Results 141 to 150 of about 4,503 (204)

Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai. [PDF]

Hum Genomics
Hua R, Li S, Cui D, Lu Y, Li Y, Lin Y, Gao L, Lv S, Ma R, Mao A, Han X, Wang J, Wang Y.   +12 more
europepmc   +1 more source

A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand. [PDF]

Int J Mol Sci
Hnoonual A, Plong-On O, Tangviriyapaiboon D, Charalsawadi C, Limprasert P.   +4 more
europepmc   +1 more source

Overlapping Pathways: Autism Spectrum Disorder in Fragile X Carrier States and the Need for Greater Awareness. [PDF]

Cureus
Fernandez MV, Sirven A, Pickles B, Hamid S, Nunez Selva A.   +4 more
europepmc   +1 more source

Electroretinographic Findings in Fragile X, Premutation, and Controls: A Study of Biomarker Correlations. [PDF]

Int J Mol Sci
Hasan H, Biag HMB, Santos ER, Randol JL, Ring R, Tassone F, Hagerman PJ, Hagerman RJ.   +7 more
europepmc   +1 more source

Hidden diagnoses among patients with double seronegative myasthenia gravis. [PDF]

Front Neurol
Ivanovic V, Peric S, Briggs C, Marjanovic A, Pesovic J, Basta I, Jansson J, Randhawa S, Rajic S, Gokhale S.   +9 more
europepmc   +1 more source

Personalized Follow Up and Genetic Diagnosis Update of FMR1-Related Conditions: A Change in Diagnosis, Prognosis and Expectations. [PDF]

Int J Mol Sci
Roche-Martínez A, Ramírez-Mallafré A, Joga-Elvira L, Manso-Bazus C, Rubio-Roy M, Baena-Diez N.   +5 more
europepmc   +1 more source

Involvement of the Cerebellar Peduncles in FMR1 Premutation Carriers: A Pictorial Review of Their Anatomy, Imaging, and Pathology. [PDF]

Int J Mol Sci
Paracuellos-Ayala I, Caruana G, Reyes Ortega MM, Hagerman RJ, Wang JY, Rodriguez-Revenga L, Elias-Mas A.   +6 more
europepmc   +1 more source

Improving women's healthcare providers' knowledge about fragile X-associated primary ovarian insufficiency through a novel educational tool. [PDF]

J Assist Reprod Genet
Peery E, Singleton AL, Merkison J, Brockman D, Hipp H, Ali N, Lichten L, Allen EG.   +7 more
europepmc   +1 more source

Biomarkers of balance and gait deficits in <i>FMR1</i> premutation carriers: a mini-review. [PDF]

Front Aging Neurosci
Moore LC, Maltman N, Lee-Confer JS, Kobel MJ.   +3 more
europepmc   +1 more source

Novel variants associated with premature ovarian insufficiency in Russian adolescents. [PDF]

Front Endocrinol (Lausanne)
Tsabai P, Kumykova Z, Averkova V, Pavlova N, Maslennikov D, Bolshakova A, Batyrova Z, Kolpakova T, Bystritskiy A, Karetnikova N, Ekimov A, Goltsov A, Kuznetsova M, Turchinets A, Mukosey I, Kochetkova T, Sadelov I, Shubina J, Uvarova E, Yureneva S, Trofimov D, Sukhikh G.   +21 more
europepmc   +1 more source