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Advanced technologies for the molecular diagnosis of fragile X syndrome

• Authors : Tassone, Flora

Subjects: Genetics; Brain Disorders; Behavioral and Social Science

• Source: Expert Review of Molecular Diagnostics. 15(11)

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

• Authors : Kanwal, Madiha; Alyas, Saadia; Afzal, Muhammad

Subjects: Clinical Research; Intellectual and Developmental Disabilities (IDD); Genetics

• Source: PLOS ONE. 10(4)

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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.

• Authors : Leibowitz, Ruth¹ ; Lewis, Sharon^2,3; Emery, Jon⁴

• Source: Australian Journal of Primary Health. 2022, Vol. 28 Issue 6, p580-587. 8p.

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Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion

• Authors : Carroll, Renee; Shaw, Marie; Arvio, Maria ...

Subjects: FMR1; FRAXA; Intragenic variants

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Tremor-Ataxia Syndrome and Primary Ovarian Insufficiency in an FMR1 Premutation Carrier.

• Authors : Saldarriaga-Gil, Wilmar¹ ; Rodriguez-Guerrero, Tatiana²; Fandiño-Losada, Andres³

• Source: Colombia Medica. Jul-Sep2017, Vol. 48 Issue 3, p147-150. 4p.

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

• Authors : Ciaccio, Claudia¹; Fontana, Laura²; Milani, Donatella¹

• Source: Italian Journal of Pediatrics. 4/19/2017, Vol. 43, p1-12. 12p.

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Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction

• Authors : Yael Prawer; Matthew Hunter; Sara Cronin

Subjects: fragile-X syndrome; FMR1 gene; methylation

• Source: Genes, Vol 9, Iss 6, p 287 (2018)

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Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.

• Authors : Jorge, Paula^1,2 ; Garcia, Elsa³ ; Gonçalves, Ana^2,4

• Source: BMC Medical Genetics. 5/10/2018, Vol. 19 Issue 1, pN.PAG-N.PAG. 1p.

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Preimplantation genetic diagnosis for Fragile X syndrome.

• Authors : Fernandez, C.¹; Blanchet, P.²; Anahory, T.³

• Source: Reproductive BioMedicine Online (Reproductive Healthcare Limited). May2010 S1 Supplement, Vol. 20, pS30-S30. 1/3p.

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Test-tube diagnosis.

• Authors : Fackelmann, Kathy A.

• Source: Science News. 10/29/94, Vol. 146 Issue 18, p286. 2p. 3 Black and White Photographs.

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