Estudio genético de acuerdo a características fenotípicas de niños y adolescentes con discapacidad intelectual de etiología indeterminada. (Spanish)

Autor: Santander, Paola, Pedemonte, María José, Troncoso, Mónica, Yáñez, Carolina, Cárdenas, María Alejandra, Guajardo, Karen, Silva, Carolina, Neves, Macarena, López, Claudia, Lagos, Paola, Barrios, Andrés, Troncoso, Ledia

Publikováno v: Andes Pediatrica; Dec2021, Vol. 92 Issue 6, p879-887, 9p

Estimación de la prevalencia de trastorno del Espectro Autista en población urbana chilena. (Spanish)

Autor: Yáñez, Carolina, Maira, Paulina, Elgueta, Constanza, Brito, Macarena, Crockett, Marcelo A., Troncoso, Ledia, López, Claudia, Troncoso, Mónica

Publikováno v: Andes Pediatrica; Aug2021, Vol. 92 Issue 4, p519-525, 7p

The phenotypic spectrum of SCN8A encephalopathy

Autor: Larsen, Jan, Carvill, Gemma L., Gardella, Elena, Kluger, Gerhard, Schmiedel, Gudrun, Barisic, Nina, Depienne, Christel, Brilstra, Eva, Mang, Yuan, Nielsen, Jens Erik Klint, Kirkpatrick, Martin, Goudie, David, Goldman, Rebecca, Jähn, Johanna A., Jepsen, Birgit, Gill, Deepak, Döcker, Miriam, Biskup, Saskia, Mcmahon, Jacinta M., Koeleman, Bobby, Harris, Mandy, Braun, Kees, De Kovel, Carolien G. F., Marini, Carla, Specchio, Nicola, Djémié, Tania, Weckhuysen, Sarah, Tommerup, Niels, Troncoso, Monica, Troncoso, Ledia, Bevot, Andrea, Wolff, Markus, Hjalgrim, Helle, Guerrini, Renzo, Zara, Federico, Scheffer, Ingrid E., Mefford, Heather C., Møller, Rikke S.

Publikováno v: Neurology
Larsen, J, Carvill, G L, Gardella, E, Kluger, G, Schmiedel, G, Barisic, N, Depienne, C, Brilstra, E, Mang, Y, Nielsen, J E K, Kirkpatrick, M, Goudie, D, Goldman, R, Jähn, J A, Jepsen, B, Gill, D, Döcker, M, Biskup, S, McMahon, J M, Koeleman, B, Harris, M, Braun, K, de Kovel, C G F, Marini, C, Specchio, N, Djémié, T, Weckhuysen, S, Tommerup, N, Troncoso, M, Troncoso, L, Bevot, A, Wolff, M, Hjalgrim, H, Guerrini, R, Scheffer, I E, Mefford, H C, Møller, R S & EuroEPINOMICS RES Consortium 2015, ' The phenotypic spectrum of SCN8A encephalopathy ', Neurology, vol. 84, no. 5, pp. 480-489 . https://doi.org/10.1212/WNL.0000000000001211

OBJECTIVE: SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1.6). SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. We aimed to delineate the phenotype associated with SCN8A mutations.METHODS:

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84ff62ae94d054b70e7770469a440548
https://doi.org/10.1212/wnl.0000000000001211

Barber-Say syndrome: further delineation of the clinical spectrum

Autor: Cortés,Fanny M., Troncoso,Ledia A., Alliende,Angélica R., Curotto,Bianca L.

Publikováno v: Genetics and Molecular Biology, Volume: 23, Issue: 2, Pages: 265-267, Published: JUN 2000
Genetics and Molecular Biology v.23 n.2 2000
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG

We report on a 14-year-old girl who presented a multiple congenital anomaly pattern: ablepharon, hypertelorism, telecanthus, macrostomia, helix agenesis of both ears, redundant thick skin and severe hirsutism, the 5th reported case of Barber-Say synd

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ff83a9164323043026baa16fdce04682
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000200003&lng=en&tlng=en

Zinc en la terapia del síndrome de déficit de atención e hiperactividad en niños. Un estudio controlado aleatorio preliminar. (Spanish)

Autor: Zamora, José, Velásquez, Alvaro, Troncoso, Ledia, Barra, Patricia, Guajardo, Karen, Castillo-Duran, Carlos

Publikováno v: Archivos Latinoamericanos de Nutrición; sep2011, Vol. 61 Issue 3, p242-246, 5p