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Research Article and Other Publication Titles


Year of Publication

Transition to Adulthood for Individuals with X and Y VariationsBooth and Cover2024
Evidence-based recommendations for delivering the diagnosis of X&Y chromosome multisomies in children, adolescents, and young adults: an integrative reviewRiggan, Ormond, Allyse, and Close2024
Supernumerary sex chromosome abnormalities – new developments and future trajectories - A summary of the 2022 3rd International Workshop on Klinefelter syndrome, XYY and Trisomy XGravholt, Ferlin, Gromoll, Juul, Raznahan, Van Rijn, Rogol, Skakkebæk, Tartaglia, and Swaab2023
Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort studySánchez, Montalbano, Vaez, Krebs, Byberg-Grauholm, Mortensen, Børglum, Hougaard, Nordentoft, Geschwind, Buil, Schork, Thompson, Raznahan, Helenius, Werge, and Ingason2023
Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndromeRau, Schaffer, Liu, Fish, Mankiw, Xenophontos, Clasen, Joseph, Thurm, Blumenthal, Bassett, and Torres2023
Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counselingJodarski, Duncan, Torres, Gore, Raznahan, and Similuk2023
Increasing Awareness of Sex Chomosome TrisomiesTorres, Raznahan, Blumenthal, Meerschaert, and Colella2023
Association of Supernumerary Sex Chromosome Aneuploidies With Venous ThromboembolismBerry, Finucane, Myers, Abril, Kirchner, Ledbetter, Martin, and Oetjens2023
Quality of life in men with Klinefelter Syndrome – a multicentre studyFranik, Fleischer, Kortmann, Stikkelbroek, D’Hauwers, Bouvattier, Slowikowska-Hilczer, Grunenwald, Van de Grift, Cartault, Richter-Unruh, Reisch, Thyen, IntHout, and Claahsen-van der Grinten2023
The emotional journey of adapting to prenatally identified trisomy XThompson, Tisher, Davis, Miller, Kirk, Tartaglia, and Howell2023
Sex chromosome aneuploidies and fertility: 47,XXY, 47,XYY, 47,XXX and 45,X/47,XXXRogol2023
Executive Dysfunction in Klinefelter Syndrome: Associations With Brain Activation and Testicular FailureFoland-Ross, Ghasemi, Lozano Wun, Aye, Kowal, Ross, and Reiss2023
Exploring Academic and Character Strengths in Students with Sex Chromosome AneuploidiesThompson, Davis, Takamatsu, Howell, and Tartaglia2022
Early Preventive Intervention for Young Children With Sex Chromosome Trisomies (XXX, XXY, XYY): Supporting Social Cognitive Development Using a Neurocognitive Training Program Targeting Facial Emotion UnderstandingBouw, Swaab, and van Rijn2022
‘I Wish the School Had a Better Understanding of the Diagnosis’: parent perspectives on educational needs of students with SCAsThompson, Stinnett, Tartaglia, Davis, and Janusz2022
Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD)Bouw, Swaab, Tartaglia, Cordeiro, and van Rijn2022
Detection and characterization of male sex chromosome abnormalities in the UK Biobank studyZhao, Gardner, Tuke, Zhang, Pietzner, Koprulu, Jia, Ruth, Wood, Beaumont, Tyrrell, Jones, Lango Allen, Day, Langenberg, Frayling, Weedon, Perry, Ong, and Murray2022
Supporting students with sex chromosome aneuploidies in educational settings: Results of a nationwide surveyThompson, Davis, Janusz, Frith, Pylead, Howell, Boada, Wilson, and Tartaglia2022
Emotional reactivity and expressivity in young children with sex chromosome trisomies: evidence from psychophysiological and observational dataKuiper, Swaab, Tartaglia, Cordeiro, and van Rijn2022
Klinefelter syndrome: going beyond the diagnosisButler, Srirangalingam, Faithfull, Sangster, Senniappan, and Mitchell2022
Early symptoms of autism spectrum disorder (ASD) in 1–8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attentionBouw, Swaab, Tartaglia, Wilson, van der Velde, and van Rijn2022
Association between domains of quality of life and patients with Klinefelter syndrome: a systematic reviewMehmet, Gillard, Jayasena, and Llahana2022
Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordanceHowell, Davis, Thompson, Brown, Tanda, Kowal, Alston, Ross, and Tartaglia2022
