Detalhe da pesquisa
1.
En masse organoid phenotyping informs metabolic-associated genetic susceptibility to NASH.
Cell
; 185(22): 4216-4232.e16, 2022 10 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36240780
2.
STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis.
J Allergy Clin Immunol
; 150(4): 931-946, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35469842
3.
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Am J Hum Genet
; 104(4): 758-766, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929739
4.
Clinical phenotype and musculoskeletal characteristics of patients with aggrecan deficiency.
Am J Med Genet A
; 188(4): 1193-1203, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35001504
5.
Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings.
J Clin Immunol
; 41(1): 136-146, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33090292
6.
Genetic causes of growth hormone insensitivity beyond GHR.
Rev Endocr Metab Disord
; 22(1): 43-58, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33029712
7.
Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein.
Clin Endocrinol (Oxf)
; 92(4): 331-337, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883394
8.
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
Am J Hum Genet
; 98(6): 1235-1242, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259054
9.
Signal Transducer and Activator of Transcription 5B Deficiency-associated Lung Disease.
Am J Respir Crit Care Med
; 205(10): 1245-1250, 2022 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35238729
10.
IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations.
Pediatr Endocrinol Rev
; 14(3): 289-297, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28508599
11.
In Vitro and in Vivo Characterization of MOD-4023, a Long-Acting Carboxy-Terminal Peptide (CTP)-Modified Human Growth Hormone.
Mol Pharm
; 13(2): 631-9, 2016 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26713839
12.
The E180splice mutation in the GHR gene causing Laron syndrome: witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?
Am J Med Genet A
; 164A(5): 1204-8, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664892
13.
Recombinant Human Insulin-Like Growth Factor-1 Treatment of Severe Growth Failure in Three Siblings with STAT5B Deficiency.
Horm Res Paediatr
; 97(2): 195-202, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586336
14.
Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.
JCI Insight
; 9(6)2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38516887
15.
Differentiating the roles of STAT5B and STAT5A in human CD4+ T cells.
Clin Immunol
; 148(2): 227-36, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23773921
16.
A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).
Clin Endocrinol (Oxf)
; 79(6): 838-44, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23488611
17.
Five-Year Therapy with Recombinant Human Insulin-Like Growth Factor-1 in a Patient with PAPP-A2 Deficiency.
Horm Res Paediatr
; 96(5): 449-457, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36646053
18.
A Novel, Heterozygous, de novo Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor causing a mild short stature.
Horm Res Paediatr
; 2023 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37725936
19.
Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant.
Mol Cell Endocrinol
; 559: 111799, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36265659
20.
Single cell transcriptomics identifies adipose tissue CD271+ progenitors for enhanced angiogenesis in limb ischemia.
bioRxiv
; 2023 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36865239