Works matching DE "FRAGILE X syndrome"

Results: 2194

Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility.

Published in:

Nature Structural & Molecular Biology, 2009, v. 16, n. 2, p. 226, doi. 10.1038/nsmb.1527

By:

Voineagu, Irina;
Surka, Christine F;
Shishkin, Alexander A;
Krasilnikova, Maria M;
Mirkin, Sergei M

Publication type:

Article

Social/economic costs and health-related quality of life in patients with fragile X syndrome in Europe.

Published in:

2016

By:

Chevreul, Karine;
Gandré, Coralie;
Brigham, Karen;
López-Bastida, Julio;
Linertová, Renata;
Oliva-Moreno, Juan;
Serrano-Aguilar, Pedro;
Posada-de-la-Paz, Manuel;
Taruscio, Domenica;
Schieppati, Arrigo;
Iskrov, Georgi;
Gulácsi, László;
Schulenburg, Johann;
Kanavos, Panos;
Persson, Ulf;
Fattore, Giovani;
Brigham, Karen Berg;
von der Schulenburg, Johann Matthias Graf;
BURQOL-RD Research Network

Publication type:

journal article

Classroom Behavior of Elementary School-Age Boys with Fragile X Syndrome.

Published in:

Journal of Special Education, 2001, v. 34, n. 4, p. 194, doi. 10.1177/002246690103400402

By:

Symons, Frank J.;
Clark, Renee D.;
Roberts, Jennifer P.;
Bailey, Jr., Donald B.

Publication type:

Article

Comparison of etiology-specific cognitive functioning profiles for individuals with fragile X and...

Published in:

Journal of Special Education, 1997, v. 31, n. 3, p. 362, doi. 10.1177/002246699703100305

By:

Powell, Lesley;
Houghton, Stephen

Publication type:

Article

Population-based FMR1 carrier screening among reproductive women.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 11, p. 3237, doi. 10.1007/s10815-024-03242-2

By:

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

Publication type:

Article

Fertility preservation for genetic diseases leading to premature ovarian insufficiency (POI).

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 4, p. 759, doi. 10.1007/s10815-021-02067-7

By:

La Marca, Antonio;
Mastellari, Elisa

Publication type:

Article

Are ovarian response and pregnancy rates similar in selected FMR1 premutated and mutated patients undergoing preimplantation genetic testing?

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 7, p. 1675, doi. 10.1007/s10815-020-01809-3

By:

Ranisavljevic, Noemie;
Hess, Mathilde;
Castelli, Christel;
Willems, Marjolene;
Ferrieres-Hoa, Alice;
Girardet, Anne;
Anahory, Tal

Publication type:

Article

An explanation of the mechanisms underlying fragile X-associated premature ovarian insufficiency.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 6, p. 1313, doi. 10.1007/s10815-020-01774-x

By:

Rose, Bruce I.;
Brown, Samuel E.

Publication type:

Article

Defining the role of FMR1 gene in unexplained recurrent spontaneous abortion.

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 11, p. 2245, doi. 10.1007/s10815-019-01591-x

By:

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

Publication type:

Article

Use of human-derived stem cells to create a novel, in vitro model designed to explore FMR1 CGG repeat instability amongst female premutation carriers.

Published in:

Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 8, p. 1443, doi. 10.1007/s10815-018-1237-y

By:

Gustin, Stephanie L. F.;
Wang, Guangwen;
Baker, Valerie M.;
Latham, Gary;
Sebastiano, Vittorio

Publication type:

Article

Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency.

Published in:

Journal of Assisted Reproduction & Genetics, 2017, v. 34, n. 3, p. 315, doi. 10.1007/s10815-016-0854-6

By:

Hoyos, Luis;
Thakur, Mili

Publication type:

Article

The importance of redundancy of functional ovarian reserve when investigating potential genetic effects on ovarian function.

Published in:

2016

By:

Barad, David;
Kushnir, Vitaly;
Gleicher, Norbert

Publication type:

Editorial

Live birth following serial vitrification of embryos and PGD for fragile X syndrome in a patient with the premutation and decreased ovarian reserve.

Published in:

Journal of Assisted Reproduction & Genetics, 2013, v. 30, n. 11, p. 1439, doi. 10.1007/s10815-013-0079-x

By:

Nayot, Dan;
Chung, Jin Tae;
Son, Weon-Young;
Ao, Assangla;
Hughes, Mark;
Dahan, Michael H.

