61. Electricbrain Home: Index: Health: Conditions And Diseases: Rare Disorders Syndrome Melorheostosis Moyamoya Pierre Robin Syndrome Pemphigus PhenylketonuriaRubinsteinTaybi Syndrome Barth Syndrome jacobsen syndrome Ollier Disease, http://www.electricbrain.com/index/Health/Conditions_and_Diseases/Rare_Disorders

electricbrain Index Health Conditions and Diseases : Rare Disorders home index write privacy ... Ollier Disease Famous quotes: Nothing ever becomes real till it is experienced even a proverb is no proverb to you till your life has illustrated it. John Keats Find someone: Old Friends New Friends Lost Love New Love ... privacy

62. Gopalrao Velagaleti, PhD EK Pivnick, GVN Velagaleti, RS Wilroy, ME Smith, SR Rose, RE Tipton AT Tharapeljacobsen syndrome report of a patient with severe eye anomalies, growth http://www.utmb.edu/pedi1/main/facbios/DivGENET/gvelagaleti.htm

Assistant Professor Department of Pediatrics Director, Cytogenetics Laboratory Division of Pediatric Genetics Route: 0359 Phone: (409) 772-9052 Email: govelaga@utmb.edu EDUCATION: BS Biology-Chemistry Andhra University, India MS Zool-Cytogenetics University of Mysore, India PhD Human Cytogenetics Bangalore University, India PROFESSIONAL CERTIFICATIONS AND LICENSES: American Board of Medical Genetics Clinical Cytogenetics State of Tennessee Medical Laboratory Director PROFESSIONAL EXPERIENCE: 1989-1992 Indo-German Exchange Fellow (DAAD), University of Goettingen, Goettingen, Germany 1992-1994 Clinical Cytogenetics Fellow, Children’s Medical Center, Tulsa, OK

63. Health Library - Chromosome 11, Partial Monosomy 11q s) covered by this report. Synonyms. jacobsen syndrome; JBS; Deletion11q Syndrome, Partial; Distal 11q Syndrome; Distal 11q Monosomy; http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

64. Specific Genetic Information jacobsen syndrome Also known as 11q deletion, it is a rare disorder thatincludes heart, speech/language, learning, and skeletal abnormalities. http://specialchildren.about.com/cs/specificinfo/

zfp=-1 About Parenting Special Needs Search in this topic on About on the Web in Products Web Hosting Parenting Special Needs with Jody Swarbrick Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects ESSENTIALS We're in this Together RAD Forum "Support Center" Start a Support Group ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Specific Genetic Information Guide picks Exact information in regard to specific genetic syndromes/disorders. About Cystic Fibrosis A debilitating genetic disorder characterized by lung and digestive problems. About's Guide to Pediatrics, Vincent Iannelli, MD offers substantial information. About Rett Syndrome Rett Syndrome is a rare neurological disorder, affecting one out of ten to twenty thousand births. It is often misdiagnosed as cerebral palsy or autism. It primarily occurs in females and it can strike all racial and ethnic groups. Neurofibromatosis Neurofibromatosis 1 (NF1) occurs in approximately 1 in 4,000 births. One of the leading characteristics of NF 1 is cafe-au-lait spots and neurofibromas on or under the skin. Neurofibromatosis 2 (NF2), is much rarer and occurs in approximately 1 in 40,000 births. NF2 is characterized by multiple tumors on the cranial and spinal cord. About Kids Pseudo-obstruction and Hirschsprung's Disease Dedicated to information, assistance, and support for those affected by GI disorders. From IFFGD, a nonprofit education and research organization.

