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1.
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
Am J Hum Genet
; 105(2): 403-412, 2019 08 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31303265
2.
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Am J Hum Genet
; 102(3): 468-479, 2018 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29429572
3.
Detection of structural mosaicism from targeted and whole-genome sequencing data.
Genome Res
; 27(10): 1704-1714, 2017 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28855261
4.
Use of Both Qualitative and Quantitative Methods to Estimate Meaningful Change Thresholds for Key Endpoints in Pediatric Asthma Trials.
Value Health
; 22(3): 340-347, 2019 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-30832972
5.
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
J Med Genet
; 55(6): 384-394, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29386252
6.
Asthma control using fluticasone propionate/salmeterol in Asian and non-Asian populations: a post hoc analysis of the GOAL study.
BMC Pulm Med
; 17(1): 75, 2017 Apr 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-28454528
7.
Randomized Trial of Once-Daily Fluticasone Furoate in Children with Inadequately Controlled Asthma.
J Pediatr
; 178: 246-253.e2, 2016 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-27622699
8.
Randomised trial of once-daily vilanterol in children with asthma on inhaled corticosteroid therapy.
Respir Res
; 17: 37, 2016 Apr 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-27044326
9.
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Brain
; 137(Pt 4): 1030-8, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24566669
10.
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.
Clin Endocrinol (Oxf)
; 78(6): 898-906, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23072324
12.
COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.
Neuropediatrics
; 43(5): 283-8, 2012 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-22932948
13.
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Hum Mutat
; 31(10): 1142-54, 2010 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-20672375
14.
Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.
Am J Med Genet A
; 152A(8): 1951-9, 2010 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-20635359
15.
A randomized, double-blind, placebo-controlled, parallel-group study of once-daily inhaled fluticasone furoate on the hypothalamic-pituitary-adrenocortical axis of children with asthma.
Allergy Asthma Clin Immunol
; 16: 11, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32042286
16.
Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature.
Am J Med Genet A
; 149A(7): 1407-14, 2009 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-19533800
17.
15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.
Am J Med Genet A
; 149A(2): 147-54, 2009 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-19133692
18.
Knemometry Assessment of Short-term Growth in Children With Asthma Receiving Fluticasone Furoate for 2 Weeks: A Randomized, Placebo-controlled, Crossover Trial.
Clin Ther
; 39(6): 1191-1199, 2017 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-28545804
19.
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
Eur J Med Genet
; 60(2): 130-135, 2017 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-27915094
20.
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.
J Clin Endocrinol Metab
; 102(11): 4013-4022, 2017 11 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28973655