Detalhe da pesquisa
1.
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
J Med Genet
; 59(6): 559-567, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33820833
2.
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
J Clin Immunol
; 41(5): 958-966, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33534079
3.
Corrigendum to: DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome.
Hum Mol Genet
; 31(12): 2106-2107, 2022 Jun 22.
Artigo
Inglês
| MEDLINE | ID: mdl-34918050
4.
Hippocampal Radial Glial Subtypes and Their Neurogenic Potential in Human Fetuses and Healthy and Alzheimer's Disease Adults.
Cereb Cortex
; 28(7): 2458-2478, 2018 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29722804
5.
Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.
Am J Med Genet A
; 176(11): 2325-2330, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30328679
6.
Dynamic Expression Patterns of Progenitor and Neuron Layer Markers in the Developing Human Dentate Gyrus and Fimbria.
Cereb Cortex
; 27(1): 358-372, 2017 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26443441
7.
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.
Am J Med Genet A
; 173(2): 479-486, 2017 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-27623003
8.
Dynamic Expression Patterns of Progenitor and Pyramidal Neuron Layer Markers in the Developing Human Hippocampus.
Cereb Cortex
; 26(3): 1255-71, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25882041
9.
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
Am J Hum Genet
; 92(1): 144-9, 2013 Jan 10.
Artigo
Inglês
| MEDLINE | ID: mdl-23273569
10.
Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy.
Ann Neurol
; 78(3): 387-400, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26018399
11.
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
Prenat Diagn
; 36(8): 744-51, 2016 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-27297286
12.
Safety study of Ciprofloxacin in newborn mice.
Regul Toxicol Pharmacol
; 74: 161-9, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26627140
13.
CD117hi expression identifies a human fetal hematopoietic stem cell population with high proliferation and self-renewal potential.
Haematologica
; 105(2): e43-e47, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-31248971
14.
Biochemical analysis of ascites fluid as an aid to etiological diagnosis: a series of 100 cases of nonimmune fetal ascites.
Prenat Diagn
; 35(3): 214-20, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25346315
15.
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Prenat Diagn
; 35(7): 675-84, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25754886
16.
Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.
Am J Med Genet A
; 164A(10): 2504-9, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-24975584
17.
Fetal phenotype associated with the 22q11 deletion.
Am J Med Genet A
; 164A(11): 2724-31, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25111715
18.
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
J Med Genet
; 50(2): 91-8, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-23339108
19.
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
Nat Genet
; 37(9): 964-8, 2005 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-16116425
20.
Monocytic cells derived from human embryonic stem cells and fetal liver share common differentiation pathways and homeostatic functions.
Blood
; 117(11): 3065-75, 2011 Mar 17.
Artigo
Inglês
| MEDLINE | ID: mdl-21149635