BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

224 related articles for article (PubMed ID: 23337016)

  • 21. 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]  

  • 22. Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants.
    Liu Y; Li D; Ding Y; Kang L; Jin Y; Song J; Li H; Yang Y
    Eur J Med Genet; 2019 Sep; 62(9):103542. PubMed ID: 30266686
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil.
    Gomes KB; Fernandes AP; Ferreira AC; Pardini H; Garg A; Magré J; Pardini VC
    J Clin Endocrinol Metab; 2004 Jan; 89(1):357-61. PubMed ID: 14715872
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Description of an AGPAT2 pathologic allelic variant in a 54-year-old Caucasian woman with Berardinelli-Seip syndrome.
    Pelosini C; Martinelli S; Bagattini B; Pucci E; Fierabracci P; Scartabelli G; Salvetti G; Vitti P; Maffei M; Pinchera A; Santini F
    Acta Diabetol; 2011 Sep; 48(3):243-6. PubMed ID: 21744063
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Bone Density in Patients With Berardinelli-Seip Congenital Lipodystrophy Is Higher in Trabecular Sites and in Type 2 Patients.
    Lima JG; Nobrega LHC; Lima NN; Dos Santos MCF; Baracho MFP; Bandeira F; Capistrano L; Freire Neto FP; Jeronimo SMB
    J Clin Densitom; 2018; 21(1):61-67. PubMed ID: 27894728
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome.
    Dyment DA; Gibson WT; Huang L; Bassyouni H; Hegele RA; Innes AM
    Eur J Med Genet; 2014 Sep; 57(9):524-6. PubMed ID: 24980513
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy.
    Craveiro Sarmento AS; Ferreira LC; Lima JG; de Azevedo Medeiros LB; Barbosa Cunha PT; Agnez-Lima LF; Galvão Ururahy MA; de Melo Campos JTA
    Mutat Res Rev Mutat Res; 2019; 781():30-52. PubMed ID: 31416577
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Berardinelli Seip Congenital Lipodystrophy Syndrome: 10 Year Follow-up.
    Joshi R; Sharma S
    Indian Pediatr; 2019 Oct; 56(10):877-878. PubMed ID: 31724546
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Case report: Dental management of Berardinelli-Seip congenital lipodystrophy.
    Bhujel N; Clark H
    Eur Arch Paediatr Dent; 2016 Apr; 17(2):137-40. PubMed ID: 26573975
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Talon cusps, macrodontia, and aberrant tooth morphology in Berardinelli-Seip syndrome.
    Solanki M; Patil SS; Baweja DK; Noorani H; Pk S
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2008 Jan; 105(1):e41-7. PubMed ID: 18155601
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Berardinelli-Seip syndrome in peritoneal dialysis.
    Bande-Fernández JJ; García-Castro R; Sánchez-Alvarez JE; Rodríguez-Suárez C; Coronel-Aguilar D; Hidalgo C; Istanbuli B; Merino-Bueno C; Del Rio-García L
    Nefrologia; 2015; 35(5):493-6. PubMed ID: 26391816
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Genetic basis of congenital generalized lipodystrophy.
    Agarwal AK; Barnes RI; Garg A
    Int J Obes Relat Metab Disord; 2004 Feb; 28(2):336-9. PubMed ID: 14557833
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Prevalence of mutations in AGPAT2 among human lipodystrophies.
    Magré J; Delépine M; Van Maldergem L; Robert JJ; Maassen JA; Meier M; Panz VR; Kim CA; Tubiana-Rufi N; Czernichow P; Seemanova E; Buchanan CR; Lacombe D; Vigouroux C; Lascols O; Kahn CR; Capeau J; Lathrop M
    Diabetes; 2003 Jun; 52(6):1573-8. PubMed ID: 12765973
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil.
    Gomes KB; Pardini VC; Ferreira AC; Fonseca CG; Fernandes AP
    Ann Hum Genet; 2007 Nov; 71(Pt 6):729-34. PubMed ID: 17535271
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Conversations between insulin and bone: Potential mechanism of high bone density in patients with Berardinelli-Seip Congenital Lipodystrophy.
    Lima JG; Lima NN; Nobrega LH; Jeronimo SM
    Med Hypotheses; 2016 Dec; 97():94-97. PubMed ID: 27876139
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. a clinical, genetic and in silico study.
    Cortés VA; Smalley SV; Goldenberg D; Lagos CF; Hodgson MI; Santos JL
    PLoS One; 2014; 9(1):e87173. PubMed ID: 24498038
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 12.