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X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men

The New England journal of medicine, 2015-05, Vol.372 (22), p.2097-2107

2015

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Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

Genetics in medicine, 2020-12, Vol.22 (12), p.1956-1966

2020

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A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene–disease relationships

Human reproduction update, 2021-12, Vol.28 (1), p.15-29

2021

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The ReproGenomics Viewer: a multi-omics and cross-species resource compatible with single-cell studies for the reproductive science community

Bioinformatics (Oxford, England), 2019-09, Vol.35 (17), p.3133-3139

2019

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Initial experience with [18F]DPA-714 TSPO-PET to image inflammation in primary angiitis of the central nervous system

European journal of nuclear medicine and molecular imaging, 2020-08, Vol.47 (9), p.2131-2141

2020

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Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation

The Journal of clinical investigation, 2024-01, Vol.134 (1), p.1-16

2024

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A GWAS in Idiopathic/Unexplained Infertile Men Detects a Genomic Region Determining Follicle-Stimulating Hormone Levels

The journal of clinical endocrinology and metabolism, 2022-07, Vol.107 (8), p.2350-2361

2022

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Human INHBB Gene Variant (c.1079T>C:p.Met360Thr) Alters Testis Germ Cell Content, but Does Not Impact Fertility in Mice

Endocrinology (Philadelphia), 2022-03, Vol.163 (3), p.1

2022

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Genetic signature of differentiated thyroid carcinoma susceptibility: a machine learning approach

European thyroid journal, 2022-10, Vol.11 (5), p.1-12

2022

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MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility

European journal of endocrinology, 2017-11, Vol.177 (5), p.R249-R259

2017

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Lower Incidence of M2/ANXA5 Carriage in Recurrent Pregnancy Loss Patients With Elevated Lipoprotein(a) Levels

Clinical and applied thrombosis/hemostasis, 2014-10, Vol.20 (7), p.706-709

2014

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

Journal of assisted reproduction and genetics, 2013-12, Vol.30 (12), p.1553-1558

2013

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Gene Expression Patterns in Relation to the Clinical Phenotype in Klinefelter Syndrome

The journal of clinical endocrinology and metabolism, 2015-03, Vol.100 (3), p.E518-E523

2015

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Combined Effects of the Variants FSHB −211G>T and FSHR 2039A>G on Male Reproductive Parameters

The journal of clinical endocrinology and metabolism, 2012-10, Vol.97 (10), p.3639-3647

2012

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Reply: CFTR analysis should not be offered to all patients with unexplained azoospermia in the presence of normal gonadotropin levels

Human reproduction (Oxford), 2021-06, Vol.36 (7), p.2067-2068

2021

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Pituitary response to GnRH stimulation tests in different FSHB-211 G/T genotypes

Human reproduction (Oxford), 2021-04, Vol.36 (5), p.1376-1382

2021

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European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology

Andrology (Oxford), 2021-01, Vol.9 (1), p.145-167

2021

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How exome sequencing improves the diagnostics and management of men with non‐syndromic infertility

Andrology (Oxford), 2024-08

2024

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EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: State of the art 2023

Andrology (Oxford), 2024-03, Vol.12 (3), p.487-504

2024

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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

The journal of clinical endocrinology and metabolism, 2013-01, Vol.98 (1), p.E82-E86

2013

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The Male Fertility Gene Atlas: a web tool for collecting and integrating OMICS data in the context of male infertility

Human reproduction (Oxford), 2020-09, Vol.35 (9), p.1983-1990

2020

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A germ cell‐specific ageing pattern in otherwise healthy men

Aging cell, 2020-10, Vol.19 (10), p.e13242-n/a

2020

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Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility

Human reproduction (Oxford), 2023-07, Vol.38 (7), p.1412-1423

2023

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FSHB −211 G>T Polymorphism as Predictor for TESE Success in Patients With Unexplained Azoospermia

The journal of clinical endocrinology and metabolism, 2019-06, Vol.104 (6), p.2315-2324

2019

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Linking human Dead end 1 (DND1) variants to male infertility employing zebrafish embryos

Human reproduction (Oxford), 2023-04, Vol.38 (4), p.655-670

2023

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X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men

Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene–disease relationships

The ReproGenomics Viewer: a multi-omics and cross-species resource compatible with single-cell studies for the reproductive science community

Initial experience with [18F]DPA-714 TSPO-PET to image inflammation in primary angiitis of the central nervous system

Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation

A GWAS in Idiopathic/Unexplained Infertile Men Detects a Genomic Region Determining Follicle-Stimulating Hormone Levels

Human INHBB Gene Variant (c.1079T>C:p.Met360Thr) Alters Testis Germ Cell Content, but Does Not Impact Fertility in Mice

Genetic signature of differentiated thyroid carcinoma susceptibility: a machine learning approach

MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility

Lower Incidence of M2/ANXA5 Carriage in Recurrent Pregnancy Loss Patients With Elevated Lipoprotein(a) Levels

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

Gene Expression Patterns in Relation to the Clinical Phenotype in Klinefelter Syndrome

Combined Effects of the Variants FSHB −211G>T and FSHR 2039A>G on Male Reproductive Parameters

Reply: CFTR analysis should not be offered to all patients with unexplained azoospermia in the presence of normal gonadotropin levels

Pituitary response to GnRH stimulation tests in different FSHB-211 G/T genotypes

European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology

How exome sequencing improves the diagnostics and management of men with non‐syndromic infertility

EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: State of the art 2023

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

The Male Fertility Gene Atlas: a web tool for collecting and integrating OMICS data in the context of male infertility

A germ cell‐specific ageing pattern in otherwise healthy men

Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility

FSHB −211 G>T Polymorphism as Predictor for TESE Success in Patients With Unexplained Azoospermia

Linking human Dead end 1 (DND1) variants to male infertility employing zebrafish embryos

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