Detalles de la búsqueda
1.
Clinical, pathological, and molecular correlation of folliculocystic and collagen hamartoma: A new potential diagnostic criterion for tuberous sclerosis complex?
J Cutan Pathol
; 50(6): 481-486, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-36229934
2.
Unusual Trisomy X Phenotype Associated with a Concurrent Heterozygous 16p11.2 Deletion: Importance of an Integral Approach for Proper Diagnosis.
Int J Mol Sci
; 24(19)2023 Sep 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-37834089
3.
Proposed clinical approach and imaging studies in families with oculo-auriculo-vertebral spectrum to assess variable expressivity.
Am J Med Genet A
; 188(5): 1515-1525, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35119197
4.
Cleft Lip Palate in a Patient with 5q14.3 Deletion Syndrome: A Possible Unreported Feature?
Cytogenet Genome Res
; 161(12): 556-563, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-35021179
5.
Screening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate.
Cleft Palate Craniofac J
; 58(9): 1128-1134, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33334172
6.
Nonmosaic Trisomy 19p13.3p13.2 Resulting from a Rare Unbalanced t(Y;19)(q12;p13.2) Translocation in a Patient with Pachygyria and Polymicrogyria.
Cytogenet Genome Res
; 160(4): 177-184, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32369810
7.
Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene.
Am J Med Genet A
; 179(1): 118-122, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30569521
8.
Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family.
Am J Med Genet A
; 176(1): 161-166, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29150894
9.
Further delineation of achondroplasia-hypochondroplasia complex with long-term survival.
Am J Med Genet A
; 176(5): 1225-1231, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29681095
10.
Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis.
Am J Med Genet A
; 170(12): 3189-3196, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27568649
11.
An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family.
BMC Neurol
; 16(1): 147, 2016 Aug 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-27549128
12.
Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects.
Pediatr Cardiol
; 36(4): 802-8, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25524324
13.
5,10-Methylenetetrahydrofolate reductase single nucleotide polymorphisms and gene-environment interaction analysis in non-syndromic cleft lip/palate.
Eur J Oral Sci
; 122(2): 109-13, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24460828
14.
A patient with trisomy 13 mosaicism with an unusual skin pigmentary pattern and prolonged survival.
Pediatr Dermatol
; 31(5): 580-3, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24846410
15.
Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family.
Neurol India
; 66(4): 1162-1165, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30038111
16.
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.
Clin Dysmorphol
; 32(1): 7-13, 2023 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36503917
17.
Uncommon Large and Bilateral Fibrous Cephalic Plaques in a Patient with TSC2-Related Tuberous Sclerosis Complex.
Children (Basel)
; 10(10)2023 Sep 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-37892277
18.
In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening.
Children (Basel)
; 10(12)2023 Nov 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-38136067
19.
Molecular Analysis Confirms that FKRP-Related Disorders are Underdiagnosed in Mexican Patients with Neuromuscular Diseases.
Neuropediatrics
; 48(6): 442-450, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29065428
20.
The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.
Life (Basel)
; 12(11)2022 Oct 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-36362878