Detalhe da pesquisa
1.
Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance.
EMBO Rep
; 22(2): e50785, 2021 02 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33426789
2.
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
PLoS Biol
; 17(9): e3000414, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31479441
3.
Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
PLoS Biol
; 17(10): e3000520, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-31593567
4.
Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.
J Am Soc Nephrol
; 28(3): 963-970, 2017 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-27659767
5.
Burden of hyperphagia and obesity in Bardet-Biedl syndrome: a multicountry survey.
Orphanet J Rare Dis
; 18(1): 182, 2023 Jul 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37415189
6.
Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study.
Orphanet J Rare Dis
; 18(1): 181, 2023 Jul 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37415214
7.
Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results.
Orphanet J Rare Dis
; 18(1): 12, 2023 01 16.
Artigo
Inglês
| MEDLINE | ID: mdl-36647077
8.
Implications of Antimuscarinic Autoantibodies in Postural Tachycardia Syndrome.
J Cardiovasc Transl Res
; 15(2): 438-440, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34409582
9.
Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
Lancet Diabetes Endocrinol
; 10(12): 859-868, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36356613
10.
Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts.
EBioMedicine
; 70: 103515, 2021 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-34365092
11.
The Role of GnRH Receptor Autoantibodies in Polycystic Ovary Syndrome.
J Endocr Soc
; 4(8): bvaa078, 2020 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32803090
12.
A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome.
Am J Med Genet A
; 149A(10): 2075-9, 2009 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-19760648
13.
A functional cell-based bioassay for assessing adrenergic autoantibody activity in postural tachycardia syndrome.
J Transl Autoimmun
; 2: 100006, 2019 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-32743496
14.
Fluorescence approaches to growing macromolecule crystals.
Methods Mol Biol
; 426: 377-85, 2008.
Artigo
Inglês
| MEDLINE | ID: mdl-18542877
15.
Managing Bardet-Biedl Syndrome-Now and in the Future.
Front Pediatr
; 6: 23, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29487844
16.
The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population.
J Clin Endocrinol Metab
; 103(5): 1834-1841, 2018 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29409041
17.
Toward personalized medicine in Bardet-Biedl syndrome.
Per Med
; 14(5): 447-456, 2017 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29754569
18.
Bardet-Biedl syndrome.
Eur J Hum Genet
; 21(1): 8-13, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22713813
19.
Longevity and Patau syndrome: what determines survival?
BMJ Case Rep
; 20122012 Dec 06.
Artigo
Inglês
| MEDLINE | ID: mdl-23220825
20.
One in 10 million: a case of cleidocranial dysplasia and acute lymphoblastic leukaemia--more than just a coincidence?
Clin Dysmorphol
; 21(3): 170-171, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22569278