Detalhe da pesquisa
1.
Further delineation of achondroplasia-hypochondroplasia complex with long-term survival.
Am J Med Genet A
; 176(5): 1225-1231, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681095
2.
Frequent copy number variants in a cohort of Mexican-Mestizo individuals.
Mol Cytogenet
; 16(1): 2, 2023 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36631885
3.
Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico.
Front Genet
; 14: 1293929, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38327701
4.
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
5.
Detection of short-term chromosomal damage due to therapeutic 131I exposure in patients with thyroid cancer.
Rev Invest Clin
; 62(1): 31-8, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20415057
6.
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
7.
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
8.
Acrocentric cryptic translocation associated with nondisjunction of chromosome 21.
Am J Med Genet A
; 146A(1): 97-102, 2008 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18074364
9.
Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics.
Mol Cytogenet
; 11: 30, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29760780
10.
7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.
Mol Cytogenet
; 10: 42, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29177010
11.
Detection of mosaicism in lymphocytes of parents of free trisomy 21 offspring.
Mutat Res
; 520(1-2): 25-37, 2002 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-12297141
12.
Patient follow-up is a major problem at genetics clinics.
Am J Med Genet A
; 125A(2): 162-6, 2004 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-14981717
13.
Identificación de cromosomas sexuales marcadores mediante hibridación in situ con fluorescencia (FISH) / Identification of sex chomosome markers using fluorescence in situ hybridization (FISH)
Rev. invest. clín
; 47(2): 117-25, mar.-abr. 1995. tab, ilus
Artigo
em Espanhol
| LILACS | ID: lil-158863
14.
Estudio de heterogeneidad genética en anemia de Fanconi por medio de la adición del plasma / Genetic heterogenicity study in Fanconis anemia by the addition of plasma
Rev. invest. clín
; 38(3): 269-71, jul.-sept. 1986. tab
Artigo
em Espanhol
| LILACS | ID: lil-104129
15.
Displasia mandíbulo acral en un paciente pediátrico mexicano / Mandibulo acral dysplasia in a Mexican children
Bol. méd. Hosp. Infant. Méx
; 56(5): 259-64, mayo 1999. ilus
Artigo
em Espanhol
| LILACS | ID: lil-266229
16.
Microtia: A clinical and genetic study at the National Institute of Pediatrics in Mexico City
Arch. med. res
; 30(2): 120-4, mar.-abr. 1999. tab, ilus
Artigo
em Inglês
| LILACS | ID: lil-256634
17.
Detección de aneuploidías por hibridación in situ en células de mucosa oral / Detection of aneuploides in bucal mucosa by in situ hibridization
Rev. invest. clín
; 48(5): 355-60, sept.-oct. 1996. tab, ilus
Artigo
em Espanhol
| LILACS | ID: lil-184203
18.
Ambigüedad de genitales I. Abordaje inicial del paciente / Ambigous genitalia. Initial diagnosis approach
Acta pediátr. Méx
; 15(5): 249-55, sept.-oct. 1994.
Artigo
em Espanhol
| LILACS | ID: lil-188169
19.
Estudio demanda y uso de servicios de salud materno infantil: Un enfoque cualitativo desde la perspectiva de las mujeres de los sectores urbano populares de Lima / Study of demand o use of maternal and child health services : Qualitative focus on the perpective of women from urban sectors of Lima
Lima; Organización Panamericana de la Salud; abr. 1994. 73 p. Tab.
Monografia
em Espanhol
| PAHO | ID: pah-246608