Detalhe da pesquisa
1.
Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.
Am J Hum Genet
; 105(6): 1102-1111, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31679651
2.
Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape.
Hum Genet
; 139(4): 531-543, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32030560
3.
Oocyte maturation arrest produced by TUBB8 mutations: impact of genetic disorders in infertility treatment.
Gynecol Endocrinol
; 36(9): 829-834, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32063091
4.
27 years of prenatal diagnosis for Huntington disease in the United Kingdom.
Genet Med
; 21(7): 1639-1643, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30546084
5.
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Hum Mutat
; 38(1): 7-15, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27667302
6.
Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome.
Am J Med Genet A
; 170(7): 1934-7, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27139419
7.
Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence.
Am J Med Genet A
; 167A(2): 282-6, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25427842
8.
Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case.
Am J Med Genet A
; 161A(6): 1470-4, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23636874
9.
Y chromosome microdeletions in Mexican males of couples with idiopathic recurrent pregnancy loss.
J Obstet Gynaecol Res
; 38(6): 912-7, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22486969
10.
Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management.
Eur J Med Genet
; 64(3): 104140, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33524610
11.
Resolving Breakpoints of Chromosomal Rearrangements at the Nucleotide Level Using Sanger Sequencing.
Curr Protoc Hum Genet
; 108(1): e107, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369263
12.
Natural-cycle in vitro fertilization (IVF) combined with in vitro maturation in infertile patients with polycystic ovarian syndrome (PCOS) requiring IVF.
Taiwan J Obstet Gynecol
; 58(2): 192-195, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30910137
13.
A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing.
Bol Med Hosp Infant Mex
; 76(1): 49-53, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30657467
14.
[Colestasis por deficiencia de 3b-Δ5-C27-hidroxiesteroide deshidrogenasa en un paciente con alteración en la síntesis de ácidos biliares]. / Cholestasis due to deficiency of 3b-Δ5-C27-hydroxysteroid dehydrogenase in a patient with altered bile acid synthesis.
Bol Med Hosp Infant Mex
; 75(5): 313-318, 2018.
Artigo
em Espanhol
| MEDLINE | ID: mdl-30250332
15.
Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.
World J Gastroenterol
; 21(3): 1001-8, 2015 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25624737
16.
Are Y chromosome microdeletions and recurrent pregnancy loss really associated?
Am J Obstet Gynecol
; 201(5): e9; author reply e9-10, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19608147
17.
Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease.
Case Rep Neurol Med
; 2014: 785890, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25349751
18.
A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing / Mutación de novo recurrente en el gen ATP1A3 en una paciente mexicana con hemiplejia alternante de la infancia detectada por secuenciación masiva en paralelo
Bol. méd. Hosp. Infant. Méx
; 76(1): 49-53, ene.-feb. 2019. graf
Artigo
em Inglês
| LILACS | ID: biblio-1038891
19.
Bringing together clinical embryology and basic reproduction around human cloning.
Hum Reprod
; 23(12): 2875-6, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18854407
20.
Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.
Eur J Med Genet
; 56(3): 159-62, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23232253