Works about DIAGNOSIS of fragile X syndrome

Results: 91

Case Report and a Brief Review on Fragile X Associated Premature Ovarian Insufficiency (FXPOI).

Published in:

Apollo Medicine, 2023, v. 20, p. S62, doi. 10.4103/am.am_67_23

By:

Saminathan, Anitha;
Gowrishankar, Kalpana;
Nagarathinam, Indhumathi

Publication type:

Article

The Persistence of Self-injurious and Aggressive Behavior in Males with Fragile X Syndrome Over 8 Years: A Longitudinal Study of Prevalence and Predictive Risk Markers.

Published in:

Journal of Autism & Developmental Disorders, 2019, v. 49, n. 7, p. 2913, doi. 10.1007/s10803-019-04002-3

By:

Crawford, Hayley;
Karakatsani, Efthalia;
Singla, Gursharan;
Oliver, Chris

Publication type:

Article

Using Discrete Trial Training to Identify Specific Learning Impairments in Boys with Fragile X Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2014, v. 44, n. 7, p. 1659, doi. 10.1007/s10803-014-2037-6

By:

Hall, Scott;
Hustyi, Kristin;
Hammond, Jennifer;
Hirt, Melissa;
Reiss, Allan

Publication type:

Article

Diagnostic Validity of Sensory Over-Responsivity: A Review of the Literature and Case Reports.

Published in:

Journal of Autism & Developmental Disorders, 2008, v. 38, n. 3, p. 516, doi. 10.1007/s10803-007-0418-9

By:

Reynolds, Stacey;
Lane, Shelly J.

Publication type:

Article

Dysregulation of Mammalian Target of Rapamycin Signaling in Mouse Models of Autism.

Published in:

Journal of Neuroscience, 2015, v. 35, n. 41, p. 13836, doi. 10.1523/JNEUROSCI.2656-15.2015

By:

Huber, Kimberly M.;
Klann, Eric;
Costa-Mattioli, Mauro;
Suzanne Zukin, R.

Publication type:

Article

Prevalence of Underdiagnosed Fragile X Syndrome in 2 Health Systems.

Published in:

JAMA Network Open, 2021, v. 4, n. 12, p. e2141516, doi. 10.1001/jamanetworkopen.2021.41516

By:

Movaghar, Arezoo;
Page, David;
Brilliant, Murray;
Mailick, Marsha

Publication type:

Article

A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population.

Published in:

2015

By:

Lorefice, L.;
Tranquilli, S.;
Fenu, G.;
Murru, M.;
Frau, J.;
Rolesu, M.;
Coghe, G.;
Marrosu, F.;
Marrosu, M.;
Cocco, E.;
Murru, M R;
Coghe, G C;
Marrosu, M G

Publication type:

journal article

Psychiatric-legal aspects in the oncological pathology.

Published in:

Oncolog-Hematolog, 2018, n. 43, p. 31

By:

Florescu, Cătălina

Publication type:

Article

Pre-trained artificial intelligence language model represents pragmatic language variability central to autism and genetically related phenotypes.

Published in:

Autism: The International Journal of Research & Practice, 2025, v. 29, n. 5, p. 1346, doi. 10.1177/13623613241304488

By:

Lau, Joseph CY;
Landau, Emily;
Zeng, Qingcheng;
Zhang, Ruichun;
Crawford, Stephanie;
Voigt, Rob;
Losh, Molly

Publication type:

Article

Friendships and social participation as markers of quality of life of adolescents and adults with fragile X syndrome and autism.

Published in:

Autism: The International Journal of Research & Practice, 2019, v. 23, n. 2, p. 383, doi. 10.1177/1362361317709202

By:

DaWalt, Leann Smith;
Usher, Lauren V.;
Greenberg, Jan S.;
Mailick, Marsha R.

Publication type:

Article

Clinical implication of FMR1 intermediate alleles in a Spanish population.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 153, doi. 10.1111/cge.13257

By:

Alvarez‐mora, M. I.;
Madrigal, I.;
Martinez, F.;
Tejada, M.‐i.;
Izquierdo‐alvarez, S.;
Sanchez‐villar De Saz, P.;
Caro‐llopis, A.;
Villate, O.;
Rodríguez‐santiago, B.;
Pérez Jurado, L. A.;
Rodriguez‐revenga, L.;
Milà, M.

Publication type:

Article

Fragile X-associated tremor ataxia syndrome and cognitive impairment.

Published in:

Australian & New Zealand Journal of Psychiatry, 2019, v. 53, n. 4, p. 370, doi. 10.1177/0004867418814942

By:

Singh, Dhiren;
Davis, Thomas

Publication type:

Article

Enacting genetic responsibility: experiences of mothers who carry the fragile X gene.

