21. Arch Dermatol -- Page Not Found 137;9293, January 2001, Is Kinky-Hair Disease a Misnomer for menkes syndrome?, JennyPowell, BA, MRCP; David JP Ferguson, PhD, DSc; Rodney PR Dawber, MA, FRCP. http://archderm.ama-assn.org/issues/v137n1/ffull/dlt0101-1.html

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery MSJAMA Science News Updates Meetings Peer Review Congress The page you requested was not found. The JAMA Archives Journals Web site has been redesigned to provide you with improved layout, features, and functionality. The location of the page you requested may have changed. To find the page you requested, click here HOME CURRENT ISSUE PAST ISSUES ... HELP Error 404 - "Not Found"

22. Arch Dermatol -- Page Not Found Diagnosis menkes syndrome (kinkyhair disease). MICROSCOPIC Menkessyndrome was originally described in 1962 by Menkes et al. 1 http://archderm.ama-assn.org/issues/v136n3/ffull/dof0300-1b.html

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery MSJAMA Science News Updates Meetings Peer Review Congress The page you requested was not found. The JAMA Archives Journals Web site has been redesigned to provide you with improved layout, features, and functionality. The location of the page you requested may have changed. To find the page you requested, click here HOME CURRENT ISSUE PAST ISSUES ... HELP Error 404 - "Not Found"

23. ATP7A CM942029, 167, tCAATAA, Gln-Term, menkes syndrome, 1. CM970124, 409, aCGA-TGA,Arg-Term, menkes syndrome, 2. CM010775, 487, TCA-TAA, Ser-Term, menkes syndrome,3. http://www.uwcm.ac.uk/uwcm/mg/ns/1/119395.html

Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference tCAA-TAA Gln-Term Menkes syndrome aCGA-TGA Arg-Term Menkes syndrome TCA-TAA Ser-Term Menkes syndrome aGAA-TAA Glu-Term Menkes syndrome TGCg-TGA Cys-Term Menkes syndrome aGCT-CCT Ala-Pro Menkes syndrome TCA-TGA Ser-Term Menkes syndrome aCGA-TGA Arg-Term Menkes syndrome aGAA-TAA Glu-Term Menkes syndrome aGAA-TAA Glu-Term Menkes syndrome CTT-CGT Leu-Arg Menkes syndrome TTA-TAA Leu-Term Menkes syndrome cGGA-AGA Gly-Arg Menkes syndrome cCGA-TGA Arg-Term Menkes syndrome CTC-CGC Leu-Arg Menkes syndrome cCAG-TAG Gln-Term Menkes syndrome aCAA-TAA Gln-Term Menkes syndrome TGG-TAG Trp-Term Menkes syndrome cCGA-TGA Arg-Term Menkes syndrome aCGA-TGA Arg-Term Menkes syndrome CTG-CCG Leu-Pro Menkes syndrome GGT-GAT Gly-Asp Menkes syndrome tGAA-TAA Glu-Term Menkes syndrome GGT-GAT Gly-Asp Menkes syndrome tGGA-AGA Gly-Arg Menkes syndrome tGGA-AGA Gly-Arg Menkes syndrome GCT-GTT Ala-Val Menkes syndrome References 1 - Das (1994) Am J Hum Genet 2 - Tumer (1997) Am J Hum Genet ... Hum Mol Genet HGMD

24. ATP7A Phenotype, Reference. CD972020, 378, GACACAA^GAAaCTGTGATAAA, menkes syndrome,1. CD972021, 411, ACGAGTC^TCCcTTGCAAATAG, menkes syndrome, 1. CD000919, http://www.uwcm.ac.uk/uwcm/mg/ns/4/119395.html

