Lista de obras - Frank Tüttelmann - Dominio Público Uruguay

A common haplotype of protamine 1 and 2 genes is associated with higher sperm counts.

artículo científico publicado en 2009

A de novo paradigm for male infertility

artículo científico publicado en 2022

A germ cell-specific ageing pattern in otherwise healthy men

scientific article published on 20 September 2020

A global approach to addressing the policy, research and social challenges of male reproductive health

artículo científico publicado en 2021

Action of steroids and plant triterpenoids on CatSper Ca2+ channels in human sperm

artículo científico publicado en 2018

Anti-Müllerian hormone in men with normal and reduced sperm concentration and men with maldescended testes

artículo científico publicado en 2008

Aquaporins in the human testis and spermatozoa - identification, involvement in sperm volume regulation and clinical relevance

artículo científico publicado en 2009

Azoospermia and ring chromosome 9--a case report.

artículo científico publicado en 2014

Clinical experience with azoospermia: aetiology and chances for spermatozoa detection upon biopsy

artículo científico publicado en 2010

Coiled sperm from infertile patients: characteristics, associated factors and biological implication

artículo científico publicado en 2009

Combined Effects of the VariantsFSHB−211G>T andFSHR2039A>G on Male Reproductive Parameters

artículo científico publicado en 2012

Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males

artículo científico publicado en 2013

Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome.

artículo científico publicado en 2011

DMRT1 mutations are rarely associated with male infertility

artículo científico publicado en 2014

EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013.

artículo científico publicado en 2014

ESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical issues

artículo científico publicado en 2014

Effects of the FSH-β-subunit promoter polymorphism -211G->T on the hypothalamic-pituitary-ovarian axis in normally cycling women indicate a gender-specific regulation of gonadotropin secretion.

artículo científico publicado en 2012

Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

artículo científico publicado en 2017

European Acedemy of Andrology (EAA) GUIDELINES ON KLINEFELTER SYNDROME - Endorsing Organisation: European Society of Endocrinology

scientific article published on 22 September 2020

FSHB -211G>T stratification for follicle-stimulating hormone treatment of male infertility patients: making the case for a pharmacogenetic approach in genetic functional secondary hypogonadism

artículo científico

Further insights into the role of the annexin A5 M2 haplotype as recurrent pregnancy loss factor, assessing timing of miscarriage and partner risk

artículo científico publicado en 2013

Gene expression patterns in relation to the clinical phenotype in Klinefelter syndrome

artículo científico publicado en 2014

Genetik der männlichen Infertilität

artículo científico publicado en 2008

Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1

artículo científico publicado en 2010

Independent association of the M2/ANXA5 haplotype with recurrent pregnancy loss (RPL) in PCOS patients

artículo científico publicado en 2013

Intratesticular testosterone is increased in men with Klinefelter syndrome and may not be released into the bloodstream owing to altered testicular vascularization– a preliminary report

artículo científico publicado en 2014

Is the FSHR 2039A>G variant associated with susceptibility to testicular germ cell cancer?

artículo científico publicado en 2017

Minutes of the 14th European workshop on molecular and cellular endocrinology of the testis

scientific article published on 21 July 2006

Minutes of the 5th meeting of the International Network for Young Researchers in Male Fertility.

artículo científico publicado en 2012

Mosaicism for an unbalanced Y;21 translocation in an infertile man: a case report

artículo científico publicado en 2013

Novel genetic aspects of Klinefelter's syndrome.

artículo científico publicado en 2010

Paternal and maternal carriage of the annexin A5 M2 haplotype are equal risk factors for recurrent pregnancy loss: a pilot study.

artículo científico publicado en 2012

Polymorphisms of the luteinizing hormone/chorionic gonadotropin receptor gene: association with maldescended testes and male infertility

artículo científico publicado en 2008

Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency

artículo científico publicado en 2014

Restoration of fertility by gonadotropin replacement in a man with hypogonadotropic azoospermia and testicular adrenal rest tumors due to untreated simple virilizing congenital adrenal hyperplasia

artículo científico publicado en 2014

Role of syndecan-3 polymorphisms in obesity and female hyperandrogenism.

artículo científico publicado en 2009

Rotational motion and rheotaxis of human sperm do not require functional CatSper channels and transmembrane Ca2+ signaling

scientific article published on 19 January 2020

Single-cell RNA-seq unravels alterations of the human spermatogonial stem cell compartment in patients with impaired spermatogenesis

artículo científico publicado en 2021

The Ca2+ channel CatSper is not activated by cAMP/PKA signaling but directly affected by chemicals used to probe the action of cAMP and PKA

artículo científico publicado en 2020

The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome

artículo científico publicado en 2014

The X chromosome and male infertility

artículo científico publicado en 2019

The future of testis research is turning 6! Six years of international network for young researchers in male fertility.

