Detalhe da pesquisa
1.
TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient.
Mol Genet Metab
; 142(1): 108469, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38564972
2.
Clinical insights from an unusual Turner syndrome manifestation: Congenital cutis verticis gyrata.
Am J Med Genet A
; 191(6): 1669-1671, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36932882
3.
Aneurysms involving the coronary arteries in a neonate with neurofibromatosis 1.
Am J Med Genet A
; 191(9): 2422-2427, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37278515
4.
Complete blood count differences in a cohort of Down syndrome neonates with transient abnormal myelopoiesis screened for GATA1 pathogenic variants.
Am J Med Genet A
; 182(9): 2085-2093, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681702
5.
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.
Am J Med Genet A
; 182(5): 1223-1229, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32022998
6.
Intraoperative Findings Associated to Inpatient Mortality From Patients With Gastroschisis in Western Mexico.
J Surg Res
; 254: 58-63, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32417497
7.
Maternal risk factors for congenital heart defects in infants with Down syndrome from Western Mexico.
Am J Med Genet A
; 179(9): 1857-1865, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31321895
8.
Prevalence and risk factors for Down syndrome: A hospital-based single-center study in Western Mexico.
Am J Med Genet A
; 179(3): 435-441, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30666778
9.
Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review.
Fetal Pediatr Pathol
; 38(5): 412-417, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31002276
10.
Severe Craniofacial Involvement due to Amniotic Band Sequence.
Fetal Pediatr Pathol
; 37(1): 27-37, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29336649
11.
Descriptive study of the complete blood count in newborn infants with Down syndrome.
Am J Med Genet A
; 173(4): 897-904, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28168815
12.
Oblique facial clefts in Johanson-Blizzard syndrome.
Am J Med Genet A
; 170(6): 1495-501, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26989884
13.
Associated congenital anomalies in infants with isolated gastroschisis: A single-institutional experience.
Am J Med Genet A
; 170A(2): 316-321, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26464049
14.
Co-occurrence of hemiscrotal agenesis with cutis marmorata telangiectatica congenita and hydronephrosis affecting the same side of the body.
Am J Med Genet A
; 164A(1): 199-203, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24243754
15.
MTHFR 677C>T and 1298A>C Variants in Mothers of Infants with Down Syndrome from Western Mexico.
Genet Test Mol Biomarkers
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38717090
16.
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.
Mol Syndromol
; 15(1): 51-57, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38357259
17.
[Ataxia telangiectasia. Diagnosis and follow-up in 4 cases]. / Ataxia telangiectasia. Diagnóstico y seguimiento en una serie de cuatro casos.
Gac Med Mex
; 149(4): 448-53, 2013.
Artigo
em Espanhol
| MEDLINE | ID: mdl-23999637
18.
Identification of a Small Supernumerary Marker Chromosome in a Turner Syndrome Patient with Karyotype mos 46,X,+mar/45,X.
Genes (Basel)
; 14(2)2023 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833181
19.
MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype.
Eur J Med Genet
; 66(10): 104826, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37657631
20.
First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations.
Mol Syndromol
; 14(2): 143-151, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37064331