سندرم لیپودیستروفی-پروجروید-شبه مارفان (Persian Wikipedia)

Analysis of information sources in references of the Wikipedia article "سندرم لیپودیستروفی-پروجروید-شبه مارفان" in Persian language version.

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doi.org

  • Passarge E, Robinson PN, Graul-Neumann LM (2016). "Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy". Eur. J. Hum. Genet. 24 (9): 1244–7. doi:10.1038/ejhg.2016.6. PMC 4989216. PMID 26860060.
  • Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E (2010). "Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene". Am. J. Med. Genet. A. 152A (11): 2749–55. doi:10.1002/ajmg.a.33690. PMID 20979188.
  • O'Neill B, Simha V, Kotha V, Garg A (2007). "Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome". Am. J. Med. Genet. A. 143A (13): 1421–30. doi:10.1002/ajmg.a.31840. PMID 17523150.
  • Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, Kornak U, Lebrun F, Lombet J, Piérard GE, Robinson PN, Symoens S, Van Maldergem L, Debray FG (2014). "Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene". Eur J Med Genet. 57 (5): 230–4. doi:10.1016/j.ejmg.2014.02.012. PMID 24613577.
  • Garg A, Xing C (2014). "De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy". Am. J. Med. Genet. A. 164A (5): 1341–5. doi:10.1002/ajmg.a.36449. PMID 24665001.
  • Romere C, Duerrschmid C, Bournat J, Constable P, Jain M, Xia F, Saha PK, Del Solar M, Zhu B, York B, Sarkar P, Rendon DA, Gaber MW, LeMaire SA, Coselli JS, Milewicz DM, Sutton VR, Butte NF, Moore DD, Chopra AR (2016). "Asprosin, a Fasting-Induced Glucogenic Protein Hormone". Cell. 165 (3): 566–79. doi:10.1016/j.cell.2016.02.063. PMC 4852710. PMID 27087445.

nih.gov

pubmed.ncbi.nlm.nih.gov

  • Passarge E, Robinson PN, Graul-Neumann LM (2016). "Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy". Eur. J. Hum. Genet. 24 (9): 1244–7. doi:10.1038/ejhg.2016.6. PMC 4989216. PMID 26860060.
  • Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E (2010). "Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene". Am. J. Med. Genet. A. 152A (11): 2749–55. doi:10.1002/ajmg.a.33690. PMID 20979188.
  • O'Neill B, Simha V, Kotha V, Garg A (2007). "Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome". Am. J. Med. Genet. A. 143A (13): 1421–30. doi:10.1002/ajmg.a.31840. PMID 17523150.
  • Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, Kornak U, Lebrun F, Lombet J, Piérard GE, Robinson PN, Symoens S, Van Maldergem L, Debray FG (2014). "Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene". Eur J Med Genet. 57 (5): 230–4. doi:10.1016/j.ejmg.2014.02.012. PMID 24613577.
  • Garg A, Xing C (2014). "De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy". Am. J. Med. Genet. A. 164A (5): 1341–5. doi:10.1002/ajmg.a.36449. PMID 24665001.
  • Romere C, Duerrschmid C, Bournat J, Constable P, Jain M, Xia F, Saha PK, Del Solar M, Zhu B, York B, Sarkar P, Rendon DA, Gaber MW, LeMaire SA, Coselli JS, Milewicz DM, Sutton VR, Butte NF, Moore DD, Chopra AR (2016). "Asprosin, a Fasting-Induced Glucogenic Protein Hormone". Cell. 165 (3): 566–79. doi:10.1016/j.cell.2016.02.063. PMC 4852710. PMID 27087445.

ncbi.nlm.nih.gov

  • Passarge E, Robinson PN, Graul-Neumann LM (2016). "Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy". Eur. J. Hum. Genet. 24 (9): 1244–7. doi:10.1038/ejhg.2016.6. PMC 4989216. PMID 26860060.
  • Romere C, Duerrschmid C, Bournat J, Constable P, Jain M, Xia F, Saha PK, Del Solar M, Zhu B, York B, Sarkar P, Rendon DA, Gaber MW, LeMaire SA, Coselli JS, Milewicz DM, Sutton VR, Butte NF, Moore DD, Chopra AR (2016). "Asprosin, a Fasting-Induced Glucogenic Protein Hormone". Cell. 165 (3): 566–79. doi:10.1016/j.cell.2016.02.063. PMC 4852710. PMID 27087445.

nytimes.com

  • Kennedy, Pagan (25 Nov 2016). "The Thin Gene". The New York Times. Retrieved 22 May 2017.

telegraph.co.uk

  • "The girl who must eat every 15 minutes to stay alive". The Telegraph. 28 June 2010. Lizzie Velasquez weighs just four stone and has almost zero per cent body fat but she is not anorexic. [...] Despite consuming between 5,000 and 8,000 calories daily, the communications student, has never tipped over 4st 3lbs.

youtube.com