65. Rare Disorders Cerebrocostomandibular Syndrome; Cleidocranial Dysplasia; Cystinosis;Degos; Erythromelalgia; jacobsen syndrome; Melorheostosis; Moyamoya; http://www.ad.com/Health/Conditions_and_Diseases/Rare_Disorders/

search Top Categories: Agnosia Aicardi Syndrome Alstrom Syndrome Barth Syndrome ... Cherubs A non-profit support group for the families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia. Category: Health > Conditions and Diseases > Rare Disorders http://www.cherubs-cdh.org/ Contact a Family Information about this organization as well as the CaF directory of specific conditions and rare disorders. Also details about the Rare Disorders Alliance - UK. Category: Health > Conditions and Diseases > Rare Disorders http://www.cafamily.org.uk/ Fibrous Dysplasia Support Online For those seeking support and information concerning the rare bone diseases: fibrous dysplasia, McCune Albright Syndrome and Cherubism. Category: Health > Conditions and Diseases > Rare Disorders http://members.cox.net/fdsupport/index.html Human Growth Foundation Information about growth-related disorders through education, research, and advocacy. Member driven organization. Category: Health > Conditions and Diseases > Rare Disorders http://www.hgfound.org/ International Rare Disease Support Network A community providing more than a 1000 different links to support groups for the people of all nations.

66. HIDROTIC ECTODERMAL DYSPLASIA PATHOGENESIS 1. Background. also called Clouston Ectodermal Dysplasia, FischerJacobsen-Clouston Syndrome, jacobsen syndrome, Ungual Ectodermal Dysplasia; http://www.icondata.com/health/pedbase/files/HIDROTIC.HTM

Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 7/08/98 HIDROTIC ECTODERMAL DYSPLASIA DEFINITION: An autosomal dominant disorder characterized by hypotrichosis, abnormal nails, and hyperkeratosis of the palms and soles. EPIDEMIOLOGY: incidence: rare age of onset: infancy -> childhood risk factors: familial - autosomal dominant with complete penetrance chrom.#: ? gene: ? M = F French and Chinese populations PATHOGENESIS: 1. Background also called Clouston Ectodermal Dysplasia, Fischer-Jacobsen- Clouston Syndrome, Jacobsen Syndrome, Ungual Ectodermal Dysplasia one in a heterogeneous group of disorders (there may be over 120 different types) characterized by a number of defects involving the teeth, skin, and appendageal structures (hair, nails, and eccrine and sebaceous glands): 1. Hypohidrotic (Anhidrotic) Ectodermal Dysplasia 2. Hidrotic Ectodermal Dysplasia (Clouston Type) 3. EEC Syndrome 4. Rapp-Hodgkin Ectodermal Dysplasia 5. Robinson-Type Ectodermal Dysplasia the Ectodermal Dysplasias may be due to disturbances in the tissue derived from ectoderm -> absent or hypoplastic glandular systems: 1. Eccrine Glands - sweating deficit

67. Rare Disorders The Fragile WEB Site Infomation on jacobsen syndrome, the chromosomedeletion syndrome, for the families and carers of JS patients. http://www.foundhealth.com/Health/Conditions_and_Diseases/Rare_Disorders/

Advertisement Foundhealth.com Search All Terms Any Term Tips Browse foundhealth.com Health calculators Fast Food Database Speakers Bureau How to evaluate sites Submit a site Contact us Home - main directory Top Health Conditions and Diseases : Rare Disorders Cyclic Vomiting Syndrome See also: Health: Conditions and Diseases: Genetic Disorders National Organization for Rare Disorders, Inc. - An organization helping people with rare disorders and disabilities. "Working toward the prevention, treatment, and cure of rare 'orphan' diseases." Site includes both a Rare Disease and Orphan Drug Database. Campylobacter Information - Frequently asked questions about Campylobacter from The Centers for Disease Control and Prevention. Canadian Organization for Rare Disorders - Committed to the enhancement of the lives of persons affected by rare disorders. Includes history of CORD and informational support network. Depersonalisation Support Forum - Sensation of feeling as if living in a dream, feeling of nothing being real, feeling detached from oneself, yet remaining aware this is just a sensation.

