Autosomal Recessive Inheritance
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Inheritance and Genetics of Autosomal dominant polycystic kidney disease - WrongDiagnosis.com
wrongdiagnosis.com — “Inheritance and Genetics of Autosomal dominant polycystic kidney disease including heritability, family history, and inheritance patterns.” View full resource at wrongdiagnosis.com
Most Recently Shared on September 14, 2010 at 8:23 pm By:
Inheritance and Genetics of Autosomal dominant polycystic kidney disease - http://bit.ly/bVbZ6N
Gene Therapy Cures Inherited Form Of Day Blindness In Canines
medicalnewstoday.com — “Veterinary ophthalmology researchers from the University of Pennsylvania have used gene therapy to restore retinal cone function and day vision in two canine models of congenital achromatopsia, al” View full resource at medicalnewstoday.com
Most Recently Shared on April 22, 2010 at 6:19 pm By:
Gene Therapy Cures Inherited Form Of Day Blindness In Canines http://mnt.to/3BD8 #eyehealth
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus - Ravenscroft - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
onlinelibrary.wiley.com — “Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus - Ravenscroft - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library” View full resource at onlinelibrary.wiley.com
Most Recently Shared on December 29, 2010 at 7:03 am By:
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus: (Source: A... http://bit.ly/ge8DKS
ScienceDirect - Clinical Immunology : Deficient T Cell Receptor Excision Circles (TRECs) in Autosomal Recessive Hyper IgE Syndrome Caused by DOCK8 Mutation: Implications for pathogenesis and potential detection by newborn screening
sciencedirect.com — “ScienceDirect - Clinical Immunology : Deficient T Cell Receptor Excision Circles (TRECs) in Autosomal Recessive Hyper IgE Syndrome Caused by DOCK8 Mutation: Implications for pathogenesis and potential detection by newborn screening” View full resource at sciencedirect.com
Most Recently Shared on June 26, 2011 at 2:18 am By:
DrD Physician, Doctor, and Internist
newborn screening for SCID may detect AR HyperIgE syndrome http://t.co/ZOzn2O6
Neuromuscular diseases - spinal muscle atrophy Ppt Powerpoint Presentation slides-Medical Slideshow PPT- Spinal muscular atrophy is an autosomal recessive neurodegenerative disease- Slideworld: Medical Search Engines
slideworld.org — “Powerpoint Neuromuscular diseases - spinal muscle atrophy Slides by Ahmed faculty of physical therapy - cairo university PPT- Spinal muscular atrophy is an autosomal recessive neurodegenerative disease- Slideworld: Medical Search Engines Download Free Medical Powerpoint Presentations” View full resource at slideworld.org
Most Recently Shared on January 8, 2011 at 2:50 pm By:
Medical Templates Health Organization
Neuromuscular diseases - spinal muscle atrophy: introduction to neuro-muscular diseases + spinal muscule atrophy... http://bit.ly/hZI9g9
Hidradenitis suppurativa (or Acne inversa) with autosomal dominant inheritance is not linked to chromosome 1p21.1-1q25.3 region - Saleh Al-Ali - 2010 - Experimental Dermatology - Wiley Online Library
onlinelibrary.wiley.com — “Hidradenitis suppurativa (or Acne inversa) with autosomal dominant inheritance is not linked to chromosome 1p21.1-1q25.3 region - Saleh Al-Ali - 2010 - Experimental Dermatology - Wiley Online Library” View full resource at onlinelibrary.wiley.com
Most Recently Shared on August 13, 2010 at 10:52 am By:
Hidradenitis suppurativa (or Acne inversa) with autosomal dominant inheritance is not linked to chromosome 1p21.1â... http://bit.ly/aQpO7U
Wilson Disease: eMedicine Gastroenterology
emedicine.medscape.com — “Overview: Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism. The condition is characterized by excessive deposition of copper in the liver, brain, and other tissues. The major physiologic aberration is excessive absorption of ...” View full resource at emedicine.medscape.com
Most Recently Shared on June 2, 2010 at 7:27 pm By:
Susan Scroggins Active Health Library and Health Advocate
Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism. More about Wilson disease. http://bit.ly/brn5Rf
Embryonic Stem Cells Help Deliver 'Good Genes' In A Model Of Inherited Blood Disorder
medicalnewstoday.com — “Researchers at Nationwide Children's Hospital report a gene therapy strategy that improves the condition of a mouse model of an inherited blood disorder, Beta Thalassemia. The gene correction inv” View full resource at medicalnewstoday.com
