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From Iusmgenetics
(Latest | Earliest) View (newer 50) (older 50) (20 | 50 | 100 | 250 | 500)- 18:56, 13 December 2011 Review Lecture (hist) [1,966 bytes] 149.166.105.93 (Talk) (Created page with '*Look over the course objectives **4) 4.5 lectures on this objective **5) mapping lectures **6) dr. quaid's lectures **7) and 8) not many lecutres / material on this (clinical co…')
- 12:55, 13 December 2011 Final Review Sheet (hist) [84,269 bytes] 134.68.138.157 (Talk) (Created page with '==Molecular and Biochemical Genetics== ===Objectives=== *Important terms: **'''"Incomplete" dominance or "semi-dominant": homozygous individuals have a worse manifestation than …')
- 22:09, 4 December 2011 Personalized Medicine (hist) [20,757 bytes] 134.68.138.157 (Talk) (Created page with '=Personalized Medicine= ==Lecture Objectives== *Define/describe personalized medicine and how it could be and is used, including **Direct to Consumer (DTC) testing *Describe fa…')
- 17:47, 2 December 2011 Stem Cells (hist) [2,758 bytes] 134.68.138.157 (Talk) (Created page with '=Stem Cells= *Stem cells have two features: self renewal and differentiation. *Early experiments in which we though HSCs could dediff into other tissue types were actually misi…')
- 16:15, 2 December 2011 Complex Diseases (hist) [11,649 bytes] 134.68.138.157 (Talk) (Created page with '=Genetic Mapping of Complex Disease= ==Complex Disease== *Both genes and environmental factors contribute to disease risk *Genetic diseases seen most often in clinical practice …')
- 15:56, 2 December 2011 Mapping of Mendelian Disorders (hist) [20 bytes] 134.68.138.157 (Talk) (Created page with '*See PDF annotations')
- 15:16, 30 November 2011 Cancer Genetics (hist) [20,582 bytes] 134.68.138.157 (Talk) (Created page with '=Cancer Genetics= ==Objectives== *Understand that cancer is a genetic disease and a multistep process. *Know the types of genes associated with cancer. *Know fundamentals about …')
- 01:37, 30 November 2011 Gene Therapy (hist) [20,051 bytes] 50.129.2.75 (Talk) (Created page with '=Gene Therapy= Page: 4 Number: 1 Author: Peter Subject: Sticky Note Date: 11/29/2011 6:48:32 PM First we realized that bacteria took up plasmids and thats how they became re…')
- 22:16, 18 October 2011 Charcot-Marie-Tooth Disease (hist) [1,204 bytes] 134.68.138.157 (Talk) (Created page with '==Charcot-Marie-Tooth Disease== ===General background information=== *Charcot-Marie-Tooth disease is also known as '''"Hereditary motor and sensory neuropathy"''' (HMSN) ===Mod…')
- 22:05, 18 October 2011 Hemophilia A (hist) [2,473 bytes] 134.68.138.157 (Talk) (Created page with '==Hemophilia A== ===General background information=== ===Mode of inheritance=== *'''X-linked recessive''' ===Single important gene=== *The FVIII gene makes the clotting cascad…')
- 21:49, 18 October 2011 Neurofibromatosis (hist) [1,558 bytes] 134.68.138.157 (Talk) (Created page with '==Neurofibromatosis== ===General background information=== *There are two types (I and II) **'''type I is the most common''' so that's what we'll describe here **Type I = von Re…')
- 21:40, 18 October 2011 Polycystic Kidney Disease (hist) [1,249 bytes] 134.68.138.157 (Talk) (Created page with '==Disease Name== ===General background information=== ===Mode of inheritance=== *Autosomal dominant **One of the most common dominant diseases in humans. *1/300 - 1/1000 births…')
- 21:34, 18 October 2011 Huntington Disease (hist) [2,994 bytes] 134.68.138.157 (Talk) (Created page with '==Huntington Disease== ===General background information=== ===Mode of inheritance=== *'''Autosomal dominant''' *97% of cases are inherited *Because of anticipation, there are …')
- 21:15, 18 October 2011 Fragile-X Syndrome (hist) [4,836 bytes] 134.68.138.157 (Talk) (Created page with '==Fragile X Syndrome== ===General background information=== *Called "Fragile X" because in a certain subset the conditions are right for an end of the X chromosome to fall off. …')
- 20:25, 18 October 2011 Myotonic Dystrophy (hist) [3,620 bytes] 134.68.138.157 (Talk) (Created page with '==Myotonic Dystrophy== ===General background information=== *'''Most common inherited neuromuscular disorder of adult life''' ===Mode of inheritance=== *'''Autosomal dominant''…')
- 19:53, 18 October 2011 Unusual Molecular Pathogenesis (hist) [2,928 bytes] 134.68.138.157 (Talk) (Created page with '==Unusual Molecular Pathogenesis== ===Objectives=== *Know the concepts: **Unstable repeat expansions **Two hit phenomenon **Alterened gene structure / dose from unusual crossove…')