68. Contact Persons/Monthly Database Update Chromosome Deletion Outreach, Inc. (CDO) deletion 10p deletion (2 new members) 10q 26 deletion 10q26.2 deletion 10q26.3 deletion(2 new members) 11p 12,13 duplication 11q 24 jacobsen syndrome 12p 13.1 http://www.chromodisorder.org/disorder1.htm

About CDO Contact Us Join CDO Donate ... Volunteer Select a Page More about Chromosome Deletion Outreach Registered Chromosome Disorders CDO Family Stories Intro to Chromosome Abnormalities Ask the Doctor Library Resources Secure Application Form CDO Angels NICU Stories Guestbook T-Shirts FAQS Inspirational Chromosome Deletion Outreach, Inc. Monthly Database Update If you are a member of Chromosome Deletion Outreach, Inc. and wish to be a CDO regional, disorder or medical contact, please let us know. Volunteer parents are urgently needed to provide support and information to newly diagnosed families. CDO Members, do you need the name and address of any contact? Please click HERE This is a password protected document, please contact any CDO Board Member to access. 1p36.3 deletion 1p36 deletion 1q (24.2,25.3) deletion 2q37 deletion 2q37.2 deletion 4q21.1-21.3 deletion 4q27-31.3 deletion 4q31.3 -q33 deletion 6q 21, 22.32 deletion 7q32-qter duplication 8p deletion 8p21 deletion 8p23.1 deletion (3 new members) 8p21+ unknown duplication 9q deletion 10p deletion (2 new members) 10q 26 deletion 10q26.2 deletion

69. HEALTHMEDNET Jackson Weiss Syndrome. jacobsen syndrome. Jacquet's Dermatitis (DiaperRash). Jacquet's Erythema (Diaper Rash). JakobCreutzfeldt Disease. http://www.epscorp.com/healthmednet/j.htm

Directory Index HEALTHMEDNET Example Report Request ... DataBase Note: The names were derived from the specific illness/disease source directories. Therefore, there are some variations in the names. When ordering a list of URLs for your illness/disease, where possible, include the general usage, technical, acronym, and/or abbreviation names. Jackson Weiss Syndrome Jacobsen Syndrome Jacquet's Dermatitis (Diaper Rash) Jacquet's Erythema (Diaper Rash) Jakob-Creutzfeldt Disease Jansen Type Metaphyseal Chondrodysplasia Jansky-Bielschowsky Disease Japanese Encephalitis Jarcho Levin Syndrome Jaundice Jaundice Conditions Jaundice in Newborns (Hyperbilirubinemia) Jaundice, Neonatal Jaw Jaw Abnormalities Jaw Claudication Jaw Cysts Jaw Diseases Jaw Neoplasms Jaw Pain caused by TMJ Jaw, Broken Jaw, broken or dislocated Jaw, Edentulous Jaw, Lumpy Jejunal Atresia Jejunum Jellyfish and Portuguese Man-of-War Stings Jet Lag Jeune's Syndrome Jigger Job Syndrome Jock itch Jock itch (Ringworm) Jock Itch (Tinea Cruris) Johanson Blizzard Syndrome Joint Joint and Bone Infections Joint Aspiration Joint Conditions Joint contractures Joint Deformities, Acquired

70. Greenwood Genetic Center - Faculty Profile: Ron C. Michaelis, Ph.D., Research Sc GVN, Jones C, Pivnick EK, Phelan MC, Boyd E, Tunnacliffe A, Tarleton J, Wilroy RS,Tharapel AT The majority of jacobsen syndrome deletion breakpoints do not http://www.ggc.org/faculty/michael.html

Ron C. Michaelis, Ph.D. , Research Scientist Ph.D. (Psychology), Vanderbilt University, Nashville, TN, 1983 Predoctoral Fellow (NIMH), Vanderbilt University, Nashville, TN, 1978-1983 Fellow (NIMH), University of Oklahoma Health Sciences Center, 1983-1987 Fellow (Clinical Molecular Genetics), Greenwood Genetic Center, Greenwood, SC, 1993-1995 Dr. Michaelis' work involves a combination of diagnostic service work and research. His diagnostic work involves testing the DNA from patients who are suspected of having one of several genetic disorders to see if he can find a DNA mutation that is responsible for their condition and thereby confirm the suspected diagnosis. His research work involves trying to discover which genes are responsible for several disorders which are thought to be genetic disorders but for which a responsible gene has not yet been identified. Most of the patients he studies are mentally retarded or autistic. Some have physical deformities as well. The two projects with which Dr. Michaelis is most closely involved are the L1CAM mutation analysis project and the South Carolina Autism Project. Selected Publications: Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Penaherrera M