Publication type:

Article

Mitochondrial dysfunction in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome: prospect use of antioxidants and mitochondrial nutrients.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09415-7

By:

Pagano, Giovanni;
Lyakhovich, Alex;
Pallardó, Federico V.;
Tiano, Luca;
Zatterale, Adriana;
Trifuoggi, Marco

Publication type:

Article

Nucleosomal occupancy and CGG repeat expansion: a comparative analysis of triplet repeat region from mouse and human fragile X mental retardation gene 1.

Published in:

Chromosome Research, 2011, v. 19, n. 4, p. 445, doi. 10.1007/s10577-011-9206-7

By:

Datta, Sonal;
Alam, Mohammad;
Majumdar, Subeer;
Mehta, Abhishek;
Maiti, Souvik;
Wadhwa, Neerja;
Brahmachari, Vani

Publication type:

Article

Increased iron content in the heart of the Fmr1 knockout mouse.

Published in:

BioMetals, 2021, v. 34, n. 4, p. 947, doi. 10.1007/s10534-021-00320-1

By:

Talvio, Karo;
Kanninen, Katja M.;
White, Anthony R.;
Koistinaho, Jari;
Castrén, Maija L.

Publication type:

Article

Family/caregiver influence on osteoporosis management for older people: an integrative review.

Published in:

Osteoporosis International, 2024, v. 35, n. 7, p. 1153, doi. 10.1007/s00198-024-07081-w

By:

Zubick, Paula;
Dahlke, Sherry

Publication type:

Article

The impact of prior fragility fractures on long-term periprosthetic fracture risk following total knee arthroplasty.

Published in:

Osteoporosis International, 2023, v. 34, n. 8, p. 1429, doi. 10.1007/s00198-023-06746-2

By:

Agarwal, Amil R.;
Cohen, Jordan S.;
Tarawneh, Omar H.;
Gu, Alex;
Debritz, James;
Golladay, Gregory J.;
Thakkar, Savyasachi C.

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

Socio-economic inequalities in fragility fracture incidence: a systematic review and meta-analysis of 61 observational studies.

Published in:

Osteoporosis International, 2021, v. 32, n. 12, p. 2433, doi. 10.1007/s00198-021-06038-7

By:

Valentin, G.;
Ravn, M.B.;
Jensen, E.K.;
Friis, K.;
Bhimjiyani, A.;
Ben-Shlomo, Y.;
Hartley, A.;
Nielsen, C.P.;
Langdahl, B.;
Gregson, C.L.

Publication type:

Article

Hypophosphatasia: Canadian update on diagnosis and management.

Published in:

Osteoporosis International, 2019, v. 30, n. 9, p. 1713, doi. 10.1007/s00198-019-04921-y

By:

Khan, A.A.;
Josse, R.;
Kannu, P.;
Villeneuve, J.;
Paul, T.;
Van Uum, S.;
Greenberg, C.R.

Publication type:

Article

P2X7 expression patterns in the developing Fmr1‐knockout mouse hippocampus.

Published in:

Hippocampus, 2024, v. 34, n. 11, p. 633, doi. 10.1002/hipo.23634

By:

Napier, Matthew;
Kumar, Ashish;
Szulist, Natasha;
Martin, Dale;
Scott, Angela L.

Publication type:

Article

Incorporating FRAX into a nurse-delivered integrated care review: a multi-method qualitative study.

Published in:

BJGP Open, 2023, v. 7, n. 2, p. 1, doi. 10.3399/BJGPO.2022.0146

By:

Hawarden, Ashley;
Bullock, Laurna;
Chew-Graham, Carolyn A.;
Herron, Daniel;
Hider, Samantha;
Jinks, Clare;
De Silva, Risni Erandie Ediriweera;
Machin, Annabelle;
Paskins, Zoe

Publication type:

Article

Neocortical localization and thalamocortical modulation of neuronal hyperexcitability contribute to Fragile X Syndrome.

Published in:

Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03395-9

By:

Pedapati, Ernest V.;
Schmitt, Lauren M.;
Ethridge, Lauren E.;
Miyakoshi, Makoto;
Sweeney, John A.;
Liu, Rui;
Smith, Elizabeth;
Shaffer, Rebecca C.;
Dominick, Kelli C.;
Gilbert, Donald L.;
Wu, Steve W.;
Horn, Paul S.;
Binder, Devin K.;
Lamy, Martine;
Axford, Megan;
Erickson, Craig A.

