BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 25994244)

  • 1. Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?
    van der Pol RJ; Benninga MA; Magré J; Van Maldergem L; Rotteveel J; van der Knaap MS; de Meij TG
    Eur J Pediatr; 2015 Jul; 174(7):975-80. PubMed ID: 25994244
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction.
    Ren M; Shi J; Jia J; Guo Y; Ni X; Shi T
    Orphanet J Rare Dis; 2020 Apr; 15(1):108. PubMed ID: 32349771
    [TBL] [Abstract][Full Text] [Related]  

  • 3. AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome.
    Rostami P; Nakhaeimoghadam M; Bijani FM; Sotoudeh A; Rabbani A; Hilbert P; Rezaei N
    Ann Endocrinol (Paris); 2013 Feb; 74(1):59-61. PubMed ID: 23337016
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Berardinelli Seip Syndrome: A rare case report.
    Ashraf S; Masood S; Naz F; Rashid J
    J Pak Med Assoc; 2022 May; 72(5):969-971. PubMed ID: 35713067
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A case of Berardinelli-Seip syndrome presenting with cirrhosis.
    Wimalaratna H; Nandasiri AS
    J R Coll Physicians Edinb; 2013; 43(4):309-11. PubMed ID: 24350312
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL).
    Gomes KB; Pardini VC; Fernandes AP
    Clin Chim Acta; 2009 Apr; 402(1-2):1-6. PubMed ID: 19167372
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Berardinelli-Seip syndrome: highlight of treatment challenge.
    Ferraria N; Pedrosa C; Amaral D; Lopes L
    BMJ Case Rep; 2013 Jan; 2013():. PubMed ID: 23362058
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A very rare cause of acute pancreatitis: Berardinelli-Seip congenital lipodystrophy.
    İşlek A; Sayar E; Yılmaz A; Duman Ö; Artan R
    Turk J Gastroenterol; 2014 Dec; 25 Suppl 1():216-9. PubMed ID: 25910311
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Berardinelli-Seip congenital lipodystrophy in two siblings.
    Rao TS; Chennamsetty K
    Indian Dermatol Online J; 2014 Nov; 5(Suppl 1):S20-2. PubMed ID: 25506557
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Berardinelli-Seip Congenital Lipodystrophy - A Case Report and Review of Literature.
    Munir A; Haider M; Chachar AZK
    J Coll Physicians Surg Pak; 2022 Jun; 32(6):817-819. PubMed ID: 35686420
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps.
    Agrawala RK; Choudhury AK; Mohanty BK; Baliarsinha AK
    J Pediatr Endocrinol Metab; 2014 Sep; 27(9-10):989-91. PubMed ID: 24825083
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Early course of Berardinelli-Seip congenital lipodystrophy (BSCL).
    Eltermann T; Menendez-Castro C; Kienzle HP; Wössner R; Thomas W
    Klin Padiatr; 2010 Sep; 222(5):308-9. PubMed ID: 20301053
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Berardinelli-Seip Congenital Generalised Lipodystrophy.
    Cheema HA; Malik HS; Waheed N; Mushtaq I; Fayyaz Z; Anjum MN
    J Coll Physicians Surg Pak; 2018 May; 28(5):406-408. PubMed ID: 29690976
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.
    Kim CA; Delépine M; Boutet E; El Mourabit H; Le Lay S; Meier M; Nemani M; Bridel E; Leite CC; Bertola DR; Semple RK; O'Rahilly S; Dugail I; Capeau J; Lathrop M; Magré J
    J Clin Endocrinol Metab; 2008 Apr; 93(4):1129-34. PubMed ID: 18211975
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Dental and periodontal alterations in Berardinelli-Seip syndrome.
    Lima DL; Montenegro Júnior RM; Fernandes VO; Barros AI; Rêgo DM
    J Int Acad Periodontol; 2007 Apr; 9(2):63-7. PubMed ID: 17506386
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.
    Ferranti S; Lo Rizzo C; Renieri A; Galluzzi P; Grosso S
    Neurol Sci; 2020 Nov; 41(11):3345-3348. PubMed ID: 32440981
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.
    Friguls B; Coroleu W; del Alcazar R; Hilbert P; Van Maldergem L; Pintos-Morell G
    Eur J Med Genet; 2009; 52(1):14-6. PubMed ID: 19041432
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel
    Ceccarini G; Magno S; Pelosini C; Ferrari F; Sessa MR; Scabia G; Maffei M; Jéru I; Lascols O; Vigouroux C; Santini F
    Front Endocrinol (Lausanne); 2020; 11():39. PubMed ID: 32117065
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pseudoacromegaly in congenital generalised lipodystrophy (Berardinelli-Seip syndrome).
    Chakraborty PP; Datta S; Mukhopadhyay S; Chowdhury S
    BMJ Case Rep; 2016 Apr; 2016():10.1136/bcr-2016-214493. PubMed ID: 27068725
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Congenital generalized lipodystrophy of Berardinelli-Seip type: a rare case.
    Khandpur S; Kumar A; Khadgawat R
    Indian J Dermatol Venereol Leprol; 2011; 77(3):402. PubMed ID: 21508592
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.