Works matching Fragile X syndrome and genetics

Results: 303

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

Aspecte clinico-genetice în sindromul X fragil la copii.

Published in:

Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2025, v. 31, n. 1, p. 45

By:

Sprincean, Mariana;
Hadjiu, Svetlana;
Sprincean, Serghei;
CălcîI, Cornelia;
Vasilachi, Dorina;
Badan, Liliana;
Balica, Natalia;
Constantin, Olga;
Capestru, Elena;
Istratiuc, Irina;
Racoviță, Stela;
Dumitraș, Aliona;
Revenco, Ninel;
Groppa, St.

Publication type:

Article

Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations.

Published in:

Genes, 2016, v. 7, n. 12, p. 110, doi. 10.3390/genes7120110

By:

Macpherson, James N.;
Murray, Anna

Publication type:

Article

Genetic Counseling for Families of Patients With Fragile X Syndrome.

Published in:

2004

By:

Hagerman, Paul J.;
Hagerman, Randi J.;
Gane, Louise W.

Publication type:

Abstract

Clinical and Molecular Genetic Characterization of a Female with Fragile X Syndrome and Two Expanded Alleles: A Case Report.

Published in:

Journal of Basic Research in Medical Sciences, 2024, v. 11, n. 4, p. 12

By:

Nozari, Ahoura;
Hassani, Mahdich;
Hagh, Javad Karimzad;
Sadeghi, Alireza;
Jalilian, Narges

Publication type:

Article

Systematic Review: Fragile X Syndrome Across the Lifespan with a Focus on Genetics, Neurodevelopmental, Behavioral and Psychiatric Associations.

Published in:

2025

By:

Genovese, Ann C.;
Butler, Merlin G.

Publication type:

Literature Review

Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors.

Published in:

Journal of Genetic Counseling, 2005, v. 14, n. 4, p. 249, doi. 10.1007/s10897-005-4802-x

By:

Allyn McConkie-Rosell;
Brenda Finucane;
Amy Cronister;
Liane Abrams;
Robin Bennett;
Barbara Pettersen

Publication type:

Article

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 478, doi. 10.1038/ejhg.2012.189

By:

Hawkins, Malcolm;
Boyle, Jennifer;
Wright, Kathleen E;
Elles, Rob;
Ramsden, Simon C;
O'Grady, Anna;
Sweeney, Michael;
Barton, David E;
Burgess, Trent;
Moore, Melanie;
Burns, Chris;
Stacey, Glyn;
Gray, Elaine;
Metcalfe, Paul;
Hawkins, J Ross

Publication type:

Article

Genetic Counseling for Families of Patients With Fragile X Syndrome.

Published in:

2004

By:

Barrett, Shannon K.;
Drazin, Tamara;
Rosa, Deborah;
Kupchik, Gabriel S.

Publication type:

Letter

Brain Mitochondrial Bioenergetics in Genetic Neurodevelopmental Disorders: Focus on Down, Rett and Fragile X Syndromes.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 12488, doi. 10.3390/ijms241512488

By:

Valenti, Daniela;
Vacca, Rosa Anna

Publication type:

Article

BASES GENÉTICAS Y BIOLÓGICAS DEL SÍNDROME DE X FRÁGIL.

Published in:

Ciencia en Desarrollo, 2012, v. 4, n. 1, p. 9

By:

Forero Castro, Ruth Maribel;
Vergara Estupiñán, Edwin Javier;
Moreno Granados, Jefer Iván

Publication type:

Article

High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations.

Published in:

2023

By:

Shieh, Meg;
Amkraut, Keren;
Spiridigliozzi, Gail A.;
Adayev, Tatyana;
Nicholson, Kaylea;
McConkie‐Rosell, Allyn;
McDonald, Marie;
Pennington, Malinda;
Sebastian, Siby;
Lachiewicz, Ave M.

Publication type:

Case Study

Preimplantation genetic diagnosis for fragile X syndrome using multiplex nested PCR.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2007, v. 14, n. 4, p. 515, doi. 10.1016/S1472-6483(10)60901-7

By:

Malcov, Mira;
Naiman, Tova;
Yosef, Dalit Ben;
Carmon, Ariella;
Mey-Raz, Nava;
Amit, Ami;
Vagman, Israel;
Yaron, Yuval

Publication type:

Article

Fragile X Syndrome: Molecular Analysis Reveals a New Mechanism of Mutation in Human Genetic Diseases.

