Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: First report of a Mexican patient and genotype-phenotype correlation

2004 ◽  
Vol 129A (2) ◽  
pp. 190-192 ◽  
Author(s):  
Nelly Margarita Macías-Gómez ◽  
André Mégarbané ◽  
Evelia Leal-Ugarte ◽  
Lisa Ximena Rodríguez-Rojas ◽  
Patricio Barros-Núñez
Keyword(s):  
Type Ii ◽  
Phenotype Correlation ◽  
Diastrophic Dysplasia ◽  
First Report ◽  
Genotype Phenotype Correlation ◽  
Mexican Patient

scholarly journals The numerous denominations of the Brugada syndrome and proposal about how to put an end to an old controversy - a historical-critical perspective

2020 ◽  
Vol 30 (3) ◽  
pp. 480-491
Author(s):  
Joseane Elza Tonussi Mendes ◽  
Kjell Nikus ◽  
Raimundo Barbosa-Barros ◽  
Andrés Ricardo Pérez-Riera
Keyword(s):  
Brugada Syndrome ◽  
Critical Perspective ◽  
Phenotype Correlation ◽  
First Report ◽  
The Past ◽  
Genotype Phenotype Correlation ◽  
Independent Entity

Backgroung: The eponymous Brugada Syndrome (BrS) in honor of its discovery as an independent entity by the Spanish/ Catalan Brugada brothers, Pedro and Josep, has deserved numerous denominations derived mainly from the clinical genotype/phenotype correlation. The purpose of this manuscript is to present and analyze the nomenclatures that this intriguing and challenging syndrome has received over the past 28 years. We also compared the main features between cases from the first report of the Brugada brothers and an article by Martini et al. The nomenclatures used by these authors are closely linked to the BrS, but the cases (except one) presented in the article by Martini et al do not present the type 1 Brugada ECG pattern, which is mandatory for the diagnosis of BrS.

scholarly journals Association of Neuropeptide-Y (NPY) and Interleukin-1beta (IL1B), Genotype-Phenotype Correlation and Plasma Lipids with Type-II Diabetes

PLoS ONE ◽  
2016 ◽  
Vol 11 (10) ◽  
pp. e0164437 ◽  
Author(s):  
Roma Patel ◽  
Mitesh Dwivedi ◽  
Mohmmad Shoab Mansuri ◽  
Ansarullah ◽  
Naresh C. Laddha ◽  
...  
Keyword(s):  
Neuropeptide Y ◽  
Type Ii Diabetes ◽  
Plasma Lipids ◽  
Type Ii ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Interleukin 1Beta

Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation

2002 ◽  
Vol 110 (2) ◽  
pp. 131-135 ◽  
Author(s):  
Amos Etzioni ◽  
Laura Sturla ◽  
Anthony Antonellis ◽  
Eric D. Green ◽  
Ruth Gershoni-Baruch ◽  
...  
Keyword(s):  
Founder Effect ◽  
Leukocyte Adhesion ◽  
Type Ii ◽  
Leukocyte Adhesion Deficiency ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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