1 |
Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.
61
|
Xie B...Shen Y
|
32236581 |
2020 |
2 |
Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.
61
|
Ferranti S...Grosso S
|
32440981 |
2020 |
3 |
A rare frameshift mutation in the AGPAT2 gene in a family from gaza with congenital generalized lipodystrophy.
61
|
Gorin K...Durst R
|
32412105 |
2020 |
4 |
Changes in redox and endoplasmic reticulum homeostasis are related to congenital generalized lipodystrophy type 2.
61
|
Craveiro Sarmento AS...Araujo de Melo Campos JT
|
31917334 |
2020 |
5 |
Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.
61
|
Nilay Gunes...Tuysuz B
|
31778856 |
2020 |
6 |
GPAT3 deficiency alleviates insulin resistance and hepatic steatosis in a mouse model of severe congenital generalized lipodystrophy.
61
|
Gao M...Yang H
|
31873720 |
2020 |
7 |
Acromegaly with congenital generalized lipodystrophy - two rare insulin resistance conditions in one patient: a case report.
61
|
Guerreiro V...Freitas P
|
32079542 |
2020 |
8 |
High prevalence of congenital generalized lipodystrophy in Piura, Peru.
61
|
Purizaca-Rosillo ND...Avila Reyes A
|
32201678 |
2020 |
9 |
Oligomers of the lipodystrophy protein seipin may co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte differentiation.
61
|
Sim MFM...Rochford JJ
|
32094408 |
2020 |
10 |
Interaction of cavin-1/PTRF leucine zipper domain 2 and its congenital generalized lipodystrophy mutant with model membranes.
61
|
Mohapatra A...Chaudhary N
|
31706570 |
2020 |
11 |
Metabolomic Analysis of the Effects of Leptin Replacement Therapy in Patients with Lipodystrophy.
61
|
Grewal S...Muniyappa R
|
32010873 |
2020 |
12 |
Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant.
61
|
Sorkina E...Tiulpakov A
|
32467771 |
2020 |
13 |
Neonatal cardiac hypertrophy: the role of hyperinsulinism-a review of literature.
61
|
Paauw ND...Breur JMPJ
|
31840185 |
2020 |
14 |
Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications.
61
|
Montenegro Junior RM...d'Alva CB
|
32280377 |
2020 |
15 |
Early Left Ventricular Systolic Dysfunction Detected by Two-Dimensional Speckle-Tracking Echocardiography in Young Patients with Congenital Generalized Lipodystrophy.
61
|
Liberato CBR...Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO)
|
32021357 |
2020 |
16 |
Seipin-linked congenital generalized lipodystrophy type 2: a rare case with multiple lytic and pseudo-osteopoikilosis lesions.
61
|
Yamamoto A...Abe S
|
31853371 |
2019 |
17 |
Leptin Restores Endothelial Function via Endothelial PPARγ-Nox1-Mediated Mechanisms in a Mouse Model of Congenital Generalized Lipodystrophy.
61
|
Bruder-Nascimento T...Belin de Chantemele EJ
|
31656096 |
2019 |
18 |
Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy: A case report.
61
|
Zhang Y...Chen S
|
31770241 |
2019 |
19 |
Berardinelli Seip Congenital Lipodystrophy Syndrome: 10 Year Follow-up.
61
|
Joshi R...Sharma S
|
31724546 |
2019 |
20 |
Retinopathy and Uveitis in Congenital Generalized Lipodystrophy with Hypertriglyceridemia and Uncontrolled Diabetes (Berardinelli-Seip Syndrome).
61
|
Rubaie KA...Kozak I
|
32153340 |
2019 |
21 |
A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy
61
|
Oswiecimska J...Gawlinski P
|
30563316 |
2019 |
22 |
Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants.
61
|
Liu Y...Yang Y
|
30266686 |
2019 |
23 |
Seipin deletion in mice enhances phosphorylation and aggregation of tau protein through reduced neuronal PPARγ and insulin resistance.
61
|
Chang H...Chen L
|
30910747 |
2019 |
24 |
Congenital lipodystrophy induces severe osteosclerosis.
61
|
Zou W...Teitelbaum SL
|
31233501 |
2019 |
25 |
Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants.
