Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

22 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: micule i. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium; Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics; Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA. Kaiser FJ, et al. Among authors: micule i. Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8. Hum Mol Genet. 2014. PMID: 24403048 Free PMC article.
The most common European HINT1 neuropathy variant phenotype and its case studies.
Rozevska M, Rots D, Gailite L, Linde R, Mironovs S, Timcenko M, Linovs V, Locmele D, Micule I, Lace B, Kenina V. Rozevska M, et al. Among authors: micule i. Front Neurol. 2023 Feb 17;14:1084335. doi: 10.3389/fneur.2023.1084335. eCollection 2023. Front Neurol. 2023. PMID: 36873433 Free PMC article.
Case Report: Two Families With HPDL Related Neurodegeneration.
Micule I, Lace B, Wright NT, Chrestian N, Strautmanis J, Diriks M, Stavusis J, Kidere D, Kleina E, Zdanovica A, Laflamme N, Rioux N, Setty ST, Pajusalu S, Droit A, Lek M, Rivest S, Inashkina I. Micule I, et al. Front Genet. 2022 Feb 9;13:780764. doi: 10.3389/fgene.2022.780764. eCollection 2022. Front Genet. 2022. PMID: 35222531 Free PMC article.
Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy.
Lace B, Inashkina I, Micule I, Vasiljeva I, Naudina MS, Strautmanis J, Stavusis J, Jankevics E. Lace B, et al. Among authors: micule i. Case Rep Neurol Med. 2013;2013:254950. doi: 10.1155/2013/254950. Epub 2013 Aug 19. Case Rep Neurol Med. 2013. PMID: 24024053 Free PMC article.
CAV3 gene sequence variations: National Genome Database and clinics.
Stavusis J, Inashkina I, Jankevics E, Radovica I, Micule I, Strautmanis J, Naudina MS, Utkus A, Burnyte B, Lace B. Stavusis J, et al. Among authors: micule i. Acta Neurol Scand. 2015 Sep;132(3):185-90. doi: 10.1111/ane.12369. Epub 2015 Jan 28. Acta Neurol Scand. 2015. PMID: 25630502
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Inashkina I, Jankevics E, Stavusis J, Vasiljeva I, Viksne K, Micule I, Strautmanis J, Naudina MS, Cimbalistiene L, Kucinskas V, Krumina A, Utkus A, Burnyte B, Matuleviciene A, Lace B. Inashkina I, et al. Among authors: micule i. BMC Musculoskelet Disord. 2016 May 4;17:200. doi: 10.1186/s12891-016-1058-z. BMC Musculoskelet Disord. 2016. PMID: 27142102 Free PMC article.
22 results