Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
5 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
[Prader-Willi and Angelman syndromes: case series diagnosed by MS-MLPA assay].
Rev Med Inst Mex Seguro Soc. 2021 Jun 14;59(2):170-178.
Rev Med Inst Mex Seguro Soc. 2021.
PMID: 34232598
Spanish.
Usefulness of the MS-MLPA technique in the diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
Acosta-Fernández E, Corona-Rivera JR, Ríos-Flores IM, Torres-Anguiano E, Corona-Rivera A, Peña-Padilla C, Bobadilla-Morales L.
Acosta-Fernández E, et al.
Gac Med Mex. 2022;158(4):202-209. doi: 10.24875/GMM.M22000673.
Gac Med Mex. 2022.
PMID: 36256576
Free article.
English.
Item in Clipboard
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.
Acosta-Fernández E, Zenteno JC, Chacón-Camacho OF, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A, Romo-Huerta CO, Zepeda-Romero LC, López-Marure E, Acosta-León J, García-Cruz D, Maciel-Cruz EJ, Corona-Rivera JR.
Acosta-Fernández E, et al.
Am J Med Genet A. 2020 May;182(5):1223-1229. doi: 10.1002/ajmg.a.61506. Epub 2020 Feb 5.
Am J Med Genet A. 2020.
PMID: 32022998
Item in Clipboard
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.
Peña-Padilla C, Marshall CR, Walker S, Scherer SW, Tavares-Macías G, Razo-Jiménez G, Bobadilla-Morales L, Acosta-Fernández E, Corona-Rivera A, Mendoza-Londono R, Corona-Rivera JR.
Peña-Padilla C, et al. Among authors: acosta fernandez e.
Clin Genet. 2017 Apr;91(4):640-646. doi: 10.1111/cge.12924. Epub 2017 Feb 16.
Clin Genet. 2017.
PMID: 27874174
Item in Clipboard
A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene.
Corona-Rivera JR, Rios-Flores IM, Zenteno JC, Peña-Padilla C, Castillo-Reyes K, Bobadilla-Morales L, Corona-Rivera A, Acosta-Fernández E, Bruckman-Jiménez A.
Corona-Rivera JR, et al. Among authors: acosta fernandez e.
Mol Syndromol. 2024 Feb;15(1):51-57. doi: 10.1159/000531934. Epub 2023 Aug 18.
Mol Syndromol. 2024.
PMID: 38357259
Item in Clipboard
Cite
Cite