Detalles de la búsqueda
1.
KCNJ3 is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia identified using whole genome sequencing.
Am J Med Genet B Neuropsychiatr Genet
; : e32984, 2024 Apr 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-38597354
2.
The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant.
Am J Med Genet A
; 182(11): 2788-2792, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32902151
3.
Intracranial Vessel Wall Magnetic Resonance Imaging of Middle Cerebral Artery Dissection in Neurofibromatosis Type 1.
Stroke
; 54(9): e419-e420, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37497673
4.
A 13-year-old boy with a 7q36.1q36.3 deletion with additional findings.
Am J Med Genet A
; 167A(1): 198-203, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25257745
5.
Partial trisomy of 11q23.3-q25 inherited from a maternal low-level mosaic unbalanced translocation.
Am J Med Genet A
; 167A(8): 1859-64, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25944464
6.
Novel In-Frame Deletion CNOT3 Variant in a Family With Intellectual Developmental Disorder With Speech Delay and Dysmorphic Facies.
Neurol Genet
; 10(1): e200116, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38179413
7.
Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.
J Hum Genet
; 58(2): 73-7, 2013 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-23190751
8.
Effects of once-weekly dulaglutide on juvenile type 2 diabetes mellitus and obesity in Korea: a pilot study.
Ann Pediatr Endocrinol Metab
; 28(4): 296-301, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-36758973
9.
Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome.
J Korean Med Sci
; 27(12): 1586-90, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23255863
10.
The role of ketogenic diet in the treatment of refractory status epilepticus.
Epilepsia
; 52(11): e181-4, 2011 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22003821
11.
PDE3A variant associated with hypertension and brachydactyly syndrome in a patient with ischemic stroke caused by spontaneous intracranial artery dissection: A review of the clinical and molecular genetic features.
Eur J Med Genet
; 63(4): 103781, 2020 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-31589936
12.
First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln).
Ann Pediatr Endocrinol Metab
; 24(4): 253-256, 2019 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-31905446
13.
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.
PLoS One
; 13(6): e0199321, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29924869
14.
A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.
Mol Med Rep
; 17(6): 7611-7617, 2018 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-29620237
15.
Coinheritance of Novel Mutations in SCN1A Causing GEFS+ and in KDM6A Causing Kabuki Syndrome in a Family.
Ann Clin Lab Sci
; 47(2): 229-235, 2017 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-28442529
16.
Correction: Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies.
PLoS One
; 12(3): e0173757, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28267770
17.
Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies.
PLoS One
; 12(1): e0169226, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28076398
18.
A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin-Siris Syndrome.
Ann Lab Med
; 41(3): 350-353, 2021 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33303725
19.
Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication.
Eur J Med Genet
; 59(4): 210-4, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26873618
20.
Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos.
Brain Dev
; 38(7): 669-73, 2016 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-26867509