Results 61 to 70 of about 930 (131)

Data_Sheet_1_Genome-Wide Meta-Analysis Identifies Two Novel Risk Loci for Epilepsy.docx

, 2021
Epilepsy (affects about 70 million people worldwide) is one of the most prevalent brain disorders and imposes a huge economic burden on society. Epilepsy has a strong genetic component.
Luxian Lv (548491), Meng Song (469216), Yongfeng Yang (746576), Jiewei Liu (488795), Xiong-Jian Luo (11263589), Wenqiang Li (483433)   +5 more
core   +1 more source

Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene

Prague Medical Report, 2019
Asphyxiating thoracic dysplasia (ATD) represents a heterogeneous group of skeletal dysplasias with short ribs, narrow chest and reduced thoracic capacity.
Anna Čechová, Alice Baxová, Jiří Zeman, Lukáš Lambert, Tomáš Honzík, Alena Leiská, Václav Čunát, Markéta Tesařová   +7 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Deletion of Ttc21b with EIIa-Cre phenocopies homozygous Ttc21b^aln/aln embryos.

, 2017
Genetic ablation of Ttc21b with the EIIa-Cre creates microcephalic brains (D,G) which are similar to that seen in homozygous null embryos (L,M). The ROSAdTom/EGFP reporter allele shows the mosaic nature of some EIIa-Cre embryos where EGFP expression (B,E,
John Snedeker (3836410), Ching-Fang Chang (3325185), Rolf W. Stottmann (207347), Pamela V. Tran (3836404), Jamie N. Struve (3836407), Elizabeth N. Schock (3836401), Megan Cionni (679295), Samantha A. Brugmann (170988)   +7 more
core   +1 more source

Population Genomic Analysis in Wild Medaka Populations: Identifying Candidate Loci for Balancing Selection

Ecology and Evolution, Volume 16, Issue 10, October 2026.
We explored genomic signatures of balancing selection and selective sweep in the northern medaka, Oryzias sakaizumii in Japan by performing whole‐genome resequencing of wild individuals. In addition, we reevaluated the population genetic structure and admixture of Oryzias latipes and O.
Shingo Fujimoto, Taijun Myosho, Hirozumi Kobayashi, Hiroaki Aoyama, Iki Murase, Bayu K. A. Sumarto, Mitsuharu Yagi, Taiga Kunishima, Masatoshi Matsunami, Ryosuke Kimura   +9 more
wiley   +1 more source

Additional file 4 of Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes

, 2022
Additional file 4: Table S2. Probes sequences targeting NUP188 and PDXDC1 in MLPA.
Chen, Weicheng, Wang, Feifei, Zeng, Weijia, Zhang, Xinyan, Shen, Libing, Zhang, Yuan, Zhou, Xiangyu   +6 more
openaire   +1 more source

Синдром Жёна: описание серии наблюдений

, 2016
Jeune syndrome (synonym: asphyxiating thoracic dystrophy) is a rare genetically heterogeneous autosomal recessive disease, characterized by the development of generalized osteochondrodysplasia, anomalies of skeletal system with multi-organ involvement ...
Stepanova E.V., Degtyareva E.A., Ovsyannikov D.Y., Belyashova M.A.   +3 more
core   +4 more sources

Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies

Journal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.
This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Qiaowei Zhang, Shuwen Xue, Zhi Gao, Panlai Shi, Li Wang, Qi Feng, Xiangdong Kong, Xiaofan Zhu   +7 more
wiley   +1 more source

Setmelanotide in Bardet‐Biedl Syndrome: A 52‐Week Comparison of Phase 3 Trial Participants With a Matched Registry Cohort

Obesity, Volume 34, Issue 3, Page 579-587, March 2026.
ABSTRACT Objective This analysis aimed to assess the efficacy of setmelanotide over 52 weeks in patients with Bardet‐Biedl syndrome (BBS) compared with an external natural history cohort from the international Clinical Registry Investigating BBS (CRIBBS).
Jesús Argente, Andrea M. Haqq, Jan Luca Schorfheide, Nicolas Touchot, Caroline Huber, Urs Wiedemann, Jeremy Pomeroy, on behalf of the Phase 3 BBS Trial Investigators, Wendy Chung, Karine Clément, Hélène Dollfus, Elizabeth Forsythe, Robert M. Haws, Gabriel Á. Martos‐Moreno, Christine Poitou, Jack A. Yanovski   +15 more
wiley   +1 more source

MyGene2 automated match report: TTC21B

, 2017
MyGene2.org is free, public, searchable & browsable website. Families with rare genetic conditions, clinicians, and researchers families who are interested in sharing health and genetic information can create MyGene2 profiles and use these to connect with other families, clinicians, and researchers who may have or be studying the same condition. If
openaire   +1 more source