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Select item 70743411.

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 16825012.

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.

K Snow, L K Doud, R Hagerman, R G Pergolizzi, S H Erster, S N Thibodeau

Am J Hum Genet. 1993 Dec; 53(6): 1217–1228.

PMCID:: PMC1682501

Summary Page Browse PDF–2.3M

Select item 16845923.

Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3.

L M Mulligan, M A Phillips, C J Forster-Gibson, J Beckett, M W Partington, N E Simpson, J J Holden, B N White

Am J Hum Genet. 1985 May; 37(3): 463–472.

PMCID:: PMC1684592

Summary Page Browse PDF–864K

Select item 86867834.

Raising Knowledge and Awareness of Fragile X Syndrome in Serbia, Georgia, and Colombia: A Model for Other Developing Countries?

Dragana Protic, Maria Jimena Salcedo-Arellano, Maja Stojkovic, Wilmar Saldarriaga, Laura Alejandra Ávila Vidal, Robert M. Miller, Nazi Tabatadze, Marina Peric, Randi Hagerman, Dejan B. Budimirovic

Yale J Biol Med. 2021 Dec; 94(4): 559–571. Published online 2021 Dec 29.

PMCID:: PMC8686783

Abstract Article PDF–932K

Select item 86856625.

Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition

Angela Peron, Maria Paola Canevini, Filippo Ghelma, Rosangela Arancio, Miriam Nella Savini, Aglaia Vignoli

J Med Genet. 2022 Jan; 59(1): 39–45. Published online 2020 Oct 26. doi: 10.1136/jmedgenet-2020-107333

PMCID:: PMC8685662

Abstract Article PDF–296K

Select item 29552386.

Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome

Weerasak Chonchaiya, Flora Tassone, Paul Ashwood, David Hessl, Andrea Schneider, Luis Campos, Danh V. Nguyen, Randi J. Hagerman

Hum Genet. 2010; 128(5): 539–548. Published online 2010 Sep 1. doi: 10.1007/s00439-010-0882-8

PMCID:: PMC2955238

Abstract Article PDF–343K

Select item 74948967.

Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy

Tim W. Rattay, Maren Rautenberg, Anne S. Söhn, Holger Hengel, Andreas Traschütz, Benjamin Röben, Stefanie N. Hayer, Rebecca Schüle, Sarah Wiethoff, Lena Zeltner, Tobias B. Haack, Alexander Cegan, Ludger Schöls, Erwin Schleicher, Andreas Peter

Sci Rep. 2020; 10: 15093. Published online 2020 Sep 15. doi: 10.1038/s41598-020-71248-8

PMCID:: PMC7494896

Abstract Article PDF–2.6M

Select item 30512268.

Changes in Glycogen and Glycosaminoglycan Levels in Hepatocytes of Iduronate-2-Sulfatase Knockout Mice before and after Recombinant Iduronate-2-Sulfatase Supplementation

Jee Hyun Lee, Yon Ho Choe, Su Jin Kim, Kyung Hoon Paik, Dong-Kyu Jin

Yonsei Med J. 2011 Mar 1; 52(2): 263–267. Published online 2011 Jan 29. doi: 10.3349/ymj.2011.52.2.263

PMCID:: PMC3051226

Abstract Article PDF–1.6M

Select item 32985219.

Clinical expression of Menkes disease in females with normal karyotype

Lisbeth Birk Møller, Malgorzata Lenartowicz, Marie-Therese Zabot, Arnaud Josiane, Lydie Burglen, Chris Bennett, Daniel Riconda, Richard Fisher, Sandra Janssens, Shehla Mohammed, Margreet Ausems, Zeynep Tümer, Nina Horn, Thomas G Jensen

Orphanet J Rare Dis. 2012; 7: 6. Published online 2012 Jan 22. doi: 10.1186/1750-1172-7-6

PMCID:: PMC3298521

Abstract Article PDF–329K

Select item 286892710.

Psychological Symptoms Correlate With Reduced Hippocampal Volume in Fragile X Premutation Carriers

P.E. Adams, J.S. Adams, D.V. Nguyen, D. Hessl, J.A. Brunberg, F. Tassone, W. Zhang, K. Koldewyn, S.M. Rivera, J. Grigsby, L. Zhang, C. DeCarli, P.J. Hagerman, R.J. Hagerman

Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2011 Apr 5.

Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2010 Apr 5; 153B(3): 775–785. doi: 10.1002/ajmg.b.31046

PMCID:: PMC2868927

Abstract Article PDF–521K

Select item 653445211.

Biliary Tract Disease in Girls and Young Women with Rett Syndrome

Kathleen J. Motil, Jane B. Lane, Judy O. Barrish, Fran Annese, Suzanne Geerts, Lauren McNair, Steven A. Skinner, Jeffrey L. Neul, Daniel G. Glaze, Alan K. Percy

J Pediatr Gastroenterol Nutr. Author manuscript; available in PMC 2020 Jun 1.

Published in final edited form as: J Pediatr Gastroenterol Nutr. 2019 Jun; 68(6): 799–805. doi: 10.1097/MPG.0000000000002273

PMCID:: PMC6534452

Abstract Article PDF–438K

Select item 634751012.

An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy

Leslie E. W. LaConte, Vrushali Chavan, Stephanie DeLuca, Karol Rubin, Jessica Malc, Susan Berry, C. Gail Summers, Konark Mukherjee

Am J Med Genet A. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Am J Med Genet A. 2019 Jan; 179(1): 94–103. Published online 2018 Dec 14. doi: 10.1002/ajmg.a.60687

PMCID:: PMC6347510

Abstract Article PDF–1.9M

Select item 632564513.

A COMPREHENSIVE CLINICAL AND GENETIC STUDY IN 127 PATIENTS WITH ID IN KINSHASA, DR CONGO

Aimé Lumaka, Valerie Race, Hilde Peeters, Anniek Corveleyn, Zeynep Coban-Akdemir, Shalini N. Jhangiani, Song Xiaofei, Gerrye Mubungu, Jennifer Posey, James R Lupski, Joris R Vermeesch, Prosper Lukusa, Koenraad Devriendt

Am J Med Genet A. Author manuscript; available in PMC 2019 Sep 1.

Published in final edited form as: Am J Med Genet A. 2018 Sep; 176(9): 1897–1909. Published online 2018 Aug 8. doi: 10.1002/ajmg.a.40382