71. Community Connections > Disabilities > About > Jacobsen's Syndrome About jacobsen's syndrome. Overview. jacobsen's syndrome (11q Deletion or 11q) is a rare chrome disorder in which a http://www.arcofkingcounty.org/guide/disabilities/about/jacobsens

A Resource Guide for Children and Adults With Developmental Disabilities Community Connections Home Disabilities About About Jacobsen's Syndrome Overview Jacobsen's Syndrome (11q Deletion or 11q-) is a rare chrome disorder in which a portion of the 11th chromosome is missing. It affects about one in every 100,000 births. People who have this disorder may have heart problems, speech and language problems, specific facial characteristics, and mild to severe mental retardation, although many children with Jacobsen's are extremely capable. Causes Jacobsen's Syndrome is a genetic disorder with no known cause. It can be passed from either or both parents, or appear in an individual even if neither parent carries the gene abnormality that causes Jacobsen's. Characteristics Children who have Jacobsen's Syndrome may have some of a number of symptoms, including heart problems, speech and language problems, specific facial characteristics and mild to severe mental retardation. They often have ptosis (droopy eyes) and a broad bridge between the eyes, can have problems with kidneys, heart, (ear-)infections and blood platelets. The mental level differs: there are children with mild till severe mental handicaps. This depends probably of length and place of the missing piece of the chromosome. Diagnosis If you or someone else thinks your child may be delayed, it is important to seek an assessment at as young an age as possible. Children with Jacobsen's Syndrome and other developmental delays may benefit from early intervention services, therapies, educational interventions and other support services that may require a diagnosis in order to be eligible for those services.

72. Jacobsen's Syndrome Library I J. jacobsen's syndrome. Synonym 11 q Deletion syndrome. Whereto Go to Chat with Others. jacobsen's syndrome on-line discussion groups. http://www.familyvillage.wisc.edu/lib_jacobsen-syndrome.html

Jacobsen's Syndrome Synonym: 11 q Deletion Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Jacobsen's Syndrome" or "11q Deletion" Who to Contact 11q Research and Resource Group Melanie Shopshear Pace 6123 A. Duncan Road Petersburg, VA 23803 804-828-5383 (fax) E-mail: mspace@vcu.edu Where to Go to Chat with Others Jacobsen's Syndrome on-line discussion groups. Learn More About It What is Jacobsen's (or 11q Deletion") Syndrome? Chromosome 11 Mapping Projects Jacobsen Syndrome information from OMIM Abstract: Two craniosynostotic patients with 11q deletions, and review of 48 cases. Abstract: Jacobson syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11(q23q25) and review of 52 cases. Abstract: Molecular detection of a translocation (Y;11)(q11.2;q24) in a 45,X male with signs of Jacobsen syndrome Web Sites 11q Research and Resource Group Home Page Europees chromosoom 11q netwerk - Neatherlands The Fragile (Web) Site - 11 q Deletion Information - United Kingdom Back to [ I - J Family Village Home Library Coffee Shop ... Information Last Updated April 7, 1999 by

73. Jacobsen's Syndrome jacobsen's syndrome OnLine Discussion Groups. Web Boards. 11q WebBoard. If you know of an on-line discussion group that should be http://www.familyvillage.wisc.edu/lists/jacobsen.html

Jacobsen's Syndrome On-Line Discussion Groups Web Boards 11q Web Board If you know of an on-line discussion group that should be added to the list, please send a note to Linda Rowley at: rowley@waisman.wisc.edu Last updated 18-Feb-1997 by rowley@waisman.wisc.edu.