Published in:

Annals of Medicine, 1992, v. 24, n. 6, p. 453, doi. 10.3109/07853899209166994

By:

Poustka, Annemarie

Publication type:

Article

Communication of Genetic Risk Information to Daughters in Families with Fragile X Syndrome: The Parent's Perspective.

Published in:

Journal of Genetic Counseling, 2011, v. 20, n. 1, p. 58, doi. 10.1007/s10897-010-9326-9

By:

McConkie-Rosell, Allyn;
Giorno, Jacqueline;
Heise, Elizabeth

Publication type:

Article

Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors.

Published in:

Journal of Genetic Counseling, 2000, v. 9, n. 4, p. 303, doi. 10.1023/A:1009454112907

By:

McIntosh, Nathalie;
Gane, Louise;
McConkie-Rosell, Allyn;
Bennett, Robin

Publication type:

Article

Fragile X syndrome: genetic and clinical profile in the Hong Kong Chinese population.

Published in:

Hong Kong Medical Journal, 2025, v. 31, n. 3, p. 199, doi. 10.12809/hkmj2411942

By:

Au, Candice W. M.;
Luk, H. M.;
Ho, Stephanie;
Cheng, S. W.;
Lam, Stephen T. S.;
Chung, Brian H. Y.;
Chong, S. C.;
Lo, Ivan F. M.

Publication type:

Article

Fragile X syndrome in the largest world clustering. I. Genetic epidemiology and founder effect outline.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63523

By:

Ramírez‐Cheyne, Julián;
López, Diana;
Payán‐Gómez, César;
Arcos‐Burgos, Mauricio;
Saldarriaga, Wilmar

Publication type:

Article

Genetic Removal of Matrix Metalloproteinase 9 Rescues the Symptoms of Fragile X Syndrome in a Mouse Model.

Published in:

Journal of Neuroscience, 2014, v. 34, n. 30, p. 9867, doi. 10.1523/JNEUROSCI.1162-14.2014

By:

Sidhu, Harpreet;
Dansie, Lorraine E.;
Hickmott, Peter W.;
Ethell, Douglas W.;
Ethell, Iryna M.

Publication type:

Article

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.

Published in:

2007

By:

Berry-Kravis, Elizabeth;
Abrams, Liane;
Coffey, Sarah M.;
Hall, Deborah A.;
Greco, Claudia;
Gane, Louise W.;
Grigsby, Jim;
Bourgeois, James A.;
Finucane, Brenda;
Jacquemont, Sebastien;
Brunberg, James A.;
Zhang, Lin;
Lin, Janet;
Tassone, Flora;
Hagerman, Paul J.;
Hagerman, Randi J.;
Leehey, Maureen A.

Publication type:

journal article

Pain and gain of predictive genetic testing: Particular case of fragile X syndrome.

Published in:

2024

By:

Bouayed Abdelmoula, N.;
Ramma, N.;
Abdelmoula, B.

Publication type:

Abstract

Psychopathology in fragile X syndrome. Experience in a genetic disorders unit from a children and adolescent mental health center.

Published in:

European Psychiatry, 2020, v. 63, p. S325

By:

Oscoz Irurozqui, M.;
Urraca Camps, L.;
Pujol Serra, S.;
Colomina Llobell, C.;
Pàmias Massana, M.;
Palao Vidal, D.

Publication type:

Article

Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR.

Published in:

Experimental & Therapeutic Medicine, 2018, v. 15, n. 6, p. 5107, doi. 10.3892/etm.2018.6060

By:

Miao, Zhengyou;
Liu, Xiaodan;
Li, Weiwei;
He, Qunyan;
Liu, Xia

Publication type:

Article

Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 87, doi. 10.1038/jhg.2010.140

By:

Martorell, Loreto;
Nascimento, María T;
Colome, Roser;
Genovés, Jordi;
Naudó, Montserrat;
Nascimento, Andrés

Publication type:

Article

EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 417, doi. 10.1038/ejhg.2014.185

By:

