Detalhe da pesquisa
1.
Adult phenotype of KCNQ2 encephalopathy.
J Med Genet;
59(6): 528-535, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33811133
2.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Am J Hum Genet;
102(1): 69-87, 2018 01 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29290338
3.
Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.
Genet Med;
22(1): 112-123, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31273343
4.
A clinical scoring system for congenital contractural arachnodactyly.
Genet Med;
22(1): 124-131, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31316167
5.
Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.
Prenat Diagn;
40(10): 1272-1283, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32436253
6.
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
PLoS Genet;
13(3): e1006683, 2017 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28346496
7.
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med;
21(6): 1295-1307, 2019 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30349098
8.
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med;
21(9): 2160-2161, 2019 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30696996
9.
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
Prenat Diagn;
38(13): 1120-1128, 2018 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30334587
10.
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Hum Mutat;
36(11): 1052-63, 2015 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26178382
11.
Episignature analysis of moderate effects and mosaics.
Eur J Hum Genet;
31(9): 1032-1039, 2023 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37365401
12.
ASC1 complex related conditions: Two novel paediatric patients with TRIP4 pathogenic variants and review of literature.
Eur J Med Genet;
65(4): 104469, 2022 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35276412
13.
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Mol Genet Genomic Med;
9(9): e1768, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34402213
14.
Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB).
Mol Genet Metab;
100(1): 51-6, 2010 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20138557
15.
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
Sci Rep;
10(1): 1289, 2020 Jan 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31992737
16.
NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?
Eur J Hum Genet;
16(3): 305-11, 2008 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18183042
17.
Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
N Engl J Med;
351(5): 460-9, 2004 Jul 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15282353
18.
Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.
Eur J Med Genet;
59(10): 522-5, 2016 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27465203
19.
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Neurology;
86(10): 954-62, 2016 Mar 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26865513
20.
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
Eur J Hum Genet;
23(2): 224-8, 2015 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24736733