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103 results
  1. Apert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK541728
    ... Apert Syndrome National Library of Medicine Genetics Home Reference Apert syndrome Molecular Genetics Information in the Molecular Genetics and ... may contain more recent information. — ED. Table A. Apert Syndrome: Genes and ... from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. Apert syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/apert-syndrome
    ... gov Catalog of Genes and Diseases from OMIM APERT SYNDROME Scientific Articles on PubMed PubMed References Anderson PJ, Hall CM, Evans RD, Hayward RD, ...
  3. NLM Digital Collections - The pituitary-adrenocortical function : ACTH, cortisone and related compounds; a bibliography 
    Publication: Washington D. C. : Army Medical Library, 1950
    resource.nlm.nih.gov/59910400R
    ... type, clearly at variance with the well-known syndromes of Cushing and Apert. " 7 references. 331. Luft, R. A study on hirsutism, Cushing's syndrome and precocious puberty. Acta med. scand., 1944, Suppl. ...
  4. NLM Digital Collections - Index-catalogue of the Library of the Surgeon General's Office, United States Army (Series 4, ... 
    Publication: Washington : U.S. G.P.O., 1936-1948
    resource.nlm.nih.gov/8104688X5
    ... extremities] Askeri sihhiye mecmuasi, 1937, 66: 66-8.—Apert, E. Les ... special reference to the etiology of club-feet, syndactylism, hypodactylism, ...
  5. FGFR2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/fgfr2
    ... and development. Health Conditions Related to Genetic Changes Apert syndrome At least ten mutations in the FGFR2 gene have been found to cause Apert syndrome. This condition causes premature closure of the bones ...
  6. Craniofacial Anomalies | Craniofacial Abnormalities | MedlinePlus 
    https://medlineplus.gov/craniofacialabnormalities.html
    ... Syndrome (For Parents) (Nemours Foundation) Guide to Understanding Apert Syndrome (Children's Craniofacial Association) - PDF Guide to Understanding Pfeiffer ...
  7. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/apert-syndrome</url><title >Apert syndrome</title><other_names ><other_name >Acrocephalosyndactyly</other_name>< ...
  8. Cytochrome P450 Oxidoreductase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1419
    ... include Pfeiffer syndrome, Crouzon syndrome, Jackson-Weiss syndrome, Apert syndrome, and Beare-Stevenson syndrome (see FGFR- Related Craniosynostosis ). ... fusion). FGFR1 and FGFR2 pathogenic variants are causative. Apert syndrome can usually be distinguished from ABS by the ...
  9. Cockayne Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1342
    ... Mucopolysaccharidosis Type I Clarke LA. GeneReviews®. 1993 Review Apert Syndrome [GeneReviews ® . 1993] Review Apert Syndrome Wenger TL, Hing AV, Evans KN. GeneReviews®. 1993 ...
  10. Hypochondroplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1477
    ... shown in achondroplasia [ Wilkin et al 1998 ] and Apert syndrome [ Moloney et al 1996 ]. In some instances, one ... AO. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet. 1996; 13 :48–53. [see comments] [ ...
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