Detalhe da pesquisa
1.
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
Inglês
| MEDLINE | ID: mdl-35907405
2.
Genomic imprinting disorders: lessons on how genome, epigenome and environment interact.
Nat Rev Genet
; 20(4): 235-248, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30647469
3.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Brain
; 146(12): 4880-4890, 2023 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37769650
4.
Prenatal testing for Imprinting Disorders: A clinical perspective.
Prenat Diagn
; 43(8): 983-992, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37341686
5.
Prenatal testing for imprinting disorders: A laboratory perspective.
Prenat Diagn
; 43(8): 973-982, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37340544
6.
Childhood adversity and approach/avoidance-related behaviour in boys.
J Neural Transm (Vienna)
; 129(4): 421-429, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35275248
7.
Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting.
J Med Genet
; 58(3): 173-176, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32447323
8.
Molecular pathophysiology of human MICU1 deficiency.
Neuropathol Appl Neurobiol
; 47(6): 840-855, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-33428302
9.
Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study.
Br J Cancer
; 123(4): 619-623, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32451468
10.
Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5.
Clin Genet
; 98(4): 418-419, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-33294970
11.
Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.
Clin Genet
; 98(4): 408-412, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32720325
12.
upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts.
Clin Genet
; 97(6): 902-907, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32087029
13.
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
Inglês
| MEDLINE | ID: mdl-32857899
14.
Kagami-Ogata syndrome: an important differential diagnosis to Beckwith-Wiedemann syndrome.
J Clin Ultrasound
; 48(4): 240-243, 2020 May.
Artigo
Inglês
| MEDLINE | ID: mdl-31994200
15.
Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans.
Trends Genet
; 32(7): 444-455, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27235113
16.
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.
Am J Hum Genet
; 99(3): 555-566, 2016 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27569549
17.
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.
Genet Res (Camb)
; 101: e3, 2019 03 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30829192
18.
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype.
Am J Med Genet A
; 179(11): 2252-2256, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31373173
19.
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
Inglês
| MEDLINE | ID: mdl-30610903
20.
Recurrent small deletions in KCNQ1OT1: a challenge for pathogenicity prediction.
J Med Genet
; 60(2): 131-133, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35772846