Detalhe da pesquisa
1.
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Brain
; 147(5): 1822-1836, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38217872
2.
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Hum Mutat
; 41(12): 2179-2194, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131181
3.
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
Hum Mol Genet
; 24(20): 5845-54, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26220973
4.
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.
BMC Med Genet
; 16: 113, 2015 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26684006
5.
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.
Am J Med Genet A
; 167A(3): 657-63, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691420
6.
Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression.
Am J Med Genet A
; 161A(5): 1137-42, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23463539
7.
Clinical and Biochemical Characteristics of Untreated Adult Patients With Resistance to Thyroid Hormone Alpha.
J Endocr Soc
; 7(8): bvad089, 2023 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37469961
8.
A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy.
Am J Ophthalmol Case Rep
; 26: 101400, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35243150
9.
[Structural variation in the human genome contributes to variation of traits]. / Strukturell variasjon i genomet bidrar til variasjon i egenskaper.
Tidsskr Nor Laegeforen
; 128(17): 1951-5, 2008 Sep 11.
Artigo
em Norueguês
| MEDLINE | ID: mdl-18787571
10.
Human TGF-ß1 deficiency causes severe inflammatory bowel disease and encephalopathy.
Nat Genet
; 50(3): 344-348, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29483653
11.
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype.
Genes (Basel)
; 7(12)2016 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27916860
12.
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.
Neuromuscul Disord
; 26(9): 570-5, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27450922
13.
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.
Eur J Med Genet
; 59(6-7): 342-6, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27182039
14.
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.
Mol Cytogenet
; 8: 57, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26236398
15.
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1.
Clin Dysmorphol
; 29(2): 107-110, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31929336
16.
Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.
Eur J Med Genet
; 57(9): 513-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24911659
17.
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
Orphanet J Rare Dis
; 8: 3, 2013 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23294540
18.
A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features.
Eur J Med Genet
; 55(12): 695-9, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22986108
19.
shRNA expression constructs designed directly from siRNA oligonucleotide sequences.
Mol Biotechnol
; 45(2): 116-20, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20119685
20.
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.
Eur J Med Genet
; 53(4): 221-4, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20382277