Results 221 to 230 of about 13,874,644 (302)

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Maternal red blood cell folate and vitamin B metabolism with pregnancy outcomes: a retrospective study. [PDF]

BMC Pregnancy Childbirth
Peng L, Gao Y, Yuan C, Kuang H.
europepmc   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Adherent-invasive <i>Escherichia coli pduB</i> drives vitamin B₁₂-dependent colitis in mice. [PDF]

mBio
Khan S, Kim J, Lafrance A, Field S, Li X, Kinch LN, Forsberg KJ, Harris-Tryon TA, Cong Q, Orth K, Reinecker H-C, Ni J.   +11 more
europepmc   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio, Vishani Nimish Patel, McKenna Walsh, Erick Messias, Ping‐I Lin   +4 more
wiley   +1 more source

Cobalt‐Catalyzed C─N Bond Formation via Metal‐Hydride Hydrogen Atom Transfer (MHAT)

Angewandte Chemie, EarlyView.
Cobalt‐catalyzed metal‐hydride hydrogen atom transfer (Co‐MHAT) converts simple alkenes into C─N bonds under mild, near‐neutral conditions. A shared Co─H‐initiated radical/organocobalt intermediate is channeled into radical trapping, radical‐polar crossover, or radical ligand transfer, unifying hydroamination, hydroazidation, hydroamidation, and remote
Arman Khosravi, Ming‐Yu Ngai
wiley   +2 more sources

Vitamin B-6 Deficiency Induces Anxiety-Like Behavior in Sprague-Dawley Rats by Disrupting Gut Homeostasis. [PDF]

J Nutr
Amarasena S, Hossain KS, Rasouli A, Bertolo RF, Yuan Q, Mayengbam S.   +5 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Electro‐Organic Synthesis at a Stable Oil/Water/Solid Three‐Phase Interface Reactor

Angewandte Chemie, EarlyView.
A porous membrane electrode (PME) reactor is developed to promote oil/water/solid three‐phase interfacial contact for electro‐organic synthesis. By promoting the formation of an oil/water interfacial region within or near an amphiphilic catalytic layer, the reactor enables efficient conversion of water‐insoluble organic reactants in aqueous ...
Deyin Chen, Jianan Zhu, Huan Wu, Huajun Zheng, Longhao Jiao, Chengpu Chu, Yinghua Xu, Bin Liu   +7 more
wiley   +2 more sources