Results 281 to 290 of about 880,277 (345)

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

Prevalence of Genetic Variants Associated with Atrial Fibrillation Risk in the Asymptomatic Young Adult Population. [PDF]

Medicina (Kaunas)
Murugan M, Ravikumar S, Ganesh I, Vetriselvan Y, Priyadharshini A, Ballambattu VB.   +5 more
europepmc   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Protocol for genetic load analysis in caribou using a modified genomic evolutionary rate profiling. [PDF]

STAR Protoc
Taylor RS, Manseau M, Liu P, Wilson PJ.
europepmc   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Genotyping by Amplicon Sequencing (GBAS) With Newly Developed SSR and EPIC Markers Reveals Structure in Populations of the Green Toad (<i>Bufotes viridis</i>) Across Rural and Urban Environments. [PDF]

Ecol Evol
Kendlbacher V, Krenn YP, Vijayan T, Rupprecht C, Spießberger M, Curto M, Landler L, Meimberg H.   +7 more
europepmc   +1 more source

Extensive Analysis of Genetic Diversity in HLA-DMA, HLA-DMB, HLA-DOA and HLA-DOB: Characterisation of 236 Novel Alleles. [PDF]

HLA
Albrecht V, Pahlke M, Sauter J, Paech C, Putke K, Schmidt AH, Lange V, Klussmeier A.   +7 more
europepmc   +1 more source

New alleles of ArabidopsisBIK1reinforce its predominant role in pattern-triggered immunity and caution interpretations of other reported functions

Song B, Choi S, Kong L, Kim S, Fliegmann J, Li X, DeFalco TA, Hu M, Li M, Zhao Y, Wang H, Shan L, Nurnberger T, He P, Zipfel C, Zhou J.   +15 more
europepmc   +1 more source

Characterization of the 172 SNPs Included in the ForenSeq™ DNA Signature Prep Kit in a Population from Northeast Italy. [PDF]

Int J Mol Sci
Saccardo C, De Leo D, Turrina S.
europepmc   +1 more source