Detalhe da pesquisa
1.
Increased type 1 inflammation in gynecologic cervicovaginal samples in patients with APS-1.
J Allergy Clin Immunol
; 153(6): 1736-1742, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38395084
2.
Dysregulated germinal center reaction with expanded T follicular helper cells in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy lymph nodes.
J Allergy Clin Immunol
; 153(5): 1445-1455, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38128835
3.
Neurological Diseases and Prevalence of Antineuronal Antibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1 - A National Cohort Study.
J Clin Immunol
; 44(6): 140, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38829425
4.
PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families.
Calcif Tissue Int
; 114(2): 157-170, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38043102
5.
Low-grade inflammation from prenatal period to age 6-8 years in a Vitamin D trial.
Pediatr Res
; 95(6): 1578-1586, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38225452
6.
Bisphosphonate treatment for skeletal complications in paediatric cancer-Experience from a single tertiary centre.
Acta Paediatr
; 113(6): 1446-1452, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38329165
7.
A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen.
Proc Natl Acad Sci U S A
; 118(51)2021 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34911754
8.
Bone Tissue Evaluation Indicates Abnormal Mineralization in Patients with Autoimmune Polyendocrine Syndrome Type I: Report on Three Cases.
Calcif Tissue Int
; 112(6): 675-682, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36944707
9.
Nosology of genetic skeletal disorders: 2023 revision.
Am J Med Genet A
; 191(5): 1164-1209, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36779427
10.
Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy.
BMC Musculoskelet Disord
; 24(1): 735, 2023 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37710205
11.
Prenatal maternal and cord blood vitamin D concentrations and negative affectivity in infancy.
Eur Child Adolesc Psychiatry
; 32(4): 601-609, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34657965
12.
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
13.
The human cathelicidin hCAP-18 in serum of children with haemato-oncological diseases.
Br J Haematol
; 198(6): 1023-1031, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35849644
14.
Early-Onset Osteoporosis.
Calcif Tissue Int
; 110(5): 546-561, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34236445
15.
Bone mineral density in very low birthweight adults-A sibling study.
Paediatr Perinat Epidemiol
; 36(5): 665-672, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35333415
16.
Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.
Prenat Diagn
; 42(12): 1525-1537, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35611473
17.
Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1.
J Med Genet
; 58(5): 351-356, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32591345
18.
Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children.
PLoS Genet
; 15(12): e1008530, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31841498
19.
Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.
BMC Musculoskelet Disord
; 23(1): 818, 2022 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36042462
20.
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature.
Hum Mutat
; 42(1): 89-101, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33252156