74. Jacobsen's Syndrome jacobsen's syndrome. jacobsen's syndrome Who to Contact Where to Go to Chatwith Others Learn More About It . The DRM WebWatcher jacobsen's syndrome. http://www.ability.org.uk/Jacobsen's_Syndrome.html

Our Aims Services Stats ... Z Jacobsen's Syndrome Jacobsen's Syndrome - Who to Contact Where to Go to Chat with Others Learn More About It . The DRM WebWatcher: Jacobsen's Syndrome OMIM Entries for Jacobsen syndrome -Brief description of Jacobsen syndrome and research to date, and the clinical synopsis. HIM-L Archives: RE: Jacobson's Syndrome Debra Biasca's - Helpful links to the fascinating worlds of Yiddish, Linguistics, News around the world, Language and Gender, Child Language Research (normal and abnormal language acquisition) and the exciting new research being done on the 11th chromosome in genera Jenny's Page - This Jenny Jacobsen's Page Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

75. J1 Back Home Next. J. jacobsen's syndrome. Jack Daniels. Japanese Tea Ceremony.Java World Chat Link. javacolour.html. Javascript. Jehovah's Witnesses. http://www.ability.org.uk/j1.html

Our Aims Services Stats ... Z J Jacobsen's Syndrome Jack Daniels Japanese Tea Ceremony Java World Chat Link ... Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

76. Community Connections > Disabilities > On-line Resources > Web Sites > Jacobsen' Disabilities HomeWeb Sites jacobsen's syndrome. DisabilityResources.org (jacobsen'ssyndrome) http//www.disabilityresources.org/jacobsen.html. http://www.arcofkingcounty.org/guide/disabilities/online/sites/jacobsens/

A Resource Guide for Children and Adults With Developmental Disabilities Community Connections Home Disabilities On-line Resources Web Sites Web Sites Jacobsen's Syndrome (under construction) DisabilityResources.org (Jacobsen's Syndrome) http://www.disabilityresources.org/JACOBSEN.html DISABILITIES About Organizations Publications On-line Resources COMMUNITY CONNECTIONS: Home Site Map Mailing List Community Connections Web Community Connections is a service of The Arc of King County For more information, call (206) 364-1613 ext. 141 E-mail: connections@arcofkingcounty.org Links to external sites do not constitute endorsements by The Arc of King County. By visiting this and other Arc of King County web pages, you expressly agree to be bound by terms and conditions of the site, which can be viewed at This page last updated: Tuesday, December 10, 2002 var site="sm2arckingcounty"

77. Online And Offline Support: J jacobsen's syndrome (11q). Please note Children, teens, and adults with jacobsen'ssyndrome have facial anomalies that do not require reconstructive surgery. http://www.widesmiles.org/support/j.html

J Jacobsen's Syndrome (11q-) Please note: Children, teens, and adults with Jacobsen's Syndrome have facial anomalies that do not require reconstructive surgery. Chromosome 11q Network (Europe) People served: Parents of children with 11q- Services provided: Support and information Contact person: Annet van Betuw Email address: avbetuw@wxs.nl Website: http://www.11q.net 11q Research and Resource Group (United States) People served: Parents of children with Jacobsen's Syndrome Services provided: Support, information, research, online resources, and chatroom Contact person: Debra Halperin Biasca Email address: biasca@colorado.edu Website: http://ucsu.colorado.edu/~biasca/11q.html Joubert Syndrome Joubert Syndrome Parents-in-Touch Network Please note: Cleft palate can occur with Joubert Syndrome. People served: Parents of children with Joubert Syndrome Services provided: Information and referral, support, networking list, newsletter, and conference Email address: joubert@erols.com Website: http://www.erols.com/joubert/ Back to Wide Smiles' Online and Offline Support and Information Page

78. Jacobsen's (or 11q Deletion) Syndrome? jacobsen's syndrome (11q Deletion, or 11q) is a rare chromosomal abnormalitywhich affects perhaps one child in 100,000 in which a portion of the 11th http://home.earthlink.net/~heinabilene/karyotypes/del11q.htm

