Cargando…

Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation

PURPOSE: Women of reproductive age who carry fragile X premutation (PM) alleles have 56 to 200 CGG repeats in the 5′-untranslated region of FMR1 gene are at increased risk for producing children with intellectual disabilities (ID) or autism spectrum disorders (ASD) due to expansion of PM alleles to...

Descripción completa

Detalles Bibliográficos
Autores principales:	Meraj, Neelam, Yasin, Muhammad, Rehman, Zia Ur, Tahir, Haleema, Jadoon, Humaira, Khan, Niamat, Shahid, Rabia, Zubair, Maria, Zulfiqar, Irba, Jabeen, Musarrat, Neelam, Shahzadi, Hameed, Abdul, Saleha, Shamim
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895653/ https://www.ncbi.nlm.nih.gov/pubmed/35246105 http://dx.doi.org/10.1186/s12905-022-01632-1

Ejemplares similares

Fragile X Premutation
por: Tassone, Flora, et al.
Publicado: (2014)

USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families
por: Ahmed, Asif Naveed, et al.
Publicado: (2021)

Cardiovascular Problems in the Fragile X Premutation
por: Tassanakijpanich, Nattaporn, et al.
Publicado: (2020)

Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families
por: Marwan, Muhammad, et al.
Publicado: (2023)

Genomic studies in fragile X premutation carriers
por: Lozano, Reymundo, et al.
Publicado: (2014)

BC RNA Mislocalization in the Fragile X Premutation
por: Muslimov, Ilham A., et al.
Publicado: (2018)

Fragile X Premutation Associated Conditions (FXPAC)
por: Johnson, Kirsten, et al.
Publicado: (2020)

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation
por: Tassone, Flora, et al.
Publicado: (2023)

Clinical and molecular correlates in fragile X premutation females
por: Jiraanont, Poonnada, et al.
Publicado: (2017)

Fragile X Premutation: Medications, Therapy and Lifestyle Advice
por: Sodhi, Deepika Kour, et al.
Publicado: (2021)

Visual motion processing deficits in infants with the fragile X premutation
por: Gallego, Pamela K, et al.
Publicado: (2014)

Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research
por: Saleha, S, et al.
Publicado: (2016)

Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome
por: Berman, Robert F, et al.
Publicado: (2014)

Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers
por: Aishworiya, Ramkumar, et al.
Publicado: (2022)

Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers
por: Polussa, Jonathan, et al.
Publicado: (2014)

X-inactivation in the clinical phenotype of fragile X premutation carrier sisters
por: Hall, Deborah A., et al.
Publicado: (2016)

Executive Function and Working Memory Deficits in Females with Fragile X Premutation
por: Segal, Osnat, et al.
Publicado: (2023)

Diagnostic value of molecular approach in screening for fragile X premutation cases
por: Refeat, Miral M., et al.
Publicado: (2022)

Cerebral Protein Synthesis in a Knockin Mouse Model of the Fragile X Premutation
por: Qin, Mei, et al.
Publicado: (2014)

Spontaneous Coronary Artery Dissection in Females With the Fragile X FMR1 Premutation
por: McKenzie, Forrest J., et al.
Publicado: (2020)

Effects of Preconception Care and Periconception Interventions on Maternal Nutritional Status and Birth Outcomes in Low- and Middle-Income Countries: A Systematic Review
por: Lassi, Zohra S., et al.
Publicado: (2020)

Effects of preconception care and periconception interventions on maternal nutritional status and birth outcomes in low‐ and middle‐income countries: A systematic review
por: Lassi, Zohra S., et al.
Publicado: (2021)

Automated screening for Fragile X premutation carriers based on linguistic and cognitive computational phenotypes
por: Movaghar, Arezoo, et al.
Publicado: (2017)

Clinical and Molecular Correlates of Abnormal Changes in the Cerebellum and Globus Pallidus in Fragile X Premutation
por: Wang, Jun Yi, et al.
Publicado: (2022)

Postoperative pain assessment using four behavioral scales in Pakistani children undergoing elective surgery
por: Shamim, Faisal, et al.
Publicado: (2015)

ATR protects the genome against CGG·CCG-repeat expansion in Fragile X premutation mice
por: Entezam, Ali, et al.
Publicado: (2008)

Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome
por: Chonchaiya, Weerasak, et al.
Publicado: (2010)

MicroRNA-277 Modulates the Neurodegeneration Caused by Fragile X Premutation rCGG Repeats
por: Tan, Huiping, et al.
Publicado: (2012)

Fragile X syndrome: a pilot proton magnetic resonance spectroscopy study in premutation carriers
por: Hallahan, Brian P, et al.
Publicado: (2012)

Activation of mTOR Ameliorates Fragile X Premutation rCGG Repeat-Mediated Neurodegeneration
por: Lin, Yunting, et al.
Publicado: (2013)

FMR1 premutation with Prader–Willi phenotype and fragile X‐associated tremor/ataxia syndrome
por: Martínez‐Cerdeño, Verónica, et al.
Publicado: (2017)

Metabolomic Biomarkers Are Associated With Area of the Pons in Fragile X Premutation Carriers at Risk for Developing FXTAS
por: Zafarullah, Marwa, et al.
Publicado: (2021)

The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness
por: Hessl, David, et al.
Publicado: (2022)

Gender Differences in Education: Are Girls Neglected in Pakistani Society?
por: Pasha, Humaira Kamal
Publicado: (2023)

Preconception care: promoting reproductive planning
por: Dean, Sohni V, et al.
Publicado: (2014)

Preconception care: nutritional risks and interventions
por: Dean, Sohni V, et al.
Publicado: (2014)

Preconception care: preventing and treating infections
por: Lassi, Zohra S, et al.
Publicado: (2014)

Neonatal Cholestasis: The Changing Etiological Spectrum in Pakistani Children
por: Bilal, Hazrat, et al.
Publicado: (2022)

Attitudes of Pakistani and Pakistani heritage medical students regarding professionalism at a medical college in Karachi, Pakistan
por: Akhund, Saima, et al.
Publicado: (2014)

Timing of Expansion of Fragile X Premutation Alleles During Intergenerational Transmission in a Mouse Model of the Fragile X-Related Disorders
por: Zhao, Xiao-Nan, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_jvksdg5qi2ncdr5q6g96g4u7oo