Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Am J Hum Genet
; 109(10): 1909-1922, 2022 10 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36044892
2.
Monozygotic twins and cholesteatomas: nature or nuture?
Eur Arch Otorhinolaryngol
; 280(12): 5649-5654, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37737872
3.
Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis.
Hum Mutat
; 43(7): 963-970, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35476365
4.
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Am J Med Genet A
; 185(8): 2445-2454, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34032352
5.
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Hum Genet
; 138(8-9): 1027-1042, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-29464339
6.
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Ann Neurol
; 81(4): 597-603, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28253535
7.
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Brain
; 140(10): 2610-2622, 2017 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28969385
8.
Urinary tract effects of HPSE2 mutations.
J Am Soc Nephrol
; 26(4): 797-804, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25145936
9.
De novo mutations in MLL cause Wiedemann-Steiner syndrome.
Am J Hum Genet
; 91(2): 358-64, 2012 Aug 10.
Artigo
Inglês
| MEDLINE | ID: mdl-22795537
10.
Zellweger syndrome and secondary mitochondrial myopathy.
Eur J Pediatr
; 174(4): 557-63, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25287621
11.
Identification of people with autosomal dominant polycystic kidney disease using routine data: a cross sectional study.
BMC Nephrol
; 15: 182, 2014 Nov 20.
Artigo
Inglês
| MEDLINE | ID: mdl-25412767
12.
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.
Am J Hum Genet
; 85(3): 414-8, 2009 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-19732862
13.
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome.
J Med Genet
; 48(4): 273-8, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21266384
14.
X-linked cataract and Nance-Horan syndrome are allelic disorders.
Hum Mol Genet
; 18(14): 2643-55, 2009 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-19414485
15.
Multidisciplinary surgical management of cherubism complicated by neurofibromatosis type 1.
J Craniofac Surg
; 22(6): 2318-22, 2011 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22134267
16.
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.
Hum Mutat
; 31(8): E1622-31, 2010 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-20564469
17.
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
Hum Mutat
; 31(9): 992-1002, 2010 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-20556798
18.
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Commun Biol
; 3(1): 180, 2020 04 20.
Artigo
Inglês
| MEDLINE | ID: mdl-32313182
19.
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Nat Commun
; 11(1): 1044, 2020 02 25.
Artigo
Inglês
| MEDLINE | ID: mdl-32098966
20.
A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding.
Brain Dev
; 39(3): 271-274, 2017 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-27793435