Works about DIAGNOSIS of fragile X syndrome

Results: 90

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

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

Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center.

Published in:

Journal of Autism & Developmental Disorders, 2022, v. 52, n. 11, p. 4828, doi. 10.1007/s10803-021-05337-6

By:

Du, Xiaoli;
Glass, Jennifer Elaine;
Balow, Stephanie;
Dyer, Lisa M.;
Rathbun, Pamela A.;
Guan, Qiaoning;
Liu, Jie;
Wu, Yaning;
Dawson, D. Brian;
Walters-Sen, Lauren;
Smolarek, Teresa A.;
Zhang, Wenying

Publication type:

Article

Restricted and Repetitive Behaviors in Males and Females with Fragile X Syndrome: Developmental Trajectories in Toddlers Through Young Adults.

Published in:

Journal of Autism & Developmental Disorders, 2020, v. 50, n. 11, p. 3957, doi. 10.1007/s10803-020-04459-7

By:

Moskowitz, Lauren J.;
Will, Elizabeth A.;
Black, Conner J.;
Roberts, Jane E.

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

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

Dysregulation of FMRP/mTOR Signaling Cascade in Hypoxic-Ischemic Injury of Premature Human Brain.

Published in:

Journal of Child Neurology, 2016, v. 31, n. 4, p. 426, doi. 10.1177/0883073815596617

By:

Lechpammer, Mirna;
Wintermark, Pia;
Merry, Katherine M.;
Jackson, Michele C.;
Jantzie, Lauren L.;
Jensen, Frances E.

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

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

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

Epidemiology and economic burden of fragility fractures in Austria.

Published in:

Osteoporosis International, 2022, v. 33, n. 3, p. 637, doi. 10.1007/s00198-021-06152-6

By:

Muschitz, C.;
Hummer, M.;
Grillari, J.;
Hlava, A.;
Birner, A. H.;
Hemetsberger, M.;
Dimai, H. P.

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

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

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

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

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

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

Published in:

2011

By:

Raspberry, Kelly;
Skinner, Debra

Publication type:

Journal Article

Attitudes toward population screening among people living with fragile X syndrome in the UK: 'I wouldn't wish him away, I'd just wish his fragile X syndrome away'.

Published in:

Journal of Genetic Counseling, 2021, v. 30, n. 1, p. 85, doi. 10.1002/jgc4.1355

By:

Boardman, Felicity K.

Publication type:

Article

A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors.

Published in:

Journal of Genetic Counseling, 2017, v. 26, n. 3, p. 501, doi. 10.1007/s10897-016-0005-3

By:

Alfaro Arenas, Ramona;
Rosell Andreo, Jordi;
Heine Suñer, Damián

Publication type:

Article

Diagnosis of Fragile X Syndrome: A Qualitative Study of African American Families.

Published in:

Journal of Genetic Counseling, 2012, v. 21, n. 6, p. 845, doi. 10.1007/s10897-011-9454-x

By:

Visootsak, Jeannie;
Charen, Krista;
Rohr, Julia;
Allen, Emily;
Sherman, Stephanie

Publication type:

Article

Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors.

Published in:

Journal of Genetic Counseling, 2012, v. 21, n. 6, p. 752, doi. 10.1007/s10897-012-9524-8

By:

Finucane, Brenda;
Abrams, Liane;
Cronister, Amy;
Archibald, Alison;
Bennett, Robin;
McConkie-Rosell, Allyn

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

FMR1 gene mutation screening by TP-PCR in patients with premature ovarian failure and fragile-X.

Published in:

Gynecological Endocrinology, 2015, v. 31, n. 3, p. 191, doi. 10.3109/09513590.2014.975685

By:

Tural, Sengul;
Tekcan, Akın;
Kara, Nurten;
Elbistan, Mehmet;
Güven, Davut;
Ali Tasdemir, Haydar

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

Mothers' perspectives on challenging behaviours in their children with fragile X syndrome.

Published in:

Journal of Intellectual & Developmental Disability, 2019, v. 44, n. 4, p. 481, doi. 10.3109/13668250.2018.1496379

By:

Muller, Kristen;
Brady, Nancy C.;
Warren, Steven F.;
Fleming, Kandace K.

Publication type:

Article

French translation and validation of a fragile X syndrome screening checklist.

Published in:

Journal of Intellectual & Developmental Disability, 2019, v. 44, n. 1, p. 92, doi. 10.3109/13668250.2017.1310807

By:

Bellavance, Jacques;
Morin, Diane

Publication type:

Article

Fragile X Syndrome: A Review for General Pediatricians.

Published in:

Pediatric Annals, 2024, v. 53, n. 7, p. e269, doi. 10.3928/19382359-20240502-08

By:

Mendez, Astrid;
Mendez, Magda

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

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

Neural progenitor cells from an adult patient with fragile X syndrome.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 2, doi. 10.1186/1471-2350-6-2

By:

Schwartz, Philip H.;
Tassone, Flora;
Greco, Claudia M.;
Nethercott, Hubert E.;
Ziaeian, Boback;
Hagerman, Randi J.;
Hagerman, Paul J.

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

Psychiatric-legal aspects in the oncological pathology.

Published in:

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

By:

Florescu, Cătălina

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

Burden of illness among patients with fragile X syndrome (FXS): a Medicaid perspective.

Published in:

2016

By:

Nazareth, Tara;
Li, Nanxin;
Marynchenko, Maryna;
Zhou, Zhou;
Chopra, Pooja;
Signorovitch, James;
Wu, Eric;
Ahmed, Saeed;
Marvel, Jessica;
Sasane, Rahul

Publication type:

journal 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

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

Published in:

2017

By:

Connon, P.;
Larner, A. J.

Publication type:

Case Study

Fragile X syndrome: a review of clinical and molecular diagnoses.

Published in:

Italian Journal of Pediatrics, 2017, v. 43, p. 1, doi. 10.1186/s13052-017-0355-y

By:

Ciaccio, Claudia;
Fontana, Laura;
Milani, Donatella;
Tabano, Silvia;
Miozzo, Monica;
Esposito, Susanna

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

Method for the molecular cytogenetic visualization of fragile site FRAXA.

Published in:

Molecular Biology, 2017, v. 51, n. 4, p. 621, doi. 10.1134/S0026893317040069

By:

Bobokova, T.;
Lemskaya, N.;
Kolesnikova, I.;
Yudkin, D.

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

Developmental and Behavioral Pediatricians' Attitudes Toward Screening for Fragile X.

Published in:

American Journal on Intellectual & Developmental Disabilities, 2013, v. 118, n. 4, p. 284, doi. 10.1352/1944-7558-188.4.284

By:

Acharya, Kruti;
Schindler, Abigail

Publication type:

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

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

Fragile X Premutation in Adult Psychiatry: Four Cases and Overview of Clinical Presentation.

Published in:

Turk Psikiyatri Dergisi, 2013, v. 24, n. 1, p. 55

By:

ATBAŞOĞLU, E. Cem;
SAKARYA, Direnç;
AKAY, Güvem GÜMÜŞ;
SAKARYA, Ayşegül;
TÜKÜN, Ajlan

Publication type:

Article