P
P. Bogalho
Publications - 2
Citations - 900
P. Bogalho is an academic researcher. The author has contributed to research in topics: BSCL2 & Congenital generalized lipodystrophy. The author has an hindex of 2, co-authored 2 publications receiving 841 citations.
Papers
More filters
Journal ArticleDOI
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
Jocelyne Magré,Marc Delepine,Eliane Khallouf,Tobias Gedde-Dahl,Lionel Van Maldergem,Eric M. Sobel,Jeanette C. Papp,Muriel Meier,André Mégarbané,A. Bachy,Alain Verloes,F. H. D'abronzo,E. Seemanova,Roger Assan,N. Baudic,Bourut C,Paul Czernichow,Frédéric Huet,Florin Grigorescu,M. De Kerdanet,Didier Lacombe,Philippe Labrune,M. Lanza,H. Loret,Fumihiko Matsuda,J. Navarro,A. Nivelon-Chevalier,Meraida Polak,J.-J. Robert,P. Tric,N. Tubiana-Rufi,Corinne Vigouroux,Jean Weissenbach,S. Savasta,J. A. Maassen,O. Trygstad,P. Bogalho,P. Freitas,J. L. Medina,F. Bonnicci,Barry I Joffe,G. Loyson,Vanessa R. Panz,Frederick J. Raal,Stephen O'Rahilly,T. Stephenson,C R Kahn,Mark Lathrop,Jacqueline Capeau +48 more
TL;DR: A genome screen of nine BSCL families from two geographical clusters revealed mutations in a gene homologous to the murine guanine nucleotide-binding protein, γ3-linked gene (Gng3lg) in all BSCL2-linked families, of general importance for understanding the molecular mechanisms underlying regulation of body fat distribution and insulin resistance.
Journal ArticleDOI
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy
L. Van Maldergem,J. Magre,T. E. Khallouf,Tobias Gedde-Dahl,Marc Delepine,O. Trygstad,E. Seemanova,T. Stephenson,C. S. Albott,F. Bonnici,Vanessa R. Panz,J. L. Medina,P. Bogalho,Frédéric Huet,S. Savasta,Alain Verloes,J.-J. Robert,H. Loret,M. De Kerdanet,N. Tubiana-Rufi,André Mégarbané,Johannes A Maassen,Michel Polak,Didier Lacombe,C R Kahn,Estevan Luiz da Silveira,F. H. D'abronzo,Florin Grigorescu,Mark Lathrop,Jacqueline Capeau,Stephen O'Rahilly +30 more
TL;DR: In this paper, the genotype/phenotype relationships in 70 affected subjects from 44 apparently unrelated pedigrees of diverse ethnic origin were studied and a significantly higher prevalence of intellectual impairment than those with BSCL1 or BSCLX (p<0.0001, OR 17.0, CI 3.6 to 79.0).