Klinefelter Syndrome: What should we tell prospective parents?White, Zacharin, Fawcett, and McGillivray2022
Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalitiesGuo, Cai, Lin, Xue, Huang, and Xu2022
Delaying testicular sperm extraction in 47,XXY Klinefelter patients does not impair the sperm retrieval rate, and AMH levels are higher when TESE is positiveRenault, Labrune, D’Estaing, Cuzin, Lapoirie, Benchaib, Lornage, Soignon, De Souza, Dijoud, Fraison, Pral-Chatillon, Bordes, Sanlaville, Schluth-Bolard, Salle, Ecochard, Lejeune, and Plotton2022
Early impact of X- and Y-chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1–2-year-old childrenBouw, Swaab, Tartaglia, Jansen, and Van Rijn2022
Triple X syndrome: Psychiatric disorders and impaired social functioning as a risk factorOtter, Campforts, Stumpel, Van Amelsvoort, and Drukker2022
Population-based Assessment of Cardiometabolic-related Diagnoses in Youth With Klinefelter Syndrome: A PEDSnet StudyDavis, Nokoff, Furniss, Pyle, Valentine, Fechner, Ikomi, Magnusen, Nahata, Vogiatzi, and Dempsey2022
Recommendations to improve the patient experience and avoid bias when prenatal screening/testingMeredith, Brackett, Diaz, Freeman, Huggins, Khan, Leach, Levitz, Michie, Onufer, Skotko, Smith, White, Waller, and Ayers2022
What’s missing in sex chromosome aneuploidies? Representation and inclusionMehmet, McDonald, Saldarriaga, Pineros-Leano, and Dwyer2022
Variegation of autism related traits across seven neurogenetic disordersLee, Niu, Zhang, Clasen, Kozel, Smith, Wallace, and Raznahan2022
Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic ReviewRicciardi, Cammisa, Bove, Picchiotti, Spaziani, Isidori, Aceti, Giacchetti, Romani, and Sogos2022
In Vitro Propagation of XXY Undifferentiated Mouse Spermatogonia: Model for Fertility Preservation in Klinefelter Syndrome PatientsGaldon, Deebel, Zarandi, Pettenati, Kogan, Wang, Swerdloff, Atala, Lue, and Sadri-Ardekani2021
Recent advancement in the treatment of boys and adolescents with hypogonadismRey2021
Social Management Training in Males With 47,XXY (Klinefelter Syndrome): A Pilot Study of a Neurocognitive-Behavioral Treatment Targeting Social, Emotional, and Behavioral ProblemsMartin, Van Rijn, Bierman, and Swaab2021
Social functioning and emotion recognition in adults with triple X syndromeOtter, Crins, Campforts, Stumpel, Van Amelsvoort, and Vingerhoets2021
Incidence of gynaecomastia in Klinefelter syndrome adolescents and outcome of testosterone treatmentButler2021
Cortical gray matter structure in boys with Klinefelter syndromeFoland-Ross, Gil, Shrestha, Chromik, Hong, and Reiss2021
The Need for Greater Awareness of Sex Chromosome VariationsTorres2021
Onset and progression of puberty in Klinefelter syndromeTanner, Miettinen, Hero, Toppari, and Raivio2021
Early developmental impact of sex chromosome trisomies on ADHD symptomology in young childrenKuiper, Swaab, Tartaglia, and van Rijn2021
The comorbidity landscape of 47,XXX syndrome: A nationwide epidemiologic studyBerglund, Stochholm, and Gravholt2021
Patterns of psychopathology and cognition in sex chromosome aneuploidyRau, Whitman, Schauder, Gogate, Lee, Kenworthy, and Raznahan2021
Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implicationsHowell, Buchanan, Davis, Miyazawa, Furuta, Tartaglia, and Nguyen2021
Sex Chromosome Dosage Effects on White MatterWarling, Yavi, Clasen, Blumenthal, Lalonde, Raznahan, and Liu2021
Sperm retrieval rates in non-mosaic Klinefelter patients undergoing testicular sperm extraction: what expectations do we have in the real-life setting?Boeri et al2020
Neuropsychological functions, sleep, and mental health in adults with Klinefelter syndromeFjermestad, Huster, Thunberg, Stokke, Gravholt, and Solbakk2020
Morbidity in Klinefelter syndrome and the effect of testosterone treatmentChang, Skakkebæk, Davis, and Gravholt2020
Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for interventionTartaglia, Howell, Davis, Kowal, Tanda, Brown, Boada, Alston, Crawford, Thompson, Van Rijn, Wilson, Janusz, and Ross2020
The epidemiology of sex chromosome abnormalitiesBerglund, Stochholm, and Gravholt2020
Marked Increase in Incident Gynecomastia: A 20-year National Registry Study 1998-2017Koch, Bräuner, Busch, Hickey, and Juul2020
Rare sex chromosome variation 48,XXYY: An integrative reviewBlumling, Martyn, Talboy, and Close2020
European Academy of Andrology (EAA) Guidelines on Klinefelter SyndromeZitzmann, Aksglaede, Corona, Isidori, Juul, T’Sjoen, Kliesch, D’Hauwers, Toppari, Słowikowska-Hilczer, Tüttelmann, and Ferlin2020
Diminished Ovarian Reserve in Girls and Adolescents with Trisomy X SyndromeDavis, Soares, Howell, Cree-Green, Buyers, Johnson, and Tartaglia2020
Metabolic and cardiovascular risk factors in Klinefelter syndromeSpaziani and Radicioni2020
Minipuberty in Klinefelter syndrome: Current status and future directionsAksglaede, Davis, Ross, and Juul2020
Psychological functioning, brain morphology, and functional neuroimaging in Klinefelter syndromeSkakkebæk, Gravholt, Chang, Moore, and Wallentin2020
Executive function in XXY: Comparison of performance-based measures and rating scalesJanusz, Harrison, C. Boada, Cordeiro, Howell, Tartaglia, and R. Boada2020
High prevalence of cardiometabolic risk features in adolescents with 47,XXY/Klinefelter syndromeDavis, DeKlotz, Nadeau, Kelsey, Zeitler, and Tartaglia2020
American Journal of Medical Genetics: Special Issue on sex chromosome aneuploidiesEditors: Gravholt, Tartaglia, Disteche2020
The Expert in the Room: Parental Advocacy for Children with Sex Chromosome AneuploidiesRichardson, Riggan, and Allyse2020
Klinefelter Syndrome: Identifying, characterizing and managing an underdiagnosed condition with serious consequences (CME Course)Sadri and Howards2020
Strategies to improve early diagnosis of Klinefelter syndromeFerlin2020
Infertility considerations in Klinefelter syndrome: From origin to managementDeebel, Bradshaw, and Sadri-Ardekani2020
The behavioral profile of children aged 1–5 years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY)Van Rijn, Tartaglia, Urbanus, Swaab, and Cordeiro2020
From mini‐puberty to pre‐puberty: early impairment of the hypothalamus-pituitary-gonadal axis with normal testicular function in children with non-mosaic Klinefelter syndromeSpaziani, Granato, Liberati, Rossi, Tahani, Pozza, Gianfrilli, Papi, Anzuini, Lenzi, Tarani, and Radicioni2020
Epigenetics and genomics in Klinefelter syndromeSkakkebæk, Viuff, Nielsen, and Gravholt2020
Epigenetic and transcriptomic consequences of excess X-chromosome material in 47,XXX syndrome—A comparison with Turner syndrome and 46,XX femalesNielsen, Trolle, Vang, Hornshøj, Skakkebaek, Hedegaard, Nordentoft, Pedersen, and Gravholt2020
What microRNAs could tell us about the human X chromosomeDi Palo, Siniscalchi, Salerno, Russo, Gravholt and Potenza2020
Male infertility due to testicular disordersSharma, Minhas, Dhillo, and Jayasena2020
A clinical algorithm for management of fertility in adolescents with Klinefelter syndromeMasterson III, Nassaub, and Ramasamya2020
Genetic Counseling and Family Support for Sex Chromosome AneuploidiesHowell and Grand2020
Seizures and Tremor in People with X & Y Chromosome VariationsBerry-Kravis2020
Fertility Guidelines for Klinefelter SyndromeFlannigan, Herati, Kogan, and Sadri-Ardekani2020
Educational Guidelines, IEPs, and School Services for Children with X & Y Chromosome VariationsFrith and Thompson2020
Quality of life in Klinefelter patients on testosterone replacement therapy compared to healthy controls: an observational study on the impact of psychological distress, personality traits, and coping strategiesFabrazzo, Accardo, Abbondandolo, Goglia, Esposito, Sampogna, Catapano, Giugliano, and Pasquali2020
Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome IndividualPattamshetty, Mantri, and Mohan2020
