Results 161 to 170 of about 440,897 (265)

The “first” maternal effect gene [PDF]

Molecular Reproduction and Development, 2012
openaire   +2 more sources

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Influences of plant maternal effects, chemotype, and environment on the leaf bacterial community. [PDF]

Plant Biol (Stuttg)
Malacrinò A, Jakobs R, Xu S, Müller C.
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Maternal occupational exposure to noise: prevalence, maternal effects and infant outcomes in the National Birth Defects Prevention Study, 1997-2011. [PDF]

Occup Environ Med
Van Buren KW, Rocheleau CM, Chen IC, Sanderson WT, MacDonald LA, Masterson EA, Nestoridi E, Ailes EC, National Birth Defects Prevention Study.   +8 more
europepmc   +1 more source

Predator-induced maternal effects determine adaptive antipredator behaviors via egg composition. [PDF]

Proc Natl Acad Sci U S A, 2021
Sharda S, Zuest T, Erb M, Taborsky B.
europepmc   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Host size overrides maternal effects on the development of a secondary hyperparasitoid wasp. [PDF]

J Insect Sci
Shi X, Gols R, de Boer JG, Harvey JA.
europepmc   +1 more source

A simulation study of a honeybee breeding scheme accounting for polyandry, direct and maternal effects on colony performance. [PDF]

Genet Sel Evol, 2021
Kistler T, Basso B, Phocas F.
europepmc   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source