Detalhe da pesquisa
1.
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
Am J Med Genet A
; 194(4): e63479, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37987117
2.
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome.
J Med Genet
; 57(5): 339-346, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31924698
3.
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
J Med Genet
; 57(5): 301-307, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287593
4.
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
Genet Med
; 22(6): 1061-1068, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32099069
5.
New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.
Clin Genet
; 97(4): 639-643, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845318
6.
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
Am J Med Genet A
; 173(8): 2081-2087, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28573701
7.
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
J Med Genet
; 52(1): 61-70, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25411445
8.
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
Am J Med Genet A
; 167(6): 1252-61, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25847481
9.
An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.
JAMA Netw Open
; 7(4): e247034, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38630472
10.
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Hum Mutat
; 33(4): 728-40, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22290657
11.
Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.
Am J Med Genet A
; 158A(10): 2430-8, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22903608
12.
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication.
Neurol Genet
; 7(5): e609, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34532568
13.
Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.
Am J Med Genet A
; 152A(7): 1781-8, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20583184
14.
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.
Eur J Med Genet
; 63(4): 103814, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31770597
15.
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
NPJ Genom Med
; 4: 16, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31285849
16.
Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters.
J Genet Genomics
; 50(7): 536-540, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37116580
17.
Brief report: visual-spatial deficit in a 16-year-old girl with maternally derived duplication of proximal 15q.
J Autism Dev Disord
; 37(8): 1585-91, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17006777
18.
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
NPJ Genom Med
; 2: 32, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29263841
19.
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.
Eur J Hum Genet
; 24(6): 844-51, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26508576
20.
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
Eur J Hum Genet
; 23(8): 1010-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25351778