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  Home > Diseases > Pediatric
 Medisurf category dbsearch found 243 sites and 19 categories below Pediatric category
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Abnormalities, Medical and Scientific Information Online
Anormalidades del Sistema Nervioso Central
Aicardi Syndrome, Contact a Family
Aicardi Syndrome/ Inheritance patterns, Pre-natal diagnosis, Psychological and Behavioural Characteristics
Alexander Graham Bell Association of the Deaf and Hard of Hearing(AG Bell)
AG Bell is an international membership organization comprised of parents of children who are deaf and hard of hearing, adults with hearing loss, and professionals who serve children with hearing loss / It provide the largest information about pediatirc hearing loss / General society and staffs information available /job information available
Amish Brittle Hair Syndrome, Jablonski's Syndromes Database
Amish Brittle Hair Syndrome
Amniotic Band Syndrome, Wide Smiles
Amniotic Banding/ Amniotic Band Information, Personal family stories, Links
Anencephaly Infants, American Academy of Pediatrics
Infants with Anencephaly as Organ Sources: Ethical Considerations (RE9253)/ Pediatrics Volume 89, Number 6 June Part 1, 1992, p.1116-1119, BACKGROUND, POTENTIAL APPROACHES TO OBTAINING ORGANS, ETHICAL AND LEGAL ISSUES
Anencephaly, Anencephaly Support Foundation
Anencephaly Support Foundation
Anencephaly, Canadian Paediatric Society
Transplantation of organs from newborns with anencephaly/ Organ transplantation in newborns, Organ donation from anencephalic newborns, Competing resources
Anencephaly, WebPath
Anencephaly [Picture]
Anencephaly, YahooGroups
Angelman Syndrome, Angelman Syndrome
Angelman Syndrome
Angelman Syndrome, Angelman Syndrome Information for Families & Professionals
Angelman Syndrome Information for Families & Professionals
Angelman Syndrome, Cytogenetics at UW Waisman Ctr.
CASE of the MONTH December 97/ View the Karyotype
Angelman Syndrome, GeneClinics
Angelman Syndrome/ Summary: Disease characteristics. Angelman syndrome (AS) is characterized by: 1) severe developmental delay or mental retardation; 2) severe speech impairment; 3) gait ataxia and/or tremulousness of the limbs; and 4) a unique behavior with an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. In addition, microcephaly and seizures are common. Laboratory testing/diagnosis. Consensus clinical diagnostic criteria for AS have been developed, but the mainstay of diagnosis testing is: 1) analysis of parent-specific DNA methylation imprints in the 15q11-q13 chromosome region, which detects ~78% of patients with AS, including those with a deletion, uniparental disomy, or imprinting defect; and 2) mutation analysis of the UBE3A gene, which detects an additional ~11% of patients. Less than 1% of patients have a cytogenetically visible chromosome rearrangement. The remaining ~11% patients with classic phenotypic features of AS have a presently unidentified genetic mechanism and thus are not amenable to diagnostic testing. Genetic counseling. AS is caused by the loss of maternally imprinted contribution(s) in the 15q11-q13 (AS/PWS) region that can occur by at least five different known genetic mechanisms. The risk to sibs of an affected child of having AS depends upon the genetic mechanism of the loss of the maternally contributed AS/PWS region. The risk to sibs of an affected child who has a deletion or uniparental disomy is typically <1%. The risk is as high as 50% to the sibs of a child with an imprinting defect or a mutation of the UBE3A gene. Members of the mother's extended family also are at increased risk when an imprinting defect or a UBE3A mutation is present. Cytogenetically visible chromosome rearrangements may be inherited or de novo. Prenatal testing is possible when the underlying genetic mechanism is deletion, uniparental disomy, imprinting defect, UBE3A mutation, or chrosmosome rearrangement.
Angelman Syndrome, Health Connection
Angelman Syndrome / About angelman syndrome. Medical And Developmental Problems
Bannayan-Zonana Syndrome, Indiana University
Bannayan-Zonana Syndrome: An update of the literature (1997)
Bannayan-Zonana Syndrome, OMIM
Basal Cell Nevus Syndrome, OMIM
Batten Disease and Neuronal Ceroid Lipofuscinoses, NINDS
Batten Disease & Neuronal Ceroid Lipofuscinoses (NCLs) / About batten disease and neuronal ceroid lipofuscinoses. What Are The Other Forms Of Neuronal Ceroid Lipofuscinoses (NCLs)?, How Many People Have These Disorders?, How Are Neuronal Ceroid Lipofuscinoses (NCLs) Inherited?, What Causes These Diseases?, How Are These Disorders Diagnosed?, Is There Any Treatment?, What Research Is Being Done?, Where Can I Find More Information?
Batten Disease, BDSRA
BDSRA (Batten Disease Support & Research Association)
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