Lista de obras - Taneli Raivio - Dominio Público Uruguay

A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as reversal of hypogonadotropic hypogonadism and late-onset hypogonadism

artículo científico publicado en 2013

A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty

artículo científico publicado en 2015

Are Adolescent Boys with Klinefelter Syndrome Androgen Deficient? A Longitudinal Study of Finnish 47,XXY Boys

scientific article published on 26 April 2006

Bone mineral density, body composition and bone turnover in patients with congenital hypogonadotropic hypogonadism

artículo científico publicado en 2012

Characterization of the human GnRH neuron developmental transcriptome using a GNRH1-TdTomato reporter line in human pluripotent stem cells

scientific article published on 29 January 2020

Childhood growth in boys with congenital hypogonadotropic hypogonadism

artículo científico publicado en 2015

Childhood growth of females with Kallmann syndrome and FGFR1 mutations

artículo científico publicado en 2014

Cholesterol Metabolism Altered and FGF21 Levels High After Pediatric Liver Transplantation Despite Normal Serum Lipids

artículo científico publicado en 2012

Circulating Anti-Müllerian Hormone Levels in Adult Men Are under a Strong Genetic Influence

scientific article published on 02 November 2011

Circulating antiandrogenic activity in children with congenital adrenal hyperplasia during peroral flutamide treatment

artículo científico publicado en 2005

Circulating antimüllerian hormone levels in boys decline during early puberty and correlate with inhibin B.

artículo científico publicado en 2012

Circulating glucocorticoid bioactivity in the preterm newborn after antenatal betamethasone treatment

artículo científico publicado en 2004

Circulating makorin ring finger protein 3 levels decline in boys before the clinical onset of puberty

scholarly article by Tero Varimo et al published June 2016 in European Journal of Endocrinology

Circulating makorin ring-finger protein-3 (MKRN3) levels in healthy men and in men with hypogonadotropic hypogonadism

artículo científico publicado en 2015

Combined negative effect of donor age and time in culture on the reprogramming efficiency into induced pluripotent stem cells.

artículo científico publicado en 2015

Comparison of solution-based exome capture methods for next generation sequencing

artículo científico publicado en 2011

Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

artículo científico publicado en 2016

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

artículo científico publicado en 2014

Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center

artículo científico publicado en 2016

De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss

artículo científico publicado en 2014

Decrease in circulating fibroblast growth factor 21 after an oral fat load is related to postprandial triglyceride-rich lipoproteins and liver fat.

artículo científico publicado en 2011

Development of Gonadotropin-Releasing Hormone-Secreting Neurons from Human Pluripotent Stem Cells.

artículo científico publicado en 2016

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

artículo científico publicado en 2007

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

artículo científico publicado en 2011

Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment

artículo científico publicado en 2015

Fecal calprotectin remains high during glucocorticoid therapy in children with inflammatory bowel disease

scholarly article by Kaija-Leena Kolho et al published January 2006 in Scandinavian Journal of Gastroenterology

Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.

artículo científico publicado en 2012

Genetic features of the X chromosome affect pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome

artículo científico

Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia

artículo científico publicado en 2012

Genetics of congenital hypogonadotropic hypogonadism in Denmark

artículo científico publicado en 2014

Glucocorticoid bioactivity does not predict response to steroid therapy in severe pediatric ulcerative colitis

artículo científico publicado en 2010

Gonadotrophin replacement for induction of fertility in hypogonadal men.

