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]