Detalhe da pesquisa
1.
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Clin Genet
; 105(3): 294-301, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044714
2.
Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants.
Hum Mutat
; 42(7): 827-834, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33942450
3.
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
em Inglês
| MEDLINE | ID: mdl-32279304
4.
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.
Am J Hum Genet
; 97(6): 790-800, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637975
5.
Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.
Mol Genet Metab
; 123(4): 463-471, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29478817
6.
FOXP1-related intellectual disability syndrome: a recognisable entity.
J Med Genet
; 54(9): 613-623, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28735298
7.
Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
Am J Med Genet A
; 170(11): 2927-2933, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27333055
8.
A second case of Okamoto syndrome caused by HNRNPK mutation.
Am J Med Genet A
; 182(6): 1537-1539, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32222014
9.
Erratum: Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
HGG Adv
; 4(1): 100168, 2023 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36583168
10.
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
HGG Adv
; 3(3): 100102, 2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35469323
11.
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
Genes (Basel)
; 12(8)2021 08 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440449
12.
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
13.
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Neurol Genet
; 7(6): e613, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34790866
14.
Unexpected pulseless disease associated with recurrent venous thromboembolisms.
Clin Appl Thromb Hemost
; 15(2): 239-40, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-18160606
15.
Severe ostial stenosis of the left coronary artery in a 12-year-old girl as the first manifestation of Takayasu's arteritis.
Acta Cardiol
; 64(6): 825-9, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20128165
16.
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.
Eur J Med Genet
; 61(12): 733-737, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29883675
17.
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.
Eur J Med Genet
; 61(8): 442-450, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29510240
18.
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Eur J Hum Genet
; 26(1): 64-74, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29180823
19.
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
20.
A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation.
Eur J Med Genet
; 57(5): 212-5, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24613578