Results 51 to 60 of about 311 (84)

Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families. [PDF]

Int J Mol Sci
Camarillo-Benitez S, Mendez-Catala CF, Chima-Galan MDC, Rivera-Yañez CR, Negrete-Torres N, Arrieta TA, Alcantara-Torres JR, Méndez-Cruz AR, Mendoza-Ramos MI, Tapia-Soto NI, Garrido E, Pedroza-Gonzalez A, Garcia-Romo GS, Reyes-Reali J, Soto-Rojas LO, Pozo-Molina G, Amato D.   +16 more
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Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing. [PDF]

Int J Mol Sci
Antal G, Zsigmond A, Till Á, Szabó A, Maász A, Bene J, Hadzsiev K.   +6 more
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Decoding retinitis pigmentosa: molecular targets and therapy with focus on pre-mRNA splicing. [PDF]

Cell Mol Life Sci
Banik P, Staněk D.
europepmc   +1 more source

Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly. [PDF]

J Clin Invest
Ji L, Yan J, Losurdo NA, Wang H, Liu L, Li K, Liu Z, Guo Z, Xu J, Bibo A, Ren D, Yang K, Luo Y, Yang F, Wang G, Xiang Z, Wang Y, Zhan H, Pan H, Hu J, Zhong J, Abou Jamra R, Zacher P, Musante L, Faletra F, Costa P, Zanus C, Couque N, Ruaud L, Cueto-González AM, San Nicolas Fernández H, Tizzano E, Martinez Gil N, Liu X, Liao W, Abi Farraj L, Huang AY, Zhang L, Murali A, Schmuel E, Han CS, King K, Gu W, Wang P, Li K, Link N, He G, Bian S, Mao X.   +48 more
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Advances in prenatal ultrasound diagnosis of fetal tympanic ring anomalies. [PDF]

Front Med (Lausanne)
Zhang H, Liao R, Li Y, Huang F, Li L, Lyu G.   +5 more
europepmc   +1 more source

Human stem cell model of neural crest cell differentiation reveals a requirement of SF3B4 in survival, maintenance, and differentiation. [PDF]

Dev Dyn
Griffin C, Saint-Jeannet JP.
europepmc   +1 more source

Genetic and environmental factors contributing to anophthalmia and microphthalmia: Current understanding and future directions. [PDF]

World J Clin Pediatr
Goyal S, Tibrewal S, Ratna R, Vanita V.
europepmc   +1 more source

Fibroblast growth factor 8: Multifaceted role in development and developmental disorder. [PDF]

Genes Dis
Yin H, Duan L, Wang Z, Liu L, Shen J.
europepmc   +1 more source

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Mandibulofacial dysostosis with microcephaly: A case presenting with seizures

Brain and Development, 2017
We report a case of mandibulofacial dysostosis with microcephaly presenting with seizures. The proband, a 6-year-old Korean boy, had microcephaly, malar and mandibular hypoplasia, and deafness. He showed developmental delay and had suffered recurrent seizures beginning at 21months of age. Electroencephalography revealed occasional spike discharges from
Nobuhiko Okamoto, Yasushi Itô, Naomichi Matsumoto   +2 more
exaly   +3 more sources