Published in:

2011

By:

Raspberry, Kelly;
Skinner, Debra

Publication type:

Journal Article

Apuntes sobre el S¡ndrome de X-Frgil.

Published in:

Revista Medica Herediana, 2013, v. 24, n. 4, p. 267, doi. 10.20453/rmh.v24i4.268

By:

Quiroga de Michelena, Maria Isabel

Publication type:

Article

Estrategia de genotipado del gen FMR1: Mtodo de diagn¢stico alternativo para el S¡ndrome X Frgil y otras enfermedades por expansi¢n de trinucleotidos.

Published in:

Revista Medica Herediana, 2013, v. 24, n. 4, p. 269, doi. 10.20453/rmh.2013.269

By:

Lindo-Samanamud, Sa£l;
Cornejo-Olivas, Mario;
Ortega, Olimpio;
Marca, Victoria;
Espinoza-Huertas, Keren;
Mazzetti, Pilar

Publication type:

Article

Repeat expansion and methylation-sensitive triplet-primed polymerase chain reaction for fragile X mental retardation 1 gene screening in institutionalised intellectually disabled individuals.

Published in:

2021

By:

Sihombing, Nydia Rena Benita;
Cai, Shiwei;
Pei Wen Wong, Daphne;
Guan, Ming;
Siong-Chuan Chong, Samuel;
Hussein Faradz, Sultana Muhammad;
Winarni, Tri Indah;
Wong, Daphne Pei Wen;
Chong, Samuel Siong-Chuan;
Faradz, Sultana Muhammad Hussein

Publication type:

journal article

Fragile X syndrome: Is now the time for population screening?

Published in:

Medical Laboratory Observer (MLO), 2010, v. 42, n. 5, p. 20

By:

Hantash, Feras M.

Publication type:

Article

Development of a fragile X syndrome ( FXS) knowledge scale: towards a modified multidimensional measure of informed choice for FXS population carrier screening.

Published in:

Health Expectations, 2015, v. 18, n. 1, p. 69, doi. 10.1111/hex.12009

By:

Ames, Alice G.;
Jaques, Alice;
Ukoumunne, Obioha C.;
Archibald, Alison D.;
Duncan, Rony E.;
Emery, Jon;
Metcalfe, Sylvia A.

Publication type:

Article

Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study.

Published in:

Genes, 2016, v. 7, n. 10, p. 90, doi. 10.3390/genes7100090

By:

Merino, Sonia;
Ibarluzea, Nekane;
Maortua, Hiart;
Prieto, Begoña;
Rouco, Idoia;
López-Aríztegui, Maria-Asunción;
Tejada, Maria-Isabel

Publication type:

Article

Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders.

Published in:

Genes, 2016, v. 7, n. 10, p. 87, doi. 10.3390/genes7100087

By:

Rajan-Babu, Indhu-Shree;
Chong, Samuel S.

Publication type:

Article

Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia.

Published in:

Genes, 2016, v. 7, n. 9, p. 68, doi. 10.3390/genes7090068

By:

Yun Tae Hwang;
Dudding, Tracy;
Aliaga, Solange Mabel;
Arpone, Marta;
Francis, David;
Xin Li;
Slater, Howard Robert;
Rogers, Carolyn;
Bretherton, Lesley;
du Sart, Desirée;
Heard, Robert;
Godler, David Eugeny

Publication type:

Article

Towards a Better Molecular Diagnosis of FMR1-Related Disorders--A Multiyear Experience from a Reference Lab.

Published in:

Genes, 2016, v. 7, n. 9, p. 59, doi. 10.3390/genes7090059

By:

Rzońca, Sylwia Olimpia;
Gos, Monika;
Szopa, Daniel;
Sielska-Rotblum, Danuta;
Landowska, Aleksandra;
Szpecht-Potocka, Agnieszka;
Milewski, Michał;
Czekajska, Jolanta;
Abramowicz, Anna;
Obersztyn, Ewa;
Maciejko, Dorota;
Mazurczak, Tadeusz;
Bal, Jerzy

Publication type:

Article

Relationships Between Early Gestures and Later Language in Children With Fragile X Syndrome.

Published in:

American Journal of Speech-Language Pathology, 2010, v. 19, n. 2, p. 135, doi. 10.1044/1058-0360(2009/09-0018)

By:

Flenthrope, Jennifer L.;
Brady, Nancy C.

Publication type:

Article

Neural Dynamics of Autistic Repetitive Behaviors and Fragile X Syndrome: Basal Ganglia Movement Gating and mGluR-Modulated Adaptively Timed Learning.

