Results 151 to 160 of about 11,896 (240)

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay [PDF]

, 2019
Sangmoon Lee, Dillon Y. Chen, Maha S. Zaki, Reza Maroofian, Henry Houlden, Nataliya Di Donato, Dalia Abdin, Heba Morsy, Ghayda Mirzaa, William B. Dobyns, Jennifer McEvoy‐Venneri, Valentina Stanley, Kiely N. James, Grazia M.S. Mancini, Rachel Schot, Tuğba Kalaycı, Umut Altunoğlu, Ehsan Ghayoor Karimiani, Lauren Brick, Mariya Kozenko, Yalda Jamshidi, M. Chiara Manzini, Mehran Beiraghi Toosi, Joseph G. Gleeson   +23 more
openalex   +1 more source

Fetal malformations of cortical development: review and clinical guidance. [PDF]

Brain
Russ JB, Agarwal S, Venkatesan C, Scelsa B, Vollmer B, Tarui T, Pardo AC, Lemmon ME, Mulkey SB, Hart AR, Nagaraj UD, Kuller JA, Whitehead MT, Cohen JL, Gebb JS, Glenn OA, Norton ME, Gano D.   +17 more
europepmc   +1 more source

Lissencephaly-1 gene is required for establishment of axis formation in drosophila melanogaster [PDF]

, 2016
Shereen Mohamed, Ibrahim El, Abd El, Wahab Hassan, Hoda A. S. El-Garhy, Kh. Fahmy, Kh Fahmy, M Adams, E Celniker, A Holl, C Evans, J Gocayne, P Amanatides, M Ashburner, A Brand, N Perrimon, S Chen, S Kaneko, X Ma, X Chen, I Tony, L Xu, T Xie, W Driever, K Fahmy, M Akber, X Cai, A Koul, A Hayder, S Baumgartner, T Gregor, E Wieschaus, A Gregor, W Bialek, D Tank, M Hattori, H Adachi, M Tsujimoto, H Arai, K Inoue, N Kim, P Shim, B Jeon, W Choi, M Hur, R Girton, H Kim, S Jeon, D Kosman, S Small, C Kwong, B Adryan, I Bell, L Meadows, S Russell, J Manak, R White, M Lamka, A Boulet, S Sakonju, S Lawrence, A Goldstein, E Fyrberg, Y Lei, R Warrior, S Little, G Tkacik, B Kneel, F Wieschaus, T Gregor, Z Liu, T Xie, R Steward, M Luiz, V Vasisht, E Theodosopoulou, A Oberstein, S Small, S Manoukian, M Krause, H Muller, E Wieschaus, S Ostrowski, H Dierick, A Bejsovec, M Pankratz, H Jckle, N Patel, G Poortinga, M Watanabe, M Parkhurst, K Pring, A Voigt, B Schulz, Rodrguez D, D Didiano, C Desplan, G Rubin, M Yandell, J Wortman   +99 more
openalex   +1 more source

Avaliação de linguagem em um caso de associação entre surdez e paquigiria

Audiology: Communication Research
Para que ocorra a aquisição e o desenvolvimento da linguagem é necessária a associação de uma série de fatores, cujo funcionamento harmonioso determina o sucesso desse processo.
Milena Rizzon, Deisi Cristina Gollo Marques Vidor, Carina Rebello Cruz   +2 more
doaj  

Infantile Spasms (West Syndrome): Integrating Genetic, Neurotrophic, and Hormonal Mechanisms Toward Precision Therapy. [PDF]

Medicina (Kaunas)
Abdygalyk B, Rabandiyarov M, Lepessova M, Koshkimbayeva G, Zharkinbekova N, Tekebayeva L, Zhailganov A, Issabekova A, Myrzaliyeva B, Tulendiyeva A, Kurmantay A, Turmanbetova A, Yerkenova S.   +12 more
europepmc   +1 more source

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly [PDF]

, 2011
Fowzan S. Alkuraya, Xuyu Cai, Carina Emery, Ganeshwaran H. Mochida, Mohammed S. Al‐Dosari, Jillian M. Felie, R. Sean Hill, Brenda J. Barry, Jennifer N. Partlow, Generoso G. Gascon, Amal Y. Kentab, Mohammed M. Jan, Ranad Shaheen, Yuanyi Feng, Christopher A. Walsh   +14 more
openalex   +1 more source

A rare association of congenital melanocytic nevus and lissencephaly in childhood seizure

, 2016
Sarita Kalwaniya, Pradeep Choudhary, Harsh Vardhan Khokhar, Devendra Kumar Yadav   +3 more
openalex   +1 more source

Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence [PDF]

, 2015
Satoru Takahashi, Ryosuke Tanaka, Satomi Okano, Akie Okayama, Nao Suzuki, Hiroshi Azuma   +5 more
openalex   +1 more source

Spatial Proteomics Reveals Distinct Protein Patterns in Cortical Migration Disorders Caused by LIN28A Overexpression and WNT Activation. [PDF]

Mol Cell Proteomics
Navolić J, Hawass S, Moritz M, Hahn J, Middelkamp M, Gocke A, Dottermusch M, Schumann Y, Ruck L, Krisp C, Godbole S, Sumislawski P, Köppen N, Gargioni E, Schlüter H, Neumann JE.   +15 more
europepmc   +1 more source

A CLASP1 variant suggests a phenotypic relation with lissencephaly in humans [PDF]

Rawan Alsafeh, Amal Alhashem, A. Y.A. M. Elsayed, Zafer Yüksel, Kalthoum Graies-Tlili, Farah Thabet, Brahim Tabarki   +6 more
openalex   +1 more source