Publication type:

Article

MOLECULAR-GENETIC DIAGNOSTICS OF AUTISM SPECTRUM DISORDERS.

Published in:

Genetics & Applications, 2024, p. 3

By:

Nela, Maksimović;
Dijana, Perović;
Tatjana, Damnjanović

Publication type:

Article

Clinical Characteristics of Fragile X Syndrome Patients in Japan.

Published in:

Yonago Acta Medica, 2021, v. 64, n. 1, p. 30, doi. 10.33160/yam.2021.02.005

By:

Tetsuya Okazaki;
Kaori Adachi;
Kaori Matsuura;
Yoshitaka Oyama;
Madoka Nose;
Emi Shirahata;
Toshiaki Abe;
Takeshi Hasegawa;
Toshiro Maihara;
Yoshihiro Maegaki;
Eiji Nanba

Publication type:

Article

To Look or Not to Look? Typical and Atypical Development of Oculomotor Control.

Published in:

Journal of Cognitive Neuroscience, 2005, v. 17, n. 4, p. 591, doi. 10.1162/0898929053467523

By:

Scerif, Gaia;
Karmiloff-Smith, Annette;
Campos, Ruth;
Elsabbagh, Mayada;
Driver, Jon;
Cornish, Kim

Publication type:

Article

Spontaneous motor-behavior abnormalities in two Drosophila models of neurodevelopmental disorders.

Published in:

Journal of Neurogenetics, 2021, v. 35, n. 1, p. 1, doi. 10.1080/01677063.2020.1833005

By:

Andrew, David R.;
Moe, Mariah E.;
Chen, Dailu;
Tello, Judith A.;
Doser, Rachel L.;
Conner, William E.;
Ghuman, Jaswinder K.;
Restifo, Linda L.

Publication type:

Article

Severe acquired megacolon in fragile X syndrome.

Published in:

ANZ Journal of Surgery, 2022, v. 92, n. 7, p. 1893, doi. 10.1111/ans.17361

By:

Warburton, Thomas M.;
Kandiah, John;
Jacombs, Anita;
FitzGerald, S. C. Kate

Publication type:

Article

β-Amyloid precursor protein (APP) and the human diseases.

Published in:

AIMS Neuroscience, 2019, v. 6, n. 4, p. 273, doi. 10.3934/Neuroscience.2019.4.273

By:

Nguyen, Khue Vu

Publication type:

Article

Reading Profiles in Adolescents with Fragile X Syndrome and Down Syndrome.

Published in:

Anales de Psicología, 2017, v. 33, n. 3, p. 660, doi. 10.6018/analesps.33.3.270721

By:

Puente, Aníbal;
Alvarado, Jesús M.;
Jiménez, Virginia;
Martínez, Lourdes

Publication type:

Article

CHECKLIST ASSESSMENTS OF FMR1 GENE MUTATION PHENOTYPES.

Published in:

Journal of Cultural Diversity, 2008, v. 15, n. 3, p. 117

By:

Thomas Johnson, Vanessa A.

Publication type:

Article

No evidence supports the genetic heterogeneity of Neuronal intranuclear inclusion disease.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 12, p. 2542, doi. 10.1002/acn3.51223

By:

Li, Hao;
Sun, Miao;
Wan, Bo;
Xu, Xingshun

Publication type:

Article

BRAK. EDUKACJA W ZAMĘTACH I ODMĘTACH.

Published in:

Ogrody Nauk i Sztuk, 2021, v. 11, n. 11, p. 7, doi. 10.15503/onis2021.7.12

By:

Kobylarek, Aleksander

Publication type:

Article

Genotype-Driven Recruitment in Population-Based Biomedical Research.

Published in:

2017

By:

Taylor, Holly A.;
Morales, Christian;
Wilfond, Benjamin S.

Publication type:

Case Study

Genotype-Driven Recruitment Without Deception.

Published in:

American Journal of Bioethics, 2017, v. 17, n. 4, p. 60, doi. 10.1080/15265161.2017.1284924

By:

Ossorio, Pilar;
Mailick, Marsha

Publication type:

Article

Genotype-Driven Recruitment and the Disclosure of Individual Research Results.

Published in:

American Journal of Bioethics, 2017, v. 17, n. 4, p. 64, doi. 10.1080/15265161.2017.1284916

By:

Beskow, Laura M.

Publication type:

Article

Risk of Developing Insulin Resistance in Adult Subjects with Phenylketonuria: Machine Learning Model Reveals an Association with Phenylalanine Concentrations in Dried Blood Spots.