61
|
Broekema MF...Kalkhoven E
|
30742913 |
2019 |
26 |
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.
61
|
Sanchez-Iglesias S...Araujo-Vilar D
|
30903322 |
2019 |
27 |
Type 2 Congenital Generalized Lipodystrophy: The Diagnosis is in Your Hands.
61
|
Montenegro RM...Lima JG
|
30579587 |
2019 |
28 |
Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations.
61
|
Patni N...Garg A
|
30476128 |
2019 |
29 |
Aggressive papillary thyroid carcinoma in a child with type 2 congenital generalized lipodystrophy.
61
|
Lima GEDCP...Montenegro Junior RM
|
30864635 |
2019 |
30 |
Berardinelli-Seip syndrome and progressive myoclonus epilepsy.
61
|
Serino D...Fioretto F
|
30767895 |
2019 |
31 |
Congenital generalized lipodystrophy in Taiwan.
61
|
Hsu RH...Lee NC
|
29478747 |
2019 |
32 |
Adipose tissue transplantation ameliorates lipodystrophy-associated metabolic disorders in seipin-deficient mice.
61
|
Wang H...Huang W
|
30457912 |
2019 |
33 |
A New Compound Heterozygous Mutation Of BSCL2 In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy.
61
|
Qin YY...Lin FQ
|
31824185 |
2019 |
34 |
Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report.
61
|
Takeyari S...Ozono K
|
30745727 |
2019 |
35 |
Association between cardiovascular autonomic neuropathy and left ventricular hypertrophy in young patients with congenital generalized lipodystrophy.
61
|
Ponte CMM...Montenegro Junior RM
|
31303898 |
2019 |
36 |
The long-term management of congenital generalized lipodystrophy (Berardinelli-Seip syndrome): the clinical manifestations of Japanese siblings for approximately 20 years.
61
|
Maeda M...Ihara K
|
31666767 |
2019 |
37 |
[Mutations in the BSCL2 gene cause congenital generalized lipodystrophy complicated by severe acute pancreatitis: a case report].
61
|
Yu WL...Geng XP
|
30605953 |
2019 |
38 |
[Unusual facies and recurrent high triglycerides for more than one year in a girl].
61
|
Yin ZX...Zou RY
|
30572997 |
2018 |
39 |
Characteristic findings of skeletal muscle MRI in caveolinopathies.
61
|
Ishiguro K...Ishigaki K
|
30174172 |
2018 |
40 |
Renal injury in Seipin-deficient lipodystrophic mice and its reversal by adipose tissue transplantation or leptin administration alone: adipose tissue-kidney crosstalk.
61
|
Liu XJ...Huang W
|
29738274 |
2018 |
41 |
[A case report of congenital generalized lipodystrophy].
61
|
Liu R...Song YZ
|
30369364 |
2018 |
42 |
Expression of AGPAT2, an enzyme involved in the glycerophospholipid/triacylglycerol biosynthesis pathway, is directly regulated by HIF-1 and promotes survival and etoposide resistance of cancer cells under hypoxia.
61
|
Triantafyllou EA...Paraskeva E
|
29908837 |
2018 |
43 |
Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects.
61
|
Dantas de Medeiros JL...Araujo de Melo Campos JT
|
30208912 |
2018 |
44 |
Seipin deficiency in mice causes loss of dopaminergic neurons via aggregation and phosphorylation of α-synuclein and neuroinflammation.
61
|
Wang L...Chen L
|
29670081 |
2018 |
45 |
Anesthesia for patients with PTRF mutations: a case report.
61
|
Hirano A...Suzuki T
|
29457121 |
2018 |
46 |
Clinical outcome in a series of pediatric patients with congenital generalized lipodystrophies treated with dietary therapy.
61
|
Papendieck L...Araujo MB
|
29267171 |
2018 |
47 |
Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy.
61
|
Lima JG...Jeronimo SMB
|
29883474 |
2018 |
48 |
Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy.
61
|
Ponte CMM...Montenegro Junior RM
|
29329523 |
2018 |
49 |
Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy.
61
|
Chen R...Zhang Y
|
28916377 |
2017 |
50 |
Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy.
61
|
Altay C...Akinci B
|
29044029 |
2017 |