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29 results
  1. Birt-Hogg-Dubé Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1522
    ... 173 :1482–6. [ PubMed : 15821464 ] Pérez García L, Antón Miguel MÁ, Fuentes Gómez CR. Medullary thyroid carcinoma in a patient with Birt-Hogg-Dube syndrome. Med Clin (Barc). 2017; 148 :528–9. [ PubMed : ...
  2. COL5A1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/col5a1
    ... PubMed De Paepe A, Nuytinck L, Hausser I, Anton-Lamprecht I, Naeyaert JM. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. Am J Hum Genet. 1997 ...
  3. Chediak-Higashi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5188
    ... 112 :267–76. [ PubMed : 16791600 ] Sánchez-Guiu I, Antón AI, García-Barberá N, Navarro-Fernández J, Martínez C, Fuster JL, Couselo JM, Ortuño FJ, Vicente V, Rivera J, Lozano ML. Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing ...
  4. SHOX Deficiency Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1215
    ... SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet. 2000; 9 :695–702. [ PubMed : 10749976 ] Dannerberg M, Anton JI, Speigel MB. Madelung's deformity. Consideration of ...
  5. X-Linked Otopalatodigital Spectrum Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1393
    ... Eisenhuth S, McGrath B, Walsh CA, Kreidberg JA, Anton ES. Reelin binds alpha3beta1 integrin and inhibits neuronal migration. Neuron. 2000; 27 :33–44. [ PubMed : 10939329 ] Fitch N, Jequier S, Gorlin R. The oto-palato-digital syndrome, proposed type II. Am J Med Genet. 1983; ...
  6. Blau syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/blau-syndrome
    ... Citation on PubMed Rose CD, Pans S, Casteels I, Anton J, ... J, Wouters CH. Blau syndrome: cross-sectional data from a multicentre study of ...
  7. List of Included and Excluded Studies - Diagnosis of Right Lower Quadrant Pain and Suspected Acute Appendicitis - NCBI .... 
    https://www.ncbi.nlm.nih.gov/books/NBK355436
    ... Macho J, Casas Rojo JM, Cubo Romano P, Antón Santos JM, Villena Garrido V, Diez Lobato R. ... “syndrome” manifested by an appendicolith and thickened appendix presenting ...
  8. WAS-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1178
    ... term outcome in 39 patients with Wiskott-Aldrich syndrome transplanted from HLA-matched and -mismatched donors. Immunol Res. 2009; 44 :18–24. [ PubMed : 18846321 ] Gallego MD, de la Fuente MA, Anton IM, Snapper S, Fuhlbrigge R, Geha RS. WIP ...
  9. Sjögren syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/sjogren-syndrome
    ... Dizon B, Kamdar AA, Goldberg B, Knupp-Oliveira S, Anton J, Mosquera JM, Appenzeller ... Workgroup. Childhood Sjogren syndrome: features of an international ...
  10. Appendices - Fever in under 5s: assessment and initial management - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK552088
    ... Bei; Zhao, Xiaodong (2013) Clinical characteristics of Kawasaki syndrome and the risk factors for coronary artery lesions in China. The Pediatric infectious disease journal 32(10): e397–402 [ PubMed : 23722531 ] Sanchez-Manubens, Judith, Anton, Jordi, Bou, Rosa et al. (2016) Incidence, epidemiology ...
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