Detalhe da pesquisa
1.
varAmpliCNV: analyzing variance of amplicons to detect CNVs in targeted NGS data.
Bioinformatics
; 39(1)2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36440912
2.
Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.
Int J Mol Sci
; 22(13)2021 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34281165
3.
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.
J Med Genet
; 56(4): 220-227, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29967133
4.
Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.
Hum Mutat
; 36(8): 808-14, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25907466
5.
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.
Am J Med Genet A
; 161A(5): 1028-35, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23554019
6.
Targeted Next-Generation Sequencing in Children With Bilateral Sensorineural Hearing Loss: Diagnostic Yield and Predictors of a Genetic Cause.
Otol Neurotol
; 44(4): 360-366, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36804529
7.
Etiological Work-up in Referrals From Neonatal Hearing Screening: 20 Years of Experience.
Otol Neurotol
; 41(9): 1240-1248, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32925850
8.
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.
Eur J Hum Genet
; 27(7): 1044-1053, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30796334
9.
Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients.
Mitochondrion
; 8(5-6): 377-82, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18790089
10.
Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.
Otol Neurotol
; 39(6): 732-738, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29889784
11.
Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.
Eur J Hum Genet
; 26(4): 587-591, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29449721
12.
Novel human pathological mutations. Gene symbol: SLC26A4. Disease: deafness, non-syndromic, autosomal recessive.
Hum Genet
; 127(4): 471, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21488278
13.
Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive.
Hum Genet
; 127(1): 116, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20108392
14.
Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Pendred syndrome.
Hum Genet
; 127(4): 468-9, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21488234
15.
KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation.
Acta Derm Venereol
; 85(2): 152-5, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-15823911
16.
An interstitial deletion of chromosome 7 at band q21: a case report and review.
Am J Med Genet A
; 134A(1): 12-23, 2005 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15732063
17.
Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene.
Eur J Pediatr
; 162(10): 674-7, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12920581