artículo científico publicado en 2012

The haplotype M2 of the ANXA5 gene is not associated with antitrophoblast antibodies

artículo científico publicado en 2013

The presence of germ cells in the semen of azoospermic, cryptozoospermic and severe oligozoospermic patients: stringent flow cytometric analysis and correlations with hormonal status.

artículo científico publicado en 2007

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

artículo científico publicado en 2017

Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure

artículo científico publicado en 2021

Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.

artículo científico publicado en 2013

Lista de obras de Frank Tüttelmann

A common haplotype of protamine 1 and 2 genes is associated with higher sperm counts.

A de novo paradigm for male infertility

A germ cell-specific ageing pattern in otherwise healthy men

A global approach to addressing the policy, research and social challenges of male reproductive health

Action of steroids and plant triterpenoids on CatSper Ca2+ channels in human sperm

Anti-Müllerian hormone in men with normal and reduced sperm concentration and men with maldescended testes

Aquaporins in the human testis and spermatozoa - identification, involvement in sperm volume regulation and clinical relevance

Azoospermia and ring chromosome 9--a case report.

Clinical experience with azoospermia: aetiology and chances for spermatozoa detection upon biopsy

Coiled sperm from infertile patients: characteristics, associated factors and biological implication

Combined Effects of the VariantsFSHB−211G>T andFSHR2039A>G on Male Reproductive Parameters

Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males

Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome.

DMRT1 mutations are rarely associated with male infertility

EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013.

ESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical issues

Effects of the FSH-β-subunit promoter polymorphism -211G->T on the hypothalamic-pituitary-ovarian axis in normally cycling women indicate a gender-specific regulation of gonadotropin secretion.

Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

European Acedemy of Andrology (EAA) GUIDELINES ON KLINEFELTER SYNDROME - Endorsing Organisation: European Society of Endocrinology

FSHB -211G>T stratification for follicle-stimulating hormone treatment of male infertility patients: making the case for a pharmacogenetic approach in genetic functional secondary hypogonadism

Further insights into the role of the annexin A5 M2 haplotype as recurrent pregnancy loss factor, assessing timing of miscarriage and partner risk

Gene expression patterns in relation to the clinical phenotype in Klinefelter syndrome

Genetik der männlichen Infertilität

Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1

Independent association of the M2/ANXA5 haplotype with recurrent pregnancy loss (RPL) in PCOS patients

Intratesticular testosterone is increased in men with Klinefelter syndrome and may not be released into the bloodstream owing to altered testicular vascularization– a preliminary report

Is the FSHR 2039A>G variant associated with susceptibility to testicular germ cell cancer?

Minutes of the 14th European workshop on molecular and cellular endocrinology of the testis

Minutes of the 5th meeting of the International Network for Young Researchers in Male Fertility.

Mosaicism for an unbalanced Y;21 translocation in an infertile man: a case report

Novel genetic aspects of Klinefelter's syndrome.

Paternal and maternal carriage of the annexin A5 M2 haplotype are equal risk factors for recurrent pregnancy loss: a pilot study.

Polymorphisms of the luteinizing hormone/chorionic gonadotropin receptor gene: association with maldescended testes and male infertility

Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency

Restoration of fertility by gonadotropin replacement in a man with hypogonadotropic azoospermia and testicular adrenal rest tumors due to untreated simple virilizing congenital adrenal hyperplasia

Role of syndecan-3 polymorphisms in obesity and female hyperandrogenism.

Rotational motion and rheotaxis of human sperm do not require functional CatSper channels and transmembrane Ca2+ signaling

Single-cell RNA-seq unravels alterations of the human spermatogonial stem cell compartment in patients with impaired spermatogenesis

The Ca2+ channel CatSper is not activated by cAMP/PKA signaling but directly affected by chemicals used to probe the action of cAMP and PKA

The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome

The X chromosome and male infertility

The future of testis research is turning 6! Six years of international network for young researchers in male fertility.

The haplotype M2 of the ANXA5 gene is not associated with antitrophoblast antibodies

The presence of germ cells in the semen of azoospermic, cryptozoospermic and severe oligozoospermic patients: stringent flow cytometric analysis and correlations with hormonal status.

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure

Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.