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Results 1 - 10 of 402 for cm
  1. Capillary malformation-arteriovenous malformation syndrome 
    Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system ...
    https://medlineplus.gov/...ation-arteriovenous-malformation-syndrome - Genetics
  2. Megalencephaly-capillary malformation syndrome 
    ... a genetic mutation is known as mosaicism. M-CM Macrocephaly cutis marmorata telangiectatica congenita Macrocephaly-capillary malformation ... TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, ...
    https://medlineplus.gov/...encephaly-capillary-malformation-syndrome - Genetics
  3. CHD7 gene 
    ... A, Bocca G, Hoefsloot LH, van Ravenswaaij-Arts CM. The results of CHD7 analysis in clinically well- ... LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. CHD7 mutations and CHARGE syndrome: the clinical implications ...
    https://medlineplus.gov/genetics/gene/chd7 - Genetics
  4. TG gene 
    ... Free article on PubMed Central Caron P, Moya CM, Malet D, Gutnisky VJ, Chabardes B, Rivolta CM, Targovnik HM. Compound heterozygous mutations in the thyroglobulin ...
    https://medlineplus.gov/genetics/gene/tg - Genetics
  5. Nearsightedness 
    ... Leeuwen EM, Wilson JF, Pennell CE, van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen ... Klein BE, Klein R, Wong TY, van Duijn CM, Mitchell P, Saw SM, Fossarello M, Wang JJ; ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  6. Congenital central hypoventilation syndrome 
    ... on PubMed Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B ... Abara SG, Zhou L, Berry-Kravis EM, Rand CM, Weese-Mayer DE. Later-onset congenital central hypoventilation ...
    https://medlineplus.gov/...ngenital-central-hypoventilation-syndrome - Genetics
  7. RASA1 gene 
    ... found to cause capillary malformation-arteriovenous malformation syndrome (CM-AVM), which is a condition characterized by abnormalities ... vascular system. Most of the mutations responsible for CM-AVM prevent the production of functional p120-RasGAP ...
    https://medlineplus.gov/genetics/gene/rasa1 - Genetics
  8. BAP1 tumor predisposition syndrome 
    ... de Pauw A, Gesta P, Bonadona V, Maugard CM, Penet C, Avril MF, Barillot E, Cabaret O, ... JB, Singh A, Marino MJ, Davidorf FH, Cebulla CM, H Abdel-Rahman M. Germline BAP1 alterations in ...
    https://medlineplus.gov/.../bap1-tumor-predisposition-syndrome - Genetics
  9. TIMM8A gene 
    ... ND, Lodahl M, Ng K, Rowe DB, Sue CM, Hayes MW, Tranebjaerg L, Fung VS. The phenotypic ... PubMed Roesch K, Curran SP, Tranebjaerg L, Koehler CM. Human deafness dystonia syndrome is caused by a ...
    https://medlineplus.gov/genetics/gene/timm8a - Genetics
  10. Type 2 diabetes 
    ... J, Liju S, Lim WY, Lind L, Lindgren CM, Lindholm E, Liu CT, Liu JJ, Lobbens S, ... JF, Highland HM, Dupuis J, Chines PS, Lindgren CM, Hartl C, Jackson AU, Chen H, Huyghe JR, ...
    https://medlineplus.gov/genetics/condition/type-2-diabetes - Genetics
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