Results 241 to 250 of about 775,921 (319)

A practical imaging marker to determine the posterior zone II location in premature infants. [PDF]

Int J Ophthalmol
Köse B, Kola M, Günay M, Türk A.
europepmc   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Breast milk-associated physiological hypercalcaemia: an observational study of clinical, biochemical and radiological outcomes. [PDF]

BMJ Paediatr Open
Govindarajan S, Zulf Mughal M, Zamir I, Padidela R, Chinoy A.   +4 more
europepmc   +1 more source

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

Infants With Low Birth Weight Have Larger Adipocytes During Early Childhood. [PDF]

Pediatr Obes
Murakawa T, Nakano Y, Ebata A, Hasebe Y, Nagahara K, Mizuno K.   +5 more
europepmc   +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

Implementation of a Prospective Birth Cohort for Newborn Screening and Early Linkage to Comprehensive Sickle Cell Disease Care in a Low-Resource Setting. [PDF]

Int J Neonatal Screen
Ibrahim UA, Musa AB, Aliu-Isah OO, Inuwa HA, Farouk ZL, Bulama K, Mukaddas A, Kamal K, Auta RN, Hussaini N, Galadanci AA, Jobbi YD, Musa BS, Carroll Y, Klein LJ, Idris IM, DeBaun MR, Aliyu MH.   +17 more
europepmc   +1 more source

Child Welfare Involvement and Health Outcomes in Infants With Prenatal Substance Exposure.

JAMA Health Forum
Chen WT, Connell CM, Font SA.
europepmc   +1 more source

Enteral nutrition practices and associated outcomes in preterm infants with a gestational age less than 34 weeks: a single-center retrospective study. [PDF]

Front Nutr
Liu JH, Hu Z, Pan JX, He H, Yi XQ, Zhu XF.   +5 more
europepmc   +1 more source

Sustaining Breastmilk Expression and Direct Feeding at Breast for Very Low Birth Infants: A Qualitative Exploration of Parental Perspectives. [PDF]

Matern Child Nutr
Noonan M, Fitzgibbon V, Keyes R, McCarthy J, Bradshaw C, Tighe SM, Atkinson S, Connell DO, Byrt H, Shanahan M, Desmond J, Lloyd B, Healy S, Philips RK.   +13 more
europepmc   +1 more source