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Select item 97624381.

Врожденный гиперинсулинизм в составе синдрома Кабуки

А. Р. Бенина, М. А. Меликян

Probl Endokrinol (Mosk) 2022; 68(5): 91–96. Russian. Published online 2022 Jul 20. doi: 10.14341/probl13145

PMCID:: PMC9762438

Abstract Article PDF–781K

Select item 70743412.

Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa)

Karen Kengne Kamga, Séraphin Nguefack, Khuthala Minka, Edmond Wonkam Tingang, Alina Esterhuizen, Syntia Nchangwi Munung, Jantina De Vries, Ambroise Wonkam

Genes (Basel) 2020 Feb; 11(2): 136. Published online 2020 Jan 28. doi: 10.3390/genes11020136

PMCID:: PMC7074341

Abstract Article PDF–1.7M

Select item 60547913.

The alternative lengthening of telomere phenotype is significantly associated with loss of ATRX expression in high-grade pediatric and adult astrocytomas: a multi-institutional study of 214 astrocytomas

Malak Abedalthagafi, Joanna J Phillips, Grace E Kim, Sabine Mueller, Daphne A Haas-Kogen, Roxanne E Marshall, Sidney E Croul, Mariarita R Santi, Jing Cheng, Shengmei Zhou, Lisa M Sullivan, Maria Martinez-Lage, Alexander R Judkins, Arie Perry

Mod Pathol. Author manuscript; available in PMC 2018 Jul 21.

Published in final edited form as: Mod Pathol. 2013 Nov; 26(11): 1425–1432. Published online 2013 Jun 14. doi: 10.1038/modpathol.2013.90

PMCID:: PMC6054791

Abstract Article PDF–667K

Select item 58222064.

Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy

Bela R. Turk, Benjamin E. Theisen, Christina L. Nemeth, Joel S. Marx, Xiaohai Shi, Melissa Rosen, Richard O. Jones, Ann B. Moser, Paul A. Watkins, Gerald V. Raymond, Carol Tiffany, Ali Fatemi

JAMA Neurol. 2017 May; 74(5): 519–524. Published online 2017 Mar 13. doi: 10.1001/jamaneurol.2016.5715

PMCID:: PMC5822206

Abstract Article

Select item 57226995.

Enzymatic Testing Sensitivity, Variability and Practical Diagnostic Algorithm for Pyruvate Dehydrogenase Complex (PDC) Deficiency

Ha Kyung Shin, George Grahame, Shawn E. McCandless, Douglas S. Kerr, Jirair K. Bedoyan

Mol Genet Metab. Author manuscript; available in PMC 2018 Nov 1.

Published in final edited form as: Mol Genet Metab. 2017 Nov; 122(3): 61–66. Published online 2017 Sep 8. doi: 10.1016/j.ymgme.2017.09.001

PMCID:: PMC5722699

Abstract Article PDF–671K

Select item 53444226.

Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene

Grace X. Y. Lim, Minli Yeo, Yvonne Y. Koh, Tri Indah Winarni, Indhu-Shree Rajan-Babu, Samuel S. Chong, Sultana M. H. Faradz, Ming Guan

PLoS One. 2017; 12(3): e0173279. Published online 2017 Mar 9. doi: 10.1371/journal.pone.0173279

PMCID:: PMC5344422

Abstract Article PDF–1.0M

Select item 50191777.

Loss and gain of MeCP2 lead to similar hippocampal circuit abnormalities that are rescued by deep brain stimulation in a Rett syndrome mouse model

Hui Lu, Ryan T. Ash, Lingjie He, Sara E. Kee, Wei Wang, Dinghui Yu, Shuang Hao, Xiangling Meng, Kerstin Ure, Aya Ito-Ishida, Bin Tang, Yaling Sun, Daoyun Ji, Jianrong Tang, Benjamin R. Arenkiel, Stelios M. Smirnakis, Huda Y. Zoghbi

Neuron. Author manuscript; available in PMC 2017 Aug 17.

Published in final edited form as: Neuron. 2016 Aug 17; 91(4): 739–747. Published online 2016 Aug 4. doi: 10.1016/j.neuron.2016.07.018

PMCID:: PMC5019177

Abstract Article PDF–763K

Select item 49066958.

Clapping-surpressed focal spikes in EEG may be unique for the patients with rett syndrome : a case report

Yudan Lv, Chang Liu, Mingchao Shi, Li Cui

BMC Neurol. 2016; 16: 91. Published online 2016 Jun 13. doi: 10.1186/s12883-016-0613-4

PMCID:: PMC4906695

Abstract Article PDF–2.3M

Select item 48608819.

Neurological and Endocrine Phenotypes of Fragile X Carrier Women

Deborah Hall, Kristina Todorova-Koteva, Shrikant Pandya, Bryan Bernard, Bichun Ouyang, Maura Walsh, Tamar Pounardjian, Cory Deburghraeve, Lili Zhou, Molly Losh, Maureen Leehey, Elizabeth Berry-Kravis

Clin Genet. Author manuscript; available in PMC 2017 Jan 1.

Published in final edited form as: Clin Genet. 2016 Jan; 89(1): 60–67. Published online 2015 Sep 4. doi: 10.1111/cge.12646

PMCID:: PMC4860881

Abstract Article PDF–92K

Select item 378633110.