Small deletions Accession Number Location/ codon Deletion Phenotype Reference GACACAA^GAAaCTGTGATAAA Menkes syndrome ACGAGTC^TCCcTTGCAAATAG Menkes syndrome GGAACTT^GTT_E6I6_gtaaGTAAGATTTT Occipital horn syndrome CATAAA^ATAGagTCTAGTCTCA Menkes syndrome CAAAA^CACAGagGGATCCTATA Menkes syndrome AAAGCA^CATAtTAAATATGAC Menkes syndrome AATA^AGACA_E8I8_GtaAGTACTTTGG Menkes syndrome CCATAAT^CAAaACATGAGTAA Menkes syndrome TGCCTAC^TCTttGATTATTCTT Menkes syndrome AATGTAT^GAGagagCCAAAGTGAA Menkes syndrome ACCCT^ATTACtttctttgacacacCCCCTATGCT Menkes syndrome TGGATTT^CTGaATTTTGAAAT Menkes syndrome AAGTATC^TCCcGAACAGAAAC Menkes syndrome TATTGC^AAACag_E16I16_GTACATTTTT Menkes syndrome TCTTCC^ATGAtTATTGATGCC Menkes syndrome GTGAAG^CCTGaAGCAGAACTG Menkes syndrome GAGGAG^GGGAaACGGGTAGCA Menkes syndrome TTTTG^ATAAGg_E20I20_GTAAGTGCCA Menkes syndrome AG_I20E21_AAT^GATCTtctGGATGTAGTG Menkes syndrome TATGCCC^ATTggtttggtttTGCAGCCCTG Menkes syndrome ATCTGTT^TCTgtAGTACTTTCT Menkes syndrome TCCTAAA^CTGgGTTTGCTGGA Occipital horn syndrome References 1 - Tumer (1997) Am J Hum Genet 2 - Moller (2000) Am J Hum Genet ... Am J Hum Genet HGMD

25. Menkes Syndrome menkes syndrome. Definition Causes, incidence, and risk factors Menkessyndrome is inherited as an Xlinked recessive disorder. http://www.pennhealth.com/ency/article/001160.htm

Disease Injury Nutrition Poison ... Prevention Menkes syndrome Definition: An inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper. Alternative Names: Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease Causes, incidence, and risk factors: Menkes syndrome is inherited as an X-linked recessive disorder. The disorder is related to deficient levels of copper availability to cells. Symptoms include progressive mental deterioration, kinked, twisted and brittle hair, as well as skeletal changes. Death usually occurs in the first few years of life. About 1 in 300,000 individuals are affected. Review Date: 11/12/2001 Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

26. Menkes Syndrome menkes syndrome. Alternative Names Consult with your health care provider if youhave a family history of menkes syndrome and you plan to have children. http://www.pennhealth.com/ency/article/001160trt.htm

Disease Injury Nutrition Poison ... Prevention Menkes syndrome Alternative Names: Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease Treatment: Injection of copper has been used with mixed results. Present therapy consists of: copper acetate administered into a vein (intravenously) subcutaneous (injected under the skin) copper histidinate Support Groups: Corporation for Menkes Disease 5720 Buckfield Court Fort Wayne, IN 46814 Phone: 219-436-0137 E-mail : j1@home.com Expectations (prognosis): Menkes is a serious disorder with early death being common. Complications: Seizures, abnormally light pigmentation of the skin and hair. Death usually occurs in the first few years of life. Calling your health care provider: Consult with your health care provider if you have a family history of Menkes syndrome and you plan to have children. A baby with this condition will often show symptoms early in infancy. Review Date: 11/12/2001 Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

27. Menkes Syndrome Browse forwards .. Menu. menkes syndrome; Kinky (or Steely) Hair Disease.Synonyms Copper Transport Disease McKusick No. 30940. 1. Physical. Pili torti. http://oxmedinfo.jr2.ox.ac.uk/Pathway/Disease/79421.htm

Metabolic pathway illustrated Browse backwards Browse forwards Menu Menkes Syndrome; Kinky (or Steely) Hair Disease Synonyms Copper Transport Disease McKusick No. 1. Physical Pili torti 2. Neurological 3. Gastrointestinal 4. Renal 5. Bone 6. Comment 7. Haematological 8. Biochemical Enzyme Copper transport defect. EC number ................Diagnostics and therapy................ Treatment None available Carrier detection Examination of multiple hairs from different parts of the scalp for pili torti. Prenatal diagnosis Possible Expand periodical title abbreviations MBID (1989) Chapter 54 This page last modified 11 Feb 1996. Pathway Webmaster, Oxford, UK

