scholarly journals Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

2000 ◽  
Vol 37 (4) ◽  
pp. 263-271 ◽  
Author(s):  
G. R Mortier
Keyword(s):  
Type Ii Collagen ◽  
Type Ii ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

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 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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