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Select item 59302231.

A case report of hypersomnia in tetrasomy X improved with medical therapy

Dilip Jayaraman, Karen S. Carvalho, Daphne M Hasbani

Clin Case Rep. 2018 May; 6(5): 893–895. Published online 2018 Mar 22. doi: 10.1002/ccr3.1440

PMCID:: PMC5930223

Abstract Article PDF–69K

Select item 49122172.

Dual-Source Multi-Energy CT with Triple or Quadruple X-ray Beams

Lifeng Yu, Shuai Leng, Cynthia H. McCollough

Proc SPIE Int Soc Opt Eng. Author manuscript; available in PMC 2016 Jun 17.

Published in final edited form as: Proc SPIE Int Soc Opt Eng. 2016 Feb; 9783: 978312. Published online 2016 Mar 22. doi: 10.1117/12.2217446

PMCID:: PMC4912217

Abstract Article PDF–591K

Select item 10131223.

A 48,XXXX female

S. D. J. Peña, M. Ray, G. Douglas, E. Loadman, J. L. Hamerton

J Med Genet. 1974 Jun; 11(2): 211–215. doi: 10.1136/jmg.11.2.211

PMCID:: PMC1013122

Summary Page Browse PDF–942K

Select item 63695184.

Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke’s cleft cyst

Surabhi Uppal, Youn Hee Jee, Marissa Lightbourne, Joan C. Han, Constantine A. Stratakis

Hormones (Athens) Author manuscript; available in PMC 2019 Feb 11.

Published in final edited form as: Hormones (Athens). 2017 Jan; 16(1): 92–98. doi: 10.14310/horm.2002.1723

PMCID:: PMC6369518

Abstract Article PDF–920K

Select item 60567735.

Dual-source multienergy CT with triple or quadruple x-ray beams

Lifeng Yu, Liqiang Ren, Zhoubo Li, Shuai Leng, Cynthia H. McCollough

J Med Imaging (Bellingham) 2018 Jul; 5(3): 033502. Published online 2018 Jul 24. doi: 10.1117/1.JMI.5.3.033502

PMCID:: PMC6056773

Abstract Article PDF–3.8M

Select item 113297616.

Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX

Keiko Shimojima Yamamoto, Sakurako Yamamoto, Taichi Imaizumi, Satoko Kumada, Toshiyuki Yamamoto

Hum Genome Var. 2024; 11: 31. Published online 2024 Aug 16. doi: 10.1038/s41439-024-00289-6

PMCID:: PMC11329761

Abstract Article PDF–2.3M

Select item 28839637.

A review of trisomy X (47,XXX)

Nicole R Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson, Lennie Wilson

Orphanet J Rare Dis. 2010; 5: 8. Published online 2010 May 11. doi: 10.1186/1750-1172-5-8

PMCID:: PMC2883963

Abstract Article PDF–820K

Select item 2991098.

Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation.

R L Nussbaum, J G Lesko, R A Lewis, S A Ledbetter, D H Ledbetter

Proc Natl Acad Sci U S A. 1987 Sep; 84(18): 6521–6525. doi: 10.1073/pnas.84.18.6521

PMCID:: PMC299109

Summary Page Browse PDF–1.1M

Select item 54548039.

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

Abstract Article PDF–810K

Select item 33066710.

A 3.5 genome equivalent multi access YAC library: construction, characterisation, screening and storage.

R Anand, J H Riley, R Butler, J C Smith, A F Markham

Nucleic Acids Res. 1990 Apr 25; 18(8): 1951–1956. doi: 10.1093/nar/18.8.1951

PMCID:: PMC330667

Summary Page Browse PDF–1.7M

Select item 451438311.

The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy

Nicole Tartaglia, Susan Howell, Rebecca Wilson, Jennifer Janusz, Richard Boada, Sydney Martin, Jacqueline B Frazier, Michelle Pfeiffer, Karen Regan, Sarah McSwegin, Philip Zeitler

J Multidiscip Healthc. 2015; 8: 323–334. Published online 2015 Jul 17. doi: 10.2147/JMDH.S80242

PMCID:: PMC4514383

Abstract Article PDF–725K

Select item 402238412.

X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

Anju K Philips, Auli Sirén, Kristiina Avela, Mirja Somer, Maarit Peippo, Minna Ahvenainen, Fatma Doagu, Maria Arvio, Helena Kääriäinen, Hilde Van Esch, Guy Froyen, Stefan A Haas, Hao Hu, Vera M Kalscheuer, Irma Järvelä

Orphanet J Rare Dis. 2014; 9: 49. Published online 2014 Apr 11. doi: 10.1186/1750-1172-9-49

PMCID:: PMC4022384

Abstract Article PDF–2.9M

Select item 401299013.

Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition

Mélodie Aubart, Delphine Gobert, Fleur Aubart-Cohen, Delphine Detaint, Nadine Hanna, Hyacintha d’Indya, Janine-Sophie Lequintrec, Philippe Renard, Anne-Marie Vigneron, Philippe Dieudé, Jean-Pierre Laissy, Pierre Koch, Christine Muti, Joelle Roume, Veronica Cusin, Bernard Grandchamp, Laurent Gouya, Eric LeGuern, Thomas Papo, Catherine Boileau, Guillaume Jondeau

PLoS One. 2014; 9(5): e96387. Published online 2014 May 7. doi: 10.1371/journal.pone.0096387

PMCID:: PMC4012990

Abstract Article PDF–1.1M

Select item 404482714.

Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysms

Denise van der Linde, Hence J. M. Verhagen, Adriaan Moelker, Ingrid M. B. H. van de Laar, Isabelle Van Herzeele, Julie De Backer, Harry C. Dietz, Jolien W. Roos-Hesselink

J Vasc Surg. Author manuscript; available in PMC 2014 Jun 4.

Published in final edited form as: J Vasc Surg. 2013 Jan; 57(1): 96–102. Published online 2012 Sep 11. doi: 10.1016/j.jvs.2012.06.107

PMCID:: PMC4044827

Abstract Article PDF–625K

Select item 405670915.

Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis

Gabriela Franco Marques, Claudio Sampieri Tonello, Juliana Martins Prazeres Sousa

An Bras Dermatol. 2014 May-Jun; 89(3): 486–489. doi: 10.1590/abd1806-4841.20143043

PMCID:: PMC4056709

Abstract Article PDF–229K

Select item 406506016.

A Novel p. Gly630Ser Mutation of COL2A1 in a Chinese Family with Presentations of Legg–Calvé–Perthes Disease or Avascular Necrosis of the Femoral Head

Na Li, Jian Yu, Xiang Cao, Qiu-Yue Wu, Wei-Wei Li, Tian-Fu Li, Cui Zhang, Ying-Xia Cui, Xiao-Jun Li, Zhi-Min Yin, Xin-Yi Xia

PLoS One. 2014; 9(6): e100505. Published online 2014 Jun 20. doi: 10.1371/journal.pone.0100505

PMCID:: PMC4065060

Abstract Article PDF–2.7M

Select item 407266517.

Exome Sequencing of 18 Chinese Families with Congenital Cataracts: A New Sight of the NHS Gene

Wenmin Sun, Xueshan Xiao, Shiqiang Li, Xiangming Guo, Qingjiong Zhang

PLoS One. 2014; 9(6): e100455. Published online 2014 Jun 26. doi: 10.1371/journal.pone.0100455

PMCID:: PMC4072665

Abstract Article PDF–1.9M

Select item 410515418.

Immune-mediated Disorders among Women Carrier of Fragile X Premutation Alleles

Tri Indah Winarni, Weerasak Chonchaiya, Tanjung Ayu Sumekar, Paul Ashwood, Guadalupe Mendoza Morales, Flora Tassone, Danh V Nguyen, Sultana MH Faradz, Judy Van de Water, Kylee Cook, Alyssa Hamlin, Yi Mu, Paul J Hagerman, Randi J Hagerman

Am J Med Genet A. Author manuscript; available in PMC 2014 Jul 21.

Published in final edited form as: Am J Med Genet A. 2012 Oct; 0(10): 2473–2481. Published online 2012 Aug 17. doi: 10.1002/ajmg.a.35569

PMCID:: PMC4105154

Abstract Article PDF–100K

Select item 412940419.

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

Ian M. Campbell, Bo Yuan, Caroline Robberecht, Rolph Pfundt, Przemyslaw Szafranski, Meriel E. McEntagart, Sandesh C.S. Nagamani, Ayelet Erez, Magdalena Bartnik, Barbara Wiśniowiecka-Kowalnik, Katie S. Plunkett, Amber N. Pursley, Sung-Hae L. Kang, Weimin Bi, Seema R. Lalani, Carlos A. Bacino, Mala Vast, Karen Marks, Michael Patton, Peter Olofsson, Ankita Patel, Joris A. Veltman, Sau Wai Cheung, Chad A. Shaw, Lisenka E.L.M. Vissers, Joris R. Vermeesch, James R. Lupski, Paweł Stankiewicz

Am J Hum Genet. 2014 Aug 7; 95(2): 173–182. doi: 10.1016/j.ajhg.2014.07.003

PMCID:: PMC4129404

Abstract Article PDF–1.4M

Select item 415816520.

Clinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome

Lin-Lin Wang, Wei Zhou, Wei Zhao, Zhi-Qing Tian, Wei-Fan Wang, Xiao-Fang Wang, Tong-Xin Chen

J Immunol Res. 2014; 2014: 683160. Published online 2014 Aug 20. doi: 10.1155/2014/683160

PMCID:: PMC4158165

Abstract Article PDF–553K

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