PMC Articles for MedGen (Select 416028) - PMC - NCBI

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Items: 9

Select item 63951411.

A Rare Case of Klinefelter Syndrome Accompanied by Spastic Paraplegia and Peripheral Neuropathy

Ryo Sasaki, Yasuyuki Ohta, Yoshiaki Takahashi, Keiichiro Tsunoda, Koh Tadokoro, Kota Sato, Jingwei Shang, Mami Takemoto, Nozomi Hishikawa, Toru Yamashita, Koji Abe

Intern Med. 2019 Feb 1; 58(3): 437–440. Published online 2018 Sep 12. doi: 10.2169/internalmedicine.1048-18

PMCID:: PMC6395141

Article PubReader PDF–318K Cite

Select item 54548032.

Increased Number of Sex Chromosomes Affects Height in a Nonlinear Fashion: A Study of 305 Patients With Sex Chromosome Aneuploidy

Anne Marie Ottesen, Lise Aksglaede, Inger Garn, Nicole Tartaglia, Flora Tassone, Claus H. Gravholt, Anders Bojesen, Kaspar Sørensen, Niels Jørgensen, Ewa Rajpert-De Meyts, Tommy Gerdes, Anne-Marie Lind, Susanne Kjaergaard, Anders Juul

Am J Med Genet A. Author manuscript; available in PMC 2017 Jun 2.

Published in final edited form as: Am J Med Genet A. 2010 May; 152A(5): 1206–1212. doi: 10.1002/ajmg.a.33334

PMCID:: PMC5454803

Article PubReader PDF–810K Cite

Select item 52829033.

Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature

Caroline Demily, Alice Poisson, Elodie Peyroux, Valérie Gatellier, Alain Nicolas, Caroline Rigard, Caroline Schluth-Bolard, Damien Sanlaville, Massimiliano Rossi

BMC Med Genet. 2017; 18: 9. Published online 2017 Jan 31. doi: 10.1186/s12881-017-0371-1

PMCID:: PMC5282903

Article PubReader PDF–895K Cite

Select item 45012944.

48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome

Donatella Milani, Francesca Bonarrigo, Sabrina Avignone, Fabio Triulzi, Susanna Esposito

Ital J Pediatr. 2015; 41: 50. Published online 2015 Jul 14. doi: 10.1186/s13052-015-0156-0

PMCID:: PMC4501294

Article PubReader PDF–1.0M Cite

Select item 39095195.

Social Function in Multiple X and Y Chromosome Disorders: XXY, XYY, XXYY, XXXY

Jeannie Visootsak, John M. Graham

Dev Disabil Res Rev. Author manuscript; available in PMC 2014 Feb 1.

Published in final edited form as: Dev Disabil Res Rev. 2009; 15(4): 328–332. doi: 10.1002/ddrr.76

PMCID:: PMC3909519

Article PubReader PDF–40K Cite

Select item 33147126.

48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome

Nicole Tartaglia, Natalie Ayari, Susan Howell, Cheryl D’Epagnier, Philip Zeitler

Acta Paediatr. Author manuscript; available in PMC 2012 Mar 28.

Published in final edited form as: Acta Paediatr. 2011 Jun; 100(6): 851–860. Published online 2011 Apr 8. doi: 10.1111/j.1651-2227.2011.02235.x

PMCID:: PMC3314712

Article PubReader PDF–1.6M Cite

Select item 16348407.

Klinefelter syndrome and other sex chromosomal aneuploidies

Jeannie Visootsak, John M Graham, Jr

Orphanet J Rare Dis. 2006; 1: 42. Published online 2006 Oct 24. doi: 10.1186/1750-1172-1-42

PMCID:: PMC1634840

Article PubReader PDF–242K Cite

Select item 10157918.

49,XXXXY syndrome: behavioural and developmental profiles.

C A Lomelino, A L Reiss

J Med Genet. 1991 Sep; 28(9): 609–612. doi: 10.1136/jmg.28.9.609

PMCID:: PMC1015791

Summary Page Browse PDF–559K Cite

Select item 10135549.

Dermatoglyphs of Klinefelter's syndrome.

H Shiono, J Kadowaki, H Tanda, M Hikita

J Med Genet. 1977 Jun; 14(3): 187–189. doi: 10.1136/jmg.14.3.187

PMCID:: PMC1013554

Summary Page Browse PDF–411K Cite

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