Most Recently Shared on January 12, 2011 at 1:05 pm By:
Embryonic Stem Cells Help Deliver 'Good Genes' In A Model Of Inherited Blood Disorder http://mnt.to/3PSw #healthnews
Renin Mutations As a Cause of Inherited Interstitial Kidney Disease - Renal and Urology News
renalandurologynews.com — “An international research team led by Stan Kmoch, PhD, of the Center for Applied Genomics and Institute for Inherited Metabolic Disorders of Charles University in Prague, Czech Republic, have identified a number of families suffering from a mutation in the signal peptide of the renin gene that lead to the development of autosomal dominant CKD.” View full resource at renalandurologynews.com
Most Recently Shared on March 26, 2011 at 4:43 am By:
Renal Urology News Urology, Medical Publisher, Health News, and Nephrology
Renin Mutations As a Cause of Inherited Interstitial Kidney Disease: An international research team led by Stan ... http://bit.ly/fibvjn
Niemann-Pick Disease: eMedicine Dermatology
emedicine.medscape.com — “Overview: Niemann-Pick disease (NPD) comprises an autosomal recessively inherited group of congenital lipidoses in which sphingolipids accumulate in cells, especially reticuloendothelial cells, throughout the body.The following 6 types of Niemann-Pick disease have been described:Type A - ...” View full resource at emedicine.medscape.com
Most Recently Shared on April 21, 2010 at 11:05 pm By:
Susan Scroggins Active Health Library and Health Advocate
Niemann-Pick disease refers to a group of fatal inherited metabolic disorders. Learn more about Niemann-Pick disease. http://bit.ly/csRuX4
Cutis Laxa (Elastolysis): eMedicine Dermatology
emedicine.medscape.com — “Overview: Cutis laxa (CL), or elastolysis, is a rare, inherited or acquired connective tissue disorder in which the skin becomes inelastic and hangs loosely in folds. The clinical presentation and the mode of inheritance show considerable heterogeneity. ...” View full resource at emedicine.medscape.com
Most Recently Shared on April 19, 2010 at 12:18 am By:
Cutis laxa is a rare inherited or acuired connective tissue disorder where the skin becomes inelastic & hangs in folds.http://bit.ly/bqin2B
Epidermodysplasia Verruciformis: eMedicine Dermatology
emedicine.medscape.com — “Overview: Epidermodysplasia verruciformis (EV) is a rare, inherited disorder that predisposes patients to widespread human papillomavirus (HPV) infection and cutaneous squamous cell carcinomas.1, 2 Although epidermodysplasia verruciformis is most commonly inherited in an autosomal recessive manner, ...” View full resource at emedicine.medscape.com
Most Recently Shared on April 23, 2010 at 3:41 am By:
Susan Scroggins Active Health Library and Health Advocate
Epidermodysplasia verruciformis is a rare, genetic disorder that predisposes patients to HPV infection and skin cancer.http://bit.ly/acUY0w
Friedreich Ataxia: eMedicine Neurology
emedicine.medscape.com — “Overview: Friedreich ataxia (FA, FRDA, FRIEDREICH ATAXIA 1, OMIM# *229300) is an autosomal recessive ataxia resulting from a mutation of a gene locus on chromosome 9. It was first described in 1863 by Nikolaus Friedreich, a professor ...” View full resource at emedicine.medscape.com
Most Recently Shared on June 18, 2010 at 9:53 pm By:
Medscape Neurology Neurology and Health Site
Friedreich Ataxia: http://bit.ly/bZ29XP
Acrodermatitis Enteropathica: eMedicine Dermatology
emedicine.medscape.com — “Overview: Acrodermatitis enteropathica is a rare inherited form of zinc deficiency, characterized by periorificial and acral dermatitis, alopecia, and diarrhea. Pathophysiology Zinc is an essential trace nutrient required for the proper function of more than 100 enzymes ...” View full resource at emedicine.medscape.com
Most Recently Shared on April 20, 2010 at 11:45 pm By:
Acrodermatitis enteropathica is a rare inherited form of zinc deficiency. Learn symptoms and more. http://bit.ly/cqXjkd
Bloom Syndrome (Congenital Telangiectatic Erythema): eMedicine Dermatology
emedicine.medscape.com — “Overview: Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder characterized by telangiectases and photosensitivity, growth deficiency of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types. The ...” View full resource at emedicine.medscape.com
Most Recently Shared on April 21, 2010 at 3:33 am By:
Bloom's syndrome is a extremely rare inherited disorder involving breaks & rearrangements in chromosomes. http://bit.ly/axscOq
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