These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

128 related articles for article (PubMed ID: 38908974)

  • 1. High carrier frequency for abetalipoproteinemia and evidence of a founder variant in a French-Canadian population.
    Guay SP; Paquette M; Girard L; Desgagné V; Gosse G; Poulin V; Bouchard L; Baass A
    J Clin Lipidol; 2024; 18(4):e625-e630. PubMed ID: 38908974
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Portrait of autosomal recessive diseases in the French-Canadian founder population of Saguenay-Lac-Saint-Jean.
    Cruz Marino T; Leblanc J; Pratte A; Tardif J; Thomas MJ; Fortin CA; Girard L; Bouchard L
    Am J Med Genet A; 2023 May; 191(5):1145-1163. PubMed ID: 36786328
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians.
    Berthier MT; Couture P; Houde A; Paradis AM; Sammak A; Verner A; Deprés JP; Gagné C; Gaudet D; Vohl MC
    Mol Genet Metab; 2004 Feb; 81(2):140-3. PubMed ID: 14741197
    [TBL] [Abstract][Full Text] [Related]  

  • 4. French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED.
    Cruz Marino T; Villeneuve H; Leblanc J; Duranceau C; Caron P; Morin C; Milot M; Chrétien R; Gagnon MM; Mathieu J; Ellezam B; Buhas D
    Endocrine; 2022 Jan; 75(1):48-58. PubMed ID: 34846681
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Abetalipoproteinemia Due to a Novel Splicing Variant in
    Vlasschaert C; McIntyre AD; Thomson LA; Kennedy BA; Ratko S; Prasad C; Hegele RA
    J Investig Med High Impact Case Rep; 2021; 9():23247096211022484. PubMed ID: 34078172
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Current Diagnosis and Management of Abetalipoproteinemia.
    Takahashi M; Okazaki H; Ohashi K; Ogura M; Ishibashi S; Okazaki S; Hirayama S; Hori M; Matsuki K; Yokoyama S; Harada-Shiba M
    J Atheroscler Thromb; 2021 Oct; 28(10):1009-1019. PubMed ID: 33994405
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the MTTP Gene without Fat or Vitamin Malabsorption.
    Sasaki K; Tada H; Komatsu T; Terada H; Endo Y; Ikewaki K; Uehara Y
    J Atheroscler Thromb; 2024 May; ():. PubMed ID: 38749717
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia.
    Di Filippo M; Collardeau Frachon S; Janin A; Rajan S; Marmontel O; Decourt C; Rubio A; Nony S; Dumont S; Cuerq C; Charrière S; Moulin P; Lachaux A; Hussain MM; Bozon D; Peretti N
    Atherosclerosis; 2019 May; 284():75-82. PubMed ID: 30875496
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.
    Lee J; Hegele RA
    J Inherit Metab Dis; 2014 May; 37(3):333-9. PubMed ID: 24288038
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia.
    Paquette M; Dufour R; Hegele RA; Baass A
    J Clin Lipidol; 2016; 10(4):1030-1034. PubMed ID: 27578136
    [TBL] [Abstract][Full Text] [Related]  

  • 11. First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean's founder population.
    Cruz Marino T; Tardif J; Leblanc J; Lavoie J; Morin P; Harvey M; Thomas MJ; Pratte A; Braverman N
    Hum Genet; 2022 Apr; 141(3-4):607-622. PubMed ID: 34387732
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Forty year follow-up of three patients with complete absence of apolipoprotein B-containing lipoproteins.
    Le R; Zhao L; Hegele RA
    J Clin Lipidol; 2022; 16(2):155-159. PubMed ID: 35221233
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.
    Wang J; Hegele RA
    Hum Mutat; 2000 Mar; 15(3):294-5. PubMed ID: 10679949
    [TBL] [Abstract][Full Text] [Related]  

  • 14. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
    Oláhová M; Hardy SA; Hall J; Yarham JW; Haack TB; Wilson WC; Alston CL; He L; Aznauryan E; Brown RM; Brown GK; Morris AA; Mundy H; Broomfield A; Barbosa IA; Simpson MA; Deshpande C; Moeslinger D; Koch J; Stettner GM; Bonnen PE; Prokisch H; Lightowlers RN; McFarland R; Chrzanowska-Lightowlers ZM; Taylor RW
    Brain; 2015 Dec; 138(Pt 12):3503-19. PubMed ID: 26510951
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Distribution of CFTR mutations in Saguenay- Lac-Saint-Jean: proposal of a panel of mutations for population screening.
    Madore AM; Prévost C; Dorfman R; Taylor C; Durie P; Zielenski J; Laprise C
    Genet Med; 2008 Mar; 10(3):201-6. PubMed ID: 18344710
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
    Di Filippo M; Créhalet H; Samson-Bouma ME; Bonnet V; Aggerbeck LP; Rabès JP; Gottrand F; Luc G; Bozon D; Sassolas A
    J Lipid Res; 2012 Mar; 53(3):548-555. PubMed ID: 22236406
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene.
    Najah M; Youssef SM; Yahia HM; Afef S; Awatef J; Saber H; Fadhel NM; Sassolas A; Naceur SM
    Diagn Pathol; 2013 Apr; 8():54. PubMed ID: 23556456
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families.
    Di Filippo M; Varret M; Boehm V; Rabès JP; Ferkdadji L; Abramowitz L; Dumont S; Lenaerts C; Boileau C; Joly F; Schmitz J; Samson-Bouma ME; Bonnefont-Rousselot D
    J Clin Lipidol; 2019; 13(1):201-212. PubMed ID: 30522860
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis.
    Rozen R; De Braekeleer M; Daigneault J; Ferreira-Rajabi L; Gerdes M; Lamoureux L; Aubin G; Simard F; Fujiwara TM; Morgan K
    Am J Med Genet; 1992 Feb; 42(3):360-4. PubMed ID: 1536179
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.