Delivering the Diagnosis of Sex Chromosome Aneuploidy: Experiences and Preferences of Parents and IndividualsJaramillo, Nyquist, Riggan, Egginton, Phelan, and Allyse2019
A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47,XXY, 47,XXX, 47,XYY)Van Rijn2019
Recent advances in managing and understanding Klinefelter syndromeBearelly and Oates2019
Management of cardiovascular complications in Klinefelter syndrome patientsAccardo, Amoresano Paglionico, Di Fraia, Cittadini, Salzano, Esposito, De Bellis, and Pasquali2019
Autism and social anxiety in children with sex chromosome trisomies: an observational studyWilson, King, and Bishop2019
Emotion regulation in adults with Klinefelter syndrome (47,XXY): Neurocognitive underpinnings and associations with mental health problemsVan Rijn and Swaab2019
A placebo-controlled randomized study with testosterone in Klinefelter syndrome: beneficial effects on body compositionGravholt, Høst, Bojesen, Erlandsen, Groth, Kristensen, Grethe Jurik, and Birkebæk2019
Testosterone treatment and association with thrombin generation and coagulation inhibition in Klinefelter syndrome: A cross-sectional studyGravholt, Chang, Biltofta, Skakkebæk, Feddere, Bojesend, Bora, and Münster2019
Changes in the cohort composition of Turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study Gravholt, Berglund, Hansen Viuff,Skakkebæk, Chang, and Stochholm2019
Hypogonadotropic Hypogonadism, Delayed Puberty and Risk for Neurodevelopmental DisordersGotby, Söder, Frisén, Serlachius, Bölte, Almqvist, Larsson, Lichtenstein, and Tammimies2019
Klinefelter syndrome and testosterone treatment: a national cohort study on thrombosis riskGravholt, Chang, Christiansen, Bojesen, Juul, and Münster2019
Sperm recovery and ICSI outcomes in men with non-obstructive azoospermia: a systematic review and meta-analysisCorona et al2019
The Lived Experience of Klinefelter Syndrome: A Narrative Review of the LiteratureHanna, Cheetham, Fearon, Herbrand, Hudson, McEleny, Quinton, Stevenson, and Wilkes2019
Fertility Considerations in Adolescent Klinefelter Syndrome: Current Practice PatternsBhasin and Oates2019
Fertility in Adolescents With Klinefelter Syndrome: A Survey of Current Clinical PracticeZganjar, Nangia, Sokol, Ryabets, and Samplaski2019
Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidiesGreen, Flash, and Reiss2019
Fertility management of Klinefelter syndromeFainberg, Hayden, and Schlegel2019
A review of neurocognitive functioning of children with sex chromosome trisomies: Identifying targets for early interventionVan Rijn, Urbanus, and Swaab2019
Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associationsLin, Santoro, High, Goldenberg, and Gutmark-Little2019
Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literatureTang, Lin, Guo, Hou, and Yu2019
Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndromeJoseph, Farmer, Chlebowski, Henry, Fish, Makiw, Xenophontos, Clasen, Saul, Seidlitz, Blumenthal, Torres, Thurm, and Raznahan2018
Klinefelter Syndrome. The Effects of Early Androgen Therapy on Competence and Behavioral PhenotypeFlannigan, Patel et al2018
Testosterone in Infants with XXYTartaglia, Majidi, and Davis2018
Neuroses and neuroticism: What’s the difference?Felman2018
Testosterone Therapy in Men With Hypogonadism: An Endocrine Society Clinical Practice GuidelineBhasin, Brito, Cunningham, Hayes, Hodis, Matsumoto, Snyder, Swerdloff, Wu, and Yialamas2018
Klinefelter Syndrome – Integrating Genetics, Neuropsychology and EndocrinologyGravholt, Chang, Wallentin, Fedder, Moore, and Skakkebæk2018
Klinefelter syndrome: more than hypogonadismKanakis and Nieschlag2018
Vocal and gestural productions of 24-month-old children with sex chromosome trisomiesZampini, Draghi, Silibello, Dall’Ara, Rigamonti, Suttora, Zanchi, Salerni, Lalatta, and Vizziello2018
Everything You Never Knew About the ADHD BrainKravit2018
