PubMed Articles

Using PubMed find the article citation and answer the following questions:

1. Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

J Med Genet. 2007 Jan;44(1):1-9. Epub 2006 Jul 6.

2. Association of genetic variants with the metabolic syndrome in 20,806 white women: The Women’s Health Genome Study

Am Heart J. 2009 Aug;158(2):257-262.e1.

3. Interleukin1beta genetic polymorphisms interact with polyunsaturated fatty acids to modulate risk of the metabolic syndrome

J Nutr. 2007 Aug;137(8):1846-51

4. Genetic polymorphisms in the thioredoxin 2 (TXN2) gene and risk for spina bifida.

Am J Med Genet A. 2009 Feb;149A(2):155-60N

5. An investigation of the C77G and C772T variations within the human protein tyrosine phosphatase receptor type C gene for association with multiple sclerosis in an Australian population

Brain Res. 2009 Feb 19;1255:148-52

6. Association studies of the IL-23R gene in autoimmune thyroid disease in the Japanese population.

Autoimmunity. 2009 Feb;42(2):126-30

7. Thyroglobulin polymorphisms in Tunisian patients with autoimmune thyroid diseases (AITD).

Immunobiology. 2008;213(7):577-83

8. Constitutional translocation t(4;22) (q12;q12.2) associated with neurofibromatosis type 2

Am J Med Genet. 1992 Sep 15;44(2):163-7

9. Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis.

Clin Chem. 2009 Jul;55(7):1372-9

10. A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.

Ann Hum Genet. 2008 May;72(Pt 3):305-9.

11. CNGA3 mutations in two United Arab Emirates families with achromatopsia

Mol Vis. 2008 Jul 10;14:1293-7

12. Spectrum of factor IX gene mutations causing haemophilia B from India

Blood Coagul Fibrinolysis. 2009 Jul;20(5):333-336

13. Polymorphisms in the promoter region of the dimethylarginine dimethylaminohydrolase 2 gene are associated with prevalence of hypertension.

Pharmacol Res. 2009 Aug 8.

14. A monomeric form of pyruvate kinase in human pyruvate kinase deficiency.

Proc Natl Acad Sci U S A. 1977 Feb;74(2):501-4.

15. An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant.

J Neurol. 2009 Apr;256(4):679-82.

16. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

J Med Genet. 2009 Jul;46(7):431-7.

17. A common human skin tumour is caused by activating mutations in beta-catenin.

Nat Genet. 1999 Apr;21(4):410-3.

18. Identification and localization of a neurally expressed member of the plakoglobin/armadillo multigene family

Differentiation. 1997 Aug;61(5):293-304.

19. Weight loss in Huntington disease increases with higher CAG repeat number.

Neurology. 2008 Nov 4;71(19):1506-13.

20. Enhanced expression of an exocrine pancreatic protein in Alzheimer’s disease and the developing human brain.

J Clin Invest. 1990 Sep;86(3):1004-13.

OMIM Exercise

1. Cystic Fibrosis Transmembrane Conductance Regulator
2. Quaking mouse
3. Elastin
4. Reelin
5. INTERLEUKIN 6; IL6
   
6. Tumor necrosis factor (tnf)
7. PROPHET OF PIT1
8. Retinitis Pigmentosa GTPase Regulator
9. Caytaxin
10. Ribonuclease L
11. Pancreasin
12. Insulin like Growth factor
13. Lipoprotein lipase
14. Thyroglobulin
15. BRCA1
16. Mucin1
    
17. Thyroid-stimulating hormone
18. Fat Mass- And Obesity-Associated Gene
19. Thyroid-stimulating hormone
20. Sonic hedgehog

Unknown Sequences