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Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
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In: Orphanet journal of rare diseases, vol 17, iss 1 (2022)
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The Genetics of Primary Ciliary Dyskinesia in Puerto Rico
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In: Diagnostics; Volume 12; Issue 5; Pages: 1127 (2022)
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Heritable changeability: Epimutation and the legacy of negative definition in epigenetic concepts
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In: ISSN: 0039-3681 ; Studies in History and Philosophy of Science Part A ; https://hal.archives-ouvertes.fr/hal-03464083 ; Studies in History and Philosophy of Science Part A, Elsevier, 2021, 86, pp.35 - 46. ⟨10.1016/j.shpsa.2020.12.006⟩ (2021)
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Geolinguistic variation of Hebridean Gaelic: the role of nominal morphology ...
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The strength of morphophonological schemas: Consonant mutations in Polish
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In: Glossa: a journal of general linguistics; Vol 6, No 1 (2021); 25 ; 2397-1835 (2021)
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Artificial Intelligence, Machine Learning and Deep Learning in Ion Channel Bioinformatics
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In: Membranes ; Volume 11 ; Issue 9 (2021)
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Contemporary ghosts, moult of the novel ; Fantasmas contemporáneos, muda de la novela ; Fantômes contemporains, mue du roman
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In: Scientific Journal on Cultural Hybridizations and Migrants’ Identities; Núm. 2: ; 81-102 ; Revista científica sobre hibridaciones culturales e identidades migrantes; Núm. 2: ; Revue scientifique sur les hybridations culturelles et les identités migrantes; Núm. 2: ; 2660-6259 (2021)
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Geolinguistic variation of Hebridean Gaelic: the role of nominal morphology
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Abstract:
This thesis investigates the geographical variation of inflectional markers used in noun phrases by speakers of Scottish Gaelic. I focus on the traditional vernacular and therefore the data represent the speech of older L1 speakers from one of the language’s heartlands: the Hebridean archipelago. I interviewed 41 speakers above the age of 50 from 18 locations on 10 islands and used dialectometric methods to analyse the data. This thesis contributes to Gaelic and linguistic research by providing: (1) an updated account of morphological and geographical variation in the traditional Gaelic vernacular; (2) further evaluation of quantitative analyses of morphology and macrolevel variation; (3) a theory of the hierarchy of inflectional markedness for Gaelic; and (4) a critical geolinguistic approach to the study of Gaelic and morphology applied to quantitative and qualitative data. The fieldwork component of this research consisted of a sociolinguistic interview, an elicitation task, and a questionnaire to collect contributors’ demographic background and linguistic attitudes. I interrogated the data with regression, cluster, and correlation analyses. The results from these analyses were visualized on maps. The results show that location is a powerful predictor of morphological variation. Locations, as a predictor, are explored through their demographic, topographic, and social context. Gaelic is a minority language under pressure from varieties of English and Scots, and therefore I also explore typological (e.g. contact-induced change) and sociolinguistic (e.g. hypercorrection) contact phenomena as explanations for morphological variation. This thesis presents evidence of considerable morphological variation within localized varieties of Gaelic. The results indicate that more northerly islands are generally more conservative in their treatment of nominal morphology, while more southerly islands are generally more innovative. These patterns correlate to some extent with the percentage of the local population that speak Gaelic, which suggests that conservative forms are supported in communities with greater densities of Gaelic speakers. Lewis is an exception in that it is the most northerly island, with some of the largest proportions of Gaelic speakers in the archipelago. Yet nominal morphology in Lewis cannot be classified as either ‘conservative’ or ‘innovative’. I argue that these patterns can be explained by segmental phonology, historical localisms, and typological phenomena (e.g. independent co-occurrence). Based on the findings from the statistical and critical analyses, I propose that: (1) typological and sociolinguistic phenomena (e.g. phonological variation and hypercorrection respectively) can account for variation; (2) variation can be explained by a hierarchy of markedness (in which more salient morphological markers are more prevalent); and (3) contact phenomena may be interacting with the hierarchy of markedness at both a linguistic and sociolinguistic level. The findings do not suggest morphosyntactic convergence from contact. Rather, much of the variation appears to be conditioned by the internal typological structures of Gaelic.
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Keyword:
consonant mutation; dialectology; dialectometry; geolinguistics; language contact; language variation; nominal morphology; Scottish Gaelic
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URL: https://hdl.handle.net/1842/38432
https://doi.org/10.7488/era/1696
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| 9 |
Category-specific effects in Welsh mutation
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In: Glossa: a journal of general linguistics; Vol 5, No 1 (2020); 1 ; 2397-1835 (2020)
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| 10 |
Phonological contrast and phonetic variation : the case of velars in Iwaidja
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| 11 |
The inconspicuous substratum : Indigenous Australian languages and the phonetics of stop contrasts in English on Croker Island
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| 12 |
Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family
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In: ISSN: 0301-4851 ; EISSN: 1573-4978 ; Molecular Biology Reports ; https://hal-riip.archives-ouvertes.fr/pasteur-03565723 ; Molecular Biology Reports, Springer Verlag, 2019, 46 (4), pp.4185 - 4193. ⟨10.1007/s11033-019-04869-6⟩ (2019)
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| 13 |
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.
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| 14 |
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
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In: American journal of human genetics, vol. 105, no. 5, pp. 907-920 (2019)
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| 15 |
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
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In: ISSN: 0340-6717 ; EISSN: 1432-1203 ; Human Genetics ; https://hal.archives-ouvertes.fr/hal-02349575 ; Human Genetics, Springer Verlag, 2018, 137 (2), pp.111--127. ⟨10.1007/s00439-017-1862-z⟩ (2018)
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The Historical Origin of Consonant Mutation in the Atlantic Languages
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In: Merrill, John Thomas Mayfield. (2018). The Historical Origin of Consonant Mutation in the Atlantic Languages. UC Berkeley: Linguistics. Retrieved from: http://www.escholarship.org/uc/item/1qn4m0bh (2018)
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| 17 |
PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer’s Disease
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In: International Journal of Molecular Sciences ; Volume 19 ; Issue 9 (2018)
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Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.
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In: Genetics in medicine, vol. 20, no. 7, pp. 778-784 (2018)
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