What is Jacobsen's (or 11q Deletion") Syndrome? Jacobsen's Syndrome (11q Deletion, or 11q-) is a rare chromosomal abnormality which affects perhaps one child in 100,000 in which a portion of the 11th chromosome is missing. It was discovered by Dr. P. Jacobsen in 1973. At that time, the disease was named "Jacobsen's Syndrome." Children who have the disease may have some of a number of symptoms, including heart problems, speech and language problems, specific facial characteristics and mild to severe mental retardation. Many of the children are high functioning in spite of the challenges posed by the structural abnormality of their chromosomes. Environmental factors cause 7 to 10 percent of congenital anomalies and are throught to be the main cause of structural abnormalities. Although the specific location of the chromosome deletion which 'qualifies' as Jacobsen's varies among the research articles which have been published, a parent group has been formed to provide support and organizational efforts for parents of all children with 11th chromosome abnormalities, including

79. Genetic Counselor's Toolbox Reference for the clinical geneticist.Category Health Reproductive Health Prenatal Testing...... Deletion 5q syndrome SourceOMIM; Deletion 11q (jacobsen) syndrome SourceOMIM;Deletion 13q syndrome SourceMCA/MR syndromes Database; http://www.perinatology.com/genetics/tools.htm

perinatology.com Genetic Counselor's Toolbox Search Translate Site Map Agencies and Organizations Calculators Critical Care Exposures Chemicals Drugs Infection Physical Agent ... About us EVALUATION OF RISK Recessive Disease Frequency Recurrence Risk for Common Multifactorial Conditions. Midtrimester Risk for Chromosome ... Paternal Age ExAFP Screening Maternal Serum Testing, General Dating Rules Interpretation of Results DELETION AND DUPLICATION DISORDERS Deletion 5q Syndrome Source: OMIM Deletion 11q (Jacobsen) Syndrome Source: OMIM Deletion 13q Syndrome Source: MCA/MR Syndromes Database Deletion 18q Syndrome Source: OMIM Cytogenetic Aberrations Source: UK Human Genome Mapping Project Resource Centre Trinucleotide Repeats Dynamic Mutations and Repetitive DNA Source:University College London Biomedicine Fragile X Syndrome: Diagnostic and Carrier Testing Source:American College of Medical Genetics DISORDERS OF THE SEX CHROMOSOMES Turner (XO) Syndrome Source:PEDBASE XXX Syndrome Source:PEDBASE XXXX Syndrome Source:PEDBASE XXXXX Syndrome Source:PEDBASE Klinefelter ( XXY) Syndrome Source:NICHD XYY Syndrome SOURCE:The Turner Center DISORDERS OF THE MITOCHONDRIA Differential Diagnosis Source:Washington University DYSMORPHOLOGY Basic Dysmorphology Source: The University of Iowa Dysmorphic Syndrome Features Clinical Genetics and Fetal Medicine Unit of the Institute of Child Health Image Catalog MULTIFACTORIAL DISORDERS

80. Morten Jacobsen Has Worked With Films For 40 Years Starting As A Camera Operator Evaluation of a Private Film Collection for the Vinegar syndrome with Present and New Techniques. by Morten jacobsen Denmark. 35 http://www.geocities.com/hollywood/Academy/9772/whatsnew/vinegar.htm

Evaluation of a Private Film Collection for the "Vinegar Syndrome" with Present and New Techniques by Morten Jacobsen Denmark 35 years is a long time for a human being. It is about half his life. Starting out at 22 making films as an amateur and idealist shooting films with friends and foe, going to festivals and sometimes winning that is fun. Turn it into a professional career and you begin to stack your tins. You continue to do that and it become part of your life that follows you as your luggage does when travelling. You tend to forget you have a collection because a lot of what you have done has already become history a few moments after it was screened for the first time and then forgotten. Film as luggage is fragile and conditions of storage less than ideal. They are still in the same tin and sometime the tin is rusty outside, sometimes inside and you never have the guts or time to open the tins. Then one day you pull yourself together and begin to open tins. You could say you were forced to do so because it is part of your next 35 years, and trust me 35 years is the onset point for the vinegar syndrome. As my life slid towards new opportunities in the seventies, the trend was to serve film libraries with film spools and cans; in the eighties, with the introduction of video distribution, I moved on to film storage; and the nineties towards preservation and observation of the problems that started more than 35 years ago. It seemed a unique opportunity to take your collection apart and see what the state of the art was.

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