Published in:

Frontiers in Psychology, 2018, p. 1, doi. 10.3389/fpsyg.2018.00269

By:

Grossberg, Stephen;
Kishnan, Devika

Publication type:

Article

Assessment of dental and periodontal indices and Streptococcus mutans virulence in fragile X syndrome patients.

Published in:

Journal of Intellectual Disability Research, 2024, v. 68, n. 9, p. 1026, doi. 10.1111/jir.13142

By:

do Amaral, Cristhiane Olivia Ferreira;
Kantovitiz, Kamila Rosamilia;
de Araújo, V. C.;
Marega, T.;
Teixeira, L. N.;
Martinez, E. F.

Publication type:

Article

Fragile X syndrome. Improving understanding and diagnosis.

Published in:

1994

By:

Caskey, C T

Publication type:

commentary

Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

Published in:

JAMA: Journal of the American Medical Association, 1993, v. 270, n. 13, p. 1569, doi. 10.1001/jama.1993.03510130075034

By:

Brown, W. Ted;
Houck, George E.

Publication type:

Article

Short Report Utilization of prenatal genetic testing by Israeli Moslem women: a national survey.

Published in:

Clinical Genetics, 2004, v. 65, n. 4, p. 278, doi. 10.1111/j.1399-0004.2004.00228.x

By:

Sher, C.;
Romano-Zelekha, O.;
Green, M.S.;
Shohat, T.

Publication type:

Article

The FXG: A Presynaptic Fragile X Granule Expressed in a Subset of Developing Brain Circuits.

Published in:

Journal of Neuroscience, 2009, v. 29, n. 5, p. 1514, doi. 10.1523/JNEUROSCI.3937-08.2009

By:

Christie, Sean B.;
Akins, Michael R.;
Schwob, James E.;
Fallon, Justin R.

Publication type:

Article

USING PERCENTILE SCHEDULES TO INCREASE EYE CONTACT IN CHILDREN WITH FRAGILE X SYNDROME.

Published in:

Journal of Applied Behavior Analysis (Wiley-Blackwell), 2009, v. 42, n. 1, p. 171, doi. 10.1901/jaba.2009.42-171

By:

Hall, Scott S.;
Maynes, Natalee P.;
Reiss, Allan L.

Publication type:

Article

Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain.

Published in:

BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/965839

By:

Fernández, Raquel M.;
Peciña, Ana;
Lozano-Arana, Maria Dolores;
Sánchez, Beatriz;
García-Lozano, Juan Carlos;
Borrego, Salud;
Antiñolo, Guillermo

Publication type:

Article

Pilot Evaluation of the Biopsychosocial Screening Inventory for Fragile X Syndrome (BIPSSI-FX) with an Extended African American Family.

Published in:

Journal of Theory Construction & Testing, 2012, v. 16, n. 1, p. 22

By:

Powell-Young, Yolanda M.;
Sherman, Stephanie;
Brossman, Bradley;
Johnson, Vanessa

Publication type:

Article

Detailed assessment of incontinence in boys with fragile-X-syndrome in a home setting.

Published in:

2016

By:

Niemczyk, Justine;
Gontard, Alexander;
Equit, Monika;
Bauer, Katharina;
Naumann, Teresa;
Wagner, C.;
Curfs, Leopold;
von Gontard, Alexander

Publication type:

journal article

The first case of the FRAXE form of inherited mental retardation in Croatia.

Published in:

2002

By:

Hećimović, Silva;
Bago, Ruzica;
Muzinić, Dubravka;
Begović, Davor;
Pavelić, Kresimir

Publication type:

Case Study

Effect of Recurrent Otitis Media on Language Profile in Children with Fragile X Syndrome.

Published in:

Clinical Medicine Insights: Ear, Nose & Throat, 2013, n. 6, p. 1, doi. 10.4137/CMENT.S11157

By:

Badran, Hatem Soliman;
Abulnasr, Khairy M.;
Nasser, Sherien Abd El Hameed

Publication type:

Article

Case 2: An 11-year-old girl with aggressive behaviour and intellectual impairment.

Published in:

2014

By:

Omar, Jasmine;
Agarwal, Rajkumar;
Serajee, Fatema

Publication type:

Case Study

Fragile X syndrome: Are paediatric health care providers missing the diagnosis?

Published in:

2013

By:

Aubertin, Gudrun

Publication type:

Case Study

Fragile X-associated tremor/ataxia syndrome: cognitive presentations.

Published in:

2017

By:

Connon, P.;
Larner, A. J.

Publication type:

Case Study

Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.

