Asbjorn Holmgren
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Explore the profile of Asbjorn Holmgren including associated specialties, affiliations and a list of published articles.
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21
Citations
447
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Recent Articles
11.
Ansar M, Riazuddin S, Sarwar M, Makrythanasis P, Paracha S, Iqbal Z, et al.
Genet Med
. 2017 Aug;
20(7):778-784.
PMID: 28837161
Purpose: To elucidate the novel molecular cause in two unrelated consanguineous families with autosomal recessive intellectual disability. Methods: A combination of homozygosity mapping and exome sequencing was used to locate...
12.
Skauli N, Wallace S, Chiang S, Baroy T, Holmgren A, Stray-Pedersen A, et al.
Genes (Basel)
. 2016 Dec;
7(12).
PMID: 27916860
Biallelic variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and...
13.
Pedurupillay C, Amundsen S, Baroy T, Rasmussen M, Blomhoff A, Stadheim B, et al.
Neuromuscul Disord
. 2016 Jul;
26(9):570-5.
PMID: 27450922
Biallelic mutations in IGHMBP2 cause spinal muscular atrophy with respiratory distress type 1 (SMARD1) or Charcot-Marie-Tooth type 2S (CMT2S). We report three families variably affected by IGHMBP2 mutations. Patient 1,...
14.
Baroy T, Pedurupillay C, Bliksrud Y, Rasmussen M, Holmgren A, Vigeland M, et al.
Eur J Med Genet
. 2016 May;
59(6-7):342-6.
PMID: 27182039
Mitochondrial DNA depletion syndromes (MTDPS) represent a clinically and genetically heterogeneous group of autosomal recessive disorders, caused by mutations in genes involved in maintenance of mitochondrial DNA (mtDNA). Biallelic mutations...
15.
Baroy T, Koster J, Stromme P, Ebberink M, Misceo D, Ferdinandusse S, et al.
Hum Mol Genet
. 2015 Jul;
24(20):5845-54.
PMID: 26220973
Import of peroxisomal matrix proteins, crucial for peroxisome biogenesis, is mediated by the cytosolic receptors PEX5 and PEX7 that recognize proteins carrying peroxisomal targeting signals 1 or 2 (PTS1 or...
16.
Pedurupillay C, Baroy T, Holmgren A, Blomhoff A, Vigeland M, Sheng Y, et al.
Am J Med Genet A
. 2015 Feb;
167A(3):657-63.
PMID: 25691420
A pair of sisters was ascertained for multiple congenital defects, including marked craniofacial dysmorphisms with blepharophimosis, and severe psychomotor delay. Two novel compound heterozygous mutations in UBE3B were identified in...
17.
Fannemel M, Baroy T, Holmgren A, Rodningen O, Haugsand T, Hansen B, et al.
Eur J Med Genet
. 2014 Jun;
57(9):513-9.
PMID: 24911659
2p15p16.1-deletion syndrome was first described in 2007 based on the clinical presentation of two patients. The syndrome is characterized by intellectual disability, autism spectrum disorders, microcephaly, dysmorphic facial features and...
18.
Misceo D, Holmgren A, Louch W, Holme P, Mizobuchi M, Morales R, et al.
Hum Mutat
. 2014 Mar;
35(5):556-64.
PMID: 24619930
Stormorken syndrome is a rare autosomal-dominant disease with mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. A heterozygous missense mutation in STIM1 exon...
19.
Wedding I, Koht J, Tran G, Misceo D, Selmer K, Holmgren A, et al.
PLoS One
. 2014 Jan;
9(1):e86340.
PMID: 24466038
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding paraplegin, a protein located at the inner mitochondrial membrane and involved in the processing of...
20.
Baroy T, Misceo D, Stromme P, Stray-Pedersen A, Holmgren A, Rodningen O, et al.
Orphanet J Rare Dis
. 2013 Jan;
8:3.
PMID: 23294540
Background: Nineteen patients with deletions in chromosome 6p22-p24 have been published so far. The syndromic phenotype is varied, and includes intellectual disability, behavioural abnormalities, dysmorphic features and structural organ defects....