- 19:11, 18 October 2011 Biotinidase Deficiency (hist) [1,505 bytes] 134.68.138.157 (Talk) (Created page with '==Biotinidase Deficiency== ===General background information=== *1 / 61K *Most common in French Canadians *'''An inability to release biotin form proteins and recycle it or a pr…')
- 16:53, 18 October 2011 Galactosemia (hist) [3,279 bytes] 134.68.138.157 (Talk) (Created page with '==Galactosemia== ===General background information=== *Galactosemia encompasses '''3 autosomal recessive disorders''': galactose 1-p uridyltransferase (GALT), galactokinase, epi…')
- 16:25, 18 October 2011 Tay-Sachs Disease (hist) [9,361 bytes] 134.68.138.157 (Talk) (Created page with '==Tay-Sachs Disease== ===General background information=== *Tay-Sachs disease is a lysosomal storage disease secondary to HexA deficiency and GM2 accumulation. *Tay-Sachs primar…')
- 15:34, 18 October 2011 Phenylketonuria (hist) [5,814 bytes] 134.68.138.157 (Talk) (Created page with '==Phenylketonuria (PKU)== ===General background information=== ===Mode of inheritance=== *Autosomal recessive *Demonstrates allelic heterogeneity **>400 known disease causing m…')
- 14:04, 18 October 2011 Maple Syrup Urine Disease (hist) [2,088 bytes] 134.68.138.157 (Talk) (Created page with '==Disease Name== ===General background information=== ===Mode of inheritance=== ===Single important gene=== ===Etiology=== ===Pathogenesis=== ===Phenotypic information=== …')
- 02:32, 14 October 2011 Inherited Muscular Dystrophies (hist) [3,711 bytes] 134.68.138.157 (Talk) (Created page with '==Inherited Muscular Dystrophies: Duchenne Muscular Dystrophy== ===General background information=== *Progressive muscle weakness *Characteristic muscle pathology *Pleomorphic: …')
- 02:04, 14 October 2011 Lesch-Nyhan syndrome (hist) [6,349 bytes] 134.68.138.157 (Talk) (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 Rett Syndrome (hist) [7,525 bytes] 134.68.138.157 (Talk) (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 Alpha-1-Anti-Trypsin deficiency (hist) [1,671 bytes] 134.68.138.157 (Talk) (Created page with '==Alpha-1-Anti-Trypsin deficiency== ===General background information=== ===Mode of inheritance=== *Alpha-1-anti-trypsin deficiency is '''autosomal recessive''' *Incidence of "…')
- 21:21, 13 October 2011 Hemochromatosis (hist) [4,444 bytes] 134.68.138.157 (Talk) (Created page with '==Hemochromatosis== ===General background information=== ===Mode of inheritance=== ===Single important gene=== ===Etiology=== ===Pathogenesis=== ===Phenotypic information==…')
- 15:31, 13 October 2011 Cystic Fibrosis (hist) [12,793 bytes] 134.68.138.157 (Talk) (Created page with '==Cystic Fibrosis== ===General background information=== *1 / 2500 newborns (Caucasian) *Life expectancy of only 30 years ===Mode of inheritance=== *Autosomal recessive **Most …')
- 14:17, 13 October 2011 Homocysteinuria (hist) [3,368 bytes] 134.68.138.157 (Talk) (Created page with '==Homocysteinuria== ===General background information=== *This disease surrounds the biochemistry of converting methionine to homocystein to cystathionnine to cysteine. **Any de…')
- 17:19, 12 October 2011 Familial Hypercholesterolemia (hist) [3,062 bytes] 134.68.138.157 (Talk) (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…')
- 16:36, 12 October 2011 Marfan syndrome (hist) [6,337 bytes] 134.68.138.157 (Talk) (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 Ehlers Danlos Syndrome (hist) [1,793 bytes] 134.68.138.157 (Talk) (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 Osteogenesis imperfecta (hist) [91 bytes] 134.68.138.157 (Talk) (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==…')
- 15:14, 12 October 2011 Achondroplasia (hist) [9,738 bytes] 134.68.138.157 (Talk) (Created page with '==Achondroplasia== ===General background information=== *Disorder of bone growth and development *Achondroplasia literally means "without cartilage formation" *Most common type …')
- 14:28, 12 October 2011 Molecular and Biochemical Genetics (hist) [73 bytes] 134.68.138.157 (Talk) (Created page with '==Molecular and Biochemical Genetics== ===Objectives=== *Important terms: *Important concepts: *For individual diseases, know: clinical features, mode of inheritance, genes invo…')
- 14:12, 12 October 2011 Template for diseases (hist) [318 bytes] 134.68.138.157 (Talk) (Created page with '===Disease Name=== *'''General background information:''' *'''Phenotyc information:''' *'''Diagnosis:''' *'''Treatment:''' *'''Etiology:''' *'''Pathogenesis:''' *'''Single …')
- 16:07, 14 December 2009 Main Page (hist) [790 bytes] Admin (Talk | contribs) (Created page with '==Welcome to Your New Wiki== A wiki is a powerful tool that allows multiple users to collaborate and share content rapidly. The best example of this is Wikipedia, which is powere…')