Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant. [PDF]
Clin Case Rep, 2021 It is key to expand the differential diagnosis and consider possible genetic etiologies on a patient with congenital cataracts associated with clinical features, such as leukodystrophy or polyneuropathy. Abstract It is key to expand the differential diagnosis and consider possible genetic etiologies on a patient with congenital cataracts associated ...
Troncoso M +6 more
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So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity [PDF]
Italian Journal of Pediatrics, 2022 Background The Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency is the most common cause of genital ambiguity in persons with XX sexual chromosomes.
Reinaldo Luna de Omena Filho +9 more
doaj +2 more sources
The decline of patrilineal kin propinquity in the United States, 1790-1940 [PDF]
Demographic Research, 2020 Background: Historical change in the availability of kin beyond the household has long interested scholars, but there has been little comparable evidence on long-run change.
Matt A. Nelson
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Surnames and Y-chromosomal markers reveal low relationships in Southern Spain. [PDF]
PLoS ONE, 2015 A sample of 416 males from western and eastern Andalusia has been jointly analyzed for surnames and Y-chromosome haplogroups and haplotypes. The observed number of different surnames was 222 (353 when the second surname of the Spanish system of naming is
Rosario Calderón +3 more
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Regional surname affinity: A spatial network approach. [PDF]
Am J Phys Anthropol, 2019 Abstract Objective We investigate surname affinities among areas of modern‐day China, by constructing a spatial network, and making community detection. It reports a geographical genealogy of the Chinese population that is result of population origins, historical migrations, and societal evolutions. Materials and methods We acquire data from the census
Shi Y +5 more
europepmc +2 more sources
Footprints of middle ages kingdoms are still visible in the contemporary surname structure of Spain. [PDF]
PLoS ONE, 2015 To assess whether the present-day geographical variability of Spanish surnames mirrors historical phenomena occurred at the times of their introduction (13th-16th century), and to infer the possible effect of foreign immigration (about 11% of present-day)
Roberto Rodríguez-Díaz +2 more
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Twin Town in South Brazil: a Nazi's experiment or a genetic founder effect? [PDF]
PLoS ONE, 2011 Cândido Godói (CG) is a small municipality in South Brazil with approximately 6,000 inhabitants. It is known as the "Twins' Town" due to its high rate of twin births.
Alice Tagliani-Ribeiro +8 more
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Coefficients of Relationship by Isonymy Among Scottish Males With Multiple Primary Cancers
Disease Markers, 1994 Patients with heritable cancer syndromes often develop multiple primary cancers (mpc) affecting one or more organs or tissues. However, it is less clear whether the presence of mpc in a patient implies that genetic factors have an important role in aetiology.
Susan M. Holloway
exaly +2 more sources
Self-Similarity in Population Dynamics: Surname Distributions and Genealogical Trees
Entropy, 2015 The frequency distribution of surnames turns out to be a relevant issue not only in historical demography but also in population biology, and especially in genetics, since surnames tend to behave like neutral genes and propagate like Y chromosomes.
Paolo Rossi
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The Distribution of Surnames in Xiantao City through Isonymy [PDF]
Journal of Geodesy and Geoinformation ScienceThe population migration in Hubei Province was frequent in history, accompanied by the migration of surnames, so it is important to study their population surnames.
ZHANG Jingjing, ZHU Yan, XIAO Hong
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