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Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy

The New England journal of medicine, 2011-02, Vol.364 (8), p.740-748

2011

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Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes

BMC medicine, 2022-03, Vol.20 (1), p.95-95, Article 95

2022

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Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics

Genes, 2021-09, Vol.12 (10), p.1508

2021

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Adherence with metreleptin therapy and health self-perception in patients with lipodystrophic syndromes

Orphanet journal of rare diseases, 2019-07, Vol.14 (1), p.177-177, Article 177

2019

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Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease

Frontiers in endocrinology (Lausanne), 2020-02, Vol.11, p.39-39

2020

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Metabolic and cardiac phenotype characterization in 37 atypical Dunnigan patients with nonfarnesylated mutated prelamin A

The American heart journal, 2015-04, Vol.169 (4), p.587-593

2015

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Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases

Skeletal radiology, 2016-11, Vol.45 (11), p.1495-1506

2016

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Screening for Lynch Syndrome in Colorectal Cancer: Are We Doing Enough?

Annals of surgical oncology, 2012-03, Vol.19 (3), p.809-816

2012

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Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report

BMC research notes, 2017-09, Vol.10 (1), p.487-487, Article 487

2017

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Looking at New Unexpected Disease Targets in LMNA -Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice

Cells (Basel, Switzerland), 2020-03, Vol.9 (3), p.765

2020

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Correction to: Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report

BMC research notes, 2017-10, Vol.10 (1), p.492-492, Article 492

2017

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Type A Insulin Resistance Syndrome Revealing a Novel Lamin A Mutation

Diabetes (New York, N.Y.), 2005-06, Vol.54 (6), p.1873-1878

2005

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Prevalence of Mutations in AGPAT2 Among Human Lipodystrophies

Diabetes (New York, N.Y.), 2003-06, Vol.52 (6), p.1573-1578

2003

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MSI/MMR-deficient tumor diagnosis: Which standard for screening and for diagnosis? Diagnostic modalities for the colon and other sites: Differences between tumors

Bulletin du cancer, 2019-02, Vol.106 (2), p.119-128

2019

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Acquired Generalized Lipodystrophy: A New Cause of Anti-PD-1 Immune-Related Diabetes

Diabetes care, 2019-10, Vol.42 (10), p.2008-2010

2019

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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Circulation (New York, N.Y.), 2019-07, Vol.140 (4), p.293-302

2019

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LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells

European journal of endocrinology, 2021-01, Vol.184 (1), p.155

2021

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Genetic contribution of ABCC2 to Dubin‐Johnson syndrome and inherited cholestatic disorders

Liver international, 2020-01, Vol.40 (1), p.163-174

2020

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LMNA -associated partial lipodystrophy: anticipation of metabolic complications

Journal of medical genetics, 2017-06, Vol.54 (6), p.413

2017

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Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia

European journal of endocrinology, 2021-12, Vol.185 (6), p.841

2021

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Peroxisome proliferator-activated receptor-γ mutations responsible for lipodystrophy with severe hypertension activate the cellular renin-angiotensin system

Arteriosclerosis, thrombosis, and vascular biology, 2013-04, Vol.33 (4), p.829

2013

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Diagnostic challenge in PLIN1-associated Familial Partial Lipodystrophy

The journal of clinical endocrinology and metabolism, 2019-12, Vol.104 (12), p.6025-6032

2019

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Clinical Utility Gene Card for: Familial partial lipodystrophy

European journal of human genetics : EJHG, 2017-02, Vol.25 (2), p.271-271

2017

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Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy

Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes

Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics

Adherence with metreleptin therapy and health self-perception in patients with lipodystrophic syndromes

Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease

Metabolic and cardiac phenotype characterization in 37 atypical Dunnigan patients with nonfarnesylated mutated prelamin A

Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases

Screening for Lynch Syndrome in Colorectal Cancer: Are We Doing Enough?

Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France[S]

Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report

Looking at New Unexpected Disease Targets in LMNA -Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice

Correction to: Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report

Type A Insulin Resistance Syndrome Revealing a Novel Lamin A Mutation

Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC

Prevalence of Mutations in AGPAT2 Among Human Lipodystrophies

MSI/MMR-deficient tumor diagnosis: Which standard for screening and for diagnosis? Diagnostic modalities for the colon and other sites: Differences between tumors

Acquired Generalized Lipodystrophy: A New Cause of Anti-PD-1 Immune-Related Diabetes

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells

Genetic contribution of ABCC2 to Dubin‐Johnson syndrome and inherited cholestatic disorders

LMNA -associated partial lipodystrophy: anticipation of metabolic complications

Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia

Peroxisome proliferator-activated receptor-γ mutations responsible for lipodystrophy with severe hypertension activate the cellular renin-angiotensin system

Diagnostic challenge in PLIN1-associated Familial Partial Lipodystrophy

Clinical Utility Gene Card for: Familial partial lipodystrophy

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