Detalhe da pesquisa
1.
PATZ1-Rearranged Tumors of the Central Nervous System: Characterization of a Pediatric Series of Seven Cases.
Mod Pathol;
37(2): 100387, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38007157
2.
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration.
J Med Genet;
59(3): 262-269, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33397746
3.
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
J Med Genet;
59(9): 878-887, 2022 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34656997
4.
Paediatric astroblastoma-like neuroepithelial tumour of the spinal cord with a MAMLD1-BEND2 rearrangement.
Neuropathol Appl Neurobiol;
48(5): e12814, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35301744
5.
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Clin Genet;
102(2): 98-109, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35616059
6.
8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision.
Am J Med Genet A;
188(3): 883-895, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34897976
7.
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.
Am J Med Genet A;
188(6): 1836-1847, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35238482
8.
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Am J Med Genet A;
188(4): 1149-1159, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34971082
9.
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.
Int J Mol Sci;
23(21)2022 Oct 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36361691
10.
Paediatric-type diffuse high-grade gliomas in the 5th CNS WHO Classification.
Pathologica;
114(6): 422-435, 2022 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36534421
11.
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.
Clin Genet;
99(6): 842-848, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33733458
12.
Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.
Am J Med Genet A;
185(1): 242-249, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33098373
13.
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Brain;
143(4): 1114-1126, 2020 04 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32293671
14.
A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.
Int J Mol Sci;
22(4)2021 Feb 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33672664
15.
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.
Int J Mol Sci;
22(2)2021 Jan 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33451138
16.
PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.
Am J Med Genet A;
182(12): 3014-3022, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32985083
17.
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
Am J Med Genet A;
182(5): 1073-1083, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32124548
18.
Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.
Am J Med Genet A;
182(6): 1342-1350, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32319738
19.
Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.
Ann Hum Genet;
83(2): 100-109, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30302754
20.
X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients.
Exp Dermatol;
28(10): 1156-1163, 2019 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29672931