Kategorie:
PubID
Gen
MIM
ABCC8
AGPAT2
AIRE
23652376 A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient
ALMS1
APPL1
BLK
18057387 Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus
BSCL2
26239609 Congenital generalized lipodystrophies--new insights into metabolic dysfunction
CAV1
19726876 Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
CAVIN1
CEL
20049731 Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC
CIDEC
23429432 Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype
CISD2
CTLA4
CYC1
DCAF17
DNAJC3
DUT
DYRK1B
EIF2AK3
EIF2S3
FOXP3
20854389 Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis
GATA4
GATA6
GCK
GLIS3
HNF1A
HNF1B
HNF4A
IER3IP1
IL2RA
20803656 Permanent Neonatal Diabetes Mellitus
INS
INSR
ITCH
KCNJ11
KLF11
20625965 Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family
LMNA
16826530 Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy
LMNB2
LRBA
MNX1
MT-CO1
MT-CO3
MT-ND1
MT-ND4
MT-ND6
MT-RNR1
MT-RNR2
MT-TE
MT-TI
MT-TK
MT-TL1
MT-TR
MT-TS1
NEUROD1
NEUROG3
NKX2-2
PAX4
PAX6
PCBD1
PDX1
PLAGL1
12118251 Digenic inheritance of severe insulin resistance in a human pedigree
PPARG
PPP1R15B
PPP1R3A
PTF1A
RFX6
SIRT1
SLC19A2
SLC29A3
SLC2A2
STAT1
STAT3
STAT5A
STAT5B
TRMT10A
TWNK
UCP2
WFS1
22654791 Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient
WRN
ZFP57
19162222 Lipodystrophies: disorders of adipose tissue biology
ZMPSTE24