Biancalana, Valérie;
Glaeser, Dieter;
McQuaid, Shirley;
Steinbach, Peter

Publication type:

Article

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 10, doi. 10.1038/ejhg.2010.135

By:

Hawkins, Malcolm;
Boyle, Jennifer;
Wright, Kathleen E,;
Elles, Rob;
Ramsden, Simon C,;
O'Grady, Anna;
Sweeney, Michael;
Barton, David E,;
Burgess, Trent;
Moore, Melanie;
Burns, Chris;
Stacey, Glyn;
Gray, Elaine;
Metcalfe, Paul;
Hawkins, J. Ross

Publication type:

Article

Genetic Diversity of the Fragile X Syndrome Gene ( FMR1) in a Large Sub-Saharan West African Population.

Published in:

Annals of Human Genetics, 2010, v. 74, n. 4, p. 316, doi. 10.1111/j.1469-1809.2010.00582.x

By:

Peprah, Emmanuel K.;
Allen, Emily G.;
Williams, Scott M.;
Woodard, Laresa M.;
Sherman, Stephanie L.

Publication type:

Article

Neurobiology of Fragile X syndrome: From molecular genetics to neurobehavioral phenotype.

Published in:

Microscopy Research & Technique, 2002, v. 57, n. 3, p. 131, doi. 10.1002/jemt.10065

By:

Kaufmann, Walter E.

Publication type:

Article

Frajil X Sendromu: Moleküler ve Klinik Genetik Yönleri.

Published in:

Gümüshane Üniversitesi Saglik Bilimleri Dergisi, 2018, v. 7, n. 4, p. 74

By:

KURTOĞLU, Elçin Latife;
DEMİRAL, Emine;
TEKEDERELİ, İbrahim

Publication type:

Article

Fragile X-Premutation Tremor/Ataxia Syndrome (Fxtas) in a Young Woman: Clinical, Genetics, Mri and 1H-Mr Spectroscopy Correlates.

Published in:

Collegium Antropologicum, 2011, v. 35, p. 327

By:

Šarac, Helena;
Henigsberg, Neven;
Markeljević, Jasenka;
Pavliša, Goran;
Hof, Patric R.;
Šimić, Goran

Publication type:

Article

Editorial for the Fragile X Syndrome Genetics Special Issue: May 2023.

Published in:

2023

By:

Godler, David E.;
Brown, William T.

Publication type:

Editorial

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis.

Published in:

2021

By:

Tabolacci, Elisabetta;
Pomponi, Maria Grazia;
Remondini, Laura;
Pietrobono, Roberta;
Orteschi, Daniela;
Nobile, Veronica;
Pucci, Cecilia;
Musto, Elisa;
Pane, Marika;
Mercuri, Eugenio M.;
Neri, Giovanni;
Genuardi, Maurizio;
Chiurazzi, Pietro;
Zollino, Marcella

Publication type:

Case Study

Genetic counseling for families of patients with fragile X syndrome.

Published in:

2004

By:

Barrett SK;
Drazin T;
Rosa D;
Kupchik GS;
Hagerman PJ;
Hagerman RJ;
Gane LW;
Barrett, Shannon K;
Drazin, Tamara;
Rosa, Deborah;
Kupchik, Gabriel S

Publication type:

commentary

Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome.

Published in:

Journal of Neurodevelopmental Disorders, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s11689-018-9240-2

By:

del Hoyo Soriano, Laura;
Thurman, Angela John;
Harvey, Danielle Jenine;
Ted Brown, W.;
Abbeduto, Leonard

Publication type:

Article

ACOG committee opinion. Fragile X syndrome. American College of Obstetricians and Gynecologists Committee on Genetics.

Published in:: 1996
Publication type:: journal article

Divergence in cytogenetic and molecular genetic analysis results: a case report of Fragile X Syndrome among siblings.

Published in:

2010

By:

Hikmah EM;
Norhashimah M;
Mariam IS;
Razak S;
Sudhikaran W;
Limprasert P;
Ankathil R;
Zilfalil BA

Publication type:

Journal Article

Divergence in Cytogenetic and Molecular Genetic Analysis Results: A Case Report of Fragile X Syndrome among Siblings.

