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1.
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.
Am J Hum Genet
; 102(6): 1204-1211, 2018 06 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29861106
2.
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.
Eur J Hum Genet
; 32(5): 576-583, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38467730
3.
Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.
Front Neurosci
; 17: 1123327, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37179546
4.
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development.
Eur J Hum Genet
; 30(5): 619-627, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35087184
5.
Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Eur J Hum Genet
; 28(4): 532, 2020 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-31506600
6.
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Eur J Hum Genet
; 27(8): 1235-1243, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30914828
7.
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.
Nat Commun
; 10(1): 410, 2019 01 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-30679432
8.
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
Hum Mutat
; 28(3): 209-21, 2007 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-17078022
9.
Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
J Clin Invest
; 112(8): 1255-63, 2003 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-14561710
10.
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
Nat Neurosci
; 19(4): 571-7, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26974950
11.
Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density.
Eur J Hum Genet
; 13(6): 781-8, 2005 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-15827564
12.
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.
Hum Mutat
; 24(2): 147-54, 2004 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-15241796
13.
Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations.
Am J Ophthalmol
; 134(5): 728-34, 2002 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-12429250
14.
Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).
Arthritis Rheum
; 51(6): 925-32, 2004 Dec 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-15593085
15.
Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene.
Ophthalmology
; 110(1): 70-7, 2003 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-12511349
16.
Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, type I collagen.
J Biol Chem
; 277(6): 4223-31, 2002 Feb 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-11704682
17.
Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology.
J Biol Chem
; 277(6): 4215-22, 2002 Feb 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-11706004
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