Detalhe da pesquisa
1.
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
J Med Genet
; 57(7): 466-474, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32277047
2.
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
PLoS Genet
; 13(3): e1006683, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28346496
3.
A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.
BMC Med Genet
; 16: 69, 2015 Aug 23.
Artigo
Inglês
| MEDLINE | ID: mdl-26297663
4.
Agenesis of internal carotid artery associated with isolated growth hormone deficiency: a case report and literature review.
BMC Endocr Disord
; 15: 58, 2015 Oct 19.
Artigo
Inglês
| MEDLINE | ID: mdl-26481254
5.
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Hum Mutat
; 35(7): 841-50, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24633898
6.
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.
Hum Mol Genet
; 21(1): 10-25, 2012 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-21920939
7.
Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype.
BMC Med Genet
; 15: 16, 2014 Jan 30.
Artigo
Inglês
| MEDLINE | ID: mdl-24479866
8.
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome.
BMC Med Genet
; 15: 61, 2014 May 23.
Artigo
Inglês
| MEDLINE | ID: mdl-24885139
9.
Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis.
BMC Endocr Disord
; 14: 3, 2014 Jan 08.
Artigo
Inglês
| MEDLINE | ID: mdl-24397778
10.
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
PLoS Genet
; 7(7): e1002173, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21779178
11.
Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome.
Genes (Basel)
; 12(4)2021 04 16.
Artigo
Inglês
| MEDLINE | ID: mdl-33923683
12.
Giant multiple bladder diverticula in Williams-Beuren syndrome.
Kidney Int
; 88(2): 416, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26230207
13.
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)).
Clin Endocrinol (Oxf)
; 72(6): 839-44, 2010 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19863572
14.
Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome.
Am J Med Genet A
; 146A(12): 1598-604, 2008 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18478599
15.
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.
J Med Genet
; 44(1): e60, 2007 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-17209130
16.
Precocious puberty in a girl with floating-harbor syndrome.
J Pediatr Endocrinol Metab
; 20(12): 1333-7, 2007 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-18341094
17.
Bone Status in a Patient with Insulin-Like Growth Factor-1 Receptor Deletion Syndrome: Bone Quality and Structure Evaluation Using Dual-Energy X-Ray Absorptiometry, Peripheral Quantitative Computed Tomography, and Quantitative Ultrasonography.
Front Endocrinol (Lausanne)
; 8: 227, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28936199
18.
Epigenetic control of the immune system: a lesson from Kabuki syndrome.
Immunol Res
; 64(2): 345-59, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26411453
19.
Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome.
Int J Endocrinol
; 2016: 3032759, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27413371
20.
Bone mineral status and metabolism in patients with Williams-Beuren syndrome.
Hormones (Athens)
; 15(3): 404-412, 2016 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-27394705