Published in:

International Medical Journal, 2010, v. 17, n. 2, p. 135

By:

Hikmah, Elias Marjanu;
Norhashimah, Mamat;
Mariam, Ismail Siti;
Razak, Salmi;
Sudhikaran, Wanna;
Limprasert, Pornprot;
Ankathil, Ravindran;
Zilfalil, Bin Alwi

Publication type:

Article

Clinical and Genetic Characteristics of Young Children with Fragile X Syndrome.

Published in:

Annals of Child Neurology, 2021, v. 29, n. 3, p. 134, doi. 10.26815/acn.2021.00353

By:

Lee, So-Hee;
Jeong, Ji-Eun;
Jang, Yoon-Young;
Kim, Jin-Kyung

Publication type:

Article

Offering reproductive genetic carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome: Views of Victorian general practitioners.

Published in:

Australian Journal of General Practice, 2024, v. 53, p. S78, doi. 10.31128/ajgp-10-23-6989

By:

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

Publication type:

Article

The fragile X syndrome: implications of molecular genetics for the clinical syndrome.

Published in:

European Journal of Clinical Investigation, 1994, v. 24, n. 1, p. 1, doi. 10.1111/j.1365-2362.1994.tb02052.x

By:

ROUSSEAU, F.

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

Genetic background mutations drive neural circuit hyperconnectivity in a fragile X syndrome model.

Published in:

BMC Biology, 2020, v. 18, n. 1, p. 1, doi. 10.1186/s12915-020-00817-0

By:

Kennedy, Tyler;
Rinker, David;
Broadie, Kendal

Publication type:

Article

Preimplantation genetic diagnosis for fragile X syndrome: is there increased transmission of abnormal FMR1 alleles among female heterozygotes?

Published in:

Prenatal Diagnosis, 2009, v. 29, n. 1, p. 57, doi. 10.1002/pd.2179

By:

Reches, Adi;
Malcov, Mira;
Ben-Yosef, Dalit;
Azem, Foad;
Amit, Ami;
Yaron, Yuval

Publication type:

Article

Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 6, p. 504, doi. 10.1002/pd.111

By:

Apessos, A.;
Abou-Sleiman, P. M.;
Harper, J. C.;
Delhanty, J. D. A.

Publication type:

Article

Molecular genetic analysis of mentally retarded males with features of the fragile--X syndrome.

Published in:

Journal of Intellectual Disability Research, 1995, v. 39, n. 6, p. 544, doi. 10.1111/j.1365-2788.1995.tb00576.x

By:

Butler, M.G.;
Pratesi, R.;
Vnencak-Jones, C.L.

Publication type:

Article

Diagnostic, carrier and prenatal genetic testing for fragile X syndrome and other FMR-1-related disorders in Johannesburg, South Africa: A 20-year review.

Published in:

SAMJ: South African Medical Journal, 2013, p. 994, doi. 10.7196/SAMJ.7144

By:

Essop, F. B.;
Krause, A.

Publication type:

Article

'It's about having the choice': Stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 48, doi. 10.1002/ajmg.a.35674

By:

Archibald, Alison D.;
Hickerton, Chriselle L.;
Jaques, Alice M.;
Wake, Samantha;
Cohen, Jonathan;
Metcalfe, Sylvia A.

Publication type:

Article

Conflicts regarding genetic counseling for fragile X syndrome screening: A survey of clinical geneticists and genetic counselors in Israel.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2154, doi. 10.1002/ajmg.a.34155

By:

Lieberman, Sari;
Zuckerman, Shachar;
Levy-Lahad, Ephrat;
Altarescu, Gheona

Publication type:

Article

Fragile X syndrome and autism at the intersection of genetic and neural networks.

Published in:

Nature Neuroscience, 2006, v. 9, n. 10, p. 1221, doi. 10.1038/nn1765

By:

Belmonte, Matthew K.;
Bourgeron, Thomas

Publication type:

Article

Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model.

Published in:

Genes, Brain & Behavior, 2012, v. 11, n. 5, p. 586, doi. 10.1111/j.1601-183X.2012.00781.x

By:

Goebel-Goody, S. M.;
Wilson-Wallis, E. D.;
Royston, S.;
Tagliatela, S. M.;
Naegele, J. R.;
Lombroso, P. J.

Publication type:

Article