Detalhe da pesquisa
1.
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Am J Hum Genet
; 109(5): 909-927, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35390279
2.
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.
J Med Genet
; 61(3): 244-249, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37857482
3.
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
J Med Genet
; 61(2): 103-108, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37879892
4.
Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up.
Prenat Diagn
; 44(1): 35-48, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38165124
5.
New insights into CC2D2A-related Joubert syndrome.
J Med Genet
; 60(6): 578-586, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36319078
6.
Reversed cortico-medullary differentiation in the fetal and neonatal kidneys: an indicator of poor prognosis?
Pediatr Radiol
; 54(2): 285-292, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38150104
7.
Prenatal imaging of the normal and abnormal spinal cord: recommendations from the Fetal Task Force of the European Society of Paediatric Radiology (ESPR) and the European Society of Neuroradiology (ESNR) Pediatric Neuroradiology Committee.
Pediatr Radiol
; 54(4): 548-561, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37803194
8.
Predictive factors for survival in patients with oligohydramnios secondary to antenatal kidney disease.
Pediatr Nephrol
; 38(6): 1783-1792, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36409365
9.
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Prenat Diagn
; 43(6): 746-755, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37173814
10.
The fetal brain: migration and gyration anomalies - pre- and postnatal correlations.
Pediatr Radiol
; 53(4): 589-601, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35913508
11.
Anomalies of the fetal gallbladder: pre-and postnatal correlations.
Pediatr Radiol
; 53(4): 602-609, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35913509
12.
Exploration of the fetal skeleton by ultra-low-dose computed tomography: guidelines from the Fetal Imaging Task Force of the European Society of Paediatric Radiology.
Pediatr Radiol
; 53(4): 621-631, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36028720
13.
Indications for magnetic resonance imaging of the fetal body (extra-central nervous system): recommendations from the European Society of Paediatric Radiology Fetal Task Force.
Pediatr Radiol
; 53(2): 297-312, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36161506
14.
Prenatal diagnosis of vermian cyst: a new type of posterior fossa cyst.
Pediatr Radiol
; 53(3): 461-469, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36274068
15.
Imaging Factors Affecting Prenatal Counseling in Orofacial Clefts.
Fetal Diagn Ther
; 50(2): 70-83, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36854283
16.
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Clin Genet
; 101(3): 307-316, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34866188
17.
Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia.
Prenat Diagn
; 42(5): 583-588, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35301736
18.
Fetal magnetic resonance imaging at 3 Tesla - the European experience.
Pediatr Radiol
; 52(5): 959-970, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35147713
19.
Prenatal Assessment of Atypical Adrenal Glands: A Systematic Approach for Diagnosis.
J Ultrasound Med
; 40(8): 1719-1728, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33058228
20.
Indications for magnetic resonance imaging of the fetal central nervous system: recommendations from the European Society of Paediatric Radiology Fetal Task Force.
Pediatr Radiol
; 51(11): 2105-2114, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34137935