Detalhe da pesquisa
1.
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
Epilepsia
; 60(1): 155-164, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30525188
2.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
J Med Genet
; 55(2): 104-113, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29097605
3.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Am J Hum Genet
; 97(2): 343-52, 2015 Aug 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26235985
4.
Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.
Am J Med Genet A
; 170(9): 2301-9, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27354166
5.
New insights in Rett syndrome using pathway analysis for transcriptomics data.
Wien Med Wochenschr
; 166(11-12): 346-52, 2016 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-27517371
6.
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Hum Genet
; 134(1): 97-109, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25326669
7.
Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice.
Am J Med Genet A
; 158A(2): 340-50, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22190343
8.
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Hum Mutat
; 32(2): E2018-25, 2011 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-21280141
9.
Rett syndrome: a study of the face.
Am J Med Genet A
; 155A(7): 1563-7, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21626673
10.
MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions.
Am J Med Genet A
; 155A(11): 2739-45, 2011 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-21990140
11.
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
Genes Chromosomes Cancer
; 49(3): 242-52, 2010 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-19953625
12.
Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes.
World J Biol Psychiatry
; 21(10): 712-725, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30907210
13.
Rett syndrome and long-term disorder profile.
Am J Med Genet A
; 149A(2): 199-205, 2009 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-19133691
14.
Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: detection by MLPA and breakpoint mapping by SNP array analysis.
Am J Med Genet A
; 149A(10): 2226-30, 2009 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-19725130
15.
Challenges in evaluating the oculomotor function in individuals with Rett syndrome using electronystagmography.
Eur J Paediatr Neurol
; 23(2): 262-269, 2019 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-30635145
16.
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
Eur J Hum Genet
; 27(5): 738-746, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30679813
17.
Aging in people with specific genetic syndromes: Rett syndrome.
Am J Med Genet A
; 146A(15): 1925-32, 2008 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-18627042
18.
Abnormal Foot Position and Standing and Walking Ability in Rett Syndrome: an Exploratory Study.
J Dev Phys Disabil
; 30(2): 281-295, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29563764
19.
Oculomotor Function in Individuals With Rett Syndrome.
Pediatr Neurol
; 88: 48-58, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30340908
20.
The development of visual- and auditory processing in Rett syndrome: an ERP study.
Brain Dev
; 28(8): 487-94, 2006 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-16647236