61. ZapMeta Directory > Health > Conditions And Diseases > Genetic Disorders > Shwac Web Sites in Category shwachman syndrome Display results 1 7 of 7 matches. •. NORD shwachman syndrome open this site in a new window Past Versions http://www.zapmeta.com/search/meta/db.pl?dir=552319

62. Health Library - shwachman syndrome. Important It is possible that the main title of the report shwachman syndrome is not the name you expected. Please http://myhealth.barnesjewish.org/library/healthguide/illnessconditions/topic.asp

63. Abstract ABSTRACT. Chromosome 7 instability and myelodysplasia in shwachman syndrome. MP Cecchini 1 , E Maserati 1 , M Stefanelli 2 , B Crescenzi http://web.feccbologna.it/2_16.htm

ABSTRACT Chromosome 7 instability and myelodysplasia in Shwachman syndrome MP Cecchini , E Maserati , M Stefanelli , B Crescenzi , C Matteucci , A Minelli , C Mecucci , F Lo Curto , F Pasquali Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Università dell’Insubria, Varese, Italy Emato-Oncologia Pediatrica, Ospedale Silvestrini, Perugia, Italy Ematologia, Università di Perugia, Perugia, Italy Genetica Medica, Università di Pavia, Pavia, Italy A significant proportion of patients of Shwachman Syndrome (SS), an autosomic recessive disorder, develop a Myelodysplastic Syndrome (MDS) and/or Acute Myeloid Leukaemia (AML). Most of these show typical chromosome changes in the bone marrow (BM), as anomalies of chromosome 7 (isochromosome i(7q) is frequent), and deletion del(20)(q11). We reviewed 8 cases of SS with chromosome 7 anomalies in their BM, and 3 out of 6 cases with del(20)(q11), who did not develop MDS/AML. We report two cases of SS without MDS/AML, with specific clonal BM anomalies, and showing signs of karyotype instability with rearrangements of chromosome 7 in peripheral blood (PB) cells. Case 1: MF, male, born in 1992. Chromosome and FISH analyses on BM consistently showed the isochromosome i(7q) since 1999; different analyses on PB PHA-stimulated cultures showed a small clone with a pericentric inversion of a chromosome 7, in 2000, and cells with different structural rearrangements of the 7, in 2001. Case 2: PM, male, born in 1988. BM chromosome and FISH analyses consistently showed a deletion del (20)(q11), which included the minimal deleted region of MDS, in 2000-2002. PB cultures disclosed one single cell with the isochromosome i(7q), in 2002.

64. SHWACHMAN SYNDROME Definition Home/S/Sh/shwachman syndrome. Medical Dictionary Search Engine. Advertise on this site! A service of healthlink-net.com. Browse Dictionary Alphabetically. http://www.books.md/S/dic/Shwachmansyndrome.php

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65. Washington University Medical News Louis with their 3 and 4-year-old daughters to attend the first international conference on shwachman syndrome, a rare genetic disorder that causes http://medicine.wustl.edu/~wumpa/news/shwachman.html

Office of Medical Public Affairs, Washington University School of Medicine at Washington University Medical Center, Campus Box 8508, 4444 Forest Park Ave., St. Louis MO 63108-2259, (314) 286-0100 FAX: (314) 286-0199 NEWS Contact: Diane Duke SCHOOL HOSTS FIRST INTERNATIONAL CONFERENCE ON RARE CHILDHOOD DISEASE St. Louis, Aug. 5, 1997 Al and Jenny Jenuwine of Allenton, Mich., will be traveling to St. Louis with their 3- and 4-year-old daughters to attend the first international conference on Shwachman Syndrome, a rare genetic disorder that causes malnutrition and a range of other physical problems in children. Emily and Kelsey Jenuwine are severely affected by the disease. The conference will be held at Washington University School of Medicine from 8 a.m. to 4 p.m. Aug. 8 and 9 in the Eric P. Newman Education Center, 320 S. Euclid Ave. The School of Medicine's Division of Pediatric Gastroenterology and St. Louis-based Shwachman Syndrome Support International are co-sponsoring the conference, which is open to health professionals and Shwachman patients and their families. Physicians and families from six countries, including Australia, will attend, and several prominent researchers will offer presentations. "I look at this conference as a first chance for physicians and families to get together to learn more about this unusual problem," said Robert J. Rothbaum, M.D., associate professor of pediatrics and the conference's program director.

