Results 341 to 350 of about 799,457 (416)

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott, Olivia K. Wenger, Matthew Adams, Emma L. Baple, Andew Crosby, Joseph Leslie   +5 more
wiley   +1 more source

Umbilical cord blood level of interleukins used as a predictor of early-onset neonatal sepsis: a comprehensive review. [PDF]

Front Cell Infect Microbiol
Răcean MA, Săsăran MO, Mărginean CO, Cucerea M.   +3 more
europepmc   +1 more source

Selective Nontreatment of Defective Newborns: An Ethical Analysis [PDF]

, 1980
Johnson, Paul R.
core   +1 more source

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

Prevalence of Congenital Hypothyroidism and Efficacy of Current Cord Sample Screening in the Presence of Metabolic Screening: A Retrospective Cohort Study. [PDF]

Cureus
Alwadani IM, Almohammadi AM, Alzamzami WN.   +2 more
europepmc   +1 more source

Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The purpose of this study is to analyze the prevalence of obesity in those affected by DDX3X‐related neurodevelopmental disorder (DDX3X‐NDD). Initial descriptions suggested that individuals with DDX3X‐NDD suffered from poor weight gain or failure to thrive in early childhood, likely in the setting of feeding difficulties and secondary to ...
Giavanna Verdi, Nathaniel H. Robin
wiley   +1 more source

Correction: Vulcănescu et al. Systematic Review: Maternal Risk Factors, Socioeconomic Influences, Neonatal Biomarkers and Management of Early-Onset Sepsis in Late Preterm and Term Newborns-A Focus on European and Eastern European Contexts. <i>Life</i> 2025, <i>15</i>, 292. [PDF]

Life (Basel)
Vulcănescu A, Siminel MA, Dinescu SN, Boldeanu MV, Dijmărescu AL, Manolea MM, Văduva CC.   +6 more
europepmc   +1 more source

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking, Yu An, Weimin Bi, Katrin Hinderhofer, Susanne Theiß, Anne Slavotinek, Christian P. Schaaf   +6 more
wiley   +1 more source

Prognostic factors for neonatal mortality at the Agadir regional hospital centre, Morocco: A cohort study. [PDF]

J Taibah Univ Med Sci
El Ghazouani H, Lahlou L, Yakini S, Bou-Iselmane M, Elkhalladi J, Bouaiti EA, Barkat A.   +6 more
europepmc   +1 more source