28. ...Menkes Syndrome syndrome. ABSTRACT. menkes syndrome is an Xlinked recessive disorderwith a defect in the intestinal absorption of copper. The gene http://www.imbiomed.com.mx/Patol/Ptv44n2/english/Zpt72-01.html

Navarrete C, Castillo-Medina S, Salamanca F Estudios clínico, génetico y ultraestructural en una familia mexicana con Síndrome de Menkes Rev Mex Patol Clín, Clinical, genetic and ultrastructural study in a Mexican family with Menkes´ syndrome ABSTRACT Menkes syndrome is an X-linked recessive disorder with a defect in the intestinal absorption of copper. The gene has been mapped to Xq13.3, distal to the X inactivation center. Detection of carriers is complicated due generally to the fact that they are phenotypically normal. The findings in a Mexican family in which the mother was found to be obligate carrier with two affected sons are discussed. Key words: Menkes´ syndrome, copper metabolism, detection of carriers. Main Index Return to Index H O M E Solicitude of articles ... Search

29. ORPHANET® : Menkes Syndrome Translate this page ORPHANET. ORPHANET database access. menkes syndrome. Directaccess to details Alias Kinky hair syndrome. Home Page. http://www.orpha.net/static/GB/menkes.html

ORPHANET database access Menkes syndrome Direct access to details Alias : Home Page

30. JAX®Mice Database - Mouse/Human Gene Homologs: Menkes Syndrome Search Criteria Area is Mouse/Human Gene Homologs menkes syndrome .JAX®Mice Strains. Stock Number, Strain Name (link to Data Sheet http://jaxmice.jax.org/jaxmicedb/html/model_1018.shtml

Mice Orders Services Strain Information Research Models ... E-Mail Alerts Search Criteria: Area is "Mouse/Human Gene Homologs: Menkes syndrome" Stock Number Strain Name (link to Data Sheet) Strain Type Standard Supply B6.Cg- Mo-blo Level 5 Cryopreserved. See Options 1, 2 and 3 listed in Supply Note field on data sheet. B6.Cg- Mo-pew2J Level 5 Cryopreserved. See Options 1, 2 and 3 listed in Supply Note field on data sheet. B6.Cg- Mo-to Level 5 Cryopreserved. See Options 1, 2 and 3 listed in Supply Note field on data sheet. B6Ei.Cg- Mo-blo Level 4: Up to 3 breeder pairs or 6 individual mice per order total; 1 order at a time. Expected delivery for most strains is 1 to 3 months. Call to inquire about ordering greater quantities. C3H/HeJ- Mo-brJ Level 5 Cryopreserved. See Options 1, 2 and 3 listed in Supply Note field on data sheet. Mo-br Level 4: Up to 3 breeder pairs or 6 individual mice per order total; 1 order at a time. Expected delivery for most strains is 1 to 3 months. Call to inquire about ordering greater quantities. CBA/J- Mo-pew Level 4: Up to 3 breeder pairs or 6 individual mice per order total; 1 order at a time. Expected delivery for most strains is 1 to 3 months. Call to inquire about ordering greater quantities.

