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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 8, 2024. (Total: 234175Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Lissencephaly and TUBA1A[original query]
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
Clinical genetics 2008 Nov 74 (5): 425-33.
Morris-Rosendahl D J, Najm J, Lachmeijer A M A, Sztriha L, Martins M, Kuechler A, Haug V, Zeschnigk C, Martin P, Santos M, Vasconcelos C, Omran H, Kraus U, Van der Knaap M S, Schuierer G, Kutsche K, Uyanik
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Genetics in medicine : official journal of the American College of Medical Genetics 2018 Apr .
Di Donato Nataliya, Timms Andrew E, Aldinger Kimberly A, Mirzaa Ghayda M, Bennett James T, Collins Sarah, Olds Carissa, Mei Davide, Chiari Sara, Carvill Gemma, Myers Candace T, Rivière Jean-Baptiste, Zaki Maha S, , Gleeson Joseph G, Rump Andreas, Conti Valerio, Parrini Elena, Ross M Elizabeth, Ledbetter David H, Guerrini Renzo, Dobyns William
Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development
Turkish journal of medical sciences 2020 Jul .
Aksel KiliÇarslan Özge, Ataman Esra, GÜrsoy Semra, GÜrbÜz GÜrkan, Ünalp Aycan, GenÇpinar Pinar, OlgaÇ DÜndar NIhal, EdIzer SelvInaz, Ülgenalp Ayfer, GIray Bozkaya Özl
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations.
Seizure 2020 6 80 145-152.
Accogli Andrea, Severino Mariasavina, Riva Antonella, Madia Francesca, Balagura Ganna, Iacomino Michele, Carlini Barbara, Baldassari Simona, Giacomini Thea, Croci Carolina, Pisciotta Livia, Messana Tullio, Boni Antonella, Russo Angelo, Bilo Leonilda, Tonziello Rosa, Coppola Antonietta, Filla Alessandro, Mecarelli Oriano, Casalone Rosario, Pisani Francesco, Falsaperla Raffaele, Marino Silvia, Parisi Pasquale, Ferretti Alessandro, Elia Maurizio, Luchetti Anna, Milani Donatella, Vanadia Francesca, Silvestri Laura, Rebessi Erika, Parente Eliana, Vatti Giampaolo, Mancardi Maria Margherita, Nobili Lino, Capra Valeria, Salpietro Vincenzo, Striano Pasquale, Zara Federi
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.
Journal of human genetics 2024 8 .
Shogo Furukawa, Mitsuhiro Kato, Akihiko Ishiyama, Tomohiro Kumada, Takeshi Yoshida, Eri Takeshita, Pin Fee Chong, Hideo Yamanouchi, Yuko Kotake, Takayoshi Kyoda, Toshihiro Nomura, Yohane Miyata, Mitsuko Nakashima, Hirotomo Sait
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