Detalhe da pesquisa
1.
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.
Am J Med Genet A
; : e63580, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38511524
2.
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Am J Med Genet A
; 188(10): 2958-2968, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904974
3.
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.
Int J Mol Sci
; 23(21)2022 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36361691
4.
Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.
Am J Med Genet A
; 185(1): 242-249, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098373
5.
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Am J Med Genet A
; 185(8): 2417-2433, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34042254
6.
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.
Int J Mol Sci
; 22(2)2021 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33451138
7.
A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis.
Clin Genet
; 97(6): 927-932, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32170730
8.
PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.
Am J Med Genet A
; 182(12): 3014-3022, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32985083
9.
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
Neurogenetics
; 20(3): 145-154, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31209758
10.
Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.
Ann Hum Genet
; 83(2): 100-109, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30302754
11.
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.
Am J Med Genet A
; 179(8): 1615-1621, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31145527
12.
Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome.
Int J Mol Sci
; 20(6)2019 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-30909440
13.
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
Neurogenetics
; 19(2): 111-121, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691679
14.
First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated Disorder.
Cytogenet Genome Res
; 156(2): 87-94, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30372694
15.
An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome.
Am J Med Genet A
; 176(12): 2781-2786, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30289615
16.
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
Am J Med Genet B Neuropsychiatr Genet
; 177(4): 397-405, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29603867
17.
Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.
Cytogenet Genome Res
; 151(4): 179-185, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28478456
18.
A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum.
Am J Med Genet A
; 167A(4): 797-801, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25735547
19.
Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication.
Neurol Sci
; 41(12): 3751-3753, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32529320
20.
Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome.
Genes (Basel)
; 15(1)2024 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38254992