Detalhe da pesquisa
1.
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Am J Hum Genet
; 2024 May 10.
Artigo
Inglês
| MEDLINE | ID: mdl-38744284
2.
Growth charts in DYRK1A syndrome.
Am J Med Genet A
; 194(1): 9-16, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37740550
3.
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Am J Med Genet A
; 191(2): 445-458, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36369750
4.
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Clin Genet
; 101(3): 307-316, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34866188
5.
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Clin Genet
; 102(2): 117-122, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35470444
6.
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genet Med
; 23(11): 2150-2159, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34345024
7.
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
Hum Genet
; 139(4): 461-472, 2020 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-31980905
8.
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
Genet Med
; 22(10): 1613-1622, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32565547
9.
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
Clin Genet
; 98(1): 43-55, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32279304
10.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Am J Hum Genet
; 98(3): 541-552, 2016 Mar 03.
Artigo
Inglês
| MEDLINE | ID: mdl-26942287
11.
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Prenat Diagn
; 39(11): 986-992, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31273809
12.
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Genet Med
; 19(9): 989-997, 2017 09.
Artigo
Inglês
| MEDLINE | ID: mdl-28151489
13.
1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.
Genet Mol Biol
; 39(3): 349-57, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27561113
14.
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.
Am J Med Genet A
; 167A(1): 111-22, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25425167
15.
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.
BMC Med Genet
; 15: 128, 2014 Dec 04.
Artigo
Inglês
| MEDLINE | ID: mdl-25472632
16.
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
J Med Genet
; 50(3): 174-86, 2013 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23315542
17.
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.
Hum Genet
; 132(10): 1177-85, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23783460
18.
Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome.
Am J Med Genet A
; 161A(3): 572-7, 2013 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23401077
19.
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
J Med Genet
; 49(10): 660-8, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23054248
20.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
J Med Genet
; 49(12): 737-46, 2012 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23188108