Detalhe da pesquisa
1.
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
J Hum Genet
; 66(10): 995-1008, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875766
2.
Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment.
Acta Paediatr
; 109(10): 2067-2074, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32037650
3.
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
Hum Mutat
; 39(10): 1456-1467, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30080953
4.
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
J Hum Genet
; 62(4): 503-506, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28123176
5.
FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
Am J Hum Genet
; 92(6): 990-5, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23684011
6.
Autosomal recessive brachyolmia: early radiological findings.
Skeletal Radiol
; 45(11): 1557-60, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27544198
7.
Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.
Am J Med Genet A
; 164A(7): 1635-41, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24677493
8.
Growth charts and long-term sequelae in extreme preterm infants--from full-term age to 10 years.
Acta Paediatr
; 103(1): 38-47, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24354572
9.
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
Hum Mutat
; 34(10): 1381-6, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23824674
10.
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
NPJ Genom Med
; 8(1): 39, 2023 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37993442
11.
Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up.
Front Endocrinol (Lausanne)
; 13: 862908, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35769074
12.
Visual impairment is common in children born before 25 gestational weeks--boys are more vulnerable than girls.
Acta Paediatr
; 98(2): 261-5, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18823297
13.
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.
Nat Med
; 25(4): 583-590, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30804514
14.
Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort.
Front Endocrinol (Lausanne)
; 9: 96, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29599748
15.
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.
J Bone Miner Res
; 33(4): 753-760, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29178448