Results 141 to 150 of about 443,472 (266)

Smchd1 is a maternal effect gene required for genomic imprinting. [PDF]

open access: yesElife, 2020
Wanigasuriya I   +12 more
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco   +6 more
wiley   +1 more source

THAP1 is a maternal effect factor required for the first cell cycle via Rrm1 in early mouse embryos. [PDF]

open access: yesEMBO Rep
Fan Q   +10 more
europepmc   +1 more source

Variants in Maternal Effect Genes and Relaxed Imprinting Control in a Special Placental Mesenchymal Dysplasia Case with Mild Trophoblast Hyperplasia. [PDF]

open access: yesBiomedicines, 2021
Huang TC   +10 more
europepmc   +1 more source

FETAL EFFECTS OF MATERNAL ANALGOSEDATION  [PDF]

open access: yesAnesthesiology, 2002
M. A. Froelich, T. Y. Euliano, D. Caton
openaire   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro   +5 more
wiley   +1 more source

Loss of the maternal effect gene NLRP2 impairs embryonic and extra-embryonic development, revealing a novel genetic cause of congenital anomalies†. [PDF]

open access: yesBiol Reprod
Sharif M   +11 more
europepmc   +1 more source

A transgenic system for targeted ablation of reproductive and maternal-effect genes.

open access: yesDevelopment, 2021
Bertho S   +5 more
europepmc   +1 more source

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