DNA hypermethylation and differential gene expression associated with Klinefelter syndromeSkakkebæk, Nielsen, Trolle, Vang, Hornshøj, Hedegaard, Wallentin, Bojesen, Hertz, Fedder, Østergaard, Pedersen, and Gravholt2018
Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagementSkakkebæk, Moore, Pedersen, Bojesen, Kristensen, Fedder, Hertz, Østergaard, Wallentin, and Gravholt2018
Salivary testosterone in relation to social cognition and social anxiety in children and adolescents with 47,XXY (Klinefelter syndrome)Van Rijn2018
Oxandrolone Treatment Results in an Increased Risk of Gonadarche in Prepubertal Boys With Klinefelter SyndromeDavis, Lahlou, Cox-Martin, Kowal, Zeitler, and Ross2018
Androgen treatment effects on hippocampus structure in boys with Klinefelter SyndromeFoland-Ross, Ross, and Reiss2018
The Association of Motor Skills & Adaptive Functioning in XXY/Klinefelter & XXYY SyndromesTartaglia, Davis, Martin, Cordeiro, and Richardson2018
Counseling in Pediatric Populations at Risk for Infertility and/or Sexual Function ConcernsNahata, Quinn, and Tishelman2018
Research Suggests a Cure for NeuroticismWhitbourne2017
Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual functionSkakkebæk, Moore, Chang, Fedder, and Gravholt2017
Fertility achieved through in vitro fertilization in a male patient with 48,XXYY syndromeLiu, Zhao, Hong, Mao, Yang, Zhang, and Jiang2017
Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter SyndromeRoss, Tartaglia, Davis, Reiss, et al2017
Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter syndrome, XYY, and XXYYTartaglia, Wilson, Miller, Rafalko, Cordeiro, Davis, Hessl and Ross2017
Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysisCorona, Pizzocaro, Lanfranco, Garolla, Pelliccione, Vignozzi, Ferlin, Foresta, Jannini, Maggi, Lenzi, Pasquali, and Francavilla2017
Oxandrolone Yields Short-term Benefits in Treating Klinefelter’s SyndromeDavis, Cox-Martin, Bardsley, Kowal, Zeitler, and Ross2016
Advances in the Interdisciplinary Care of Children with Klinefelter SyndromeDavis, Howell, Wilson, Tanda, Ross, Zeitler, and Tartaglia2016
The Klinefelter syndrome: current management and research challengesNieschlag, Ferlin, Gravholt, Gromoll, Kohler, Lejeune, Rogol, and Wistuba2016
Expanding the Phenotype of Triple X Syndrome: A Comparison of Prenatal Versus Postnatal DiagnosisWigby, D’Epagnier, Howell, Reicks, Wilson, Cordeiro, and Tartaglia2016
ACMG Releases Updated Position Statement on Noninvasive Prenatal Screening (NIPS) for Detection of Fetal Aneuploidy: Addresses Questions About Expanded Role of NIPS in Prenatal PracticeACMG2016
The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and AdultsTurriff, Macnamara, Levy, and Biesecker2016
The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndromeSkakkebæk, Moore, Pedersen, Bojesen, Kristensen, Fedder, Laurberg, Hertz, Østergaard, Wallentin, and Gravholt2016
The Brain-Behavior Connection In Children with ADHDNigg2016
Secrets of the ADHD Brain: Why We Think, Act, and Feel the Way We DoDodson2016
What are the treatments for symptoms in Klinefelter syndrome (KS)?NIH2016
Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadismBonomi, Rochira, Pasquali, Balercia, Jannini, and Ferlin2016
Cognitive and behavioral profile of 47,XXX (Trisomy X): A research approachVan Rijn2015
Phenotype and Adverse Quality of Life in Boys with Klinefelter SyndromeClose, Fennoy, Smaldone, and Reame2015
50 Shades of Gray: Depression Common in Borderline TestosteroneTucker2015
Testis Development and Reproductive Options in Males with Klinefelter SyndromeDavis, Rogol, and Ross2015
Executive dysfunction and the relation with behavioral problems in children with 47,XXY and 47,XXXVan Rijn and Swaab2015
In the Dark: Challenges of Caring for Sons with Klinefelter SyndromeClose, Sadler, and Grey2015
Sex Isn’t Chromosomes: The Story of a Century of Misconceptions about X & YSteadman2015
Brain and behavior in 48, XXYY syndromeHanley, Blumenthal, Raitano Lee, Baker, Clasen, and Giedd2015
