Detalhe da pesquisa
1.
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
EMBO J
; 37(23)2018 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30420557
2.
Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.
Cytogenet Genome Res
; 162(3): 132-139, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896065
3.
Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations.
Cytogenet Genome Res
; 156(3): 144-149, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30508811
4.
Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity.
Cytogenet Genome Res
; 156(1): 14-21, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30086552
5.
Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.
Cytogenet Genome Res
; 152(1): 22-28, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28605748
6.
Assessment of copy number variations in 120 patients with Poland syndrome.
BMC Med Genet
; 17(1): 89, 2016 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-27884122
7.
Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment.
Cytogenet Genome Res
; 146(1): 39-43, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26112959
8.
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?
Am J Med Genet A
; 167A(3): 646-52, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691418
9.
Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.
Am J Med Genet A
; 167A(3): 537-44, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25655429
10.
Prenatal Diagnosis of an Uncommon 48,XX,+18+21 Karyotype in a Fetus With Malformations Typical of Both Trisomies.
J Ultrasound Med
; 39(11): 2277-2279, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32412111
11.
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome.
BMC Med Genet
; 15: 63, 2014 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-24885342
12.
Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.
Am J Med Genet A
; 164A(3): 801-5, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24591035
13.
Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.
BMC Med Genet
; 13: 93, 2012 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23035971
14.
MicroRNA-125b-1 and BLID upregulation resulting from a novel IGH translocation in childhood B-Cell precursor acute lymphoblastic leukemia.
Genes Chromosomes Cancer
; 49(8): 682-7, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20544842
15.
Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature.
J Genet
; 1002021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33707360
16.
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.
Front Genet
; 12: 732002, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34621295
17.
Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants.
Eur J Med Genet
; 63(1): 103618, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30684669
18.
1p31.1 microdeletion including only NEGR1 gene in two patients.
Eur J Med Genet
; 63(6): 103919, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32209393
19.
Differential diagnosis of lipoma-like lipoblastoma.
Pediatr Blood Cancer
; 52(1): 132-4, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18798558
20.
'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22.
J Genet
; 98(2)2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31204719