artículo científico publicado en 2014

Gonadotropin-releasing hormone receptor mutations in ageing men

artículo científico publicado en 2015

Health-related quality of life in male patients with congenital hypogonadotropic hypogonadism

artículo científico publicado en 2015

Hereditary myopathy with early respiratory failure: occurrence in various populations

artículo científico publicado en 2013

High-sensitivity C-reactive protein in paediatric inflammatory bowel disease

artículo científico publicado en 2010

Identification of glucocorticoid-response genes in children with acute lymphoblastic leukemia

artículo científico publicado en 2005

Idiopathic hypogonadotropic hypogonadism in a mother and her monozygotic twins born after a single embryo transfer

artículo científico publicado en 2010

Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism ⬇️

scientific article published on 09 October 2009

Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland

artículo científico publicado en 2011

Intra-articular corticoid injection induces circulating glucocorticoid bioactivity and systemic immune activation in juvenile idiopathic arthritis

artículo científico publicado en 2011

Isolated cryptorchidism: No evidence for involvement of genes underlying isolated hypogonadotropic hypogonadism

article

LIN28B in constitutional delay of growth and puberty

artículo científico publicado en 2010

LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty

artículo científico publicado en 2011

Late follicular phase administration of mifepristone suppresses circulating leptin and FSH - mechanism(s) of action in emergency contraception?

artículo científico publicado en 2005

Letter to the Editor: Comment On The Treatment Of Adolescent Boys With Hypogonadotropic Hypogonadism By Gong C., et al

scientific article published on 01 September 2015

Liver fat but not other adiposity measures influence circulating FGF21 levels in healthy young adult twins.

artículo científico publicado en 2010

MANAGEMENT OF ENDOCRINE DISEASE: Reversible hypogonadotropic hypogonadism

artículo científico publicado en 2016

Methylprednisolone Exposure in Pediatric Renal Transplant Patients

artículo científico publicado en 2006

Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism

scientific article published on 12 February 2014

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism

artículo científico publicado en 2013

Neural Progenitor Cells Derived from Human Embryonic Stem Cells as an Origin of Dopaminergic Neurons

artículo científico publicado en 2015

Neural crest cells: from developmental biology to clinical interventions

artículo científico

Notch signaling regulates the differentiation of neural crest from human pluripotent stem cells

artículo científico publicado en 2014

PROKR2 mutations in autosomal recessive Kallmann syndrome

artículo científico publicado en 2012

Precocious Puberty or Premature Thelarche: Analysis of a Large Patient Series in a Single Tertiary Center with Special Emphasis on 6- to 8-Year-Old Girls

artículo científico publicado en 2017

Recombinant Human FSH Treatment Outcomes in Five Boys With Severe Congenital Hypogonadotropic Hypogonadism

scientific article published on 15 October 2018

Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations

artículo científico publicado en 2012

Serum FGF21 in boys with idiopathic short stature: relationship to lipid profile, onset of puberty and growth*

Serum androgen bioactivity in adolescence: a longitudinal study of boys with constitutional delay of puberty

artículo científico publicado en 2004

Serum angiopoietin-like 4 protein levels and expression in adipose tissue are inversely correlated with obesity in monozygotic twins

artículo científico publicado en 2011

Serum glucocorticoids and adiponectin associate with insulin resistance in children born small for gestational age.

artículo científico publicado en 2009

Termination of pregnancy with mifepristone and prostaglandin suppresses transiently circulating glucocorticoid bioactivity

artículo científico publicado en 2003

The Role of Sequential BMP Signaling in Directing Human Embryonic Stem Cells to Bipotential Gonadal Cells

artículo científico publicado en 2017

The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty.

artículo científico publicado en 2011

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

artículo científico publicado en 2017

Lista de obras de Taneli Raivio

A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as reversal of hypogonadotropic hypogonadism and late-onset hypogonadism

A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty

Are Adolescent Boys with Klinefelter Syndrome Androgen Deficient? A Longitudinal Study of Finnish 47,XXY Boys

Bone mineral density, body composition and bone turnover in patients with congenital hypogonadotropic hypogonadism

Characterization of the human GnRH neuron developmental transcriptome using a GNRH1-TdTomato reporter line in human pluripotent stem cells

Childhood growth in boys with congenital hypogonadotropic hypogonadism

Childhood growth of females with Kallmann syndrome and FGFR1 mutations

Cholesterol Metabolism Altered and FGF21 Levels High After Pediatric Liver Transplantation Despite Normal Serum Lipids

Circulating Anti-Müllerian Hormone Levels in Adult Men Are under a Strong Genetic Influence

Circulating antiandrogenic activity in children with congenital adrenal hyperplasia during peroral flutamide treatment

Circulating antimüllerian hormone levels in boys decline during early puberty and correlate with inhibin B.