31. JAX Mice Database - Mouse Models List syndrome; LiFraumeni syndrome; Marfan syndrome; menkes syndrome; NeurofibromatosisType I; Niemann-Pick disease, type C; Pelger-Huet anomaly; http://jaxmice.jax.org/jaxmicedb/html/sbmodel_974.shtml

Mice Orders Services Strain Information Research Models ... E-Mail Alerts Mouse Model Lists Mouse/Human Gene Homologs All Mouse/Human Gene Homologs Strains Alport syndrome Alzheimer's Bruton agammaglobulinemia tyrosine kinase ... The Jackson Laboratory

32. Welcome To ENH.org - Health Encyclopedia: Menkes Syndrome menkes syndrome. menkes syndrome is inherited as an Xlinked recessive disorder.The disorder is related to deficient levels of copper availability to cells. http://www.enh.org/Encyclopedia/ency/article/001160.asp

Disease Reference Injury Reference Test Reference Nutrition Reference ... Symptoms Reference Menkes syndrome Disease Injury Nutrition Poison ... Z Definition: An inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper. Alternative Names: Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease Causes, incidence, and risk factors: Menkes syndrome is inherited as an X-linked recessive disorder. The disorder is related to deficient levels of copper availability to cells. Symptoms include progressive mental deterioration, kinked, twisted and brittle hair, as well as skeletal changes. Death usually occurs in the first few years of life. About 1 in 300,000 individuals are affected. Symptoms: pudgy, rosy cheeks floppy baby ( hypotonia irritability seizures brittle, kinky hair feeding difficulties low body temperature bone spurs Signs and tests: There is often a history of Menkes syndrome in a male relative. Signs include slow growth in the womb, abnormally low body temperature, bleeding in the brain and abnormal appearance of the hair under the microscope. Males will have 100% of their hairs show abnormal structure but carrier-females may show only half the hairs to be abnormal. Tests: X-ray of the skeleton or X-ray of the skull may show abnormal bone appearance (Wormian bones and metaphyseal widening) serum copper level may be low copper level in cultured skin cells (fibroblasts) is up to 5 times elevated serum ceruloplasmin level may be low

33. Health Ency.: Disease: Menkes Syndrome menkes syndrome. menkes syndrome is inherited as an Xlinked recessive disorder.The disorder is related to deficient levels of copper availability to cells. http://www.austin360.com/shared/health/adam/ency/article/001160.html

SEARCH: The Web Yellow Pages HOME Illustrated Health Encyclopedia Important notice Ency. home Disease M Menkes syndrome Overview Symptoms Treatment Prevention Alternative names: Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease Definition: An inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper. Causes and Risks Menkes syndrome is inherited as an X-linked recessive disorder. The disorder is related to deficient levels of copper availability to cells. Symptoms include progressive mental deterioration, kinked, twisted and brittle hair, as well as skeletal changes. Death usually occurs in the first few years of life. About 1 in 300,000 individuals are affected. Ency. home Disease M Please read this Important notice Also Check Out Home Autos Classifieds Events ... Our Sponsors By using Austin360 you accept the terms of our Visitor Agreement . Please read it. Privacy statement Registered site users: edit your profile var v=1.0; v=1.1; v=1.2;

34. Health Ency.: Disease: Menkes Syndrome menkes syndrome. Consult with your health care provider if you have afamily history of menkes syndrome and you plan to have children. http://www.austin360.com/shared/health/adam/ency/article/001160trt.html

SEARCH: The Web Yellow Pages HOME Illustrated Health Encyclopedia Important notice Ency. home Disease M Menkes syndrome Overview Symptoms Treatment Prevention Alternative names: Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease Treatment Injection of copper has been used with mixed results. Present therapy consists of: copper acetate administered into a vein (intravenously) subcutaneous (injected under the skin) copper histidinate Prognosis Menkes is a serious disorder with early death being common. Complications Seizures, abnormally light pigmentation of the skin and hair. Death usually occurs in the first few years of life. Call Your Health Care Provider If: Consult with your health care provider if you have a family history of Menkes syndrome and you plan to have children. A baby with this condition will often show symptoms early in infancy. Ency. home Disease M Please read this Important notice Also Check Out Home Autos Classifieds Events ... Our Sponsors By using Austin360 you accept the terms of our Visitor Agreement . Please read it. Privacy statement Registered site users: edit your profile var v=1.0;

35. Justin Gordon And Menkes Syndrome's Dreambook scripted Justin Gordon and menkes syndrome Comments hi iam in 8th grade i havelost a few people to menkes syndrome. i will pray for you and your famliy. http://books.dreambook.com/dani27/justin.html

