Literature DB >> 17893350

Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation.

Robert A Hegele, Salam A Al-Attar, Brian K Rutt.   

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Year:  2007        PMID： 17893350      PMCID： PMC1976659          DOI： 10.1503/cmaj.070135

Source DB:  PubMed          Journal:  CMAJ        ISSN： 0820-3946            Impact factor:   8.262


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  7 in total

1.  Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

Authors:  H Cao; R A Hegele
Journal:  Hum Mol Genet       Date:  2000-01-01       Impact factor: 6.150

Review 2.  Obesity-related cardiovascular disease: implications of obstructive sleep apnea.

Authors:  R Wolk; V K Somers
Journal:  Diabetes Obes Metab       Date:  2006-05       Impact factor: 6.577

3.  Obstructive sleep apnoea among HIV patients.

Authors:  V Lo Re; S Schutte-Rodin; J R Kostman
Journal:  Int J STD AIDS       Date:  2006-09       Impact factor: 1.359

4.  Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study.

Authors:  M Dematteis; J L Pépin; M Jeanmart; C Deschaux; A Labarre-Vila; P Lévy
Journal:  Lancet       Date:  2001-01-27       Impact factor: 79.321

Review 5.  Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome.

Authors:  Robert A Hegele
Journal:  Trends Endocrinol Metab       Date:  2003-10       Impact factor: 12.015

6.  The genetics of sleep apnea.

Authors:  Susan Redline; Peter V. Tishler
Journal:  Sleep Med Rev       Date:  2000-12       Impact factor: 11.609

7.  Semi-automated segmentation and quantification of adipose tissue in calf and thigh by MRI: a preliminary study in patients with monogenic metabolic syndrome.

Authors:  Salam A Al-Attar; Rebecca L Pollex; John F Robinson; Brooke A Miskie; Rhonda Walcarius; Brian K Rutt; Robert A Hegele
Journal:  BMC Med Imaging       Date:  2006-08-31       Impact factor: 1.930
  7 in total
  6 in total

Review 1.  Genetics of metabolic syndrome: is there a role for phenomics?

Authors:  Tisha Joy; Robert A Hegele
Journal:  Curr Atheroscler Rep       Date:  2008-06       Impact factor: 5.113

2.  Obstructive sleep apnea in familial partial lipodystrophy type 2 with atypical skin findings and vascular disease.

Authors:  Kumar Patel; Debra Roseman; Heather Burbank; Hrayr Attarian
Journal:  Sleep Breath       Date:  2009-05-06       Impact factor: 2.816

3.  Sleep Apnea and Skin.

Authors:  Vinaya Soundararajan; Jennifer Lor; Anna B Fishbein
Journal:  Curr Sleep Med Rep       Date:  2020-08-25

4.  Evaluation of epicardial adipose tissue in familial partial lipodystrophy.

Authors:  Amélio Fernando Godoy-Matos; Cynthia M Valério; Juliana Bonadiman E Bragança; Ricardo de Andrade Oliveira; Roberto Luis Zagury; Rodolfo de Paula Lustosa; Gabriel Cordeiro Camargo; César Augusto da Silva Nascimento; Rodrigo O Moreira
Journal:  Diabetol Metab Syndr       Date:  2015-04-01       Impact factor: 3.320

5.  Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.

Authors:  Antonio Atalaia; Rabah Ben Yaou; Karim Wahbi; Annachiara De Sandre-Giovannoli; Corinne Vigouroux; Gisèle Bonne
Journal:  J Neuromuscul Dis       Date:  2021

6.  Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

Authors:  H Mosbah; B Donadille; M C Vantyghem; C Vigouroux; C Vatier; S Janmaat; M Atlan; C Badens; P Barat; S Béliard; J Beltrand; R Ben Yaou; E Bismuth; F Boccara; B Cariou; M Chaouat; G Charriot; S Christin-Maitre; M De Kerdanet; B Delemer; E Disse; N Dubois; B Eymard; B Fève; O Lascols; P Mathurin; E Nobécourt; A Poujol-Robert; G Prevost; P Richard; J Sellam; I Tauveron; D Treboz; B Vergès; V Vermot-Desroches; K Wahbi; I Jéru
Journal:  Orphanet J Rare Dis       Date:  2022-04-19       Impact factor: 4.303
  6 in total

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