Detalhe da pesquisa
1.
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Am J Hum Genet
; 97(3): 483-92, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26320891
2.
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.
J Hum Genet
; 63(11): 1169-1180, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30181649
3.
Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis.
Reprod Sci
; 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38448741
4.
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
5.
Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.
J Med Genet
; 48(10): 716-20, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21931173
6.
Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome.
Eur J Med Genet
; 63(5): 103877, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32028042
7.
Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review.
Mol Cytogenet
; 13: 42, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32939224
8.
Interstitial deletion of 2q24.2: further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine growth restriction.
Am J Med Genet A
; 164A(3): 824-7, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357343
9.
Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.
Mol Vis
; 14: 1650-8, 2008 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-18776953
10.
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
Neurology
; 81(11): 992-8, 2013 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23935176
11.
[First two Mexican cases of monosomy 1p36: possible diagnosis in patients with mental retardation and dysmorphism]. / Primeros casos de monosomía 1p36 en México: diagnóstico a considerar en pacientes con retraso mental y dismorfas.
Arch Argent Pediatr
; 109(3): e55-8, 2011 Jun.
Artigo
em Espanhol
| MEDLINE | ID: mdl-21660378
12.
Primeros casos de monosomía 1p36 en México: diagnóstico a considerar en pacientes con retraso mental y dismorfias / First two Mexican cases of monosomy 1p36: possible diagnosis in patients with mental retardation and dysmorphism
Arch. argent. pediatr
; 109(3): e55-e58, jun. 2011. ilus
Artigo
em Espanhol
| LILACS | ID: lil-602398