Detalhe da pesquisa
1.
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
J Med Genet
; 60(10): 965-973, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197784
2.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
; 60(7): 644-654, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446582
3.
PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients.
Childs Nerv Syst
; 2024 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38407606
4.
Childhood B-Cell Preleukemia Mouse Modeling.
Int J Mol Sci
; 23(14)2022 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35886910
5.
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
Clin Endocrinol (Oxf)
; 88(6): 820-829, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29464738
6.
Non-Mammalian Models for Understanding Neurological Defects in RASopathies.
Biomedicines
; 12(4)2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38672195
7.
Normal range for acid-labile subunit in paediatric patients in Spain and its association with age, sex, pubertal stage and other growth factors.
An Pediatr (Engl Ed)
; 98(5): 329-337, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37105787
8.
Lessons from mouse models in the impact of risk factors on the genesis of childhood B-cell leukemia.
Front Immunol
; 14: 1285743, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37901253
9.
Immune stress suppresses innate immune signaling in preleukemic precursor B-cells to provoke leukemia in predisposed mice.
Nat Commun
; 14(1): 5159, 2023 08 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37620322
10.
Adaptation, reliability and validity of health-related quality of life questionnaires: Disabkids chronic and specific diabetes disease in children and adolescents with diabetes mellitus type 1.
Endocrinol Diabetes Nutr (Engl Ed)
; 70 Suppl 3: 18-26, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37598007
11.
Transient Inhibition of the JAK/STAT Pathway Prevents B-ALL Development in Genetically Predisposed Mice.
Cancer Res
; 82(6): 1098-1109, 2022 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35131871
12.
The Second Oncogenic Hit Determines the Cell Fate of ETV6-RUNX1 Positive Leukemia.
Front Cell Dev Biol
; 9: 704591, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34336858
13.
Clinical response to growth hormone in children with intrauterine growth retardation without catch-up growth in Castilla y León (Spain). / Respuesta clínica al tratamiento con hormona de crecimiento en niños con retraso de crecimiento intrauterino sin recuperación posnatal de talla en Castilla y León.
Endocrinol Diabetes Nutr (Engl Ed)
; 65(10): 584-591, 2018 Dec.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-30143447
14.
Crisis neonatales y evolución a epilepsia en un hospital de tercer nivel / Neonatal seizures and progression to epilepsy in a tertiary hospital
Rev. neurol. (Ed. impr.)
; 77(10): 249-252, 16 - 30 de Noviembre 2023. tab, graf
Artigo
em Espanhol
| IBECS (Espanha) | ID: ibc-227595
15.
Rango normal de subunidad ácido-lábil (ALS) en niños españoles y su relación con la edad, el sexo, el estadio puberal y otros factores de crecimiento / Normal range for acid-labile subunit in paediatric patients in Spain and its association with age, sex, pubertal stage and other growth factors
An. pediatr. (2003. Ed. impr.)
; 98(5): 329-337, may. 2023. ilus, graf, tab
Artigo
em Espanhol
| IBECS (Espanha) | ID: ibc-220070
16.
Autosomal recessive hypercholesterolemia in Spain.
Atherosclerosis
; 269: 1-5, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29245109
17.
Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes.
J Am Coll Cardiol
; 71(3): 279-288, 2018 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29348020
18.
Inguinal-scrotal bladder hernia associated with pelvic kidney.
Arch Esp Urol
; 64(5): 479-80, 2011 Jun.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-21705823
19.
[Turner syndrome: Study of 42 cases]. / Síndrome de Turner: análisis de 42 casos.
Med Clin (Barc)
; 147(8): 348-351, 2016 Oct 21.
Artigo
em Espanhol
| MEDLINE | ID: mdl-27575526
20.
Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry.
J Clin Lipidol
; 10(4): 953-961, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27578128