Neural systems for social cognition: gray matter volume abnormalities in boys at high genetic risk of autism symptoms, and a comparison with idiopathic autism spectrum disorderVan Rijn, Swaab, Goddard, and Rombouts2015
FDA Panel Rejects New Oral Testosterone Replacement DrugHand2014
Latest Testosterone Study Finds No Heart Attack RiskMelville2014
Putting the 'T'rouble in Testosterone Therapy?Vega2014
‘Striking’ Impact of Bullying on Teens’ Mental, Physical HealthBrauser2014
Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorderVan Rijn, Stockmann, van Buggenhout, van Ravenswaaij-Arts, and Swaab 2014
Executive Function: What Does It Mean? Why Is It Important? How Can We Help?Katz2014
Brain morphology in children with 47,XYY syndrome: a voxeland surface-based morphometric studyLepage, Hong, Raman, Marzelli, Roeltgen, Lai, Ross, and Reiss2014
Growing Up with XYYUnique - Rare Chromosome Disorder Support Group2014
Cognitive and neurological aspects of sex chromosome aneuploidiesHong and Reiss2014
Autism spectrum disorders in XYY syndrome: two new cases and systematic review of the literatureMargari, Lamanna, Craig, Simone, and Gentile2014
Exercising the Mind to Treat Attention DeficitsGoleman2014
Long-term testosterone therapy does not increase the risk of prostate cancerElsevier Health Sciences2014
The Sexual Politics of AutismHughes2014
Social Attention, Affective Arousal and Empathy in Men with Klinefelter Syndrome (47,XXY): Evidence from Eyetracking and Skin ConductanceVan Rijn, Barendse, van Goozen, and Swaab2014
Surgical management of male infertility: an updateVelasquez and Tanrikut2014
Medical treatment of male infertilityDabaja and Schlegel2014
Genetic evaluation of male infertilityWosnitzer2014
Management of Klinefelter syndrome during transitionGies, Unuane, Velkeniers, and De Schepper2014
Feminized behavior and brain gene expression in a novel mouse model of Klinefelter SyndromeNgun, Ghahramani, Creek, Williams-Burris, Barseghyan, Itoh, Sánchez, McClusky, Sinsheimer, Arnold, and Vilain2014
When to ask male adolescents to provide semen sample for fertility preservation?Schlegel et al2014
Seeing X Chromosomes in a New LightZimmer2014
Club helps teens learn how to mix and mingleGrace2014
Clinical research: Extra X impairs awareness of others’ mindsYandell2014
Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patientsSamplaski, Lo, Grober, Millar, Dimitromanolakis, and Jarvi2014
Video Game ‘Addiction’ More Likely With Autism, ADHDGordon2013
Association of Testosterone Therapy With Mortality, Myocardial Infarction, and Stroke in Men With Low Testosterone LevelsVigen, O’Donnell, Barón, et al2013
FDA Panel Split on Safety of Long-Acting TestosteroneBrooks2013
First Brain-Wave Test for ADHD Approved by FDALowes2013
47,XYY Syndrome: Clinical Phenotype and Timing of AscertainmentBardsley, Kowal, Levy, Gosek, Ayari, Tartaglia, Lahlou, Winder, Grimes, and Ross2013
A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosisBourke, Snow, Herlihy, Amor, and Metcalfe2013
Timing of Diagnosis of 47,XXY and 48,XXYY: A Survey of Parent ExperiencesVisootsak, Ayari, Howell, Lazarus, and Tartaglia2013
Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreatedNieschlag2013
Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profileSkakkebæk, Gravholt, Rasmussen, Bojesen, Jensen, Fedder, Laurberg, Hertz, Ostergaard, Pedersen, and Wallentin2013
Mosaic double aneuploidy: Down syndrome and XYYParihar, Koshy, and Srivastava2013
Language Delay in Boys? Consider Klinefelter SyndromeJancin2012
Living with Klinefelter Syndrome (47,XXY) Trisomy X (47, XXX) and 47, XYY: A Guide for Families and Individuals Affected by Extra X and Y Chromosome VariationsCover2012
Klinefelter’s syndrome—a diagnosis mislaid for 46 yearsAnonymous patient, Bhartia, and Ramachandran2012
Sex chromosomes and the brain: a study of neuroanatomy in XYY syndromeBryant, Hoeft, Lai, Lackey, Roeltgen, Ross, and Reiss2012
