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List of works by Jorge Rocha

A model to infer the pathogenic significance of CDH1 germline missense variants

scientific article published on 16 August 2006

A note on erroneous ethnolinguistic affiliations in genetic studies of southern Africa

scientific article published on January 1, 2011

Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer

scientific article

Analysis of the allelic diversity of a (CA)n repeat polymorphism among alpha 1-antitrypsin gene products from northern Portugal

scientific article

Ancient substructure in early mtDNA lineages of southern Africa

scientific article (publication date: 7 February 2013)

Color and genomic ancestry in Brazilians

scientific article

Color and genomic ancestry in Brazilians: a study with forensic microsatellites

scientific article

Demonstration of serum albumin (ALB) polymorphism in wild rabbits, Oryctolagus cuniculus, by means of isoelectric focusing

scientific article published on 01 January 1992

Differing evolutionary histories of WFDC8 (short-term balancing) in Europeans and SPINT4 (incomplete selective sweep) in Africans

scientific article published on 2 May 2011

Distribution of the - 13910C>T polymorphism in the general population of Portugal and in subjects with gastrointestinal complaints associated with milk consumption.

scientific article published on 18 January 2013

Gene dosage evidence for the regional assignment of GPT (glutamate-pyruvate transaminase; E. C. 2.6.1.2) locus to 8q24.2→8qter

article

Genetic architecture of skin and eye color in an African-European admixed population

scientific article

Genetic homogeneity across Bantu-speaking groups from Mozambique and Angola challenges early split scenarios between East and West Bantu populations

scientific article

Heritabilities of somatotype components in a population from rural Mozambique

scientific article published on 01 November 2008

Human Microevolution and the Atlantic Slave Trade

Identification in Portugal and Brazil of a mtDNA lineage containing a 9-bp triplication of the intergenic COII/tRNALys region

scientific article published in January 1999

Infection-associated FUT2 (Fucosyltransferase 2) genetic variation and impact on functionality assessed by in vivo studies.

scientific article published on 16 September 2009

Influence of apolipoprotein e polymorphism on cardiovascular risk factors in obese children

scientific article published in January 2003

Interspecific X-chromosome and mitochondrial DNA introgression in the Iberian hare: selection or allele surfing? ⬇️

scientific article published on March 16, 2011

Iris texture traits show associations with iris color and genomic ancestry

scientific article published on 31 May 2011

Loss and gain of function in SERPINB11: an example of a gene under selection on standing variation, with implications for host-pathogen interactions

scientific article

Matriclans shape populations: Insights from the Angolan Namib Desert into the maternal genetic history of southern Africa

scientific article published on 3 January 2018

Microsatellite variation and evolution of human lactase persistence

scientific article

On the edge of Bantu expansions: mtDNA, Y chromosome and lactase persistence genetic variation in southwestern Angola

scientific article

Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the alpha1-antitrypsin polymorphism

scientific article published in January 2001

Patterns of nucleotide and haplotype diversity at ICAM-1 across global human populations with varying levels of malaria exposure ⬇️

scientific article published on April 23, 2013

Phylogeography of the human mitochondrial L1c haplogroup: Genetic signatures of the prehistory of Central Africa

article

Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2.

scientific article

Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and history

scientific article published on 25 April 2011

Signatures of the preagricultural peopling processes in sub-Saharan Africa as revealed by the phylogeography of early Y chromosome lineages

scientific article (publication date: September 2011)

The Amelogenin locus displays a high frequency of X homologue failures in São Tomé Island (West Africa)

The Evolutionary History of Human Skin Pigmentation

scientific article published on 30 July 2019

Tracing the origin of the most common thiopurine methyltransferase (TPMT) variants: preliminary data from the patterns of haplotypic association with two CA repeats.

scientific article

Tumor Necrosis Factor Alpha Extended Haplotypes and Risk of Gastric Carcinoma

scientific article published on 01 September 2008

Y Chromosome Diversity in Brazilians: Switching Perspectives from Slow to Fast Evolving Markers

article

alpha1-Antitrypsin null alleles: evidence for the recurrence of the L353fsX376 mutation and a novel G-->A transition in position +1 of intron IC affecting normal mRNA splicing

scientific article published on 01 August 2002

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