User contributions
From Iusmgenetics
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- 15:34, 18 October 2011 (hist) (diff) Molecular and Biochemical Genetics
- 14:36, 18 October 2011 (hist) (diff) Molecular and Biochemical Genetics
- 14:26, 18 October 2011 (hist) (diff) Homocysteinuria (top)
- 14:04, 18 October 2011 (hist) (diff) N Maple Syrup Urine Disease (Created page with '==Disease Name== ===General background information=== ===Mode of inheritance=== ===Single important gene=== ===Etiology=== ===Pathogenesis=== ===Phenotypic information=== …')
- 14:02, 18 October 2011 (hist) (diff) Molecular and Biochemical Genetics (→Recessive Diseases)
- 13:59, 18 October 2011 (hist) (diff) Cystic Fibrosis (→Not to be confused with)
- 13:59, 18 October 2011 (hist) (diff) Cystic Fibrosis (→CFTR and Intron 8 / Exon 9)
- 13:49, 18 October 2011 (hist) (diff) Main Page
- 03:02, 14 October 2011 (hist) (diff) Cystic Fibrosis
- 02:46, 14 October 2011 (hist) (diff) Homocysteinuria
- 02:41, 14 October 2011 (hist) (diff) Molecular and Biochemical Genetics
- 02:41, 14 October 2011 (hist) (diff) Familial Hypercholesterolemia (top)
- 02:32, 14 October 2011 (hist) (diff) Molecular and Biochemical Genetics
- 02:32, 14 October 2011 (hist) (diff) N Inherited Muscular Dystrophies (Created page with '==Inherited Muscular Dystrophies: Duchenne Muscular Dystrophy== ===General background information=== *Progressive muscle weakness *Characteristic muscle pathology *Pleomorphic: …')
- 02:04, 14 October 2011 (hist) (diff) N Lesch-Nyhan syndrome (Created page with '==Lesch-Nyhan syndrome== ===General background information=== *Disorder of purine metabolism *Deficiency of the activity of the enzyme hypoxanthine guanine phosphoribosyltransfe…')
- 01:23, 14 October 2011 (hist) (diff) N Rett Syndrome (Created page with '==Rett syndrome== ===General background information=== ===Mode of inheritance=== *'''X-linked dominant''' *A '''sex-dependent''' phenotype: affects mainly girls *Prevalence is …')
- 00:57, 14 October 2011 (hist) (diff) N Alpha-1-Anti-Trypsin deficiency (Created page with '==Alpha-1-Anti-Trypsin deficiency== ===General background information=== ===Mode of inheritance=== *Alpha-1-anti-trypsin deficiency is '''autosomal recessive''' *Incidence of "…')
- 00:49, 14 October 2011 (hist) (diff) Hemochromatosis
- 21:21, 13 October 2011 (hist) (diff) Molecular and Biochemical Genetics
- 21:21, 13 October 2011 (hist) (diff) N Hemochromatosis (Created page with '==Hemochromatosis== ===General background information=== ===Mode of inheritance=== ===Single important gene=== ===Etiology=== ===Pathogenesis=== ===Phenotypic information==…')
- 15:31, 13 October 2011 (hist) (diff) N Cystic Fibrosis (Created page with '==Cystic Fibrosis== ===General background information=== *1 / 2500 newborns (Caucasian) *Life expectancy of only 30 years ===Mode of inheritance=== *Autosomal recessive **Most …')
- 15:31, 13 October 2011 (hist) (diff) Molecular and Biochemical Genetics
- 14:17, 13 October 2011 (hist) (diff) Molecular and Biochemical Genetics
- 14:17, 13 October 2011 (hist) (diff) N Homocysteinuria (Created page with '==Homocysteinuria== ===General background information=== *This disease surrounds the biochemistry of converting methionine to homocystein to cystathionnine to cysteine. **Any de…')
- 13:51, 13 October 2011 (hist) (diff) Molecular and Biochemical Genetics
- 13:50, 13 October 2011 (hist) (diff) Achondroplasia (top)
- 13:50, 13 October 2011 (hist) (diff) Osteogenesis imperfecta
- 13:50, 13 October 2011 (hist) (diff) Ehlers Danlos Syndrome (top)
- 13:50, 13 October 2011 (hist) (diff) Marfan syndrome
- 17:20, 12 October 2011 (hist) (diff) Molecular and Biochemical Genetics
- 17:19, 12 October 2011 (hist) (diff) N Familial Hypercholesterolemia (Created page with '==Familial Hypercholesterolemia== ===General background information=== *1 / 500 *5% of MI pts younger than 60yo ===Mode of inheritance=== *Autosomal dominant (LDL receptor muta…')
- 16:48, 12 October 2011 (hist) (diff) Molecular and Biochemical Genetics
- 16:47, 12 October 2011 (hist) (diff) Marfan syndrome
- 16:36, 12 October 2011 (hist) (diff) N Marfan syndrome (Created page with '==Marfan syndrome== ===General background information=== *1 of 10k-20k *1 in 5,000 **10,000 live births *Flo Hyman **Died of aortic rupture in the middle of a volleyball match. …')
- 16:13, 12 October 2011 (hist) (diff) N Ehlers Danlos Syndrome (Created page with '==Ehlers Danlos Syndrome== ===General background information=== *Like Achondroplasia and Osteogenesis imperfecta, a disorder of collagen / connective tissue. *Like [[Ost…')
- 16:02, 12 October 2011 (hist) (diff) Molecular and Biochemical Genetics
- 16:02, 12 October 2011 (hist) (diff) N Osteogenesis imperfecta (Created page with '==Osteogenesis imperfecta== ===General background information=== *4 types: 1-4 **Type 1: most common, 1/15K **Type 2: most severe **Type 3: **Type 4: ===Mode of inheritance==…')
- 15:15, 12 October 2011 (hist) (diff) Molecular and Biochemical Genetics
- 15:14, 12 October 2011 (hist) (diff) N Achondroplasia (Created page with '==Achondroplasia== ===General background information=== *Disorder of bone growth and development *Achondroplasia literally means "without cartilage formation" *Most common type …')
- 15:00, 12 October 2011 (hist) (diff) Template for diseases
- 14:42, 12 October 2011 (hist) (diff) Template for diseases
- 14:32, 12 October 2011 (hist) (diff) Template for diseases
- 14:30, 12 October 2011 (hist) (diff) Template for diseases
- 14:28, 12 October 2011 (hist) (diff) N Molecular and Biochemical Genetics (Created page with '==Molecular and Biochemical Genetics== ===Objectives=== *Important terms: *Important concepts: *For individual diseases, know: clinical features, mode of inheritance, genes invo…')
- 14:20, 12 October 2011 (hist) (diff) Template for diseases
- 14:12, 12 October 2011 (hist) (diff) N Template for diseases (Created page with '===Disease Name=== *'''General background information:''' *'''Phenotyc information:''' *'''Diagnosis:''' *'''Treatment:''' *'''Etiology:''' *'''Pathogenesis:''' *'''Single …')
- 14:11, 12 October 2011 (hist) (diff) Main Page (→Miscellaneous)
- 14:11, 12 October 2011 (hist) (diff) Main Page
- 14:11, 12 October 2011 (hist) (diff) Main Page
- 14:10, 12 October 2011 (hist) (diff) Main Page
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