Results 101 to 110 of about 155,140 (314)

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

Measuring newborn foot length to identify small babies in need of extra care: a cross sectional hospital based study with community follow-up in Tanzania. [PDF]

, 2010
BACKGROUND\ud \ud Neonatal mortality because of low birth weight or prematurity remains high in many developing country settings. This research aimed to estimate the sensitivity and specificity, and the positive and negative predictive values of newborn ...
Jaribu Jennie, Marchant Tanya, Tanya Marchant, Jennie Jaribu, Marchant, Tanya, Penfold Suzanne, Joanna Armstrong Schellenberg, Tanner Marcel, Marcel Tanner, Suzanne Penfold, Armstrong Schellenberg, Joanna, Schellenberg Joanna, Penfold, Suzanne, Jaribu, Jennie, Tanner, Marcel   +14 more
core   +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

Multi-Level Evaluation of a Perinatal Health Program in Rural Southeast Georgia

Journal of the Georgia Public Health Association, 2007
Problem: Infant mortality has declined steadily in the past decade, however, significant disparities associate with lack of adequate perinatal health services and barriers to access disproportionately impact women residing in rural areas.
Swati Raychowdhury, Stuart Tedders, Greta O'Steen, Sarah Jones   +3 more
doaj   +1 more source

Economic Crises, Maternal and Infant Mortality, Low Birth Weight and Enrollment Rates: Evidence from Argentina’s Downturns [PDF]

Este estudio investiga el impacto de las recientes crisis en Argentina (incluyendo la grave recesión de 2001-2002) en la salud y la educación. La estrategia de identificación se basa en la covarianza entre los cambios en el PIB regional y los resultados ...
Pablo Glüzman, Luis Felipe López Calva, Guillermo Cruces   +2 more
core  

The EPICure study : growth and blood pressure at 6 years of age following extremely preterm birth [PDF]

, 2007
Background: Preterm children are at risk for reduced growth in early childhood, which may predispose them to later changes in blood pressure. We studied growth and blood pressure (BP) in extremely preterm (EP) children at age 6 years.
Hennessy, Enid M., Bracewell, Melanie A., Wolke, Dieter, Marlow, Neil   +3 more
core   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Medicaid Managed Care and Infant Health: A National Evaluation [PDF]

In this study, we examine the effects of Medicaid managed care (MMC) on prenatal care utilization and infant health. We obtain separate estimates of the effect of primary care case management (PCCM) managed care programs and HMO managed care plans on ...
Lisa Dubay, Genevieve Kenney, Robert Kaestner   +2 more
core  

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

Interpersonal relationships between professionals and mothers of premature from Kangaroo-Unit [PDF]

Revista Brasileira em Promoção da Saúde, 2010
Objective: To understand the interpersonal relationships between professionals and mothers of premature newborns of the Kangaroo Unit. Methods: This was an exploratory study of qualitative approach.
Francisca Eliene de Oliveira Callou, Lêda Maria da Frota Pinheiro, Raphael Colares de Sá, Fabiane Elpídio de Sá   +3 more
doaj