Results 201 to 210 of about 8,860,936 (359)

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

New Perspectives in Nutritional Management for Neonatal Health. [PDF]

Nutrients
Salvatore S, Baldassarre M, Giannì ML, Agosti M.   +3 more
europepmc   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Measuring later health status of high risk infants: randomised comparison of two simple methods of data collection

, 2001
Objective: To test two methods of providing low cost information on the later health status of survivors of neonatal intensive care.Design: Cluster randomised comparison.Setting: Nine hospitals distributed across two UK health regions.
Field, David, Manktelow, Bradley, Gompels, MJ, Green, Colin, Blair, Mitch, Manktelow, B, Blair, M, Johnson, Ann, Field, D, Shortland, David, Lamming, CR, Law, C, Law, Catherine, Draper, Elizabeth S., Draper, ES, Shortland, D, Green, C, Gompels, Melanie J., Johnson, A, Lamming, Caroline R.   +19 more
core  

Gestational Diabetes in Somali Women: Neglected Risks for Maternal and Neonatal Health. [PDF]

Int J Womens Health
Mudei NM, Adawe MMM, Ali HA, Mohamud KH.
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Virulence potential of enterobacteriaceae isolated from neonatal enternal feeding tubes

, 2013
In recent years, there has been a rise in the incidence of neonatal infections due to Enterobacteriaceae including Escherichia coli, Enterobacter, Klebsiella and Serratia spp.
Alkeskas, AA
core  

Does the Reproductive Technique Affect Neonatal Health Parameters in Foals? [PDF]

Reprod Domest Anim
Alonso MA, Dos Santos GR, Fonte JS, Marques PC, Pereira DD, Toral FLB, Bordignon V, Junior JB, Squires E, Fernandes CB.   +9 more
europepmc   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Beyond the 'Pregnancy Black Box': a global roadmap for artificial intelligence-driven pharmacogenomics in maternal-neonatal health. [PDF]

Pharmacogenomics J
Ismail MA.
europepmc   +1 more source