Table 7.
The Dominican Republic in the genetics literature (Cai et al. 1996; Castilla and Orioli 2004; Della‐Morte et al. 2010, 2011; Garcia‐Godoy 1980; Garone et al. 2011; Goicochea de Jorge et al. 2002; Hamaguchi et al. 2004; Hickey et al. 2014; Imperato‐McGinley et al. 1974; Iyer et al. 2014; Jimenez 1978; Lee et al. 2014; Mendoza 1997; Ministry of Health 2014; Romas et al. 2002; Rosenberg et al. 1978; Rosenthal et al. 2014; Schiessl‐Weyer et al. 2015; Thigpen et al. 1992; Vardarajan et al. 2015; Wang et al. 2012; Zatkova 2011)
| Author | Title | Year |
|---|---|---|
| Imperato‐McGinley J | Steroid 5alpha‐reductase deficiency in man: an inherited form of male pseudohermaphroditism | 1974 |
| Henrietta Kotlus Rosenberg | The Dominican Republic Conjoined Twins: Ischiopagus, Tetrapus, Omphalopagus | 1978 |
| Fidelio A. Jimenez | The First Autopsy in the New World | 1978 |
| Franklin Garcia‐Godoy | Cleft lip and palate in Santo Domingo | 1980 |
| Imperato‐McGinley J | The prevalence of 5 alpha‐reductase deficiency in children with ambiguous genitalia in the Dominican Republic | 1986 |
| Anice E. Thigpen | Brief Report: The molecular basis of steroid 5 alpha‐reductase deficiency in a large Dominican kindred | 1992 |
| Li‐Qun Cai | 5 Alpha‐Reductase‐2 gene mutations in the Dominican Republic | 1996 |
| Hugo R. Mendoza | A newly recognized autosomal dominant ectodermal dysplasia syndrome: the odonto‐tricho‐ungual‐digital‐palmar syndrome | 1997 |
| E Goicoechea de Jorge | Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene | 2002 |
| Stavra N. Romas | Familial Alzheimer disease among Caribbean Hispanics: a reexamination of its association with APOE | 2002 |
| Eduardo Castilla | ECLAMC: The Latin‐American collaborative study of congenital malformations | 2004 |
| Kazuyuki Hamaguchi | The PC‐1 Q121 Allele Is Exceptionally Prevalent in the Dominican Republic and Is Associated with Type 2 Diabetes | 2004 |
| David Della‐Morte | Genetic linkage of serum homocysteine in Dominican families: the family study of stroke risk and carotid atherosclerosis | 2010 |
| David Della‐Morte | A follow‐up study for left ventricular mass on chromosome 12p11 identifies potential candidate genes | 2011 |
| Caterina Garone | Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy | 2011 |
| Andrea Zatkova | An update on molecular genetics of Alkaptonuria (AKU) | 2011 |
| Liyong Wang | Fine Mapping Study Reveals Novel Candidate Genes for Carotid Intima‐Media Thickness in Dominican Republican Families | 2012 |
| Shoba Iyer | Significant interactions between maternal PAH exposure and haplotypes in candidate genes on B[a]P‐DNA adducts in a NYC cohort of non‐smoking African‐American and Dominican mothers and newborns | 2013 |
| Jorge Rosenthal | Neural tube defects in Latin America and the impact of fortification: a literature review | 2014 |
| Kathleen T. Hickey | Cardiac genetic testing: a single‐center pilot study of a Dominican population | 2014 |
| Joseph H. Lee | Disease‐related mutations among Caribbean Hispanics with familial dementia | 2014 |
| Marcia Cruz Correa | Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome | 2015 |
| Jasmin Schiessl‐Weyer | Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study enrolling a cohort of PKAN Patients from the Dominican Republic | 2015 |
| Badri N. Vardarajan | Coding Mutations in SORL1 and Alzheimer disease | 2015 |