Circulating glucocorticoid bioactivity in the preterm newborn after antenatal betamethasone treatment

Circulating makorin ring finger protein 3 levels decline in boys before the clinical onset of puberty

Circulating makorin ring-finger protein-3 (MKRN3) levels in healthy men and in men with hypogonadotropic hypogonadism

Combined negative effect of donor age and time in culture on the reprogramming efficiency into induced pluripotent stem cells.

Comparison of solution-based exome capture methods for next generation sequencing

Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center

De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss

Decrease in circulating fibroblast growth factor 21 after an oral fat load is related to postprandial triglyceride-rich lipoproteins and liver fat.

Development of Gonadotropin-Releasing Hormone-Secreting Neurons from Human Pluripotent Stem Cells.

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment

Fecal calprotectin remains high during glucocorticoid therapy in children with inflammatory bowel disease

Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.

Genetic features of the X chromosome affect pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome

Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia

Genetics of congenital hypogonadotropic hypogonadism in Denmark

Glucocorticoid bioactivity does not predict response to steroid therapy in severe pediatric ulcerative colitis

Gonadotrophin replacement for induction of fertility in hypogonadal men.

Gonadotropin-releasing hormone receptor mutations in ageing men

Health-related quality of life in male patients with congenital hypogonadotropic hypogonadism

Hereditary myopathy with early respiratory failure: occurrence in various populations

High-sensitivity C-reactive protein in paediatric inflammatory bowel disease

Identification of glucocorticoid-response genes in children with acute lymphoblastic leukemia

Idiopathic hypogonadotropic hypogonadism in a mother and her monozygotic twins born after a single embryo transfer

Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism ⬇️

Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland

Intra-articular corticoid injection induces circulating glucocorticoid bioactivity and systemic immune activation in juvenile idiopathic arthritis

Isolated cryptorchidism: No evidence for involvement of genes underlying isolated hypogonadotropic hypogonadism

LIN28B in constitutional delay of growth and puberty

LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty

Late follicular phase administration of mifepristone suppresses circulating leptin and FSH - mechanism(s) of action in emergency contraception?

Letter to the Editor: Comment On The Treatment Of Adolescent Boys With Hypogonadotropic Hypogonadism By Gong C., et al

Liver fat but not other adiposity measures influence circulating FGF21 levels in healthy young adult twins.

MANAGEMENT OF ENDOCRINE DISEASE: Reversible hypogonadotropic hypogonadism

Methylprednisolone Exposure in Pediatric Renal Transplant Patients

Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism

Neural Progenitor Cells Derived from Human Embryonic Stem Cells as an Origin of Dopaminergic Neurons

Neural crest cells: from developmental biology to clinical interventions

Notch signaling regulates the differentiation of neural crest from human pluripotent stem cells

PROKR2 mutations in autosomal recessive Kallmann syndrome

Precocious Puberty or Premature Thelarche: Analysis of a Large Patient Series in a Single Tertiary Center with Special Emphasis on 6- to 8-Year-Old Girls

Recombinant Human FSH Treatment Outcomes in Five Boys With Severe Congenital Hypogonadotropic Hypogonadism

Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations

Serum FGF21 in boys with idiopathic short stature: relationship to lipid profile, onset of puberty and growth*

Serum androgen bioactivity in adolescence: a longitudinal study of boys with constitutional delay of puberty

Serum angiopoietin-like 4 protein levels and expression in adipose tissue are inversely correlated with obesity in monozygotic twins

Serum glucocorticoids and adiponectin associate with insulin resistance in children born small for gestational age.

Termination of pregnancy with mifepristone and prostaglandin suppresses transiently circulating glucocorticoid bioactivity

The Role of Sequential BMP Signaling in Directing Human Embryonic Stem Cells to Bipotential Gonadal Cells

The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty.

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