Results 101 to 110 of about 193,103 (310)
To investigate the relationship between maternal serum concentrations of placental growth hormone (GH-V), insulin-like growth factor (IGF)-1 and 2, IGF binding proteins (IGFBP)-1 and 3 and birth weight in appropriate-for-gestational-age (AGA), large-for ...
Beatrix Jones (3696325) +10 more
core +2 more sources
Background Clinicians and researchers use a variety of intrauterine growth curves to classify NICU infants as small (SGA), appropriate (AGA), or large for gestational age (LGA).
A. Nicole Ferguson +9 more
doaj +1 more source
Detection of the small for gestational age fetus
A reliable SFH chart should be developed for Sri Lanka, and serial SFH measurement emphasised DOI: http://dx.doi.org/10.4038/cmj.v48i2.3366 CMJ 2003; 48(2): 39 ...
openaire +3 more sources
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 +23 more
wiley +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
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 +4 more
wiley +1 more source
Small for gestational age is not a diagnosis [PDF]
P W, Soothill, C S, Bobrow, R, Holmes
openaire +2 more sources
Objectives To identify risk factors for small-for-gestational age (SGA) for counties in central Appalachian states (Kentucky (KY), Tennessee (TN), Virginia (VA), and West Virginia (WV)) with varied coal mining activities. Material and Methods Live birth
Chen, Rusan +17 more
core +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
Background: Hypoglycemia is the most common metabolic disorder seen in newborns and can cause long-term neurological damage, developmental disorders and poor later school performance.
De Bernardo Giuseppe +8 more
doaj +1 more source

