about
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorderTRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligaseIdentification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adultsAbsence of a paternally inherited FOXP2 gene in developmental verbal dyspraxiaNovel mutations in the TRIM37 gene in Mulibrey NanismInsulin resistance syndrome in subjects with mutated RING finger protein TRIM37Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.The mutation spectrum in RECQL4 diseases.Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland.Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism.Bone Characteristics and Their Determinants in Adolescents and Young Adults with Early-Onset Severe Obesity.Association of intramyocellular, intraperitoneal and liver fat with glucose tolerance in severely obese adolescents.Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies.Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children.Cardiac involvement in Mulibrey nanism: characterization with magnetic resonance imaging.Cardiac dysfunction in children with mulibrey nanism.Mulibrey heart disease: clinical manifestations, long-term course, and results of pericardiectomy in a series of 49 patients born before 1985.Renal findings in patients with Mulibrey nanism.Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas.High frequency of tumours in Mulibrey nanism.Growth and growth hormone therapy in subjects with mulibrey nanism.Risk factors for reduced areal bone mineral density in young adults with stem cell transplantation in childhood.Suppressed bone turnover in obesity: a link to energy metabolism? A case-control study.Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasia.Restriction site-specific methylation studies of imprinted genes with quantitative real-time PCR.Testicular Failure and Male Infertility in the Monogenic Mulibrey Nanism DisorderA Two-Base Deletion –439delGC in the Melanocortin-4 Receptor Promoter Associated with Early-Onset ObesityGrowth in children with poor-risk neuroblastoma after regimens with or without total body irradiation in preparation for autologous bone marrow transplantation
P50
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P50
description
hulumtuese
@sq
researcher
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wetenschapper
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հետազոտող
@hy
name
Marita Lipsanen-Nyman
@ast
Marita Lipsanen-Nyman
@en
Marita Lipsanen-Nyman
@es
Marita Lipsanen-Nyman
@fr
Marita Lipsanen-Nyman
@nl
Marita Lipsanen-Nyman
@sl
type
label
Marita Lipsanen-Nyman
@ast
Marita Lipsanen-Nyman
@en
Marita Lipsanen-Nyman
@es
Marita Lipsanen-Nyman
@fr
Marita Lipsanen-Nyman
@nl
Marita Lipsanen-Nyman
@sl
prefLabel
Marita Lipsanen-Nyman
@ast
Marita Lipsanen-Nyman
@en
Marita Lipsanen-Nyman
@es
Marita Lipsanen-Nyman
@fr
Marita Lipsanen-Nyman
@nl
Marita Lipsanen-Nyman
@sl
P106
P21
P31
P496
0000-0003-4959-2310