Results 131 to 140 of about 2,548,288 (258)

Multiple Gestation as a Risk Factor for SARS-CoV-2-Associated Adverse Maternal Outcome: Data From the COVID-19 Related Obstetric and Neonatal Outcome Study (CRONOS). [PDF]

Geburtshilfe Frauenheilkd, 2023
Sourouni M, Germeyer A, Feißt M, Balzer A, Köster H, Minte A, Brüggmann D, Kohll C, Reinhardt K, Möginger M, Leonhardt A, Banz-Jansen C, Bohlmann M, Fröhlich C, Backes C, Hager D, Kaup L, Hollatz-Galuschki E, Engelbrecht C, Markfeld-Erol F, Hagenbeck C, Schäffler H, Winkler J, Stubert J, Rathberger K, Lüber L, Hertlein L, Machill A, Richter M, Berghäuser M, Weigel M, Morgen M, Horn N, Jakubowski P, Riebe B, Ramsauer B, Sczesny R, Schäfer-Graf UM, Schrey S, Kehl S, Lastinger J, Seeger S, Parchmann O, Iannaccone A, Rohne J, Gattung L, Morfeld CA, Abou-Dakn M, Schmidt M, Glöckner M, Jebens A, Sondern KM, Pecks U, Schmitz R, Möllers M.   +54 more
europepmc   +1 more source

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +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

Fetal and maternal outcome in patients with active lupus nephritis: comparison between new-onset and pre-existing lupus nephritis. [PDF]

BMC Nephrol, 2021
Lian XJ, Fan L, Xia X, Huang XM, Ye HJ, Yu XQ, Chen HT, Chen W.   +7 more
europepmc   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Correction: Multiple Gestation as a Risk Factor for SARS-CoV-2-Associated Adverse Maternal Outcome: Data From the COVID-19 Related Obstetric and Neonatal Outcome Study (CRONOS). [PDF]

Geburtshilfe Frauenheilkd, 2023
Sourouni M, Germeyer A, Feißt M, Balzer A, Köster H, Minte A, Brüggmann D, Kohll C, Reinhardt K, Möginger M, Leonhardt A, Banz-Jansen C, Bohlmann M, Fröhlich C, Backes C, Hager D, Kaup L, Hollatz-Galuschki E, Engelbrecht C, Markfeld-Erol F, Hagenbeck C, Schäffler H, Winkler J, Stubert J, Rathberger K, Lüber L, Hertlein L, Machill A, Richter M, Berghäuser M, Weigel M, Morgen M, Horn N, Jakubowski P, Riebe B, Ramsauer B, Sczesny R, Schäfer-Graf UM, Schrey S, Kehl S, Lastinger J, Seeger S, Parchmann O, Iannaccone A, Rohne J, Gattung L, Morfeld CA, Abou-Dakn M, Schmidt M, Glöckner M, Jebens A, Sondern KM, Pecks U, Schmitz R, Möllers M.   +54 more
europepmc   +1 more source

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

Comparison of Feto-Maternal Outcome in Low-Lying Placenta and Placenta Previa in Scarred Versus Unscarred Uterus: A Prospective Observational Study. [PDF]

Cureus
Kanti V, Sagar S, Divedi P, Nath B, Mittal N, Meena S.   +5 more
europepmc   +1 more source

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

Improved maternal outcome in placenta accreta spectrum disorders: a single-institute observational cohort study. [PDF]

BMC Pregnancy Childbirth
Zhou H, Wang W, Gu N, Li Q, Qiu L, Zhu Z, Wang Z, Dai Y.   +7 more
europepmc   +1 more source