|
🐜
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Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome
31 auth.
Kazuyuki Nakamura,
Mitsuhiro Kato,
H. Osaka,
S. Yamashita,
E. Nakagawa,
K. Haginoya,
J. Tohyama,
M. Okuda,
T. Wada,
S. Shimakawa,
K. Imai,
S. Takeshita,
H. Ishiwata,
D. Lev,
T. Lerman-Sagie,
...
D. Cervantes-Barragán,
C. Villarroel,
M. Ohfu,
K. Writzl,
Barbara Gnidovec Stražišar,
S. Hirabayashi,
D. Chitayat,
Diane Myles Reid,
K. Nishiyama,
H. Kodera,
M. Nakashima,
Y. Tsurusaki,
N. Miyake,
K. Hayasaka,
N. Matsumoto,
H. Saitsu
|
7 |
2013 |
7
🐜
|
|
🐜
|
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
34 auth.
Björn Fischer-Zirnsak,
N. Escande-Beillard,
J. Ganesh,
Yu Tan,
Mohammed Al Bughaili,
A. Lin,
I. Sahai,
Paulina Bahena,
S. L. Reichert,
A. Loh,
G. Wright,
J. Liu,
E. Rahikkala,
E. Pivnick,
A. Choudhri,
...
Ulrike Krüger,
T. Żemojtel,
C. V. van Ravenswaaij-Arts,
Roya M Mostafavi,
I. Stolte-Dijkstra,
S. Symoens,
L. Pajunen,
L. Al-Gazali,
D. Meierhofer,
P. Robinson,
S. Mundlos,
C. Villarroel,
P. Byers,
A. Masri,
S. Robertson,
U. Schwarze,
B. Callewaert,
B. Reversade,
U. Kornak
|
6 |
2015 |
6
🐜
|
|
🐜
|
Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification
9 auth.
D. Cervantes-Barragán,
C. Villarroel,
Alma Medrano-Hernández,
C. Durán-McKinster,
V. Bosch-Canto,
Victoria del-Castillo,
...
Irina Nazarenko,
Amy C. Yang,
R. Desnick
|
4 |
2011 |
4
🐜
|
|
🦁
|
Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations
7 auth.
C. Villarroel,
C. Villanueva-Mendoza,
L. Orozco,
M. Alcántara-Ortigoza,
D. F. Jiménez,
J. C. Ordaz,
...
A. González-del Angel
|
4 |
2008 |
4
🦁
|
|
🐜
|
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing
12 auth.
Diana Matías-Pérez,
Leopoldo A Garcia-Montano,
Marisa Cruz-Aguilar,
I. García-Montalvo,
Jessica Nava-Valdéz,
Tania Barragán-Arévalo,
...
C. Villanueva-Mendoza,
C. Villarroel,
Clavel Guadarrama-Vallejo,
Rocío Villafuerte-de la Cruz,
O. Chacon-Camacho,
J. Zenteno
|
4 |
2018 |
4
🐜
|
|
🐬
|
Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome.
O. Chacon-Camacho,
Tania Barragán-Arévalo,
C. Villarroel,
M. Almanza-Monterrubio,
J. Zenteno
|
3 |
2020 |
3
🐬
|
|
🐜
|
UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome.
13 auth.
G. Garza-Mayén,
V. Ulloa-Avilés,
C. Villarroel,
P. Navarrete-Meneses,
E. Lieberman-Hernández,
M. Abreu-González,
L. Márquez-Quiróz,
C. Azotla-Vilchis,
J. C. Cifuentes-Goches,
V. Del Castillo-Ruiz,
...
C. Durán-McKinster,
P. Pérez-Vera,
C. Salas-Labadía
|
2 |
2021 |
2
🐜
|
|
🐜
|
Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG
17 auth.
C.A. González-Domínguez,
C. Villarroel,
M. Rodríguez-Morales,
S. Manrique-Hernández,
A. González-Jaimes,
F. Olvera-Rodríguez,
K. Beutelspacher,
C. Molina-Garay,
K. Carrillo-Sánchez,
L. L. Flores-Lagunes,
...
M. Jiménez-Olivares,
A. Muñoz-Rivas,
M. Cruz-Munoz,
H. Mora-Montes,
R. Salinas-Marín,
C. Alaez-Verson,
I. Martínez-Duncker
|
2 |
2021 |
2
🐜
|
