Works matching IS 15524868 AND DT 2020 AND VI 184 AND IP 2

Results: 31

Cover Image, Volume 184, Number 2, June 2020.

Published in:: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. i, doi. 10.1002/ajmg.c.31821
Publication type:: Article

Sex chromosome aneuploidies in 2020—The state of care and research in the world.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 197, doi. 10.1002/ajmg.c.31808

By:

Gravholt, Claus H.;
Tartaglia, Nicole;
Disteche, Christine

Publication type:

Article

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 intervention.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 428, doi. 10.1002/ajmg.c.31807

By:

Tartaglia, Nicole;
Howell, Susan;
Davis, Shanlee;
Kowal, Karen;
Tanda, Tanea;
Brown, Mariah;
Boada, Cristina;
Alston, Amanda;
Crawford, Leah;
Thompson, Talia;
Rijn, Sophie;
Wilson, Rebecca;
Janusz, Jennifer;
Ross, Judith

Publication type:

Article

Psychological functioning, brain morphology, and functional neuroimaging in Klinefelter syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 506, doi. 10.1002/ajmg.c.31806

By:

Skakkebæk, Anne;
Gravholt, Claus H.;
Chang, Simon;
Moore, Philip J.;
Wallentin, Mikkel

Publication type:

Article

The epidemiology of sex chromosome abnormalities.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 202, doi. 10.1002/ajmg.c.31805

By:

Berglund, Agnethe;
Stochholm, Kirstine;
Gravholt, Claus Højbjerg

Publication type:

Article

Executive function in XXY: Comparison of performance‐based measures and rating scales.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 469, doi. 10.1002/ajmg.c.31804

By:

Janusz, Jennifer;
Harrison, Caroline;
Boada, Cristina;
Cordeiro, Lisa;
Howell, Susan;
Tartaglia, Nicole;
Boada, Richard

Publication type:

Article

Adaptive functioning in children and adolescents with Trisomy X: An exploratory analysis.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 456, doi. 10.1002/ajmg.c.31803

By:

Wigby, Kristen;
Cordeiro, Lisa;
Wilson, Rebecca;
Angkustsiri, Kathleen;
Simon, Tony J.;
Tartaglia, Nicole

Publication type:

Article

Epigenetics and genomics in Klinefelter syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 216, doi. 10.1002/ajmg.c.31802

By:

Skakkebæk, Anne;
Viuff, Mette;
Nielsen, Morten M.;
Gravholt, Claus H.

Publication type:

Article

Specific learning disorders in sex chromosome aneuploidies: Neural circuits of literacy and mathematics.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 518, doi. 10.1002/ajmg.c.31801

By:

Karipidis, Iliana I.;
Hong, David S.

Publication type:

Article

Genes that escape from X‐chromosome inactivation: Potential contributors to Klinefelter syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 226, doi. 10.1002/ajmg.c.31800

By:

Navarro‐Cobos, Maria Jose;
Balaton, Bradley P.;
Brown, Carolyn J.

Publication type:

Article

Epigenetic and transcriptomic consequences of excess X‐chromosome material in 47,XXX syndrome—A comparison with Turner syndrome and 46,XX females.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 279, doi. 10.1002/ajmg.c.31799

By:

Nielsen, Morten Muhlig;
Trolle, Christian;
Vang, Søren;
Hornshøj, Henrik;
Skakkebæk, Anne;
Hedegaard, Jakob;
Nordentoft, Iver;
Pedersen, Jakob Skou;
Gravholt, Claus Højbjerg

Publication type:

Article

Morbidity in Klinefelter syndrome and the effect of testosterone treatment.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 344, doi. 10.1002/ajmg.c.31798

By:

Chang, Simon;
Skakkebæk, Anne;
Davis, Shanlee M;
Gravholt, Claus H

Publication type:

Article

Neuropsychological functions, sleep, and mental health in adults with Klinefelter syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 482, doi. 10.1002/ajmg.c.31797

By:

Fjermestad, Krister W.;
Huster, Rene;
Thunberg, Christina;
Stokke, Simen;
Gravholt, Claus H.;
Solbakk, Anne‐Kristin

Publication type:

Article

41,XX<sup>Y</sup>* male mice: An animal model for Klinefelter syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 267, doi. 10.1002/ajmg.c.31796

By:

Wistuba, Joachim;
Beumer, Cristin;
Brehm, Ralph;
Gromoll, Jörg

Publication type:

Article

Sex chromosome aneuploidy alters the relationship between neuroanatomy and cognition.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 493, doi. 10.1002/ajmg.c.31795

By:

