Results 21 to 30 of about 1,639,589 (408)

SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa

Frontiers in Medicine, 2021
The small nuclear ribonucleoprotein 200 kDa (SNRNP200) gene plays a key role in the maturation of pre-message RNA (pre-mRNA) splicing with the indication for the etiology of retinitis pigmentosa (RP).
Tao Zhang, Tao Zhang, Jingshan Bai, Jingshan Bai, Xinyi Zhang, Xinyi Zhang, Xiaowei Zheng, Xiaowei Zheng, Nan Lu, Zhongyin Liang, Ling Lin, Ling Lin, Yongsong Chen, Yongsong Chen   +13 more
doaj   +1 more source

Autosomal dominant polycystic disease # [PDF]

Hepatology, 2009
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Pedrolli, Carlo, Cereda, Emanuele
openaire   +4 more sources

Autosomal Dominant Alternating Hemiplegia

Pediatric Neurology Briefs, 1993
The familial occurrence and autosomal dominant inheritance of alternating hemiplegia of childhood is reported from Children’s Hospital, and Massachusetts General Hospital, Harvard Medical School, Boston.
J Gordon Millichap
doaj   +1 more source

Further genetic heterogeneity for autosomal dominant human sutural cataracts [PDF]

, 2003
A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent ...
Billingsley, G., Graw, Jochen, Heon, E., Illig, T., Klopp, N., Rudolph, G., Wjst, M.   +6 more
core   +1 more source

Autosomal Dominant Juvenile Amyotrophic LS

Pediatric Neurology Briefs, 1999
The clinical and electrodiagnostic findings in 49 affected family members and neuropathological findings from two autopsies of a Maryland kindred with autosomal dominant juvenile amyotrophic lateral sclerosis (ALS) are reported from Johns Hopkins ...
J Gordon Millichap
doaj   +1 more source

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

Annals of Clinical and Translational Neurology, 2023
SLC1A4 is a trimeric neutral amino acid transporter essential for shuttling L‐serine from astrocytes into neurons. Individuals with biallelic variants in SLC1A4 are known to have spastic tetraplegia, thin corpus callosum, and progressive microcephaly ...
Jonai Pujol‐Giménez, Ghayda Mirzaa, Elizabeth E. Blue, Giuseppe Albano, Danny E. Miller, Aimee Allworth, James T. Bennett, Peter H. Byers, Sirisak Chanprasert, Jingheng Chen, Daniel Doherty, Andrew B. Folta, Madelyn A. Gillentine, Ian Glass, Anne Hing, Martha Horike‐Pyne, Kathleen A. Leppig, Azma Parhin, Jane Ranchalis, Wendy H. Raskind, Elisabeth A. Rosenthal, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, Virginia P. Sybert, Andrew Timms, Mark Wener, University of Washington Center for Mendelian Genomics (UW‐CMG)a, Undiagnosed Diseases Network (UDN), Michael J. Bamshad, Fuki M. Hisama, Gail P. Jarvik, Katrina M. Dipple, Matthias A. Hediger, Andrew B. Stergachis   +33 more
doaj   +1 more source

Autosomal dominant prognathism

Definitions, 2020
Autosomal dominant prognathism is a rare, genetic, developmental defect during embryogenesis disorder characterized by abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the

semanticscholar   +1 more source

Autosomal dominant simple microphthalmos. [PDF]

Journal of Medical Genetics, 1994
Congenital bilateral microphthalmos is a rare malformation of the eye, which ranges from extreme to mild reduction of total axial length. Microphthalmos may occur as an isolated ocular abnormality or as part of a systemic disorder, and different classifications of the condition have been attempted.
Vingolo, E M, Steindl, Katharina, Forte, R, Zompatori, L, Iannaccone, A, Sciarra, A, Del Porto, G, Pannarale, M R   +7 more
openaire   +3 more sources

SPG10 is a rare cause of spastic paraplegia in European families [PDF]

, 2008
Background: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport.
Auer-Grumbach, M., Boesch, S., Kassubek, J., Klimpe, S., Klopstock, Thomas, Kostic, V., Kremer, B.P.H., Otto, S., Schöls, L., Schüle, R., van de Warrenburg, B.P.   +10 more
core   +2 more sources

Autosomal dominant polycystic kidney disease [PDF]

, 2015
Polycystic kidney disease (PKD) is the commonest life-threatening genetic disease, affecting 12.5 million people worldwide. It is found in all races and occurs equally in men and women.
Attard, Stephanie
core   +1 more source