Levels and associations among self-esteem, fertility distress, coping, and reaction to potentially being a genetic carrier in women with diminished ovarian reserve

Ceylan Cizmeli, Marci Lobel, Jason Franasiak, Lisa M. Pastore

Fertil Steril. Author manuscript; available in PMC 2014 Jun 1.

Published in final edited form as: Fertil Steril. 2013 Jun; 99(7): 2037–44.e3. Published online 2013 Mar 15. doi: 10.1016/j.fertnstert.2013.02.033

PMCID:: PMC3786331

Abstract Article PDF–328K

Select item 351660211.

Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor

Carlo Rinaldi, Christopher Grunseich, Irina F. Sevrioukova, Alice Schindler, Iren Horkayne-Szakaly, Costanza Lamperti, Guida Landouré, Marina L. Kennerson, Barrington G. Burnett, Carsten Bönnemann, Leslie G. Biesecker, Daniele Ghezzi, Massimo Zeviani, Kenneth H. Fischbeck

Am J Hum Genet. 2012 Dec 7; 91(6): 1095–1102. doi: 10.1016/j.ajhg.2012.10.008

PMCID:: PMC3516602

Abstract Article PDF–1.0M

Select item 348465112.

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

Lingli Huang, Lachlan A. Jolly, Saffron Willis-Owen, Alison Gardner, Raman Kumar, Evelyn Douglas, Cheryl Shoubridge, Dagmar Wieczorek, Andreas Tzschach, Monika Cohen, Anna Hackett, Michael Field, Guy Froyen, Hao Hu, Stefan A. Haas, Hans-Hilger Ropers, Vera M. Kalscheuer, Mark A. Corbett, Jozef Gecz

Am J Hum Genet. 2012 Oct 5; 91(4): 694–702. doi: 10.1016/j.ajhg.2012.08.011

PMCID:: PMC3484651

Abstract Article PDF–994K

Select item 331555113.

Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

Fernanda dos Santos Pereira, Ursula Matte, Clarissa Troller Habekost, Raphael Machado de Castilhos, Antonette Souto El Husny, Charles Marques Lourenço, Angela M. Vianna-Morgante, Liane Giuliani, Marcial Francis Galera, Rachel Honjo, Chong Ae Kim, Juan Politei, Carmen Regla Vargas, Laura Bannach Jardim

PLoS One. 2012; 7(3): e34195. Published online 2012 Mar 29. doi: 10.1371/journal.pone.0034195

PMCID:: PMC3315551

Abstract Article PDF–548K

Select item 312066114.

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

Ana I Seixas, José Vale, Paula Jorge, Isabel Marques, Rosário Santos, Isabel Alonso, Ana M Fortuna, Jorge Pinto-Basto, Paula Coutinho, Russell L Margolis, Jorge Sequeiros, Isabel Silveira

Behav Brain Funct. 2011; 7: 19. Published online 2011 Jun 3. doi: 10.1186/1744-9081-7-19

PMCID:: PMC3120661

Abstract Article PDF–322K

Select item 180156815.

Fragile X gene instability: anchoring AGGs and linked microsatellites.

N Zhong, W Yang, C Dobkin, W T Brown

Am J Hum Genet. 1995 Aug; 57(2): 351–361.

PMCID:: PMC1801568

Summary Page Browse PDF–2.4M

Select item 171596216.

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.

B B de Vries, A M van den Ouweland, S Mohkamsing, H J Duivenvoorden, E Mol, K Gelsema, M van Rijn, D J Halley, L A Sandkuijl, B A Oostra, A Tibben, M F Niermeijer

Am J Hum Genet. 1997 Sep; 61(3): 660–667. doi: 10.1086/515496

PMCID:: PMC1715962

Summary Page Browse PDF–1.2M

Select item 168266317.

Further localization of X-linked hydrocephalus in the chromosomal region Xq28

Patrick J. Willems, Lieve Vits, Peter Raeymaekers, Joke Beuten, Paul Coucke, Jeanette J. A. Holden, Christine Van Broeckhoven, Stephen T. Warren, Michal Sagi, David Robinson, Nick Dennis, Kenneth J. Friedman, Dorothy Magnay, Stanislas Lyonnet, Bradley N. White, Bärbel H. Wittwer, Arthur S. Aylsworth, Sigrid Reicke

Am J Hum Genet. 1992 Aug; 51(2): 307–315.

PMCID:: PMC1682663

Summary Page Browse PDF–1.4M

Select item 164629918.

Fragile X syndrome: a public health concern.

S Trusler, J Beatty-DeSana

Am J Public Health. 1985 Jul; 75(7): 771–772. doi: 10.2105/ajph.75.7.771

PMCID:: PMC1646299

Summary Page Browse PDF–435K

Select item 4487119.

P-type ATPase from the cyanobacterium Synechococcus 7942 related to the human Menkes and Wilson disease gene products.

L T Phung, G Ajlani, R Haselkorn

Proc Natl Acad Sci U S A. 1994 Sep 27; 91(20): 9651–9654. doi: 10.1073/pnas.91.20.9651

PMCID:: PMC44871

Summary Page Browse PDF–963K

Select item 4390720.

The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure.

M Fry, L A Loeb

Proc Natl Acad Sci U S A. 1994 May 24; 91(11): 4950–4954. doi: 10.1073/pnas.91.11.4950

PMCID:: PMC43907

Summary Page Browse PDF–1.1M

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