Lista de obras - Marita Lipsanen-Nyman - Dominio Público Uruguay

A Two-Base Deletion –439delGC in the Melanocortin-4 Receptor Promoter Associated with Early-Onset Obesity

artículo científico publicado en 2006

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

artículo científico publicado en 2006

Association of intramyocellular, intraperitoneal and liver fat with glucose tolerance in severely obese adolescents

artículo científico publicado en 2010

Bone Characteristics and Their Determinants in Adolescents and Young Adults with Early-Onset Severe Obesity

artículo científico publicado en 2015

Cardiac dysfunction in children with mulibrey nanism

artículo científico publicado en 2007

Cardiac involvement in Mulibrey nanism: characterization with magnetic resonance imaging

artículo científico publicado en 2004

Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies

artículo científico publicado en 2008

Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.

artículo científico publicado en 2013

Growth and growth hormone therapy in subjects with mulibrey nanism

artículo científico publicado en 2007

Growth in children with poor-risk neuroblastoma after regimens with or without total body irradiation in preparation for autologous bone marrow transplantation

artículo científico publicado en 1999

Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas

artículo científico publicado en 2009

High frequency of tumours in Mulibrey nanism

artículo científico publicado en 2009

Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children

artículo científico publicado en 2017

Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults

artículo científico publicado en 2004

Insulin resistance syndrome in subjects with mutated RING finger protein TRIM37

artículo científico publicado en 2005

Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland

artículo científico publicado en 2015

Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasia

artículo científico publicado en 2011

Mulibrey heart disease: clinical manifestations, long-term course, and results of pericardiectomy in a series of 49 patients born before 1985.

artículo científico publicado en 2003

Novel mutations in the TRIM37 gene in Mulibrey Nanism

artículo científico publicado en 2004

Renal findings in patients with Mulibrey nanism

artículo científico publicado en 2017

Restriction site-specific methylation studies of imprinted genes with quantitative real-time PCR.

artículo científico publicado en 2008

Risk factors for reduced areal bone mineral density in young adults with stem cell transplantation in childhood

artículo científico publicado en 2006

Suppressed bone turnover in obesity: a link to energy metabolism? A case-control study

artículo científico publicado en 2014

TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase

artículo científico publicado en 2005

Testicular Failure and Male Infertility in the Monogenic Mulibrey Nanism Disorder

article

The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder

artículo científico publicado en 2002

The mutation spectrum in RECQL4 diseases

artículo científico publicado en 2008

Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism

artículo científico publicado en 2016

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.

artículo científico publicado en 2017

Lista de obras de Marita Lipsanen-Nyman

A Two-Base Deletion –439delGC in the Melanocortin-4 Receptor Promoter Associated with Early-Onset Obesity

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

Association of intramyocellular, intraperitoneal and liver fat with glucose tolerance in severely obese adolescents

Bone Characteristics and Their Determinants in Adolescents and Young Adults with Early-Onset Severe Obesity

Cardiac dysfunction in children with mulibrey nanism

Cardiac involvement in Mulibrey nanism: characterization with magnetic resonance imaging

Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies

Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.

Growth and growth hormone therapy in subjects with mulibrey nanism

Growth in children with poor-risk neuroblastoma after regimens with or without total body irradiation in preparation for autologous bone marrow transplantation

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

Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children

Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults

Insulin resistance syndrome in subjects with mutated RING finger protein TRIM37

Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland

Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasia

Mulibrey heart disease: clinical manifestations, long-term course, and results of pericardiectomy in a series of 49 patients born before 1985.

Novel mutations in the TRIM37 gene in Mulibrey Nanism

Renal findings in patients with Mulibrey nanism

Restriction site-specific methylation studies of imprinted genes with quantitative real-time PCR.

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

TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase

Testicular Failure and Male Infertility in the Monogenic Mulibrey Nanism Disorder

The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder

The mutation spectrum in RECQL4 diseases

Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.