,
E. Legius,
L. Messiaen
|
6 |
2018 |
6
🐜
|
|
🐜
|
Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder
26 auth.
D. Stewart,
H. Brems,
A. Gomes,
Sarah L. Ruppert,
T. Callens,
Jennifer B. Williams,
K. Claes,
M. Bober,
R. Hachen,
L. Kaban,
Hua Li,
Angela Lin,
M. McDonald,
S. Melançon,
J. Ortenberg,
...
Heather B. Radtke,
I. Samson,
R. Saul,
Joseph J Shen,
Elizabeth Siqveland,
Tomi L. Toler,
M. Maarle,
M. Wallace,
M. Williams,
E. Legius,
L. Messiaen
|
5 |
2013 |
5
🐜
|
|
🐜
|
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
65 auth.
Alicia Gomes,
MMedSc Angela Sharp,
Yun-Yen Chen,
Alesha D. Hicks,
A. Aylsworth,
A. Azizi,
Donald G Basel,
G. Bellus,
L. Bird,
Maria A. Blazo,
L. Burke,
Ashley Cannon,
F. Collins,
Colette DeFilippo,
E. Denayer,
...
M. C. Digilio,
Shelley K. Dills,
L. Dosa,
Robert S. Greenwood,
Cristin Griffis,
Punita Gupta,
R. Hachen,
C. Hernández‐Chico,
S. Janssens,
K. Jones,
J. Jordan,
P. Kannu,
B. Korf,
Andrea M. Lewis,
R. Listernick,
F. Lonardo,
M. Mahoney,
Mayra Martinez Ojeda,
M. McDonald,
C. Mcdougall,
N. Mendelsohn,
David T. Miller,
Mariko Mori,
R. Oostenbrink,
S. Perreault,
M. Pierpont,
C. Piscopo,
L. Randolph,
K. Rauen,
S. Rednam,
S. Rutledge,
V. Saletti,
G. Schaefer,
E. Schorry,
D. Scott,
Elizabeth Siqveland,
L. Starr,
Ashraf Syed,
Pamela Trapane,
N. Ullrich,
E. Wakefield,
L. Walsh,
M. Wangler,
E. Zackai,
Kathleen B. M. Claes,
K. Wimmer,
R. Minkelen,
A. Luca,
Y. Martín,
E. Legius
|
1 |
2019 |
1
🐜
|
|
🐜
|
Lg-55Case Report Of An Optic Pathway Glioma In A Patient With Legius Syndrome
8 auth.
Mary M. Skrypek,
A. Bendel,
Meysam A. Kebriaei,
N. Mendelsohn,
Amy Wein,
Melissa J Hansen,
...
Elizabeth Siqveland,
R. Listernick
|
1 |
2016 |
1
🐜
|
|
🐜
|
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
70 auth.
Magdalena Koczkowska,
T. Callens,
A. Gomes,
A. Sharp,
Yunjia Chen,
Alesha D. Hicks,
A. Aylsworth,
A. Azizi,
Donald G Basel,
G. Bellus,
L. Bird,
Maria A. Blazo,
L. Burke,
Ashley Cannon,
F. Collins,
...
Colette DeFilippo,
E. Denayer,
M. C. Digilio,
Shelley K. Dills,
L. Dosa,
R. Greenwood,
Cristin Griffis,
Punita Gupta,
R. Hachen,
C. Hernández‐Chico,
S. Janssens,
K. Jones,
J. Jordan,
P. Kannu,
B. Korf,
Andrea M. Lewis,
R. Listernick,
F. Lonardo,
M. Mahoney,
Mayra Martinez Ojeda,
M. McDonald,
C. Mcdougall,
N. Mendelsohn,
David T. Miller,
M. Mori,
R. Oostenbrink,
S. Perreault,
M. Pierpont,
C. Piscopo,
Dinel Pond,
L. Randolph,
K. Rauen,
S. Rednam,
S. Rutledge,
V. Saletti,
G. Schaefer,
E. Schorry,
D. Scott,
A. Shugar,
Elizabeth Siqveland,
L. Starr,
Ashraf Syed,
Pamela Trapane,
N. Ullrich,
E. Wakefield,
L. Walsh,
M. Wangler,
E. Zackai,
K. Claes,
K. Wimmer,
R. Minkelen,
A. Luca,
Y. Martín,
E. Legius,
L. Messiaen
|
0 |
2018 |
0
🐜
|
|
🦁
|
Neurofibromatosis type 1: update on a common genetic condition.
Elizabeth Siqveland,
Dinel Pond
|
0 |
2009 |
0
🦁
|
