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Literature DB >> 6371233

A computerised data base for the diagnosis of rare dysmorphic syndromes.

Abstract

A system is described for the computerised storage and retrieval of information on rare dysmorphic syndromes. The clinician can ask a microcomputer for a list of syndromes with any logical combination of physical abnormalities. A descriptive title and full references are also provided on request. Similar systems would be applicable to other medical specialties.

Mesh：

Year: 1984 PMID： 6371233 PMCID： PMC1049240 DOI： 10.1136/jmg.21.2.121

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

4 in total

1. A familial syndrome of cranial, facial, oral and limb anomalies.

Authors: N Fitch; S Jequier; A Papageorgiou
Journal: Clin Genet Date: 1976-10 Impact factor: 4.438

2. Center for Birth Defects Information Services.

Authors: M Buyse
Journal: Birth Defects Orig Artic Ser Date: 1980

3. Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.

Authors: A Schinzel; W Schmid
Journal: Am J Med Genet Date: 1980

4. The Greig polysyndactyly craniofacial dysmorphism syndrome: variable expression in a family.

Authors: J P Fryns; G Van Noyen; H Van den Berghe
Journal: Eur J Pediatr Date: 1981-05 Impact factor: 3.183

4 in total

34 in total

1. EL BUSCA and the value of signals in the diagnosis of dysmorphic syndromes: good and bad handles in computer assisted differential diagnosis.

Authors: L J Salgado; J S Lopez-Camelo; E E Castilla
Journal: J Med Genet Date: 1990-07 Impact factor: 6.318

2. A database of genetically determined neurological conditions for clinicians.

Authors: M Baraitser; K Tomiwa; J Wilson; R Winter
Journal: J Neurol Neurosurg Psychiatry Date: 1989-01 Impact factor: 10.154

3. Use of a microcomputer database system in a statewide effort for data collection in medical genetics.

Authors: J A Mitchell; J H Cutts; M Hess
Journal: Proc Annu Symp Comput Appl Med Care Date: 1991

4. Interpretation of amino acid patterns in mammalian species.

Authors: A Briddon; J Seakins; M Hjelm
Journal: Amino Acids Date: 1992-10 Impact factor: 3.520

5. Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.

Authors: J A Hurst; M Markiewicz; D Kumar; E M Brett
Journal: J Med Genet Date: 1988-07 Impact factor: 6.318

A computerised data base for the diagnosis of rare dysmorphic syndromes.

1. A familial syndrome of cranial, facial, oral and limb anomalies.

2. Center for Birth Defects Information Services.

3. Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.

4. The Greig polysyndactyly craniofacial dysmorphism syndrome: variable expression in a family.

1. EL BUSCA and the value of signals in the diagnosis of dysmorphic syndromes: good and bad handles in computer assisted differential diagnosis.

2. A database of genetically determined neurological conditions for clinicians.

3. Use of a microcomputer database system in a statewide effort for data collection in medical genetics.

4. Interpretation of amino acid patterns in mammalian species.

5. Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.

6. A combinatorial method for grouping cases with multiple malformations.

7. Databases for genetic services. Current usages and future directions.

8. The London Dysmorphology Database.

9. Maxillonasal dysplasia (Binder's syndrome)

10. A chromosome supplement to the London Dysmorphology Database.