PubMed

Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci.

Heathcote K, Rajab A, Magré J, Syrris P, Besti M, Patton M, Délépine M, Lathrop M, Capeau J, Jeffery S.

Diabetes. 2002 Apr;51(4):1291-3.PMID: 11916958 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

Magré J, Delépine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J; BSCL Working Group.

Nat Genet. 2001 Aug;28(4):365-70.PMID: 11479539 [PubMed - indexed for MEDLINE]Related articles

Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman.

Rajab A, Heathcote K, Joshi S, Jeffery S, Patton M.

Am J Med Genet. 2002 Jul 1;110(3):219-25.PMID: 12116229 [PubMed - indexed for MEDLINE]Related articles

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.

Agarwal AK, Simha V, Oral EA, Moran SA, Gorden P, O'Rahilly S, Zaidi Z, Gurakan F, Arslanian SA, Klar A, Ricker A, White NH, Bindl L, Herbst K, Kennel K, Patel SB, Al-Gazali L, Garg A.

J Clin Endocrinol Metab. 2003 Oct;88(10):4840-7.PMID: 14557463 [PubMed - indexed for MEDLINE]Related articlesFree article

A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.

Garg A, Wilson R, Barnes R, Arioglu E, Zaidi Z, Gurakan F, Kocak N, O'Rahilly S, Taylor SI, Patel SB, Bowcock AM.

J Clin Endocrinol Metab. 1999 Sep;84(9):3390-4.PMID: 10487716 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetic basis of congenital generalized lipodystrophy.

Agarwal AK, Barnes RI, Garg A.

Int J Obes Relat Metab Disord. 2004 Feb;28(2):336-9. Review.PMID: 14557833 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 14715872 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetics of the Berardinelli-Seip syndrome (congenital generalized lipodystrophy) in Norway: epidemiology and gene mapping. Berardinelli-Seip Study Group.

Gedde-Dahl T Jr, Trygstad O, Van Maldergem L, Magré J, van der Hagen CB, Olaisen B, Stenersen M, Mevåg B.

Acta Paediatr Suppl. 1996 Jun;413:52-8.PMID: 8783773 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2007 May 29.PMID: 17535271 [PubMed - indexed for MEDLINE]Related articles

Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes.

Simha V, Garg A.

J Clin Endocrinol Metab. 2003 Nov;88(11):5433-7.PMID: 14602785 [PubMed - indexed for MEDLINE]Related articlesFree article

Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene.

Ebihara K, Kusakabe T, Masuzaki H, Kobayashi N, Tanaka T, Chusho H, Miyanaga F, Miyazawa T, Hayashi T, Hosoda K, Ogawa Y, Nakao K.

J Clin Endocrinol Metab. 2004 May;89(5):2360-4.PMID: 15126564 [PubMed - indexed for MEDLINE]Related articlesFree article

Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblings.

Raygada M, Rennert O.

Clin Genet. 2005 Jan;67(1):98-101.PMID: 15617555 [PubMed - indexed for MEDLINE]Related articles

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

Agarwal AK, Arioglu E, De Almeida S, Akkoc N, Taylor SI, Bowcock AM, Barnes RI, Garg A.

Nat Genet. 2002 May;31(1):21-3. Epub 2002 Apr 22.PMID: 11967537 [PubMed - indexed for MEDLINE]Related articles

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.

Saar K, Al-Gazali L, Sztriha L, Rueschendorf F, Nur-E-Kamal M, Reis A, Bayoumi R.

Am J Hum Genet. 1999 Dec;65(6):1666-71.PMID: 10577920 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 12765973 [PubMed - indexed for MEDLINE]Related articlesFree article

Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22.

Afzal AR, Rajab A, Fenske C, Crosby A, Lahiri N, Ternes-Pereira E, Murday VA, Houlston R, Patton MA, Jeffery S.

Hum Genet. 2000 Mar;106(3):351-4.PMID: 10798366 [PubMed - indexed for MEDLINE]Related articles

Fine mapping of the nail-patella syndrome locus at 9q34.

McIntosh I, Clough MV, Schäffer AA, Puffenberger EG, Horton VK, Peters K, Abbott MH, Roig CM, Cutone S, Ozelius L, Kwiatkowski DJ, Pyeritz RE, Brown LJ, Pauli RM, McCormick MK, Francomano CA.

Am J Hum Genet. 1997 Jan;60(1):133-42.PMID: 8981956 [PubMed - indexed for MEDLINE]Related articlesFree article

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.

Van Maldergem L, Magré J, Khallouf TE, Gedde-Dahl T Jr, Delépine M, Trygstad O, Seemanova E, Stephenson T, Albott CS, Bonnici F, Panz VR, Medina JL, Bogalho P, Huet F, Savasta S, Verloes A, Robert JJ, Loret H, De Kerdanet M, Tubiana-Rufi N, Mégarbané A, Maassen J, Polak M, Lacombe D, Kahn CR, Silveira EL, D'Abronzo FH, Grigorescu F, Lathrop M, Capeau J, O'Rahilly S.

J Med Genet. 2002 Oct;39(10):722-33. Erratum in: J Med Genet. 2003 Feb;40(2):150.. PMID: 12362029 [PubMed - indexed for MEDLINE]Related articlesFree article

A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q.

Jackson SN, Pinkney J, Bargiotta A, Veal CD, Howlett TA, McNally PG, Corral R, Johnson A, Trembath RC.

Am J Hum Genet. 1998 Aug;63(2):534-40.PMID: 9683602 [PubMed - indexed for MEDLINE]Related articlesFree article

Congenital generalized lipodystrophy in a 4-month-old infant.

Lee IH, Chen HL, Jeng YM, Cheng MT, Tsao LY, Chang MH.

J Formos Med Assoc. 2001 Sep;100(9):623-7.PMID: 11695279 [PubMed - indexed for MEDLINE]Related articles