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Scholar Results 1 - 10 of about 101 related to Heathcote: Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman. (0.10 sec) 

Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman

- diabetesjournals.org
K Heathcote, A Rajab, J Magré, P Syrris, M … - Diabetes, 2002 - Am Diabetes Assoc
Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by
the absence of body fat and insulin resistance and accompanied by other
features, including acanthosis nigricans, organomegaly, hyperandrogenism, ...
Cited by 20 - Related articles - BL Direct - All 4 versions

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy

- endojournals.org
AK Agarwal, V Simha, EA Oral, SA Moran, P … - Journal of Clinical Endocrinology & Metabolism, 2003 - Endocrine Soc
CONGENITAL GENERALIZED LIPODYSTROPHY [CGL; Berardinelli-Seip syndrome, Online
Mendelian Inheritance in Man (OMIM) no. 269700; http://www.ncbi.nlm.nih.gov/Omim
/] is a rare autosomal recessive disorder characterized by near complete ...
Cited by 63 - Related articles - BL Direct - All 5 versions

Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman


A Rajab, K Heathcote, S Joshi, S Jeffery, M … - American journal of medical genetics, 2002 - interscience.wiley.com
Seventeen children with congenital generalized lipodystrophy or
Berardinelli-Seip Congenital Lipodystrophy (BSCL) from 12 consanguineous
sibships were observed in Oman. All children had widespread absence of ...
Cited by 18 - Related articles - BL Direct - All 3 versions

Prevalence of mutations in AGPAT2 among human lipodystrophies


J Magré, M Delépine, L Van Maldergem, JJ … - Diabetes, 2003 - Am Diabetes Assoc
Berardinelli-Seip congenital lipodystrophy (BSCL) is a heterogeneous genetic
disease characterized by near absence of adipose tissue and severe insulin
resistance. We have previously identified mutations in the seipin gene in a ...
Cited by 38 - Related articles - BL Direct - All 5 versions

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

- bmj.com [PDF] 
L Van Maldergem, J Magre, TE Khallouf, T … - British Medical Journal, 2002 - jmg.bmj.com
A correction has been published for this article. The contents of the ... L Van
Maldergem, J Magré, TE Khallouf, T Gedde-Dahl Jr, M Delépine, O Trygstad, E
Seemanova, T Stephenson, CS Albott, F Bonnici, VR Panz, JL Medina, P ...
Cited by 72 - Related articles - BL Direct - All 8 versions

[CITATION] A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi-Bickel …


T Matsuura, T Tamura, Y Chinen, T Ohta - Clinical genetics, 2002 - ncbi.nlm.nih.gov
1: Clin Genet. 2002 Sep;62(3):255-6. A novel mutation (N32K) of GLUT2 gene
in a Japanese patient with Fanconi-Bickel syndrome. Matsuura ...
Cited by 3 - Related articles - BL Direct - All 2 versions

A secondary respiratory chain defect in a patient with Fanconi–Bickel syndrome


MH Odievre, A Lombes, P Dessemme, R Santer, … - Journal of inherited metabolic disease, 2002 - Springer
1Service de PeĪdiatrie, Ho“pital Ambroise PareĪ, Boulogne Billancourt;
2UniteĪ INSERM U523, Ho“pital de La Salpe“trie're, Paris, France;
3University Children's Hospital, Kiel, Germany; 4Laboratoire de Biochimie, ...
Cited by 6 - Related articles - BL Direct - All 4 versions

[CITATION] Gene localisation for Wilson-Turner syndrome (WTS: MIM 309585)


A Gedeon, J Mulley, G Turner - American journal of medical genetics, 1996 - ncbi.nlm.nih.gov
1: Am J Med Genet. 1996 Jul 12;64(1):80-1. Gene localisation for Wilson-Turner
syndrome (WTS:MIM 309585). Gedeon A, Mulley J, Turner G. ...
Cited by 6 - Related articles - BL Direct - All 4 versions

[CITATION] Norio R


S Kivitie-Kallio - Cohen syndrome: essential features, natural history, …, 2001
Cited by 6 - Related articles

Shashi XLMR syndrome: report of a second family


NHC Castro, RCS dos Santos, R Nelson, W … - American Journal of Medical Genetics, 2003 - interscience.wiley.com
It is also possible that your web browser is not configured or not able to
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degraded, the site should continue to be functional. We recommend using the ...
Cited by 7 - Related articles - BL Direct - All 4 versions


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