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1.
Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.
Am J Hum Genet
; 102(6): 1090-1103, 2018 06 07.
Article
in English
| MEDLINE | ID: mdl-29805044
2.
BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.
Int J Mol Sci
; 22(3)2021 Jan 29.
Article
in English
| MEDLINE | ID: mdl-33572860
3.
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.
Clin Genet
; 95(3): 403-408, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30417326
4.
A Register-Based Study of Diseases With an Autosomal Recessive Origin in Small Children in Denmark According to Maternal Country of Origin.
Paediatr Perinat Epidemiol
; 29(4): 351-9, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25970349
5.
Low bone turnover phenotype in Rett syndrome: results of biochemical bone marker analysis.
Pediatr Res
; 75(4): 551-8, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24375084
6.
Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.
Neurogenetics
; 14(3-4): 197-203, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-23989977
7.
Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family.
Am J Med Genet A
; 161A(9): 2358-62, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23894085
8.
Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities.
Am J Med Genet B Neuropsychiatr Genet
; 162B(8): 825-31, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-23894120
9.
Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.
BMC Med Genet
; 13: 65, 2012 Aug 02.
Article
in English
| MEDLINE | ID: mdl-22857269
10.
Partial duplication of 13q31.3-q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus.
Am J Med Genet A
; 158A(9): 2302-8, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22847911
11.
Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation.
J Med Genet
; 48(5): 308-11, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21278389
12.
The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice model.
PLoS One
; 17(1): e0261150, 2022.
Article
in English
| MEDLINE | ID: mdl-35015767
13.
Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy.
BMC Med Genet
; 12: 49, 2011 Apr 04.
Article
in English
| MEDLINE | ID: mdl-21457585
14.
Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.
Am J Med Genet A
; 155A(1): 203-6, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-21204233
15.
Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.
Am J Med Genet A
; 155A(12): 2964-9, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-22052739
16.
Patients with Rett syndrome sustain low-energy fractures.
Pediatr Res
; 69(4): 359-64, 2011 Apr.
Article
in English
| MEDLINE | ID: mdl-21178819
17.
Feasibility study on the use of methylation-specific MLPA for the 11p15 region on prenatal samples.
Prenat Diagn
; 36(1): 100-3, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26590364
18.
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
Hum Mutat
; 31(4): 429-36, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20120035
19.
Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation-dependent probe amplification.
Am J Med Genet B Neuropsychiatr Genet
; 153B(1): 280-5, 2010 Jan 05.
Article
in English
| MEDLINE | ID: mdl-19319887
20.
Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.
Genes (Basel)
; 11(12)2020 12 18.
Article
in English
| MEDLINE | ID: mdl-33353011