Published in:

BMC Pediatrics, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12887-015-0394-8

By:

Xiaoli Chen;
Jingmin Wang;
Hua Xie;
Wenjuan Zhou;
Ye Wu;
Jun Wang;
Jian Qin;
Jin Guo;
Qiang Gu;
Xiaozhen Zhang;
Taoyun Ji;
Yu Zhang;
Zhiming Xiong;
Liwen Wang;
Xiru Wu;
Latham, Gary J.;
Yuwu Jiang

Publication type:

Article

Molecular screening of intellectually disabled patients and those with premature ovarian failure for CGG repeat expansion at FMR1 locus: Implication of combined triplet repeat primed polymerase chain reaction and methylation-specific polymerase chain reaction analysis.

Published in:

2016

By:

Muthuswamy, Srinivasan;
Delsa Dean, Deepika;
Agarwal, Sarita;
Dean, Deepika Delsa

Publication type:

journal article

CGG repeat expansion at FMR1 locus - A new molecular diagnostic algorithm in fragile X syndrome.

Published in:

2016

By:

Kumar, Neeraj;
Singh Malhotra, Hardeep;
Kumar Garg, Ravindra;
Malhotra, Hardeep Singh;
Garg, Ravindra Kumar

Publication type:

journal article

A new diagnostic algorithm for an early diagnosis of patients with fragile X syndrome.

Published in:

2016

By:

Dwivedi, Rama S.

Publication type:

journal article

Preimplantation genetic diagnosis for fragile Xa syndrome: difficult but not impossible.

Published in:

2002

By:

Platteau, Peter;
Sermon, Karen;
Seneca, Sara;
Van Steirteghem, André;
Devroey, Paul;
Liebaers, Inge

Publication type:

journal article

Clinical applications of fetal sex determination in maternal blood in a preimplantation genetic diagnosis centre.

Published in:

2002

By:

Tachdjian, Gérard;
Frydman, Nelly;
Audibert, Francıois;
Ray, Pierre;
Kerbrat, Violaine;
Ernault, Pauline;
Frydman, René;
Costa, Jean-Marc;
Audibert, Franciois

Publication type:

journal article

The CpG island of the FMR-1 gene is methylated differently among embryonic tissues: implication for prenatal diagnosis.

Published in:

1994

By:

Iida, Taku;
Nakahori, Yutaka;
Tsutsumi, Osamu;
Taketani, Yuji;
Nakagome, Yasuo;
Iida, T;
Nakahori, Y;
Tsutsumi, O;
Taketani, Y;
Nakagome, Y

Publication type:

journal article

A Drosophila model of Fragile X syndrome exhibits defects in phagocytosis by innate immune cells.

Published in:

Journal of Cell Biology, 2017, v. 216, n. 3, p. 595, doi. 10.1083/jcb.201607093

By:

O'connor, Reed M.;
Stone, Elizabeth F.;
Wayne, Charlotte R.;
Marcinkevicius, Emily V.;
Ulgherait, Matt;
Delventhal, Rebecca;
Pantalia, Meghan M.;
Hill, Vanessa M.;
Zhou, Clarice G.;
Mcallister, Sophie;
Chen, Anna;
Ziegenfuss, Jennifer S.;
Grueber, Wesley B.;
Canman, Julie C.;
Shirasu-Hiza, Mimi M.

Publication type:

Article

Genetic testing of aetiology of intellectual disability in a dedicated physical healthcare outpatient clinic for adults with intellectual disability.

Published in:

Internal Medicine Journal, 2016, v. 46, n. 2, p. 177, doi. 10.1111/imj.12946

By:

Wallace, R. A.

Publication type:

Article

Genetic upregulation of BK channel activity normalizes multiple synaptic and circuit defects in a mouse model of fragile X syndrome.

Published in:

Journal of Physiology, 2016, v. 594, n. 1, p. 83, doi. 10.1113/JP271031

By:

Deng, Pan‐Yue;
Klyachko, Vitaly A.

Publication type:

Article

Early identification of autism in fragile X syndrome: a review.

Published in:

Journal of Intellectual Disability Research, 2013, v. 57, n. 9, p. 803, doi. 10.1111/j.1365-2788.2012.01609.x

By:

McCary, L. M.;
Roberts, J. E.

Publication type:

Article

Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome.

Published in:

Nutrients, 2020, v. 12, n. 10, p. 3136, doi. 10.3390/nu12103136

By:

Westmark, Cara J.;
Kniss, Chad;
Sampene, Emmanuel;
Wang, Angel;
Milunovich, Amie;
Elver, Kelly;
Hessl, David;
Talboy, Amy;
Picker, Jonathon;
Haas-Givler, Barbara;
Esler, Amy;
Gropman, Andrea L.;
Uy, Ryan;
Erickson, Craig;
Velinov, Milen;
Tartaglia, Nicole;
Berry-Kravis, Elizabeth M.

Publication type:

Article