Results 211 to 220 of about 2,787,926 (407)

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Maternal Milk Allopregnanolone May Buffer Negative Associations Between Maternal Postpartum Psychological Distress and Infant Regulatory Capacity. [PDF]

Dev Psychobiol
Werchan DM, Susskind B, Carpio R, Howell BR, Brito NH, Thomason ME.   +5 more
europepmc   +1 more source

Maternal and neonatal outcomes associated with COVID-19 infection: A systematic review

, 2020
Vinayak Smith, Densearn Seo, Ritesh Rikain Warty, Olivia Payne, Mohamed Salih, Ken Lee Chin, Richard Ofori‐Asenso, Sathya Krishnan, Fabrício da Silva Costa, Beverley Vollenhoven, Euan M. Wallace   +10 more
openalex   +2 more sources

Meta-analysis of genome-wide association studies of gestational duration and spontaneous preterm birth identifies new maternal risk loci

, 2023
Anu Pasanen, Minna K. Karjalainen, Ge Zhang, Heli Tiensuu, Antti M. Haapalainen, Marja Ojaniemi, Bjarke Feenstra, Bo Jacobsson, Aarno Palotie, Hannele Laivuori, Louis J. Muglia, Mika Rämet, Mikko Hallman, Mikko Hallman   +13 more
openalex   +2 more sources

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Exposure to Suaahara II Interventions and Knowledge of Maternal and Child Nutrition and Health Among Mothers, Grandmothers, and Male Household Heads: An Association Study in Nepal. [PDF]

Matern Child Nutr
Suresh S, Frongillo EA, Thapa DK, Adhikari RP, Kole SK, Sapkota F, Shrestha ML, Garn K, Pandey PR, Kshetri I, Sharma D, Cunningham K.   +11 more
europepmc   +1 more source

Текстові методики дослідження мотиваційно-смислової сфери жінки в процесі реалізації материнської поведінки(Textual techniques of studing the motivational and semantic sphere of a woman in the implementation of maternal behavior) [PDF]

, 2019
Проніна, В. (V. Pronina)
openalex  

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

First-Trimester Serum n-3/n-6 Fatty Acids Predict Large-for-Gestational-Age Risk: A Nested Case-Control Study. [PDF]

Matern Child Nutr
Cai X, Zhu H, Liang N, Zhu Y, Dang Q, Gao M, Yu H.   +6 more
europepmc   +1 more source

Effects of Maternal Fiber Intake on Intestinal Morphology, Bacterial Profile and Proteome of Newborns Using Pig as Model [PDF]

, 2020
Ying He, Peng Xie, Yang Liu, Qing Wu, Qiang Zhou, Liang Hu, Zhengfeng Fang, Yan Lin, Shengyu Xu, Bin Feng, Jian Li, Yong Zhuo, De Wu, Lianqiang Che   +13 more
openalex   +1 more source