Detalhe da pesquisa
1.
Role of CAMK2D in neurodevelopment and associated conditions.
Am J Hum Genet
; 111(2): 364-382, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272033
2.
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Proc Natl Acad Sci U S A
; 120(22): e2211087120, 2023 05 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37216524
3.
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Am J Hum Genet
; 109(8): 1436-1457, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35907405
4.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Genet Med
; 26(2): 101013, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924258
5.
Combination of nivolumab with standard induction chemotherapy in children and adults with EBV-positive nasopharyngeal carcinoma : Protocol of a prospective multicenter phase 2 trial.
HNO
; 2024 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38214716
6.
Prenatal testing for Imprinting Disorders: A clinical perspective.
Prenat Diagn
; 43(8): 983-992, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37341686
7.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet Med
; 24(3): 681-693, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906499
8.
Molecular pathophysiology of human MICU1 deficiency.
Neuropathol Appl Neurobiol
; 47(6): 840-855, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33428302
9.
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
Brain
; 143(8): 2406-2420, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32779703
10.
Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.
Clin Genet
; 98(4): 408-412, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32720325
11.
Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndrome.
Am J Med Genet A
; 182(11): 2727-2730, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32857899
12.
Plasma-derived Factor X therapy for treatment of intracranial bleeding in a patient with Factor X deficiency: a case report.
Transfusion
; 59(7): 2228-2233, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30964547
13.
Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome.
Mol Cell Probes
; 44: 1-7, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30610903
14.
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
J Med Genet
; 55(7): 497-504, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29574422
15.
Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database.
Hum Mutat
; 39(3): 345-364, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29250858
16.
[Beckwith-Wiedemann Syndrome (BWS) Current Status of Diagnosis and Clinical Management: Summary of the First International Consensus Statement]. / Beckwith-Wiedemann-Syndrom (BWS): Aktueller Stand der Diagnostik und des klinischen Managements.
Klin Padiatr
; 230(3): 151-159, 2018 Apr.
Artigo
em Alemão
| MEDLINE | ID: mdl-29660755
17.
Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.
J Pediatr
; 187: 206-212.e1, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28529015
18.
Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.
Neuropediatrics
; 48(2): 111-114, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28024309
19.
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.
Genet Med
; 18(4): 309-15, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26248010
20.
A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype.
Am J Med Genet A
; 167A(5): 1121-4, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25820550