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Results 1 - 10 of 18 for Santos syndrome
  1. Trichorhinophalangeal syndrome type I 
    ... PubMed Central Dias C, Isidoro L, Santos M, Santos H, Marques JS. Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and ...
    https://medlineplus.gov/.../trichorhinophalangeal-syndrome-type-i - Genetics
  2. Simpson-Golabi-Behmel syndrome 
    ... PubMed Tenorio J, Arias P, Martinez-Glez V, Santos F, Garcia-Minaur S, Nevado J, Lapunzina P. Simpson-Golabi-Behmel syndrome types I and II. Orphanet J Rare Dis. ...
    https://medlineplus.gov/.../condition/simpson-golabi-behmel-syndrome - Genetics
  3. Smith-Kingsmore syndrome 
    ... for Rare Disorders (NORD) ClinicalTrials.gov SMITH-KINGSMORE SYNDROME; SKS PubMed Gordo G, Tenorio J, Arias P, Santos-Simarro F, Garcia-Minaur S, Moreno JC, Nevado ...
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics
  4. Baller-Gerold syndrome 
    ... 1979.02130120071014. No abstract available. Citation on PubMed Santos de Oliveira R, Lajeunie E, Arnaud E, Renier D. Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature. Childs ...
    https://medlineplus.gov/genetics/condition/baller-gerold-syndrome - Genetics
  5. Trichorhinophalangeal syndrome type II 
    ... M, Baumer A, Superti-Furga A, Moreira LM, Santo LD, Schiper PP, Carvalho JH, Giedion A. Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications. Am J Med Genet ...
    https://medlineplus.gov/.../trichorhinophalangeal-syndrome-type-ii - Genetics
  6. CYLD cutaneous syndrome 
    ... 11. Citation on PubMed Arruda AP, Cardoso-Dos-Santos AC, Mariath LM, Feira MF, Kowalski TW, Bezerra KRF, da Silva LACT, Ribeiro EM, Schuler-Faccini L. A large family with CYLD cutaneous syndrome: medical genetics at the community level. J Community ...
    https://medlineplus.gov/genetics/condition/cyld-cutaneous-syndrome - Genetics
  7. Björnstad syndrome 
    ... McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE. Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome. N Engl J Med. 2007 Feb 22;356( ...
    https://medlineplus.gov/genetics/condition/bjornstad-syndrome - Genetics
  8. Shwachman-Diamond syndrome 
    ... Menne TF, Gonzalez Fernandez A, Simpson P, D'Santos CS, Arends MJ, Donadieu J, Bellanne-Chantelot C, Costanzo M, Boone C, McKenzie AN, Freund SM, Warren AJ. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev. 2011 May 1;25(9):917- ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
  9. Autosomal dominant hyper-IgE syndrome 
    ... Leruez-Ville M, Picard C, Meyts I, Di Santo JP, Hovnanian A, Somer A, Ozen A, Rezaei N, Chatila TA, Abel L, Leonard WJ, Tangye SG, Puel A, Casanova JL. A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and ...
    https://medlineplus.gov/.../autosomal-dominant-hyper-ige-syndrome - Genetics
  10. FG syndrome 
    ... on PubMed Central Jehee FS, Rosenberg C, Krepischi-Santos AC, Kok ... defines a new locus (FGS5) for FG syndrome. Am J Med Genet A. 2005 Dec 15; ...
    https://medlineplus.gov/genetics/condition/fg-syndrome - Genetics
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