Detalhe da pesquisa
1.
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.
J Med Genet
; 60(9): 866-873, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36977548
2.
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Int J Mol Sci
; 25(2)2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279250
3.
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Am J Hum Genet
; 106(4): 570-583, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197074
4.
TSEN54 Gene-Related Pontocerebellar-Hypoplasia and Role of Prenatal MR Imaging: Besides the Common Posterior Fossa Cystic Malformations.
Cerebellum
; 22(5): 1023-1025, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35962274
5.
Rock around DYRK1A: Ethnic diversity, clinical challenges.
Am J Med Genet A
; 191(5): 1459-1464, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36772973
6.
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.
Neurol Sci
; 44(9): 3037-3043, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37046037
7.
Fetal Hydrothorax Treated with Pleuro-Amniotic Shunting: Fetal and Maternal Complications and Long-Term Outcomes.
Fetal Diagn Ther
; 50(2): 115-120, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36709748
8.
Progressive Clinical and Neuroradiological Findings in a Child with BCL11B Missense Mutation: Expanding the Phenotypic Spectrum of Related Disorder.
Neuropediatrics
; 53(4): 283-286, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34844266
9.
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Int J Mol Sci
; 23(11)2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35682590
10.
Neonatal Diabetes in Patients Affected by Liang-Wang Syndrome Carrying KCNMA1 Variant p.(Gly375Arg) Suggest a Potential Role of Ca2+ and Voltage-Activated K+ Channel Activity in Human Insulin Secretion.
Curr Issues Mol Biol
; 43(2): 1036-1042, 2021 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34563042
11.
Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.
J Hum Genet
; 66(10): 1035-1037, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33785861
12.
Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.
Int J Mol Sci
; 20(5)2019 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30836598
13.
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
Int J Mol Sci
; 20(15)2019 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31344879
14.
Major Discordant Structural Anomalies in Monochorionic Twins: Spectrum and Outcomes.
Twin Res Hum Genet
; 21(6): 546-555, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30375322
15.
Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.
Am J Med Genet A
; 170A(5): 1352-7, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26864752
16.
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
Am J Med Genet A
; 170(11): 3004-3007, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27549011
17.
Familial Precocious Fetal Abnormal Cortical Sulcation.
Neuropediatrics
; 47(4): 253-8, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27177044
18.
Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia.
Prenat Diagn
; 34(10): 1015-7, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24839128
19.
Amnioreduction for Polyhydramnios in a Consecutive Series at a Single Center: Indications, Risks and Perinatal Outcomes.
Children (Basel)
; 11(4)2024 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38671719
20.
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
Mol Genet Genomic Med
; 12(1): e2316, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38041506