Search Results - "Krausz, C."
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Spermatogenic failure and the Y chromosome
Published in Human genetics (01-05-2017)“…The Y chromosome harbors a number of genes essential for testis development and function. Its highly repetitive structure predisposes this chromosome to…”
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EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state‐of‐the‐art 2013
Published in Andrology (Oxford) (01-01-2014)“…Summary The molecular diagnosis of Y‐chromosomal microdeletions is a common routine genetic test which is part of the diagnostic workup of azoospermic and…”
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Sequencing of a ‘mouse azoospermia’ gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest
Published in Human reproduction (Oxford) (04-06-2019)“…Abstract STUDY QUESTION What is the diagnostic potential of next generation sequencing (NGS) based on a ‘mouse azoospermia’ gene panel in human non-obstructive…”
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European Academy of Andrology guideline Management of oligo‐astheno‐teratozoospermia
Published in Andrology (Oxford) (01-07-2018)“…Summary Background Oligo‐astheno‐teratozoospermia is frequently reported in men from infertile couples. Its etiology remains, in the majority of cases, unknown…”
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Management of male factor infertility: position statement from the Italian Society of Andrology and Sexual Medicine (SIAMS): Endorsing Organization: Italian Society of Embryology, Reproduction, and Research (SIERR)
Published in Journal of endocrinological investigation (01-05-2022)“…Purpose Infertility affects 15–20% of couples and male factors are present in about half of the cases. For many aspects related to the diagnostic and…”
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Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline
Published in European journal of endocrinology (01-06-2022)“…An Endo-European Reference Network guideline initiative was launched including 16 clinicians experienced in endocrinology, pediatric and adult and 2 patient…”
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Oxidative stress, DNA damage and the Y chromosome
Published in Reproduction (Cambridge, England) (01-10-2001)“…Recent advances in understanding of male infertility have implicated two major causative factors, oxidative stress and Y chromosome deletions. A major cause of…”
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EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004
Published in International journal of andrology (01-08-2004)“…Summary Microdeletions of the Y chromosome are the second most frequent genetic cause of spermatogenetic failure in infertile men after the Klinefelter…”
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Safety issues in semen banks during the COVID-19 pandemic: data from a European survey
Published in Journal of endocrinological investigation (01-05-2022)“…Purpose We performed a survey among European semen banks enquiring safety protocols during the COVID-19 pandemic. We report the experience from a center…”
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Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility
Published in Journal of medical genetics (01-05-2014)“…The role of X-linked genes and copy-number variations (CNVs) in male infertility remains poorly explored. Our previous array-CGH analyses showed three…”
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Tall stature and gigantism in transition age: clinical and genetic aspects—a literature review and recommendations
Published in Journal of endocrinological investigation (01-04-2024)“…Purpose Tall stature is defined as height greater than the threshold of more than 2 standard deviations above the average population height for age, sex, and…”
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The European Academy of Andrology (EAA) ultrasound study on healthy, fertile men: Scrotal ultrasound reference ranges and associations with clinical, seminal, and biochemical characteristics
Published in Andrology (Oxford) (01-03-2021)“…Background Scrotal color Doppler ultrasound (CDUS) still suffers from lack of standardization. Hence, the European Academy of Andrology (EAA) has promoted a…”
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Sellar and parasellar lesions in the transition age: a retrospective Italian multi-centre study
Published in Journal of endocrinological investigation (01-01-2023)“…Background Sellar/parasellar lesions have been studied in the adult and paediatric age range, but during the transition age their epidemiology, clinical…”
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The Y chromosome-linked copy number variations and male fertility
Published in Journal of endocrinological investigation (01-05-2011)“…Since the first definition of the AZoospermia Factor (AZF) regions, the Y chromosome has become an important target for studies aimed to identify genetic…”
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Advancing the cause of improved male reproductive health
Published in Andrology (Oxford) (01-11-2019)Get full text
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Klinefelter's syndrome: a clinical and therapeutical update
Published in Sexual development (01-09-2010)“…The prevalence of the Klinefelter's syndrome, ranging between 1/500 and 1/1,000 in the general male population, rises up to 3-4% among infertile males and to…”
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Short‐term FSH treatment and sperm maturation: a prospective study in idiopathic infertile men
Published in Andrology (Oxford) (01-05-2017)“…Summary The standard FSH treatment is based on a 3 months period, after which both quantitative/qualitative improvement of sperm parameters and increased…”
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Y chromosome and male infertility
Published in Andrologia (01-12-2005)Get full text
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Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature
Published in Andrology (Oxford) (01-01-2019)“…Background Normosmic congenital hypogonadotropic hypogonadism (ncHH) is caused by the deficient production, secretion, or action of gonadotropin‐releasing…”
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