66. Health Library - shwachman syndrome. Self Help Clearinghouse. Newsletter. Supports research. WRITE shwachman syndrome Support International 5195 Hampsted Village Ctr. http://hvlib.integris-health.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc

67. Karger Publishers External Resources 4 Kent A, Murphy GH, Milla P Psychological characteristics of children with shwachman syndrome. Arch Dis Child 1990;6513491352. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

68. P53 Protein Overexpression In Shwachman-Diamond Syndrome 1157–1158. p53 Protein Overexpression in ShwachmanDiamond Syndrome. shwachman syndrome exocrine pancreatic dysfunction and variable phenotypic expression. http://arpa.allenpress.com/arpaonline/?request=get-document&doi=10.1043/1543-216

69. Searchport II Search Engine: Society shwachman syndrome Support International Formerly shwachman syndrome Intl. Also known as shwachman syndrome, ShwachmanBodian Syndrome Burke Syndrome. http://www.searchport.org/cgi-bin/tsearch/hyper.pl?action=cat&name=Society&amt=1

70. Blackwell Synergy - Cookie Absent Shwachman s syndrome. shwachman syndrome phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. http://www.blackwell-synergy.com/links/doi/10.1111/j.0009-9163.2004.00198.x/full

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71. ADC -- Abstracts: Kent Et Al. 65 (12): 1349 PAPERS. Psychological characteristics of children with shwachman syndrome. A Kent, GH Murphy and P Milla Hospital for Sick Children, London. http://adc.bmjjournals.com/cgi/content/abstract/archdischild;65/12/1349

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles in ADC Online PubMed PubMed Citation Search PubMed for articles by: Kent, A Milla, P Alert me when: new articles cite this article Download to Citation Manager PAPERS Psychological characteristics of children with Shwachman syndrome A Kent, GH Murphy and P Milla Hospital for Sick Children, London. Twelve children and young adults with Shwachman syndrome were compared with their unaffected siblings and with controls suffering from cystic fibrosis in terms of intellectual ability, motor skills, and behaviour. There were highly significant differences in intelligence quotient between those with Shwachman syndrome and the other two groups. Four of the index subjects but none of the control subjects were below the normal range. The differences between groups on other tests of cognitive and motor skills were not significant, though those with Shwachman syndrome tended to have the lowest scores. There was no evidence that those with Shwachman syndrome had more

72. Health Information Resource Database: Shwachman-Diamond Syndrome International The ShwachmanDiamond Syndrome International (formerly shwachman syndrome Support) is a non-profit group that operates on national and international levels. http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2515

73. Nature Publishing Group support from Shwachman–Diamond Syndrome Canada, Shwachman–Diamond Support of Great Britain, The Harrison Wright Appeal, shwachman syndrome Support of http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v33/n1/full/ng1062.h

74. Health Library - shwachman syndrome. This Newsletter. Supports research. WRITE shwachman syndrome Support International 5195 Hampsted Village Ctr. Way http://healthinfo.carolinas.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc2

75. Shwachman Diamond Support organization helping the victims of this disease. Provides a network for families to receive information, advocacy, and emotional support, and keep abreast of the most current medical information available. http://www.shwachman-diamond.org/

