Search details
1.
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population.
Ann Hepatol
; 18(4): 613-619, 2019.
Article
in English
| MEDLINE | ID: mdl-31122880
2.
Brachmann-Cornelia de Lange syndrome with a papilloma of the choroid plexus: analyses of molecular genetic characteristics of the patient and the tumor. A single-case study.
Childs Nerv Syst
; 31(1): 141-6, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25064129
3.
Congenital hearing loss: a literature review of the genetic etiology in a Mexican population.
Bol Med Hosp Infant Mex
; 79(4): 206-214, 2022.
Article
in English
| MEDLINE | ID: mdl-36100214
4.
X-linked hypohidrotic ectodermal dysplasia by a de novo recurrent variant in a Mexican patient.
Bol Med Hosp Infant Mex
; 77(4): 212-217, 2020.
Article
in English
| MEDLINE | ID: mdl-32713954
5.
Out-of-pocket expenditures and care time for children with Down Syndrome: A single-hospital study in Mexico City.
PLoS One
; 14(1): e0208076, 2019.
Article
in English
| MEDLINE | ID: mdl-30629602
6.
A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome.
Case Rep Genet
; 2018: 1369413, 2018.
Article
in English
| MEDLINE | ID: mdl-30046498
7.
Monosomy 9p24 in two non-related patients as result of a translocation (2;9). / Monosomía 9p24 secundaria a translocación (2;9) en dos pacientes no relacionadas.
Arch Argent Pediatr
; 116(4): e603-e608, 2018 08 01.
Article
in Spanish
| MEDLINE | ID: mdl-30016040
8.
[Pallister-Killian syndrome in a Mexican mestizo patient. Case report]. / Síndrome de Pallister-Killian en una paciente mestiza mexicana. Reporte de caso.
Arch Argent Pediatr
; 116(1): e135-e138, 2018 Feb 01.
Article
in Spanish
| MEDLINE | ID: mdl-29333839
9.
Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.
Ophthalmic Genet
; 39(1): 56-62, 2018.
Article
in English
| MEDLINE | ID: mdl-28922055
10.
[Frequency of mucopolysaccharidoses diseases at the Hospital Infantil de México Federico Gómez]. / Frequency of mucopolysaccharidoses diseases at the hospital infantil de México Federico Gómez.
Rev Invest Clin
; 64(5): 495-6, 2012.
Article
in Spanish
| MEDLINE | ID: mdl-23544312
11.
Silver-Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient.
Clin Dysmorphol
; 31(2): 94-97, 2022 Apr 01.
Article
in English
| MEDLINE | ID: mdl-34750319
12.
Craniosynostosis, delayed closure of the fontanelle, anal, genitourinary, and skin abnormalities (CDAGS syndrome): first report in a Mexican patient and review of the literature.
Int J Dermatol
; 56(4): 435-439, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28217872
13.
Congenital hearing loss: a literature review of the genetic etiology in a Mexican population / Pérdida auditiva congénita: revisión de la etiología genética en la población mexicana
Bol. méd. Hosp. Infant. Méx
; 79(4): 206-214, Jul.-Aug. 2022. tab
Article
in English
|
LILACS-Express
| ID: biblio-1403641
14.
[Congenital macroglossia: clinical features and therapeutic strategies in paediatric patients]. / Macroglosia congénita: características clínicas y estrategias de tratamiento en la edad pediátrica.
Bol Med Hosp Infant Mex
; 73(3): 212-216, 2016.
Article
in Spanish
| MEDLINE | ID: mdl-29421209
15.
Cytogenetic profile in 1,921 cases of trisomy 21 syndrome.
Arch Med Res
; 46(6): 484-9, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-26314225
16.
Displasia ectodérmica hipohidrótica ligada al cromosoma X de novo por variante recurrente en un paciente mexicano / X-linked hypohidrotic ectodermal dysplasia by a de novo recurrent variant in a Mexican patient
Bol. méd. Hosp. Infant. Méx
; 77(4): 212-217, Jul.-Aug. 2020. graf
Article
in Spanish
| LILACS | ID: biblio-1131979
17.
Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease.
Int J Pediatr Otorhinolaryngol
; 79(11): 1886-91, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26409294
18.
[Clinical profile of a cohort of Silver-Russell syndrome patients followed at the Hospital Infantil de México Federico Gómez from 1998 to 2012]. / Perfil clínico de una cohorte de pacientes con síndrome de Silver-Russell atendidos en el Hospital Infantil de México Federico Gómez de 1998 a 2012.
Bol Med Hosp Infant Mex
; 71(4): 218-226, 2014.
Article
in Spanish
| MEDLINE | ID: mdl-29421254
19.
Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes.
BMC Med Genomics
; 7: 55, 2014 Sep 15.
Article
in English
| MEDLINE | ID: mdl-25223409
20.
Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population.
Meta Gene
; 2: 32-40, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-25606387