Results 121 to 130 of about 13,805 (257)

An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene

Human Genomics, 2010
A 130 base pair (bp) insertion (g.-8delCins130) into the 5' untranslated region of the PAFAH1B1 (LIS1) gene, seven nucleotides upstream of the translational initiation site, was detected in an isolated case of lissencephaly.
Millar David S, Tysoe Carolyn, Lazarou Lazarus P, Pilz Daniela T, Mohammed Shehla, Anderson Katharine, Chuzhanova Nadia, Cooper David N, Butler Rachel   +8 more
doaj   +1 more source

Antenatal diagnosis of isolated lissencephaly by ultrasound and magnetic resonance imaging [PDF]

, 1998
Pantaleo Greco, M. Resta, Antonella Vimercati, Franca Dicuonzo, Giuseppe Loverro, Mario Vicino, Luigi Selvaggi   +6 more
openalex   +1 more source

Hepatic loss of Lissencephaly 1 (Lis1) induces fatty liver and accelerates liver tumorigenesis in mice

Journal of Biological Chemistry, 2018
The liver is a major organ in lipid metabolism, and its malfunction leads to various diseases. Nonalcoholic fatty liver disease, the most common chronic liver disorder in developed countries, is characterized by the abnormal retention of excess lipid ...
Xiaoling Li, Liansheng Liu, Ran Li, Ailing Wu, Jinqiu Lu, Qingzhe Wu, Junling Jia, Mu-jun Zhao, Hai Song   +8 more
semanticscholar   +1 more source

Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence [PDF]

, 1998
Daniela T. Pilz, Michelle Macha, Kathrin S. Precht, Ann C. M. Smith, William B. Dobyns, David H. Ledbetter   +5 more
openalex   +1 more source

Walker-Warburg syndrome: report of two cases

Arquivos de Neuro-Psiquiatria, 1999
The purpose of this study is to describe two infants that were diagnosed with Walker-Warburg syndrome (WWS), a rare form of congenital muscular dystrophy (CMD).They were studied in their clinical, laboratory, and neuroradiologic features.
VASCONCELOS MARCIO M., GUEDES CÁSSIA R., DOMINGUES ROMEU C., VIANNA RAUL N. G., SOTERO MARCIO, VIEIRA MÔNICA M.   +5 more
doaj  

Midbrain and Hindbrain Involvement in Lissencephaly

Pediatric Neurology Briefs, 2009
Involvement of the midbrain and hindbrain (MHB) in the various groups of lissencephalies was examined in an MRI study of 111 patients (aged 1 day to 32 years; mean 5 years 4 months) studied at University of California San Francisco, and centers in France,
J Gordon Millichap
doaj   +1 more source

Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation. [PDF]

, 1998
Naomichi Matsumoto, Daniela T. Pilz, Judith A. Fantes, Kirk Kittikamron, David H. Ledbetter   +4 more
openalex   +1 more source

Syndromes with lissencephaly. [PDF]

Journal of Medical Genetics, 1996
O. W. J. Quarrell, Daniela T. Pilz
openaire   +3 more sources

A study of EEG, electroretinogram, visual evoked potential, and eye movements in classical lissencephaly [PDF]

, 2000
P R Hodgkins, A Kriss, Stewart Boyd, K Chong, Dorothy Thompson, David S. Taylor, I Russell‐Eggitt, Christopher M. Harris   +7 more
openalex   +1 more source

Hippocampal Abnormalities and Enhanced Excitability in a Murine Model of Human Lissencephaly [PDF]

, 2000
Mark W. Fleck, Shinji Hirotsune, Michael J. Gambello, Emily Phillips‐Tansey, Gregory Suares, Ronald F. Mervis, Anthony Wynshaw‐Boris, Chris J. McBain   +7 more
openalex   +1 more source