SHWACHMAN-DIAMOND SYNDROME FOUNDATION Formerly known as: Shwachman-Diamond Syndrome International Please take note of New Address and Name change 710 Brassie Drive Grand Junction, Colorado 81506 U.S.A. Toll Free 877-SDS-INTL or (614) 939-2324 Fax (970) 255-8293 WEB: www.shwachman-diamond.org Email: 4sskids@shwachman-diamond.org What is SDSF: Shwachman-Diamond Syndrome Foundation is a nonprofit support organization helping the victims of this disease. Our primary goals are to link families for emotional support locally, nationally and internationally, and supply them with the most current medical information available. This information is provided through the knowledge and cooperation of our medical advisory board. We are in the forefront of the fight to find a cure for this disease. This organization was founded in 1994 by concerned parents. Our membership is comprised of children and adults with Shwachman-Diamond Syndrome, their parents, families, friends, and concerned medical professionals. We are now offering support to families in seventeen countries from around the world and our membership is growing daily. This is the only official website for Shwachman-Diamond Syndrome Support Foundation. a 501(c)(3) tax exempt organization under U.S. Internal Revenue Code. All medical information on this site is approved by medical advisors. We are not responsible for the accuracy of any medical information on Shwachman-Diamond Syndrome provided by any other website.

76. Shwachman - Diamond Syndrome http://www.shwachman.org/

77. Shwachman-Diamond America shwachmanDiamond America, Charity site dedicated to Funding and promoting research in all aspects of shwachman-Diamond syndrome (SDS), and to Facilitate doctors developing a medical management http://www.shwachmandiamondamerica.org/

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78. Shwachman-Diamond America Profiles SDA, a nonprofit that educates doctors and families about shwachmandiamond syndrome and also supports research. http://shwachmandiamondamerica.org

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79. Shwachman's Syndrome Medical Definition Of Shwachman's Syndrome In The Medical D Definition of shwachman s syndrome in the Medical Dictionary and Thesaurus. Provides search by definition of shwachman s syndrome. http://medical-dictionary.thefreedictionary.com/Shwachman's Syndrome

Dictionaries: General Computing Medical Legal Encyclopedia Shwachman's Syndrome Word: Word Starts with Ends with Definition Pronunciation: (SHWAHK-munz sin-drohm) A digestive and respiratory disorder of children. Certain digestive enzymes are missing and white blood cells are few. Symptoms may include diarrhea and short stature. Some words with "Shwachman's Syndrome" in the definition: Abdominal Migraine amyloidosis Biliary Dyskinesia Colorectal Cancer ... syndrome x Previous Medical Dictionary Browser Next Sclerotherapy secondary diabetes Secretin ... Somatostatin Full Dictionary Browser shuttle bus Shuttle Carrier Aircraft (enc.) Shuttle Cock (enc.) shuttle diplomacy shuttle helicopter Shuttle Orbiter Challenger (enc.) Shuttle program (enc.) shuttle race Shuttle shell Shuttle sort (enc.) Shuttle Tyderium (enc.) Shuttlecock Shuttlecock (enc.) shuttlecock fern Shuttlecork Shuttlecraft (enc.) Shuttlewise Shuunan (enc.) Shvetambara (enc.) shwa Shwan-pan Shwarma (enc.) Shy Shy (enc.) shy away from Shy bladder syndrome (enc.) Shy FX (enc.) shy person Shy-Drager syndrome (enc.)

80. SHWACHMAN'S SYNDROME - Meaning And Definition Of The Word Search Dictionary shwachman S syndrome Dictionary Entry and Meaning. Medical Dictionary. Definition digestive and respiratory disorder http://www.hyperdictionary.com/medical/shwachman's syndrome

English Dictionary Computer Dictionary Thesaurus Dream Dictionary ... Medical Dictionary Search Dictionary: SHWACHMAN'S SYNDROME: Dictionary Entry and Meaning Medical Dictionary Definition: digestive and respiratory disorder of children in which certain digestive enzymes are missing and white blood cells are few. HOME ABOUT HYPERDICTIONARY

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