Results 11 to 20 of about 14,442 (216)
Clinical Case ReportsWe report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
Anna Bolzon +5 more
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Klinefelter syndrome in combination with familial male-limited precocious puberty (clinical case)
Mìžnarodnij Endokrinologìčnij Žurnal, 2023 The article presents the results of a literature review on Klinefelter syndrome combined with familial male-limited precocious puberty and describes a clinical case. Klinefelter syndrome is a form of male hypogonadism, characterized by the presence of an
T.V. Sorokman +2 more
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Clinical Case Reports, 2021 Patients with Klinefelter syndrome face many challenges in oral treatment and bone mineralization due to multiple systemic dysfunctions. This case report follows the geometrical treatment with immediate implant loading of an adult male patient with ...
Galina Ciobanu +3 more
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Association of Parental Origin with Clinical Profile in Klinefelter Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2015 Introduction: Several genomic imprinting mechanisms have been postulated to report the parent-of-origin in Klinefelter syndrome. It was stated in the literature, parental origin has an effect on behavioral phenotype of Klinefelter individuals, but the
Ranganath Vallabhajosyula +2 more
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Endocrine Connections, 2023 The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47,XYY syndrome was held in Leiden, the Netherlands, on September 12–14, 2022. Here, we review new data presented at the workshop and discuss scientific and clinical trajectories. We
Claus H Gravholt +9 more
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The Lived Experience of Klinefelter Syndrome: A Narrative Review of the Literature [PDF]
, 2019 open access ...
Cheetham, Tim +8 more
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Beyond the literal meaning of words in children with klinefelter syndrome: two case studies [PDF]
, 2018 Literature on children with Klinefelter Syndrome (KS) points to general linguistic difficulties in both comprehension and production among other cognitive functions, and in the majority of cases, these coexist with an intellectual level within the norms.
Melogno, Sergio +3 more
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Unusual presentation of Klinefelter syndrome
Indian Journal of Endocrinology and Metabolism, 2013 Introduction: Klinefelter syndrome usually presents in the puberty and adulthood with its characteristic features. We report a boy who had Klinefelter syndrome with hypospadias and hydrocele.
Chanchal Das +4 more
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A novel stepwise micro-TESE approach in non obstructive azoospermia [PDF]
, 2016 Background: The purpose of the study was to investigate whether micro-TESE can improve sperm retrieval rate (SRR) compared to conventional single TESE biopsy on the same testicle or to contralateral multiple TESE, by employing a novel stepwise micro ...
Casciani, V +9 more
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Molecular Cytogenetics, 2022 Background Klinefelter syndrome is a common chromosomal (aneuploidy) disorder associated with an extra X chromosome in males. Regardless of numerous studies dedicated to somatic gonosomal mosaicism, Klinefelter syndrome mosaicism (KSM) has not been ...
Svetlana G. Vorsanova +7 more
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