Results 1 to 10 of about 157,517 (293)

Zebrafish Models of Autosomal Dominant Ataxias [PDF]

Cells, 2021
Hereditary dominant ataxias are a heterogeneous group of neurodegenerative conditions causing cerebellar dysfunction and characterized by progressive motor incoordination.
Ana Quelle-Regaldie, Daniel Sobrido-Cameán, Antón Barreiro-Iglesias, María Jesús Sobrido, Laura Sánchez   +4 more
doaj   +5 more sources

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy [PDF]

Scientific Reports
This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene.
Cansu de Muijnck, Lonneke Haer-Wigman, Judith A. M. van Everdingen, Tanya Lushchyk, Pam A. T. Heutinck, Marieke F. van Dooren, Anneke J. A. Kievit, Virginie J. M. Verhoeven, Marleen E. H. Simon, Rosemarie A. Wasmann, Irene C. Notting, Elfride De Baere, Sophie Walraedt, Julie De Zaeytijd, Filip Van den Broeck, Bart P. Leroy, Camiel J. F. Boon, Maria M. van Genderen   +17 more
doaj   +2 more sources

A Rare Case of Ectrodactyly Ectodermal Dysplasia and Cleft Lip Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2022
A 23-year-old female patient visited the Oral Medicine and Radiology Department with the complaint of irregularly placed upper and lower front teeth since childhood.
Kshma Rao, Roopashri R Kashyap, Raghavendra Kini, Prasanna Kumar Rao, Gowri P Bhandarkar, Devika Shetty   +5 more
doaj   +1 more source

Robinow Syndrome: A Rare Diagnosis [PDF]

Journal of Clinical and Diagnostic Research, 2015
Robinow syndrome is a rare entity characterized by short stature and abnormalities of the head, face and external genitalia. It is otherwise called ‘fetal face syndrome’ due to its resemblance with fetal face.
Shubhankar Mishra, Sunil Kumar Agarwalla, Swayanprava Pradhan   +2 more
doaj   +1 more source

Steatocystoma Multiplex-A Rare Genetic Disorder: A Case Report and Review of the Literature [PDF]

Journal of Clinical and Diagnostic Research, 2013
A 17 years old female presented with multiple asymptomatic cutaneous cysts all over body, sparing the head and neck region. The microscopic examination of the cysts showed the features of steatocystoma multiplex.
Hemlata T. Kamra, Pradeep A. Gadgil, Ajay G. Ovhal, Rahul R. Narkhede   +3 more
doaj   +1 more source

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

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 Partial Epilepsies

Pediatric Neurology Briefs, 2000
The clinical, electrophysiologic, and genetic characteristics of autosomal dominant partial epilepsy were studied in 71 patients and 33 non-epileptic at-risk family members in 19 European families followed at the Hopital Universitaire de Geneve ...
J Gordon Millichap
doaj   +1 more source

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

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