Results 71 to 80 of about 55,715 (259)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

The effect of diabetes education on maternal and neonatal outcomes in pregnant women diagnosed with gestational diabetes

BMC Pregnancy and Childbirth
Background Education during pregnancy is important for the development of the pregnant woman’s ability to adapt to change and for a healthy birth.
Serap Topkara, Çağanay Soysal
doaj   +1 more source

Gestational weight gain and its effect on birth outcomes in sub-Saharan Africa: Systematic review and meta-analysis.

PLoS ONE, 2020
IntroductionAn increased metabolic demand during pregnancy is fulfilled by gaining sufficient gestational weight. Women who gain inadequate-weight are at a high-risk of premature birth or having a baby with low-birth weight.
Fekede Asefa, Allison Cummins, Yadeta Dessie, Andrew Hayen, Maralyn Foureur   +4 more
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Counseling about gestational weight gain and healthy lifestyle during pregnancy: Canadian maternity care providers' self-evaluation

International Journal of Women's Health, 2013
Zachary M Ferraro,1 Kaitlin S Boehm,1 Laura M Gaudet,2,3 Kristi B Adamo1,4,5 1Healthy Active Living and Obesity Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada; 2Horizon Health Network, Saint John ...
Ferraro ZM, Boehm KS, Gaudet LM, Adamo KB   +3 more
doaj  

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Physical activity during pregnancy and gestational weight gain depending on pre-pregnancy body mass index: systematic review and meta-analysis

BMC Pregnancy and Childbirth
Background Maternal weight gain during pregnancy is one of the most important outcomes that healthcare professionals have, as excessive weight gain is associated with maternal, foetal, and newborn complications.
Miguel Sánchez-Polán, Rita Santos-Rocha, Dingfeng Zhang, Cristina Silva-José, Evelia Franco, Rubén Barakat   +5 more
doaj   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Optimal Gestational Weight Gain [PDF]

JAMA, 2019
Lisa M, Bodnar, Katherine P, Himes, Jennifer A, Hutcheon   +2 more
openaire   +2 more sources

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source