Warling, Allysa;
Liu, Siyuan;
Wilson, Kathleen;
Whitman, Ethan;
Lalonde, François M.;
Clasen, Liv S.;
Blumenthal, Jonathan D.;
Raznahan, Armin

Publication type:

Article

Minipuberty in Klinefelter syndrome: Current status and future directions.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 320, doi. 10.1002/ajmg.c.31794

By:

Aksglaede, Lise;
Davis, Shanlee M.;
Ross, Judith L.;
Juul, Anders

Publication type:

Article

Integration and reanalysis of transcriptomics and methylomics data derived from blood and testis tissue of men with 47,XXY Klinefelter syndrome indicates the primary involvement of Sertoli cells in the testicular pathogenesis.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 239, doi. 10.1002/ajmg.c.31793

By:

Winge, Sofia B.;
Soraggi, Samuele;
Schierup, Mikkel H.;
Rajpert‐De Meyts, Ewa;
Almstrup, Kristian

Publication type:

Article

Metabolic and cardiovascular risk factors in Klinefelter syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 334, doi. 10.1002/ajmg.c.31792

By:

Spaziani, Matteo;
Radicioni, Antonio F.

Publication type:

Article

Copy number variation burden does not predict severity of neurodevelopmental phenotype in children with a sex chromosome trisomy.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 256, doi. 10.1002/ajmg.c.31791

By:

Mountford, Hayley S.;
Bishop, Dorothy V. M.;
Thompson, Paul A.;
Simpson, Nuala H.;
Newbury, Dianne F.

Publication type:

Article

Testicular function in boys with 47,XYY and relationship to phenotype.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 371, doi. 10.1002/ajmg.c.31790

By:

Davis, Shanlee M;
Bloy, Luke;
Roberts, Timothy P.L.;
Kowal, Karen;
Alston, Amanda;
Tahsin, Aysha;
Truxon, Alyssa;
Ross, Judith L

Publication type:

Article

Rare sex chromosome variation 48,XXYY: An integrative review.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 386, doi. 10.1002/ajmg.c.31789

By:

Blumling, Amy A.;
Martyn, Kristy;
Talboy, Amy;
Close, Sharron

Publication type:

Article

The behavioral profile of children aged 1–5 years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY).

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 444, doi. 10.1002/ajmg.c.31788

By:

Urbanus, Evelien;
Swaab, Hanna;
Tartaglia, Nicole;
Cordeiro, Lisa;
Rijn, Sophie

Publication type:

Article

Germ cell loss in Klinefelter syndrome: When and why?

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 356, doi. 10.1002/ajmg.c.31787

By:

Willems, Margo;
Gies, Inge;
Van Saen, Dorien

Publication type:

Article

Gonadal dysfunction and beyond: Clinical challenges in children, adolescents, and adults with 47,XXY Klinefelter syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 302, doi. 10.1002/ajmg.c.31786

By:

Zitzmann, Michael;
Rohayem, Julia

Publication type:

Article

Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 414, doi. 10.1002/ajmg.c.31785

By:

Thompson, Talia;
Howell, Susan;
Davis, Shanlee;
Wilson, Rebecca;
Janusz, Jennifer;
Boada, Richard;
Pyle, Laura;
Tartaglia, Nicole

Publication type:

Article

High prevalence of cardiometabolic risk features in adolescents with 47,XXY/Klinefelter syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 327, doi. 10.1002/ajmg.c.31784

By:

Davis, Shanlee M.;
DeKlotz, Sophia;
Nadeau, Kristen J.;
Kelsey, Megan M.;
Zeitler, Philip S.;
Tartaglia, Nicole R.

Publication type:

Article

Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non‐invasive prenatal screen positive for monosomy X.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 294, doi. 10.1002/ajmg.c.31783

By:

Sund, Kristen L.;
Khattar, Divya;
Boomer, Theresa;
Caldwell, Samantha;
Dyer, Lisa;
Hopkin, Robert J.;
Smolarek, Teresa A.

Publication type:

Article

Human sex chromosome aneuploidies: The hypothalamic–pituitary–gonadal axis.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 313, doi. 10.1002/ajmg.c.31782

By:

Rogol, Alan D.

Publication type:

Article

Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 404, doi. 10.1002/ajmg.c.31781

By:

Riggan, Kirsten A.;
Close, Sharron;
Allyse, Megan A.

Publication type:

Article

Publication schedule for 2020.

Published in:: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 196, doi. 10.1002/ajmg.c.31711
Publication type:: Article

Table of Contents, Volume 184, Number 2, June 2020.

Published in:: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 193, doi. 10.1002/ajmg.c.31710
Publication type:: Article