Justin Gordon and Menkes Syndrome Welcome to Dreambook , a nifty new free service from: New Dream Network Dreamhost , and Dreamservers If you have a minute, please sign my Dreambook too! Name: nicole E-mail address: nmmoore@uncg.edu Comments: I hope that you continue to have a happy and healthy life. Thank you for sharing your experience with me for a project for class. Friday, March 28th 2003 - 09:36:26 AM Name: nicole Geyer E-mail address: nickymate@yahoo.com.au Comments: Dear Justin and Dani, I like visiting your website at least once a week. I am so glad that you are doing so well and still such a happy little boy. It has almost been a year since Jackson went to heaven and not a day goes by that his daddy and I don't think about him. He continues to bless us everyday, he sends us messages and the frames full of photos remind us of how lucky we were to have him, if only for a short time. I would like to add his photo to your website if you don't mind but am not too sure of how to go about it. If you could help me that would be great. Thinking of you all, Nicole and Kevin Geyer xxx Wednesday, March 19th 2003 - 05:16:29 PM

36. Dreambook - Justin Gordon And Menkes Syndrome Dreambook scripted Dreambook Justin Gordon and menkes syndromeSign my Dreambook! Name, Email address, Homepage URL, Comments, http://books.dreambook.com/dani27/justin.sign.html

Dreambook: Justin Gordon and Menkes Syndrome Sign my Dreambook Name E-mail address Homepage URL Comments View Guestbook Justin Gordon and Menkes Syndrome

37. Page Not Found menkes syndrome. Syndrome, menkes syndrome. Gene Name, ATPase, Cu++ transporting,alpha polypeptide. Gene Symbol, ATP7A. OMIM Number of the Gene, 300011. http://www.nidr.nih.gov/cranio/detail/309400.htm

Please check to see if you entered the correct URL. If you did, it might be that the link no longer exists. As an option, you may do a search of our site. If all else fails, please fill in the form below and send it to the webmaster to report the broken link. Your Name: Email Address: Please indicate the broken URL here: Your browser doesn't support JavaScript. It will, however, affect only two minor things: it will distort the page appearance and will disable the "printer-friendly version" link. NIDCR Home Page Contact us Accessibility Privacy statement ... Search Image in banner: magnified fluoride crystal National Institute of Dental and Craniofacial Research National Institutes of Health Bethesda, MD 20892-2190 e-mail: nidcrinfo@mail.nih.gov phone: 301/496-4261 National Institutes of Health Department of Health and Human Services

38. Page Not Found Leprechaunism, Diabetes mellitus, insulinresistant, with acanthosis nigricans.menkes syndrome. Metaphyseal chondrodysplasia, Murk Jansen type. http://www.nidr.nih.gov/cranio/molecule/tm.html

Please check to see if you entered the correct URL. If you did, it might be that the link no longer exists. As an option, you may do a search of our site. If all else fails, please fill in the form below and send it to the webmaster to report the broken link. Your Name: Email Address: Please indicate the broken URL here: Your browser doesn't support JavaScript. It will, however, affect only two minor things: it will distort the page appearance and will disable the "printer-friendly version" link. NIDCR Home Page Contact us Accessibility Privacy statement ... Search Image in banner: magnified fluoride crystal National Institute of Dental and Craniofacial Research National Institutes of Health Bethesda, MD 20892-2190 e-mail: nidcrinfo@mail.nih.gov phone: 301/496-4261 National Institutes of Health Department of Health and Human Services

39. Health Library Find Information On Menkes Syndrome At Find information on menkes syndrome at MerckSource. Learn more aboutMenkes menkes syndrome. Definition An inherited disorder that http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

40. Zeal.com - United States - New - Personal - Health - Conditions & Illnesses - Br A great resource for United States New - Personal - Health - Conditions Illnesses - Brain Nervous System - More Conditions - menkes syndrome. http://www.zeal.com/category/preview.jhtml?cid=274212

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