Results 81 to 90 of about 262,182 (357)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Breastfeeding mobile application for mothers with gestational diabetes mellitus: designed by mothers and experts

BMC Public Health, 2022
Background Mothers and babies with gestational diabetes have an increased risk of diabetes, obesity, and cardiovascular complications. Breastfeeding is known to help reduce complications in mothers and babies with gestational diabetes.
Seungmi Park, Eunju Kwak, Jisan Lee
doaj   +1 more source

Associations of early pregnancy serum uric acid levels with risk of gestational diabetes and birth outcomes: a retrospective cohort study [PDF]

, 2023
Tingting Pang, Zixing Zhou, Pengsheng Li, Huiting Ma, Xiu-Yin Shen, Yingchun Wan, Xiaoling Guo, Zheng­ping Liu, Gengdong Chen   +8 more
openalex   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Cohort profile: the avon longitudinal study of parents and children: ALSPAC mothers cohort [PDF]

, 2013
The Avon Longitudinal Study of Children and Parents (ALSPAC) was established to understand how genetic and environmental characteristics influence health and development in parents and children.
A. Boyd, A. Fraser, A. Ness, Alati, C. Macdonald-Wallis, Chen, Chittleborough, Cookson, D. A. Lawlor, Davey Smith, Deave, Dudding, Evans, FARROW, Fergusson, G. Davey Smith, Golding, Golding, Golombok, Hibbeln, J. Golding, J. Henderson, J. Macleod, Jeffreys, K. Tilling, L. Molloy, Lawlor, Lawlor, Leary, Lewis, Liu, Loos, Macdonald-Wallis, Macdonald-Wallis, Macdonald-Wallis, Macleod, Micali, Northstone, O'Connor, O'CONNOR, O'Connor, O'Connor, Perry, Rogers, S. M. Nelson, S. Ring, Shugart, Smith, Weedon, Willer, Zammit   +50 more
core   +2 more sources

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

Gestational Diabetes as a Predictor of Sexual Dysfunction in Pregnant Women

Journal of Holistic Nursing and Midwifery, 2021
Introduction: Pregnancy is associated with changes in sexual function and perhaps many more sexual problems when accompanied by particular disorders such as gestational diabetes.
Ommolbanin Zare, Masoumeh Simbar, Giti Ozgoli, Adeleh Bahar, Hamid Alavi Majd   +4 more
doaj  

Differences between European birthweight standards: impact on classification of ‘small for gestational age’ [PDF]

, 2006
We describe a quantitative and comparative review of a selection of European birthweight standards for gestational age for singletons, to enable appropriate choices to be made for clinical and research use.
Glinianaia, S. V., Hemming, Karla, Hutton, Jane, Jarvis, S. N., Platt, M. J.   +4 more
core   +1 more source

Adropin modulates pancreatic cell proliferation and glutathione levels in an animal model of type 1 diabetes mellitus

Animal Models and Experimental Medicine, EarlyView.
Adropin is related to the energy homeostasis‐associated gene. It significantly increased glutathione reductase enzyme levels in the pancreas of experimental diabetic rats. Adropin may reduce the severity of diabetes and its complications. Cell proliferation in the exocrine is reduced after the administration of adropin.
Ifrah I. Ali, Crystal D'Souza, Abderrahim Nemmar, Shreesh Ojha, Ernest A. Adeghate   +4 more
wiley   +1 more source

Impact of gestational weight gain on obstetric and neonatal outcomes in obese diabetic women [PDF]

, 2015
Both obesity and gestational diabetes mellitus are increasing in prevalence, being a major health problem in pregnancy with independent and additive impact on obstetrics outcomes. It is recognized that inadequate gestational weight gain is an independent
AM Egan, AM Siega-Riz, B Caballero, BE Metzger, CA Carreno, CE Pedreira, Committee on Practice Bulletins--Obstetrics, D Simmons, DW Kiel, E Horosz, H Shaikh, Institute of, M, Inês Gante, JE Park, JM Walsh, Jorge Dores, M Blomberg, MA Kominiarek, Maria C. Almeida, MC Almeida, MC Dennedy, MC Jolly, MW Carpenter, NH Morken, Njila Amaral, S Thangaratinam, SA Lederman, SY Kim, Y Liu, Y Yogev   +29 more
core   +1 more source