Detalhe da pesquisa
1.
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder.
J Hum Genet
; 69(6): 287-290, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38448605
2.
Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene.
Pediatr Res
; 93(5): 1208-1215, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35953512
3.
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.
Hum Mol Genet
; 29(18): 3122-3131, 2020 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32959051
4.
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.
Clin Genet
; 102(1): 56-60, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35246835
5.
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
Hum Mutat
; 39(12): 1885-1900, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30161288
6.
Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report.
BMC Med Genet
; 19(1): 129, 2018 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-30053855
7.
A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.
Am J Med Genet A
; 176(9): 2028-2033, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30194892
8.
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
J Hum Genet
; 61(9): 811-21, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27225849
9.
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
J Inherit Metab Dis
; 36(1): 43-53, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22569581
10.
Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.
Brain
; 139(Pt 1): e1, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26209315
11.
Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.
Mol Vis
; 17: 2482-94, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21976959
12.
Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes.
Eur J Hum Genet
; 29(12): 1745-1755, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33737726
13.
Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.
Mol Genet Metab
; 99(1): 42-52, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19782624
14.
Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.
Genes (Basel)
; 11(4)2020 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32244554
15.
Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy.
J Nephrol
; 22(1): 152-9, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19229831
16.
A novel mutation in the fibrinogen γ-chain gene c.952G>T, p. (Gly318Cys) leading to hypo dysfibrinogenemia.
Thromb Res
; 234: 59-62, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38159325
17.
Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.
Genet Test
; 12(3): 351-5, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18752446
18.
Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers.
BMC Res Notes
; 11(1): 911, 2018 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30572950
19.
A combined approach to the molecular analysis of cystinuria: from urinalysis to sequencing via genotyping.
Isr Med Assoc J
; 9(7): 513-6, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17710781
20.
Leber's hereditary optic neuropathy (LHON) in an Apulian cohort of subjects.
Acta Myol
; 36(3): 163-177, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29774306