Detalhe da pesquisa
1.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 361-372, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051358
2.
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
Am J Hum Genet
; 107(3): 564-574, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32822602
3.
A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Am J Med Genet A
; 191(2): 490-497, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36513625
4.
Twenty-four-hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith-Magenis syndrome, a neurodevelopmental disorder.
Am J Med Genet A
; 179(2): 224-236, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30690916
5.
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
Hum Mutat
; 38(12): 1774-1785, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28940898
6.
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
Hum Genet
; 136(4): 409-420, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28213671
7.
Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.
Am J Med Genet A
; 170(9): 2383-8, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27311559
8.
Opposite effects on facial morphology due to gene dosage sensitivity.
Hum Genet
; 133(9): 1117-25, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24889830
9.
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
Mol Genet Metab
; 113(3): 161-70, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24863970
10.
Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2).
J Clin Rheumatol
; 20(5): 291-3, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25036569
11.
Analysis of the sensory profile in children with Smith-Magenis syndrome.
Phys Occup Ther Pediatr
; 32(1): 48-65, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21599572
12.
Variegation of autism related traits across seven neurogenetic disorders.
Transl Psychiatry
; 12(1): 149, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393403
13.
Phenotype and course of Hutchinson-Gilford progeria syndrome.
N Engl J Med
; 358(6): 592-604, 2008 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-18256394
14.
Autism spectrum features in Smith-Magenis syndrome.
Am J Med Genet C Semin Med Genet
; 154C(4): 456-62, 2010 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20981775
15.
Pharmacological treatment of disruptive behavior in Smith-Magenis syndrome.
Am J Med Genet C Semin Med Genet
; 154C(4): 463-8, 2010 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20981776
16.
Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.
Am J Pathol
; 174(2): 534-40, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19116367
17.
Diagnostic utility of daytime salivary melatonin levels in Smith-Magenis syndrome.
Am J Med Genet A
; 152A(1): 96-101, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20034098
18.
Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion.
Am J Med Genet A
; 149A(7): 1382-91, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19530184
19.
Sensory motor and functional skills of dizygotic twins: one with Smith-Magenis syndrome and a twin control.
Phys Occup Ther Pediatr
; 29(3): 239-57, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19842854
20.
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.
Genet Test
; 12(1): 67-73, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18373405