Literature DB >> 32496026

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

Claus H Gravholt1,2, Nicole Tartaglia3,4, Christine Disteche5,6.   

Abstract

Entities:  

Mesh：

Year:  2020        PMID： 32496026      PMCID： PMC7419158          DOI： 10.1002/ajmg.c.31808

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN： 1552-4868            Impact factor:   3.908


× No keyword cloud information.
  40 in total

1.  Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY.

Authors:  Carole Samango-Sprouse; Emily J Stapleton; Patrick Lawson; Francie Mitchell; Teresa Sadeghin; Sherida Powell; Andrea L Gropman
Journal:  Am J Med Genet C Semin Med Genet       Date:  2015-05-01       Impact factor: 3.908

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

Authors:  Talia Thompson; Susan Howell; Shanlee Davis; Rebecca Wilson; Jennifer Janusz; Richard Boada; Laura Pyle; Nicole Tartaglia
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-05-25       Impact factor: 3.908

Review 3.  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.

Authors:  Sofia B Winge; Samuele Soraggi; Mikkel H Schierup; Ewa Rajpert-De Meyts; Kristian Almstrup
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-05-25       Impact factor: 3.908

Review 4.  Psychological functioning, brain morphology, and functional neuroimaging in Klinefelter syndrome.

Authors:  Anne Skakkebaek; Claus H Gravholt; Simon Chang; Philip J Moore; Mikkel Wallentin
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-05-28       Impact factor: 3.908

Review 5.  Metabolic and cardiovascular risk factors in Klinefelter syndrome.

Authors:  Matteo Spaziani; Antonio F Radicioni
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-05-26       Impact factor: 3.908

Review 6.  Human sex chromosome aneuploidies: The hypothalamic-pituitary-gonadal axis.

Authors:  Alan D Rogol
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-03-14       Impact factor: 3.908

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

Authors:  Jennifer Janusz; Caroline Harrison; Cristina Boada; Lisa Cordeiro; Susan Howell; Nicole Tartaglia; Richard Boada
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-06-09       Impact factor: 3.908

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

Authors:  Shanlee M Davis; Luke Bloy; Timothy P L Roberts; Karen Kowal; Amanda Alston; Aysha Tahsin; Alyssa Truxon; Judith L Ross
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-06-16       Impact factor: 3.908

9.  Sex chromosome aneuploidy alters the relationship between neuroanatomy and cognition.

Authors:  Allysa Warling; Siyuan Liu; Kathleen Wilson; Ethan Whitman; François M Lalonde; Liv S Clasen; Jonathan D Blumenthal; Armin Raznahan
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-06-08       Impact factor: 3.359

10.  Klinefelter syndrome and testosterone treatment: a national cohort study on thrombosis risk.

Authors:  Simon Chang; Christian Fynbo Christiansen; Anders Bojesen; Svend Juul; Anna-Marie B Münster; Claus H Gravholt
Journal:  Endocr Connect       Date:  2020-01       Impact factor: 3.335
View more
  3 in total

1.  Parenthood among individuals with Turner syndrome: results of an online survey of attitudes towards pregnancy, adoption, and surrogacy.

Authors:  Erin Falsey; Allison L Cirino; Emma Snyder; Marcie Steeves; Angela E Lin
Journal:  J Community Genet       Date:  2022-04-08

2.  A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype.

Authors:  Willem M A Verhoeven; Jos I M Egger; Sandra Mergler; Ton A A Meijer; Rolph Pfundt; Marjolein H Willemsen
Journal:  Int J Gen Med       Date:  2022-03-10

3.  Polymerase chain reaction-based assays facilitate the breeding and study of mouse models of Klinefelter syndrome.

Authors:  Hai-Xia Zhang; Yu-Lin Zhou; Wen-Yan Xu; Xiao-Lu Chen; Jia-Yang Jiang; Xiao-Man Zhou; Zeng-Ge Wang; Rong-Qin Ke; Qi-Wei Guo
Journal:  Asian J Androl       Date:  2022 Jan-Feb       Impact factor: 3.285
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.