Results 241 to 250 of about 482,093 (336)

Neurodevelopment Genes Encoding Olduvai Domains Link Myalgic Encephalomyelitis to Neuropsychiatric Disorders. [PDF]

Diagnostics (Basel)
Arcos-Burgos M, Arcos-Holzinger M, Mastronardi C, Isaza-Ruget MA, Vélez JI, Lewis DP, Patel H, Lidbury BA.   +7 more
europepmc   +1 more source

The Euglena gracilis rbcS gene contains introns with unusual borders [PDF]

, 1992
Luc‐Henri Tessier, Raquel L. Chan, Mario Keller, Jacques‐Henry Weil, Patrice Imbault   +4 more
openalex   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Identification and structural characterization of pseudogenes in Fusarium graminearum. [PDF]

Sci Rep
Rau D, Posadinu CM, Murgia ML, Fois D, Porceddu A.   +4 more
europepmc   +1 more source

Identification of a cis-acting sequence required for germ line-specific splicing of the P element ORF2-ORF3 intron. [PDF]

, 1991
A C Chain, Susan Zollman, Janet C. Tseng, Frank A. Laski   +3 more
openalex   +1 more source

Divergence of duplicate genes in exon–intron structure

Proceedings of the National Academy of Sciences of the United States of America, 2012
Guixia Xu, Chunce Guo, Hongyan Shan, H. Kong   +3 more
semanticscholar   +1 more source

Novel Intragenic Duplication of GATAD2B in a Patient With GAND

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori, Steven Estes, Swetha Ramadesikan, Betsy Schmalz, Shayne Plourde, Maria E. Hernandez Gonzalez, Anthony R. Miller, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +9 more
wiley   +1 more source

Lung Adenocarcinoma Expressing an EML4-ALK Fusion Transcript With Premature Stop Codons and Response to Alectinib: A Case Report. [PDF]

Thorac Cancer
Ozaki M, Ikushima H, Suzuki M, Yokoyama A, Fukuda K, Watanabe K, Shinozaki-Ushiku A, Kato M, Ushiku T, Aburatani H, Oda K, Kage H.   +11 more
europepmc   +1 more source

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source