Misceo D - Search Results

1

Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome.

Misceo D, Strømme P, Bitarafan F, Chawla MS, Sheng Y, Bach de Courtade SM, Eide L, Frengen E. Misceo D, et al. Genes (Basel). 2024 Apr 17;15(4):500. doi: 10.3390/genes15040500. Genes (Basel). 2024. PMID: 38674434 Free PMC article.

2

Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.

Misceo D, Senaratne LDS, Mero IL, Sundaram AYM, Bjørnstad PM, Szczałuba K, Gasperowicz P, Kamien B, Nedregaard B, Holmgren A, Strømme P, Frengen E. Misceo D, et al. Genes (Basel). 2023 Oct 24;14(11):1985. doi: 10.3390/genes14111985. Genes (Basel). 2023. PMID: 38002928 Free PMC article.

3

A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.

Barøy T, Misceo D, Braaten O, Helle JR, Fannemel M, Strømme P, Frengen E. Barøy T, et al. Among authors: misceo d. Eur J Med Genet. 2010 Jul-Aug;53(4):221-4. doi: 10.1016/j.ejmg.2010.03.010. Epub 2010 Apr 9. Eur J Med Genet. 2010. PMID: 20382277

4

Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan.

Pedurupillay CR, Landsend EC, Vigeland MD, Ansar M, Frengen E, Misceo D, Strømme P. Pedurupillay CR, et al. Among authors: misceo d. Genes (Basel). 2016 Jul 27;7(8):41. doi: 10.3390/genes7080041. Genes (Basel). 2016. PMID: 27472364 Free PMC article.

5

Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype.

Skauli N, Wallace S, Chiang SC, Barøy T, Holmgren A, Stray-Pedersen A, Bryceson YT, Strømme P, Frengen E, Misceo D. Skauli N, et al. Among authors: misceo d. Genes (Basel). 2016 Nov 29;7(12):108. doi: 10.3390/genes7120108. Genes (Basel). 2016. PMID: 27916860 Free PMC article.

6

A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism.

Misceo D, Rødningen OK, Barøy T, Sorte H, Mellembakken JR, Strømme P, Fannemel M, Frengen E. Misceo D, et al. Am J Med Genet A. 2011 Feb;155A(2):403-8. doi: 10.1002/ajmg.a.33798. Epub 2011 Jan 14. Am J Med Genet A. 2011. PMID: 21271662

7

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.

Pedurupillay CR, Barøy T, Holmgren A, Blomhoff A, Vigeland MD, Sheng Y, Frengen E, Strømme P, Misceo D. Pedurupillay CR, et al. Among authors: misceo d. Am J Med Genet A. 2015 Mar;167A(3):657-63. doi: 10.1002/ajmg.a.36944. Am J Med Genet A. 2015. PMID: 25691420

8

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

Barøy T, Pedurupillay CR, Bliksrud YT, Rasmussen M, Holmgren A, Vigeland MD, Hughes T, Brink M, Rodenburg R, Nedregaard B, Strømme P, Frengen E, Misceo D. Barøy T, et al. Among authors: misceo d. Eur J Med Genet. 2016 Jun;59(6-7):342-6. doi: 10.1016/j.ejmg.2016.05.005. Epub 2016 May 13. Eur J Med Genet. 2016. PMID: 27182039

9

Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy.

Kotlarz D, Marquardt B, Barøy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Strømme P, Klein C. Kotlarz D, et al. Among authors: misceo d. Nat Genet. 2018 Mar;50(3):344-348. doi: 10.1038/s41588-018-0063-6. Epub 2018 Feb 26. Nat Genet. 2018. PMID: 29483653 Free PMC article.

10

TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery.

Sumathipala D, Strømme P, Gilissen C, Corominas J, Frengen E, Misceo D. Sumathipala D, et al. Among authors: misceo d. Pediatr Neurol. 2019 Jul;96:74-75. doi: 10.1016/j.pediatrneurol.2019.02.001. Epub 2019 Feb 13. Pediatr Neurol. 2019. PMID: 30898414 No abstract available.

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