Detalhe da pesquisa
1.
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.
Am J Med Genet A
; 173(5): 1440-1443, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28323383
2.
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Am J Hum Genet
; 83(1): 106-11, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18565486
3.
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
Am J Hum Genet
; 82(2): 432-43, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18252223
4.
Weismann-Netter syndrome and mental retardation: a new patient and review of the literature.
Am J Med Genet A
; 149A(11): 2593-601, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19839038
5.
Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly.
Am J Med Genet A
; 146A(19): 2490-4, 2008 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18792983
6.
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.
J Med Genet
; 44(10): 629-36, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17601928
7.
Clinical and mutational spectrum of Mowat-Wilson syndrome.
Eur J Med Genet
; 48(2): 97-111, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16053902
8.
Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome.
Pediatr Neurol
; 30(1): 67-70, 2004 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-14738956
9.
Dysmorphic facial features in aspartylglucosaminuria patients and carriers.
Clin Dysmorphol
; 13(1): 11-5, 2004 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15127757
10.
Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females.
Clin Dysmorphol
; 13(2): 85-90, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15057123
11.
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
Orphanet J Rare Dis
; 9: 49, 2014 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-24721225
12.
Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example.
Genet Test Mol Biomarkers
; 16(10): 1188-94, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22924495
13.
9q22 Deletion--first familial case.
Orphanet J Rare Dis
; 6: 45, 2011 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-21693067
14.
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
Nat Genet
; 43(8): 729-31, 2011 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-21706002
15.
PAK3 related mental disability: further characterization of the phenotype.
Am J Med Genet A
; 143A(20): 2406-16, 2007 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17853471
16.
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
Am J Hum Genet
; 80(5): 994-1001, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17436255
17.
Pitt-Hopkins syndrome in two patients and further definition of the phenotype.
Clin Dysmorphol
; 15(2): 47-54, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16531728
18.
The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years.
Am J Med Genet A
; 130A(3): 317-9, 2004 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15378536