Behavioral and Social Phenotypes in Boys With 47,XYY Syndrome or 47,XXY Klinefelter SyndromeRoss, Roeltgen, Kushner, Zinn, Reiss, Zeger Bardsley, McCauley, and Tartaglia2012
The social brain in psychiatric and neurological disordersKennedy and Adolphs2012
Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYYTartaglia, Ayari, Hutaff-Lee, and Boada2012
Reduced artery diameters in Klinefelter syndromeForesta, Caretta, Palego, Ferlin, Zuccarello, Lenzi, and Selice2012
Vulnerability for autism traits in boys and men with an extra X chromosome (47,XXY): the mediating role of cognitive flexibilityVan Rijn, Bierman, Bruining, and Swaab2012
Cardiovascular abnormalities in Klinefelter syndromePasquali, Arcopinto, Renzullo, Rotondi, Accardo, Salzano, Esposito, Saldamarco, Isidori, Marra, Ruvolo, Napoli, Bossone, Lenzi, Baliga, Saccà, and Cittadini2012
Clinical review: Klinefelter syndrome - a clinical updateGroth, Skakkebæk, Høst, Gravholt, and Bojesen2012
Executive Function...What is this anyway?Dendy2011
Complexities of HypogonadismMuthalagu2011
EEOC Announces Final Bipartisan Regulations for the ADA Amendments ActEEOC Press Release2011
Guide to Trisomy XErskine2011
Prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparisonHerlihy, and Gillam2011
Thinking outside the square: considering gender in Klinefelter syndrome and 47, XXYHerlihy and Gillam2011
Individualized Education Program (IEP): Summary, Process, and Practical TipsGoodwin Procter and Autism Speaks2011
The psychosocial impact of Klinefelter syndrome and factors influencing quality of lifeHerlihy, McLachlan, Gillam, Cock, Collins, and Halliday2011
IDEA – The Manual for Parents and Students About Special Education Services in TexasThe Arc and Disability Rights Texas2011
Effects of short‐course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndromeSamango‐Sprouse, Gropman, Sadeghin, Kingery, Lutz‐Armstrong, and Rogol2011
New Guide Offers Road Map To IEP ProcessDiament2011
Hypogonadism in the Aging Male Diagnosis, Potential Benefits, and Risks of Testosterone Replacement TherapySurampudi, Wang, and Swerdloff2011
AAP: Guideline Calls for Pre-K ADHD EvaluationBankhead2011
Prevalence and Psychosocial Correlates of Depressive Symptoms Among Adolescents and Adults with Klinefelter SyndromeTurriff, Levy, and Biesecker2011
Neural systems for social cognition in Klinefelter syndrome (47,XXY): evidence from fMRIVan Rijn, Swaab, Baas, de Haan, Kahn, and Aleman2011
48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndromeTartaglia, Ayari, Howell, D’Epagnier, and Zeitler2011
Neuroanatomical phenotype of Klinefelter syndrome in childhood: a voxel-based morphometry studyBryant, Hoeft, Lai, Lackey, Roeltgen, Ross, and Reiss2011
Tantrum Tamer: New Ways Parents Can Stop Bad BehaviorWang2011
How many genomes do you have?Rennie2011
Mother labored to find reason for son’s developmental delaysBoodman2010
Considerations for Androgen Therapy in Children and Adolescents with Klinefelter Syndrome (47, XXY)Tartaglia and Rogol2010
Testosterone Therapy in Men with Androgen Deficiency Syndromes: An Endocrine Society Clinical Practice GuidelineBhasin, Cunningham, Hayes, Matsumoto, Snyder, Swerdloff, and Montori2010
Assessing the risks and benefits of diagnosing genetic conditions with variable phenotypes through population screening: Klinefelter syndrome as an exampleHerlihy, Halliday, McLachlan, Cock, and Gillam2010
What is Intersex?Organisation Intersex International Australia Limited2010
Postnatal screening for Klinefelter syndrome: is there a rationale?Herlihy, Gillam, Halliday, and McLachlan2010
Representations of Klinefelter SyndromeNoble2010
Sex Chromosome Aneuploidies (from The Handbook of Pediatric Neuropsychology)Wilson, Bennett, Howell, and Tartaglia2010
A Review of Trisomy X (47, XXX)Tartaglia, Howell, Sutherland, Wilson, and Wilson2010
