Results 181 to 190 of about 54,833 (248)

Novel single nucleotide polymorphisms (SNPs) at positions 497 (T/G) and 829 (T/C) in the human c-FOS gene and haplotype association Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #156 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/mpr156.pdf Acknowledgments: We would like thank Dr. J. Ohashi for his helpful discussion. This work was supported by Grants-in-Aid from the Ministry of Education, Science, Sports and Culture of Japan.

, 2000
Yumiko Umino, Hirohiko Hohjoh, Katsushi Tokunaga   +2 more
openalex   +1 more source

A real-time PCR genotyping assay to detect FAD2A SNPs in peanuts (Arachis hypogaea L.) [PDF]

, 2001
Noelle A. Barkley, Ming Li Wang, Roy N. Pittman   +2 more
openalex   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

Catalog of 434 single-nucleotide polymorphisms (SNPs) in genes of the alcohol dehydrogenase, glutathione S-transferase, and nicotinamide adenine dinucleotide, reduced (NADH) ubiquinone oxidoreductase families [PDF]

, 2001
Aritoshi Iida, S. Saito, Akihiro Sekine, Takuya Kitamoto, Tetsuhisa Kitamura, C. Mishima, Satoshi Osawa, Kazuhiro Kondo, S. Harigae, Yusuke Nakamura   +9 more
openalex   +1 more source

Identification of a Second‐Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline variants in DEPDC5 are a cause of familial focal epilepsy with variable foci. Affected individuals may have focal cortical dysplasia if a second brain somatic variant occurs. As access to brain tissue is limited, the second somatic hit in the brain is usually presumed if a clear pathogenic germline variant is present. Here, we present
Ala'a Alsayed, Zainab Hakim, Daria Merrikh, Maryam Khanbabaei, Navprabhjot Kaur, Walter Hader, Tyler Soule, Setareh Ashtiani, Grace Polanco‐Tovar, Morris Scantlebury, Hamed Rahi, Yang Cao, Jennifer A. Chan, Juan P. Appendino, Gerald Pfeffer, Ping Yee Billie Au, Karl Martin Klein   +16 more
wiley   +1 more source

Novel SNP at the common primer site of exon IIIa ofFGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome [PDF]

, 2001
Lee‐Jun C. Wong, Tian-Jian Chen, Pu Dai, Lynne M. Bird, Maximilian Muenke   +4 more
openalex   +1 more source

A Transcriptome‐Wide Mendelian Randomization Study in Isolated Human Immune Cells Highlights Risk Genes Involved in Viral Infections and Potential Drug Repurposing Opportunities for Schizophrenia

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia is a neurodevelopmental psychiatric disorder characterized by symptoms of psychosis, thought disorder, and flattened affect. Immune mechanisms are associated with schizophrenia, though the precise nature of this relationship (causal, correlated, consequential) and the mechanisms involved are not fully understood.
David Stacey, Liam Gaziano, Preethi Eldi, Catherine Toben, Beben Benyamin, S. Hong Lee, Elina Hyppönen   +6 more
wiley   +1 more source

High-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the entire human DiGeorge syndrome critical region 2 (DGCR2) gene at 22q11.2 [PDF]

, 2001
Aritoshi Iida, Yu‐ichiro Ohnishi, Kouichi Ozaki, Y. Ariji, Yoshimasa Nakamura, Toshihiro Tanaka   +5 more
openalex   +1 more source

Do Influential Articles on the Genetics of Autism Show Evidence of Engagement With the Autistic Community?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Investigations into the etiology and genetic basis of autism continue to drive much autism research, yet reports are emerging of this research not aligning with priorities of autistic people. Engagement of autistic people in the research process is a key way to take their perspectives on board.
Heidi Kristiina Kaljusto, Emma Wilson, Sue Fletcher‐Watson   +2 more
wiley   +1 more source

Single nucleotide polymorphisms (SNPs) assay using reversible association and dispersion of DNA-linked colloidal nanoparticles [PDF]

, 2001
Zhipeng Tang, Takahiro Mori, Tohru Takarada, Minoru Maëda   +3 more
openalex   +1 more source