Works matching DE "DIAGNOSIS of fragile X syndrome"

Results: 91

The impact of FMR1 gene mutations on human reproduction and development: a systematic review.

Published in:

Journal of Assisted Reproduction & Genetics, 2016, v. 33, n. 9, p. 1135, doi. 10.1007/s10815-016-0765-6

By:

Noto, Vincenzo;
Harrity, Conor;
Walsh, David;
Marron, Kevin

Publication type:

Article

AMH in women with diminished ovarian reserve: potential differences by FMR1 CGG repeat level.

Published in:

Journal of Assisted Reproduction & Genetics, 2014, v. 31, n. 10, p. 1295, doi. 10.1007/s10815-014-0276-2

By:

Pastore, Lisa;
McMurry, Timothy;
Williams, Christopher;
Baker, Valerie;
Young, Steven

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

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

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

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

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

The role of glutamate and its receptors in autism and the use of glutamate receptor antagonists in treatment.

Published in:

Journal of Neural Transmission, 2014, v. 121, n. 8, p. 891, doi. 10.1007/s00702-014-1216-0

By:

Rojas, Donald

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

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

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

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

Fragile X carrier screening in Korean women of reproductive age.

Published in:

Journal of Medical Screening, 2013, v. 20, n. 1, p. 15, doi. 10.1177/0969141313488364

By:

Kim, Mi Jin;
Kim, Do Jin;
Kim, Shin Young;
Yang, Jae Hyug;
Kim, Min Hyoung;
Lee, Si Won;
Jeong, Sin Ok;
Park, So Yeon;
Ryu, Hyun Mee

Publication type:

Article

Three peaks in the polymerase chain reaction fragile X analysis.

Published in:

Journal of Medical Screening, 2012, v. 19, n. 3, p. 112, doi. 10.1258/jms.2012.012029

By:

Sharony, Reuven;
Shtorch, Atalia;
Amiel, Aliza;
Guetta, Esther;
Peleg, Leah;
Pras, Elon;
Ries-Levavi, Liat

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

Positron Emission Tomography (PET) Quantification of GABA<sub>A</sub> Receptors in the Brain of Fragile X Patients.

Published in:

PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131486

By:

D’Hulst, Charlotte;
Heulens, Inge;
Van der Aa, Nathalie;
Goffin, Karolien;
Koole, Michel;
Porke, Kathleen;
Van De Velde, Marc;
Rooms, Liesbeth;
Van Paesschen, Wim;
Van Esch, Hilde;
Van Laere, Koen;
Kooy, R. Frank

Publication type:

Article

Molecular Diagnosis of Fragile X Syndrome in Subjects with Intellectual Disability of Unknown Origin: Implications of Its Prevalence in Regional Pakistan.

Published in:

PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0122213

By:

Kanwal, Madiha;
Alyas, Saadia;
Afzal, Muhammad;
Mansoor, Atika;
Abbasi, Rashda;
Tassone, Flora;
Malik, Sajid;
Mazhar, Kehkashan

Publication type:

Article

What is the threshold of mature oocytes to obtain at least one healthy transferable cleavage-stage embryo after preimplantation genetic testing for fragile X syndrome?

Published in:

2021

By:

Sonigo, C;
Mayeur, A;
Sadoun, M;
Pinto, M;
Benguigui, J;
Frydman, N;
Monnot, S;
Benachi, A;
Steffann, J;
Grynberg, M

Publication type:

journal article

The ovarian response in fragile X patients and premutation carriers undergoing IVF-PGD: reappraisal.

Published in:

2017

By:

Avraham, Sarit;
Almog, Benny;
Reches, Adi;
Zakar, Liat;
Malcov, Mira;
Sokolov, Amit;
Alpern, Sharon;
Azem, Foad

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

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

Neuropsychiatry of fragile X-premutation carriers with and without fragile X-associated tremor–ataxia syndrome: implications for neuropsychology.

Published in:

Clinical Neuropsychologist, 2016, v. 30, n. 6, p. 913, doi. 10.1080/13854046.2016.1192134

By:

Bourgeois, James A.

Publication type:

Article

Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders.

Published in:

Clinical Neuropsychologist, 2016, v. 30, n. 6, p. 849, doi. 10.1080/13854046.2016.1202239

By:

Robertson, Erin E.;
Hall, Deborah A.;
McAsey, Andrew R.;
O’Keefe, Joan A.

Publication type:

Article

Clinically significant psychiatric symptoms among male carriers of the fragile X premutation, with and without FXTAS, and the mediating influence of executive functioning.

Published in:

Clinical Neuropsychologist, 2016, v. 30, n. 6, p. 944, doi. 10.1080/13854046.2016.1185100

By:

Grigsby, Jim;
Brega, Angela G.;
Bennett, Rachael E.;
Bourgeois, James A.;
Seritan, Andreea L.;
Goodrich, Glenn K.;
Hagerman, Randi J.

Publication type:

Article

Fragile X-associated tremor/ataxia syndrome: another phenotype of the fragile X gene.

Published in:

Clinical Neuropsychologist, 2016, v. 30, n. 6, p. 810, doi. 10.1080/13854046.2016.1186661

By:

Hessl, David;
Grigsby, Jim

Publication type:

Article

The fragile X mental retardation 1 gene ( FMR1 ): historical perspective, phenotypes, mechanism, pathology, and epidemiology.

Published in:

Clinical Neuropsychologist, 2016, v. 30, n. 6, p. 815, doi. 10.1080/13854046.2016.1184652

By:

Grigsby, Jim

Publication type:

Article

Fragile X tremor ataxia syndrome and white matter dementia.

Published in:

Clinical Neuropsychologist, 2016, v. 30, n. 6, p. 901, doi. 10.1080/13854046.2016.1165805

By:

Filley, Christopher M.

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

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

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

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

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

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

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

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

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

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

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

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

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program.

Published in:

Australian Journal of Primary Health, 2022, v. 28, n. 6, p. 580, doi. 10.1071/PY21247

By:

Leibowitz, Ruth;
Lewis, Sharon;
Emery, Jon;
Massie, John;
Smith, Melanie;
Delatycki, Martin;
Archibald, Alison

Publication type:

Article

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

Published in:

2017

By:

Connon, P.;
Larner, A. J.

Publication type:

Case Study