Published in:

Metabolites (2218-1989), 2023, v. 13, n. 6, p. 677, doi. 10.3390/metabo13060677

By:

Leal-Witt, María Jesús;
Rojas-Agurto, Eugenia;
Muñoz-González, Manuel;
Peñaloza, Felipe;
Arias, Carolina;
Fuenzalida, Karen;
Bunout, Daniel;
Cornejo, Verónica;
Acevedo, Alejandro

Publication type:

Article

Executive Function and Working Memory Deficits in Females with Fragile X Premutation.

Published in:

Life (2075-1729), 2023, v. 13, n. 3, p. 813, doi. 10.3390/life13030813

By:

Segal, Osnat;
Kowal, Tamar;
Banet-Levi, Yonit;
Gabis, Lidia V.

Publication type:

Article

Light in the Rational Treatment of Autism? Effects of Metformin on Steroid Hormones in a Patient with Polycystic Ovarian Syndrome (PCOS).

Published in:

Life (2075-1729), 2022, v. 12, n. 11, p. 1736, doi. 10.3390/life12111736

By:

Gasser, Benedikt;
Calin, Anca-Elena;
Escher, Genevieve;
Kurz, Johann;
Emmenegger, Aglaia;
Buerki, Samuel;
Schmidt-Trucksäss, Arno;
Mohaupt, Markus

Publication type:

Article

Oculopharyngodistal myopathy caused by CGG repeat expansion in 5'untranslated region of LRP12 gene: four cases report.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2023, v. 23, n. 9, p. 798, doi. 10.3969/j.issn.1672-6731.2023.09.005

By:

YU Jia-xi;
YU Meng;
ZHANG Wei;
YUAN Yun;
DENG Jian-wen;
WANG Zhao-xia

Publication type:

Article

Fragile X Mental Retardation Protein Regulates Olfactory Sensitivity But Not Odorant Discrimination.

Published in:

Chemical Senses, 2015, v. 40, n. 5, p. 345, doi. 10.1093/chemse/bjv019

By:

Nitenson, Arielle Schilit;
Stackpole, Emily E.;
Truszkowski, Torrey L. S.;
Midroit, Maellie;
Fallon, Justin R.;
Bath, Kevin G.

Publication type:

Article

Expressive language in male adolescents with fragile X syndrome with and without comorbid autism.

Published in:

Journal of Intellectual Disability Research, 2010, v. 54, n. 3, p. 246, doi. 10.1111/j.1365-2788.2010.01255.x

By:

Kover, S. T.;
Abbeduto, L.

Publication type:

Article

Motor abilities of children diagnosed with fragile X syndrome with and without autism.

Published in:

Journal of Intellectual Disability Research, 2009, v. 53, n. 1, p. 11, doi. 10.1111/j.1365-2788.2008.01107.x

By:

Zingerevich, C.;
Greiss‐Hess, L.;
Lemons‐Chitwood, K.;
Harris, S. W.;
Hessl, D.;
Cook, K.;
Hagerman, R. J.

Publication type:

Article

Early temperament and negative reactivity in boys with fragile X syndrome.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 842, doi. 10.1111/j.1365-2788.2008.01074.x

By:

Shanahan, M.;
Roberts, J.;
Hatton, D.;
Reznick, J.;
Goldsmith, H.

Publication type:

Article

Newborn screening in Fragile X syndrome.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 814, doi. 10.1111/j.1365-2788.2008.01119_10.x

By:

Tassone, F.;
Hagerman, P. J.;
Hagerman, R. J.

Publication type:

Article

Trial of fenobam, an mGluR5 antagonist, in adults with Fragile X Syndrome.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 814, doi. 10.1111/j.1365-2788.2008.01119_9.x

By:

Hagerman, R.;
Berry‐Kravis, E.;
Hessl, D.;
Coffey, S.;
Schneider, A.;
Nguyen, D.;
Hervey, C.;
Hutchison, J.;
Snape, M.

Publication type:

Article

Commonalities in the neurobiology between autism and fragile X.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 817, doi. 10.1111/j.1365-2788.2008.01120_5.x

By:

Hagerman, R.

Publication type:

Article

The fragile X continuum: new advances and perspectives.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 6, p. 469, doi. 10.1111/j.1365-2788.2008.01056.x

By:

Cornish, K.;
Turk, J.;
Hagerman, R.

Publication type:

Article

Oral Presentations.

Published in:: 2007
Publication type:: Abstract