Search details
1.
Fragile X syndrome in the largest world clustering. I. Genetic epidemiology and founder effect outline.
Am J Med Genet A
; 194(5): e63523, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38164622
2.
Mosaicism in Fragile X syndrome: A family case series.
J Intellect Disabil
; 26(3): 800-807, 2022 Sep.
Article
in English
| MEDLINE | ID: mdl-33998336
3.
Raising Knowledge and Awareness of Fragile X Syndrome in Serbia, Georgia, and Colombia: A Model for Other Developing Countries?
Yale J Biol Med
; 94(4): 559-571, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34970093
4.
C-reactive protein, interleukin-6 and pre-eclampsia: large-scale evidence from the GenPE case-control study.
Scand J Clin Lab Invest
; 80(5): 381-387, 2020 Sep.
Article
in English
| MEDLINE | ID: mdl-32400228
5.
Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report.
BMC Ophthalmol
; 20(1): 333, 2020 Aug 17.
Article
in English
| MEDLINE | ID: mdl-32807111
6.
Genetic cluster of fragile X syndrome in a Colombian district.
J Hum Genet
; 63(4): 509-516, 2018 Apr.
Article
in English
| MEDLINE | ID: mdl-29379191
7.
Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report.
J Appl Res Intellect Disabil
; 30(5): 970-974, 2017 Sep.
Article
in English
| MEDLINE | ID: mdl-27456465
8.
[Sotos syndrome diagnosed by comparative genomic hybridisation]. / Síndrome de Sotos diagnosticado por hibridación genómica comparativa.
Rev Chil Pediatr
; 87(4): 288-92, 2016.
Article
in Spanish
| MEDLINE | ID: mdl-26692474
9.
[A case of partial 1p36.1 deletion and partial trisomy 6p diagnosed by karyotype]. / Un caso de deleción parcial 1p36.1 y trisomía parcial 6p diagnosticadas por cariotipo.
Rev Chil Pediatr
; 87(5): 395-400, 2016.
Article
in Spanish
| MEDLINE | ID: mdl-27262749
10.
[Trisomy 18 syndrome: A case report]. / Síndrome de trisomía 18. Reporte de un caso clínico.
Rev Chil Pediatr
; 87(2): 129-36, 2016.
Article
in Spanish
| MEDLINE | ID: mdl-26460083
11.
Karyotype versus genomic hybridization for the prenatal diagnosis of chromosomal abnormalities: a metaanalysis.
Am J Obstet Gynecol
; 212(3): 330.e1-10, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25305409
12.
Two extraordinarily severe cases of Treacher Collins syndrome.
Am J Med Genet A
; 161A(3): 445-52, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23401420
13.
Fragile X Syndrome in children.
Colomb Med (Cali)
; 54(2): e4005089, 2023.
Article
in English
| MEDLINE | ID: mdl-37664646
14.
Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review.
JMIR Res Protoc
; 11(6): e32986, 2022 Jun 07.
Article
in English
| MEDLINE | ID: mdl-35671071
15.
Hispano-American Brain Bank on Neurodevelopmental Disorders: An initiative to promote brain banking, research, education, and outreach in the field of neurodevelopmental disorders.
Brain Pathol
; 32(2): e13019, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34515386
16.
Myasis in uterine prolapse, successful treatment.
Am J Obstet Gynecol
; 205(3): e5-6, 2011 Sep.
Article
in English
| MEDLINE | ID: mdl-21530939
17.
Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype.
Appl Clin Genet
; 14: 305-312, 2021.
Article
in English
| MEDLINE | ID: mdl-34262328
18.
Fragile X Syndrome Secondary to in Vitro Fertilization With a Family Egg Donor: A Case Report and Review of the Literature.
J Family Reprod Health
; 15(2): 130-135, 2021 Jun.
Article
in English
| MEDLINE | ID: mdl-34721603
19.
Double Genetic Hit: Fragile X Syndrome and Partial Deletion of Protein Patched Homolog 1 Antisense as Cause of Severe Autism Spectrum Disorder.
J Dev Behav Pediatr
; 41(9): 724-728, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32947579
20.
Pentraxin-3 is a candidate biomarker on the spectrum of severity from pre-eclampsia to HELLP syndrome: GenPE study.
Hypertens Res
; 43(9): 884-891, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32284540