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.
Usefulness of the MS-MLPA technique in the diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
Gac Med Mex
; 158(4): 202-209, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36256576
5.
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
6.
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
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.
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
11.
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
12.
MTHFR 677C>T and 1298A>C Variants in Mothers of Infants with Down Syndrome from Western Mexico.
Genet Test Mol Biomarkers
; 28(6): 263-266, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38717090
13.
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
14.
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
15.
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
16.
[Genetic aspects involved in asthma]. / Aspectos genéticos implicados en el asma.
Rev Alerg Mex
; 69(1): 21-30, 2022 May 28.
Artigo
em Espanhol
| MEDLINE | ID: mdl-36927748
17.
Frequency of chromosome 22q11.2 deletion among newborns with non-syndromic congenital heart defects from western Mexico.
Bol Med Hosp Infant Mex
; 79(6): 369-375, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36476817
18.
Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome.
Eur J Med Genet
; 65(12): 104653, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36330903
19.
MTHFR C677T and A1298C variants in Mexican Mestizo infants with neural tube defects from Western Mexico.
Congenit Anom (Kyoto)
; 61(5): 188-192, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34015145
20.
Third case of Duchenne muscular dystrophy and West syndrome: Expanding the spectrum of the DMD neuropsychiatric phenotype.
Neuromuscul Disord
; 31(5): 462-465, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33741226