Detalhe da pesquisa
1.
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.
Blood
; 138(21): 2117-2128, 2021 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34115847
2.
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.
Am J Hum Genet
; 104(3): 439-453, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773278
3.
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.
Am J Med Genet A
; 182(2): 338-347, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31755234
4.
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Am J Hum Genet
; 98(6): 1243-1248, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27236923
5.
Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.
BMC Med Genet
; 20(1): 70, 2019 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31053099
6.
Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.
Am J Hum Genet
; 96(2): 266-74, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25620203
7.
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.
Am J Med Genet A
; 173(3): 588-595, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28127940
8.
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.
Am J Med Genet A
; 173(4): 1102-1108, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328135
9.
Autosomal dominant brachyolmia: transient metaphyseal striations.
Skeletal Radiol
; 46(9): 1297-1300, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28601949
10.
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.
Genet Med
; 18(6): 563-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26402641
11.
SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.
J Hum Genet
; 61(6): 561-4, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26791357
12.
Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.
Am J Med Genet A
; 170A(2): 426-434, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26567084
13.
Subcutaneous intravascular papillary endothelial hyperplasia: ultrasound features and pathological correlation.
Skeletal Radiol
; 45(2): 227-33, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26559670
14.
Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis.
J Korean Med Sci
; 31(5): 735-42, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27134495
15.
Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
Hum Mutat
; 36(10): 1004-8, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26183434
16.
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
Hum Mutat
; 36(2): 191-5, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25402547
17.
A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
Am J Hum Genet
; 91(2): 343-8, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22863190
18.
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).
Mol Genet Metab
; 115(1): 41-7, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25892708
19.
Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1).
Am J Med Genet A
; 167A(5): 1033-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728306
20.
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
Am J Med Genet A
; 167(7): 1501-9, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25808063