Detalhe da pesquisa
1.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Brain
; 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38038360
2.
Optical coherence tomography angiography findings in Williams-Beuren syndrome.
Graefes Arch Clin Exp Ophthalmol
; 262(4): 1131-1140, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38032380
3.
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.
Am J Med Genet B Neuropsychiatr Genet
; : e32976, 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38385826
4.
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
Clin Genet
; 104(2): 230-237, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37038048
5.
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases.
Am J Med Genet A
; 191(2): 605-611, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36416235
6.
Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?
Am J Med Genet A
; 191(6): 1586-1592, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36843271
7.
Celiac disease prevalence and predisposing-HLA in a cohort of 93 Williams-Beuren syndrome patients.
Am J Med Genet A
; 191(1): 84-89, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36254687
8.
Ocular features in Williams-Beuren syndrome: a review of the literature.
Curr Opin Ophthalmol
; 34(6): 514-521, 2023 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37589562
9.
Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature.
BMC Neurol
; 22(1): 118, 2022 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35331151
10.
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Int J Mol Sci
; 23(11)2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35682590
11.
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.
Calcif Tissue Int
; 105(2): 215-221, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31129707
12.
Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1.
Cytogenet Genome Res
; 153(2): 73-80, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29258113
13.
Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.
BMC Med Genet
; 18(1): 115, 2017 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29047350
14.
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Eur Radiol
; 27(12): 5080-5092, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28677066
15.
FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
Am J Hum Genet
; 92(6): 990-5, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23684011
16.
Assessment of copy number variations in 120 patients with Poland syndrome.
BMC Med Genet
; 17(1): 89, 2016 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-27884122
17.
Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.
J Hum Genet
; 61(4): 283-93, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26657932
18.
Increased RISK for 47,XXY on cell-free DNA screen: Not always Klinefelter syndrome.
Prenat Diagn
; 41(10): 1255-1257, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33370473
19.
Prenatal ultrasound factors and genetic disorders in pregnancies complicated by polyhydramnios.
Prenat Diagn
; 36(8): 726-30, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27247190
20.
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis.
Clin Genet
; 98(6): 628-629, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33058178