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1.
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
Hum Mol Genet;
31(16): 2766-2778, 2022 08 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-35348676
2.
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Am J Hum Genet;
108(11): 2112-2129, 2021 11 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34626534
3.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet;
107(3): 499-513, 2020 09 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32721402
4.
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
Am J Hum Genet;
104(6): 1223-1232, 2019 06 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31130282
5.
The diagnostic value of cytokines for the discrimination of vertebral osteomyelitis and degenerative diseases of the spine.
Cytokine;
150: 155782, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34933239
6.
Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation.
Hum Mutat;
41(6): 1171-1182, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32112654
7.
ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.
Am J Med Genet A;
179(12): 2474-2480, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31584751
8.
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Genet Med;
20(10): 1175-1185, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-29469822
9.
The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.
Am J Med Genet A;
176(2): 470-476, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29271604
10.
Optimizing outcomes for high-risk, non-muscle-invasive bladder cancer: The evolving role of PD-(L)1 inhibition.
Urol Oncol;
41(12): 461-475, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37968169
11.
Worldwide Prevalence of Epidermal Growth Factor Receptor Mutations in Non-Small Cell Lung Cancer: A Meta-Analysis.
Mol Diagn Ther;
26(1): 7-18, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34813053
12.
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.
Eur J Hum Genet;
29(1): 51-60, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32788663
13.
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.
Eur J Hum Genet;
29(3): 524-527, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33082526
14.
Telephone health coaching with exercise monitoring using wearable activity trackers (TeGeCoach) for improving walking impairment in peripheral artery disease: study protocol for a randomised controlled trial and economic evaluation.
BMJ Open;
10(6): e032146, 2020 06 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-32503866
15.
The diagnostic value of soluble urokinase-type plasminogen activator receptor (suPAR) for the discrimination of vertebral osteomyelitis and degenerative diseases of the spine.
J Orthop Surg Res;
14(1): 367, 2019 Nov 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-31727136
16.
Ultrafine particles and ozone perturb norepinephrine clearance rather than centrally generated sympathetic activity in humans.
Sci Rep;
9(1): 3641, 2019 03 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30842540
17.
Acute Response to Unilateral Unipolar Electrical Carotid Sinus Stimulation in Patients With Resistant Arterial Hypertension.
Hypertension;
67(3): 585-91, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26831195
18.
Preserved Autonomic Cardiovascular Regulation With Cardiac Pacemaker Inhibition: A Crossover Trial Using High-Fidelity Cardiovascular Phenotyping.
J Am Heart Assoc;
5(1)2016 Jan 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-26764413
19.
A pilot study comparison of a new method for aortic pulse wave velocity measurements using transthoracic bioimpedance and thigh cuff oscillometry with the standard tonometric method.
J Am Soc Hypertens;
9(4): 293-8, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25816714
20.
Characterization of an Equine α-S2-Casein Variant Due to a 1.3 kb Deletion Spanning Two Coding Exons.
PLoS One;
10(10): e0139700, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26444874