Results 101 to 110 of about 175,906 (292)

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Definition of critical skin defect and concepts of structural and functional repairs: Proposal and verification in a rat model

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the research process regarding skin defect repair using a rat model of skin defect. First, it assesses whether the barrier function of the skin is repaired. If the answer is “YES”, the study proceeds to focus on structural repair.
Cong Sun, Weihong Guo, Fang Liang, Rabia Javed, Weijian Hou, Xingdong Zhang, Qiang Ao   +6 more
wiley   +1 more source

Umbilical Artery Doppler Study as a Predictive Marker of Perinatal Outcome in Preterm Small for Gestational Age Infants [PDF]

, 2009
Young Ji Byun, Haeng-Soo Kim, Jeong In Yang, Joon Hyung Kim, Ho Yeon Kim, Suk‐Joon Chang   +5 more
openalex   +1 more source

Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants [PDF]

, 2021
Aurélie Pham, Marie‐Laure Sobrier, Éloïse Giabicani, Marilyne Le Jules Fernandes, Delphine Mitanchez, Frédéric Brioude, Irène Netchine   +6 more
openalex   +1 more source

Multimorbidity and animal models

Animal Models and Experimental Medicine, EarlyView.
Multimorbidity, defined as the coexistence of ≥2 chronic conditions, is associated with aging, genetics, and environmental factors. Animal models in multimorbidity research span three tiers: simple organisms for initial screening → rodents for mechanistic analysis → large mammals for clinical prediction.
Xinpei Wang, Yakun Ren, Xingjiu Yang, Mengyuan Li, Junxiu Liu, Xiaoyan Du, Wen Wang, Ran Gao   +7 more
wiley   +1 more source

NUTRITION IN SMALL FOR GESTATIONAL AGE INFANTS (SGA): IN VIVO MEASUREMENTS OF BONE MINERALIZATION [PDF]

, 1977
Stephen D. Minton, Jean J. Steichen, Reginald C. Tsang   +2 more
openalex   +1 more source

Late Pregnancy Antiseizure Medication Exposure and Offspring Neurodevelopmental Risk: A Multi‐Child Cohort Study

Annals of Neurology, EarlyView.
Objective Antiseizure medication (ASM) use during pregnancy has increased over the past decade. However, evidence linking prenatal ASM exposure to neurodevelopmental disorders (NDDs) in offspring remains inconsistent. This study evaluated whether prenatal ASM exposure increases the risk of NDDs in children.
Odile Sheehy, Vanina Tchuente, Sherif Eltonsy, Steven Hawken, Padma Kaul, Mark Walker, Michael Pugliese, Roxana Dragan, Anamaria Savu, Lisiane Leal, Lucie Morin, Isabelle Malhamé, Raluca Pana, Anick Bérard   +13 more
wiley   +1 more source

Comparison of cord blood alarin levels of full-term infants according to birth weight

Journal of Perinatal Medicine
To compare the cord blood alarin levels of infants in different birth weight groups with those of infants born to mothers diagnosed with gestational diabetes mellitus (GDM) who were not subgrouped according to birth weight.
Buyukeren Melek, Ozcan Beyza, Can Ummugulsum, Kenar Aytac, Kececi Ramazan, Bayman Melike Geyik, Gunenc Oguzhan   +6 more
doaj   +1 more source

Small for gestational age at term: How small is too small? [PDF]

, 2006
Yvonne W. Cheng, Judith H. Chung, Allison Bryant, Aaron B. Caughey   +3 more
openalex   +1 more source