FXS FMR1

Epidemiology of fragile X syndrome: a systematic review and meta-analysis.

Jessica,Hunter, Oliver,Rivero-Arias, Angel,Angelov, Edward,Kim, Iain,Fotheringham, Jose,Leal

Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.

Haibao,Tang, Ewen F,Kirkness, Christoph,Lippert, William H,Biggs, Martin,Fabani, Ernesto,Guzman, Smriti,Ramakrishnan, Victor,Lavrenko, Boyko,Kakaradov, Claire,Hou, Barry,Hicks, David,Heckerman, Franz J,Och, C Thomas,Caskey, J Craig,Venter, Amalio,Telenti

Population-based FMR1 carrier screening among reproductive women.

Quratul,Ain, Ye Hyun,Hwang, Daryl,Yeung, Pacharee,Panpaprai, Wiwat,Iamurairat, Wiboon,Chutimongkonkul, Objoon,Trachoo, Flora,Tassone, Poonnada,Jiraanont

CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS).

Flora,Tassone, John,Adams, Elizabeth M,Berry-Kravis, Susannah S,Cohen, Alfredo,Brusco, Maureen A,Leehey, Lexin,Li, Randi J,Hagerman, Paul J,Hagerman

Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death.

Deborah A,Hall, Sukriti,Nag, Bichun,Ouyang, David A,Bennett, Yuanqing,Liu, Aisha,Ali, Lili,Zhou, Elizabeth,Berry-Kravis

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.

Simon,Ardui, Valerie,Race, Thomy,de Ravel, Hilde,Van Esch, Koenraad,Devriendt, Gert,Matthijs, Joris R,Vermeesch

Diseases of unstable repeat expansion: mechanisms and common principles.

Jennifer R,Gatchel, Huda Y,Zoghbi

Clinical and neuroimaging review of triplet repeat diseases.

Ryo,Kurokawa, Mariko,Kurokawa, Akihiko,Mitsutake, Moto,Nakaya, Akira,Baba, Yasuhiro,Nakata, Toshio,Moritani, Osamu,Abe

Molecular studies of the fragile X syndrome.

S J,Knight, M C,Hirst, A,Roche, Z,Christodoulou, S M,Huson, R,Winter, M,Fitchett, M J,McKinley, R H,Lindenbaum, Y,Nakahori

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

A J,Verkerk, M,Pieretti, J S,Sutcliffe, Y H,Fu, D P,Kuhl, A,Pizzuti, O,Reiner, S,Richards, M F,Victoria, F P,Zhang

Oxford Nanopore third generation sequencing for analysis of FMR1 5'UTR CGG repeat expansions.

Xu,Yang, Bowei,Han, Jie,Huang, Min,Zhang, Shi,Weng, Guojun,Ouyang, Wanqing,Han, Wenyu,Wang, Li,Zhang, Juanjuan,Chen, Juan,Du, Yingsong,Wu, Xuexi,Yang

The association of CGG repeat length and AGG interruption patterns on FMR1 alleles with female infertility.

Zhou,Xuanyou, Xu,Naixin, Cao,Xianling, Shi,Weihui, Li,Shuyuan, Chen,Songchang, Xu,Chenming

Tyrosine Peptides Alleviates Multifaceted Toxicity Linked to Expanded CGG Repeats in Fragile X‑Associated Tremor/Ataxia Syndrome.

Krishna,Singh, Sakshi,Shukla, Tapas,Ghosh, Apurba K,Das, Amit,Kumar

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.

Wai Yan,Yau, Roisin,Sullivan, Emer,O'Connor, David,Pellerin, Michael H,Parkinson, Paola,Giunti, Marie-Josée,Dicaire, Matt C,Danzi, Stephan,Züchner, Bernard,Brais, Nicholas W,Wood, Henry,Houlden, Jana,Vandrovcova

Interactome of FMRP-N-tat therapeutic unveils key interactions for cellular function in Fragile X neurons.

Kévin,Leguay, Mariana,Acevedo, Eva,Colic, Preya U,Patel, Saeideh,Shamsi, Helen Lb,Chan, Sharon,Sun, Daneck,Lang-Ouellette, Benny,Chan, Xiaoqin,Zhan, Ray W,Turner, Joseph,Mancini, Oliver A,Kent

Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X-Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials.

David,Hessl, Jun Yi,Wang, Glenda,Espinal, Ellery,Santos, Flora,Tassone, Randi J,Hagerman, Susan M,Rivera

Modelling fragile X-associated neuropsychiatric disorders in young inducible 90CGG premutation mice.

Gürsel,Çalışkan, Sara Enrile,Lacalle, Emre,Kul, Miguel,Del Ángel, Allison Loaiza,Zambrano, Renate,Hukema, Mónica,Santos, Oliver,Stork

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20-75 Years of Age.

Jessica,Klusek, Lauren,Jenner, Abigail L,Hogan, Laura,Friedman, Elizabeth,Berry-Kravis, Flora,Tassone, Tatyana,Adayev, Amanda J,Fairchild, Jane E,Roberts

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort.

Sarah,Fazal, Harriet,Dashnow, Maike F,Dohrn, Jacquelyn,Raposo, Laurel,Hiatt, Matt C,Danzi, Isaac R L,Xu, Camilo,Toro, David R,Adams, Karen,Usdin, Bruce,Hayward, Shilpa Nadimpalli,Kobren, Shamil R,Sunyaev, Rebecca C,Spillmann, Vandana,Shashi, Adriana,Rebelo, Guney,Bademci, Mustafa,Tekin, Aaron R,Quinlan, Stephan,Zuchner