Detalhe da pesquisa
1.
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech.
Neuropediatrics
; 54(6): 407-411, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37549685
2.
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Hum Genet
; 140(4): 625-647, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33337535
3.
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Kidney Int
; 91(5): 1243-1255, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28233610
4.
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission.
J Med Genet
; 58(8): 543-546, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34135091
5.
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Hum Mutat
; 36(3): 357-68, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25545067
6.
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
em Inglês
| MEDLINE | ID: mdl-26297663
7.
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
em Inglês
| MEDLINE | ID: mdl-26481254
8.
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
em Inglês
| MEDLINE | ID: mdl-24479866
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
em Inglês
| MEDLINE | ID: mdl-24397778
10.
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication.
Am J Med Genet A
; 161A(6): 1459-64, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23633446
11.
Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay.
Minerva Pediatr
; 69(2): 162-164, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27215640
12.
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
em Inglês
| MEDLINE | ID: mdl-28936199
13.
Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis.
Am J Cancer Res
; 6(12): 2910-2918, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28042510
14.
A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: a long-term follow-up and literature review.
Hormones (Athens)
; 13(4): 552-60, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25402377
15.
Genome-wide copy number analysis in pediatric glioblastoma multiforme.
Am J Cancer Res
; 4(3): 293-303, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24959384