Anatomic magnetic resonance imaging of the developing child and adolescent brain and effects of genetic variationGiedd, Stockman, Weddle, Liverpool, Alexander-Bloch, Wallace, Lee, Lalonde, and Lenroot2010
Considerations for Androgen Therapy in Children and Adolescents with Klinefelter Syndrome (47, XXY)Rogol and Tartaglia2010
Role of the X Chromosome in Social Behavioural Dysfunction and Autism-like BehaviourVan Rijn, Swaab, Bierman, and Zijlstra2010
Social Function in Multiple X and Y Chromosome Disorders: XXY, XYY, XXYY, XXXYVisootsak and Graham2009
The psychological and social impact of Klinefelter’s SyndromeMorris, Jackson, and Hancock2009
Tremor in 48,XXYY SyndromeTartaglia, Borodyanskya, and Hall2009
An Extra X or Y Chromosome: Contrasting the Cognitive and Motor Phenotypes in Childhood in Boys with 47,XYY Syndrome or 47,XXY Klinefelter SyndromeRoss, Zeger, Kushner, Zinn, and Roeltgen2009
The Cognitive Phenotype in Klinefelter Syndrome: A Review of the Literature Including Genetic and Hormonal FactorsTartaglia, Boada, Janusz, and Hutaff-Lee2009
Structural and functional neuroimaging in Klinefelter (47,XXY) syndrome: a review of the literature and preliminary results from a functional magnetic resonance imaging study of languageSteinman, Ross, Lai, Reiss, and Hoeft2009
Triple X syndrome: a review of the literatureOtter, Schrander-Stumpel, and Curfs2009
A New Look at XXYY Syndrome: Medical and Psychological FeaturesTartaglia, Davis, Hench, Nimishakavi, Beauregard, Reynolds, Fenton, Albrecht, Ross, Visootsak, Hansen, and Hagerman2008
XYY Study Day ReportUnique - Rare Chromosome Disorder Support Group2008
Understanding and Modifying the Behavior of Boys with XXYY: A Guide for Parents and Professionals Riley2007
Testosterone DeficiencyGordon2006
Morbidity in Klinefelter Syndrome: A Danish Register Study Based on Hospital Discharge DiagnosesBojesen, Juul, Birkebæk, and Gravholt2006
Unique - XYYUnique - Rare Chromosome Disorder Support Group2006
When It’s Not Just ADHD: Uncovering Comorbid ConditionsSilver2006
Klinefelter's syndrome (karyotype 47, XXY) and schizophrenia-spectrum pathologyVan Rijn, Aleman, Swaab, and Kahn2006
Klinefelter syndrome and other sex chromosomal aneuploidiesVisootsak and Graham2006
The structural brain correlates of cognitive deficits in adults with Klinefelter’s syndromeItti, Gaw Gonzalo, Pawlikowska-Haddal, Boone, Mlikotic, Itti, Mishkin, and Swerdloff2006
Puberty-related influences on brain developmentGiedd, Clasen, Lenroot, Greenstein, Wallace, Ordaz, Molloy, Blumenthal, Tossell, Stayer, Samango-Sprouse, Shen, Davatzikos, Merke, and Chrousos2006
Cancer Incidence and Mortality in Men with Klinefelter Syndrome: A Cohort StudySwerdlow, Schoemaker, Higgins, Wright, and Jacobs2005
Early Androgen Deficiency in Infants and Young Boys with 47,XXY Klinefelter SyndromeRoss, Samango-Sprouse, Lahlou, Kowal, Elder, and Zinn2005
Mortality in Patients with Klinefelter Syndrome in Britain: A Cohort StudySwerdlow, Higgins, Schoemaker, Wright, and Jacobs2005
Klinefelter’s syndrome (XXY) as a genetic model for psychotic disordersDeLisi, Maurizio, Svetina, Ardekani, Szulc, Nierenberg, Leonard, and Harvey2005
Inhibin B and Anti-Müllerian Hormone, But Not Testosterone Levels, Are Normal in Infants with Nonmosaic Klinefelter SyndromeLahlou, Fennoy, Carel, and Roger2004
Learning Needs of Boys With KS - Information for Teachers & ParentsCollingridge2004
Neurobehavioral and Psychosocial Issues in Klinefelter SyndromeGeschwind and Dykens2004
IEP and Lesson Plan Development Handbook of Specially Designed Instruction and Supplementary Aids and ServicesKentucky Special Education Cooperatives and Kentucky Department of Education2003
What parents are told after prenatal diagnosis of a sex chromosome abnormality: interview and questionnaire studyAbramsky, Hall, Levitan, and Marteau2001
Disorders of Executive Functions - Civil and Criminal Law ApplicationsHall and Sbordone1993
Klinefelter’s Syndrome: Historical Background and DevelopmentKlinefelter1986