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Scholar Results 1 - 10 of about 101 related to Haque: Risk factors for diabetes in familial partial lipodystrophy, Dunnigan variety. (0.12 sec) 

Risk factors for diabetes in familial partial lipodystrophy, Dunnigan variety

- diabetesjournals.org
WA Haque, EA Oral, K Dietz, AM Bowcock, AK … - Diabetes Care, 2003 - Am Diabetes Assoc
RESULTS—We studied 52 women and 24 men with FPLD from 18 different families.
Twenty-eight women (54%) but only four men (17%) had diabetes (P < 0.001);
therefore further comparisons were mostly limited to women. Compared with ...
Cited by 21 - Related articles - BL Direct - All 5 versions

Post-mortem findings in familial partial lipodystrophy, Dunnigan variety


WA Haque, F Vuitch, A Garg - Diabetic Medicine, 2002 - interscience.wiley.com
ResultsPatient 1, a 66-year-old woman with the R482Q mutation, had diabetes
mellitus, dyslipidaemia, and coronary artery disease and died suddenly. Autopsy
confirmed the typical body fat distribution and further revealed excess fat ...
Cited by 21 - Related articles - BL Direct - All 4 versions

Gender differences in the prevalence of metabolic complications in familial partial …

- endojournals.org
A Garg - Journal of Clinical Endocrinology & Metabolism, 2000 - Endocrine Soc
Familial partial lipodystrophy, Dunnigan type (FPLD; Mendelian Inheritance in
Man #151660), is an autosomal dominant disorder characterized by loss of sc fat
from the extremities and trunk since puberty and predisposition to insulin ...
Cited by 63 - Related articles - BL Direct - All 6 versions

Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan variety) …

- endojournals.org
A Garg, M Vinaitheerthan, PT Weatherall, AM … - Journal of Clinical Endocrinology & Metabolism, 2001 - Endocrine Soc
The lamin A/C (LMNA) gene has recently been reported to be mutated in familial
partial lipodystrophy, Dunnigan variety (FPLD). We found mutations within exon 8
of LMNA (R482Q, R482W, and G465D) in 12 families with typical FPLD and in ...
Cited by 61 - Related articles - BL Direct - All 4 versions

Phenotypic heterogeneity in body fat distribution in patients with congenital generalized …

- endojournals.org
V Simha, A Garg - Journal of Clinical Endocrinology & Metabolism, 2003 - Endocrine Soc
Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive
syndrome characterized by extreme paucity of adipose tissue since birth,
acanthosis nigricans, severe insulin resistance, marked ...
Cited by 36 - Related articles - BL Direct - All 4 versions

Köbberling Type of Familial Partial Lipodystrophy


KL Herbst, LR Tannock, SS Deeb, JQ Purnell, … - Diabetes care, 2003 - Am Diabetes Assoc
RESULTS—Only women with clinical features of FPLD1 have been identified.
Although they lack extremity and gluteal subcutaneous fat, they do have truncal
obesity. Skinfold thickness on the arm and leg was significantly less than ...
Cited by 23 - Related articles - BL Direct - All 6 versions

Clinical features and metabolic derangements in acquired generalized lipodystrophy: case …


A Misra, A Garg - Medicine, 2003 - journals.lww.com
Abstract: We present clinical descriptions, metabolic features, and patterns of
body fat loss of 16 patients with acquired general- ized lipodystrophy (AGL)
seen by us over the last 10 years. In ad- dition, we review 63 cases of AGL ...
Cited by 52 - Related articles - BL Direct - All 4 versions

The skeleton in congenital, generalized lipodystrophy: evaluation using whole-body …


JL Fleckenstein, A Garg, FJ Bonte, MF Vuitch … - Skeletal radiology, 1992 - Springer
Abstract. Congenital generalized lipodystrophy (CGL) is a rare genetic disease
characterized by the absence of body fat from birth. Focal bone lesions have
also been reportcd, but their pathophysiology is poorly un- derstood. To ...
Cited by 21 - Related articles - All 3 versions

Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and …


EK Pivnick, B Angle, RA Kaufman, BD Hall, P … - American journal of medical genetics, 2000 - interscience.wiley.com
The neonatal progeroid syndrome (NPS), or Wiedemann-Rautenstrauch, is a rare
autosomal recessive disorder comprised of generalized lipoatrophy except for fat
pads in the suprabuttock areas, hypotrichosis of the scalp hair, eyebrows, ...
Cited by 31 - Related articles - BL Direct - All 3 versions

Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated …

- angrylapdog.com
V Simha, AK Agarwal, EA Oral, JP Fryns, A … - Journal of Clinical Endocrinology & Metabolism, 2003 - jcem.endojournals.org.p.angrylapdog.com
Mandibuloacral dysplasia (MAD) is a phenotypically heterogeneous, rare autosomal
recessive disorder characterized by mandibular and clavicular hypoplasia,
acroosteolysis, delayed closure of cranial sutures, joint contractures, and ...
Cited by 50 - Related articles - BL Direct - All 7 versions


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